Family Stories
 

Sister describes living with NBIA for herself and brother as young adults
By Melissa Carter 

Brian Carter, 21, and Melissa Carter, 23, from Ontario, Canada. Both were diagnosed with PKAN 6 years ago.		Brian and Melissa with their parents, Don and Carrol Carter  at home in Blackstock, Ontario Canada.

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Symptoms of NBIA showed up early on but full impact of it and diagnosis took years
By Donna Stretter

The Stretter family from Angwin, California Jonathan (sitting) has a form of NBIA that starts with developmental delays and physical symptoms of the disease do not become prominent until the late teens or twenties.

Jon was a beautiful, healthy baby when he joined our family in 1975. We were excited to bring him home and meet his older brother. Towards the end of his first year of life we began to worry because he was a little late in hitting some developmental milestones. By the time he was a year and a half old, he was diagnosed as being severely developmentally delayed with probable cerebral palsy. 

Once he started walking at age 2, he was very independent and freely went up and down stairs and in and out of bed.  To our consternation, he even took several unsupervised walks in our neighborhood. Even though he never developed speech, he used other methods of communicating his needs and we became fairly astute in figuring out what he wanted. 

Things began to change in 2002 during his 28th year when he started losing his balance and falling frequently. By summer of 2003 we were working with neurologists at the University of California, San Francisco, who were trying to determine why he was losing mobility and no longer could get in and out of bed or go up and down stairs independently. 

After all the blood tests, MRI, and EEG scans, the doctors really didn't have any answers. They merely said that while Jon appeared to be 28, his nervous system was more like that of a 70-year-old. An orthopedic workup was done because he appeared to be having pain upon movement after being inactive. After head to toe X-rays and a bone scan, it was suggested that he might be having some arthritic pain and medication was recommended. By fall of 2003 he could no longer step into the shower, so we remodeled the bathroom to make it handicapped-accessible. 

It was only after changing to a new primary care physician in early 2004 and having all his UCSF records sent to her that we learned the MRI showed mineralization in his brain. This new physician felt the mineralization should be explored further and referred us to a local neurologist for a repeat MRI. Jon was having severe, painful muscle spasms and the neurologist started antispasmodic medications. 

After initially agreeing to a second MRI, the neurologist started stalling but finally scheduled the MRI in the fall of 2004. He told us that the findings were consistent with the first one. We were disappointed because after all the testing, we really didn't have any answers and didn't know what the future would bring. We were left with managing his symptoms and adjusting to his current level of disability. He was fitted for a specialized wheelchair and we purchased a van with a ramp. 

In February 2005, the staff at Jon's adult day program was having difficulty because of the ongoing decline in his mobility. We set out to find some help and started by asking for a copy of the last MRI results.  To our surprise we read that some changes in Jon's brain were suggestive of Hallervorden-Spatz Syndrome (now Neurodegeneration with Brain Iron Accumulation or NBIA).  We could not understand why the neurologist had not told us about this five months earlier. 

We immediately did some online research that led us first to the NBIA Disorders Association and then to Dr. Susan Hayflick and her team at Oregon Health & Science University. We sent Jon's MRI films to Dr. Hayflick who told us that while he does not have the "classic" form of NBIA that is associated with the PANK2 gene, he indeed has some form of it. 

Because NBIA is not usually associated with developmental delay, Jon's case is somewhat unique. In May of 2005 we flew to Gaithersburg, Md., for the scientific workshop/family conference sponsored by the NBIA Disorders Association where we learned more about the disease and met other families who are living with it. We had an hour with Dr. Hayflick who was able to meet Jon and confirmed for us his diagnosis of NBIA. 

Dr. Hayflick also helped us connect with a neurologist at UCSF who sees Jon every six months and was the first to recognize that Jon's severe movement problems were a reaction to a drug he was taking, Sinemet.  When lower doses of Sinemet resulted in more scissoring of legs and increased difficulty walking, our new local neurologist added Requip, but that caused severe weight loss and it had to be stopped.  When he stabilized, it was with serious reservation that we tried Mirapex, a drug in the same class as Requip, and have been delighted with the result this time; no anorexia, less scissoring, better weight bearing and improved walking with assistance. 

Because we were inspired by the fundraising efforts of the Bonfiglios and other NBIA families, we sent out a letter this fall to 400 family members and friends asking for their help in the fight against NBIA. We simply shared Jon's story and asked for a donation on behalf of NBIA research. We have been overwhelmed; over $5,400 has come in.

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NBIA child makes a wish, enjoys unforgettable day
By Wanda Fox

Kevin Fox, 9, from Raleigh, North Carolina,  with his sisters, Kate (front) and Madeline, and parents, Wanda and Mike, on the set of Sesame Street.

When my son, Kevin, was diagnosed with NBIA in 2004, our family began talking with the Make-A-Wish Foundation. That organization grants wishes to children with life-threatening illnesses.  Last spring Kevin's "wish granters" came to meet us, and we brainstormed about what we could do for him that would be meaningful and exciting.           

As Kevin's health has become more fragile and his physical abilities more limited, he experiences much of the world from his room and through his favorite books, TV shows, caregivers and visitors.  Because he is the world's biggest Sesame Street fan, we thought it would be wonderful if he could actually visit the show and meet the much-loved characters who bring smiles to his face every day.

In October we received a phone call saying that Kevin, mom, dad, and his sisters, Madeline and Kate, were invited to visit the set of Sesame Street in New York and watch a taping of the show Nov. 14! 

Kevin's wish day could not have been more spectacular!  The cast and crew members fell in love with him, and he had an amazing time with the characters (especially Grover and Cookie Monster  — his two favorites!).  Even after we left, he laughed the entire day! 

With so much of our NBIA loved ones' lives consumed by illness, it's wonderful when we can focus on their wellness. Kevin's trip to Sesame Street celebrated his delightful sense of humor, his adorable personality and the charm, charisma and strength of mind that no disease will ever take away. It also gave Kevin and our entire family a very special memory to cherish forever. 

If you haven't taken advantage of the extraordinary opportunities that the Make-A-Wish Foundation has to offer, we encourage you to contact your local chapter for more information. 

So that Kevin can continue to relive his magical experience, the Sesame Street crew made a video of his visit. You can enjoy it, too, at www.youtube.com. Just type in the keyword "NBIA."

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Family has 3 of 4 children with NBIA
by Mary Miller 

My husband David and I have four daughters, three with NBIA. 

Our oldest, Mandy, was born in March 1982. Her symptoms started shortly after her first birthday. She delayed walking and talking until she was 2. She then walked on her toes and fell a lot. By age 6, she crawled mostly and started losing her other skills. She needed diapers again and could no longer chew and swallow by the time she was 8.  Dr. Robinson, a very kind doctor at Childrens Hospital of Buffalo, N.Y. who specialized in genetics and had seen the disease before, diagnosed her in l989. We knew of no one else with this terrible disease and neither did our other doctors. 

Mandy went through so much from 1990 to 1998. She got a tracheotomy in l997 and since then we have been able to keep her more comfortable, which we are so thankful for. 

It takes so little to make Mandy happy. Just give her a balloon or a candy cane and she'll give you a big smile. Take her outside for a walk, and she's happy all the way. She wakes up each morning with a smile. She could truly give lessons in happiness. 

Our second daughter,  Amy was born in March 1985. She had many of the same symptoms as Mandy, but she also had trouble with her tongue and biting. She needed to have all her teeth removed when she was 12.  Amy does not have a trach and she's on a much smaller dose of medicine compared to Mandy. Amy does have a baclofen pump implant since 1998.  

Mandy and Amy go to school four days a week.  They hardly miss a day and enjoy it a lot. Mandy has a nurse, Susan Fuller, who goes with her to school. Susan does a wonderful job and Mandy loves her dearly. 

Both girls have a wonderful sense of humor and they love to be teased by their dad. We feel truly blessed to be their parents.

Susie was born in October 1986 and passed away in December
2002 at age 16. Everything went so fast for dear Susie. At such a young age she lost all her skills and always had problems with her tongue. She needed to have all her teeth pulled when she was 4. 

She had a tracheotomy in 1998 but had problems with her trach healing over on the inside, shutting off her airway. We did surgery at least five times, only to have scar tissue grow back. Susie suffered a lot. We could never wish her back but we do miss her so much. She was a sweet sweet girl.  

Mandy and Amy love it when we tell them that Susie is in heaven where she is healed and can now run and play and eat with all the other angels. Someday our whole family hopes to join her. 

Anna was born in June 1988 and does not have NBIA. She helps care for her sisters and they are very close. Anna works 2-3 days per week doing house cleaning. She has learned how to cook, bake and can food and she sews all of her own clothes. 

In 1991 at Childrens Hospital in Buffalo I first met Dr. Hayflick. Susie was admitted to the hospital and the doctors didn't know how to help her. She couldn't open her mouth to eat and would bite her tongue repeatedly. She was very spastic and the doctors tried one drug and then another. Nothing worked. They finally put in a feeding tube. At this hopeless time, I met Dr. Hayflick. She came into Susie's room and sat on her bed and we talked for hours. I couldn't believe the interest she had in this terrible disease that our girls had. I will never forget her understanding kindness. Later she came to our home to draw blood from each family member. 

This disease has been a big part of our daily life and yet in so many ways we feel blessed. Especially when we think of all the people we have met at hospitals, doctors' offices, at the Hewes Center in Ashville where the girls went for years, then Clymer Central and now the Resource Center. How could we ever have done it without these kind and wonderful people to help us?

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April 2006
 
Look after your own needs when taking care of another
By Dianne Gray

Dianne Gray from Naples, Florida, with daughter Christine and son Austin.

We are reminded, with the way-too-early passing of 44 year-old Dana Reeve, wife of the late Christopher Reeve, of our own mortality. While most of us certainly would never trade a minute of being with a loved one who has NBIA, how often have we heard that we need to take care of our own health so that we can care for our loved one? 

My own son, Austin, was diagnosed with NBIA in 1995 and passed away in February 2005 from complications of the disease. As caregivers, we face exhaustion and unparalleled stress, not only from caring for our family member with NBIA, but also as we strive to function in our various roles with other family members and friends. Life doesn’t stop because we are caregivers. 

We also realize the clock is ticking to the time when we will no longer have our loved one to care for. The “just a little longer” theory comes into play as we convince ourselves that if we can simply get by another day or week, it will be over and then we can care for ourselves. 

Yet the days turn into weeks, the weeks into months, and the months into years. In the back of our minds, we contemplate the questions: “Just how important is it to take care of myself anyway? Aren’t I being selfish? What do I have to complain or feel tired about?” 

A recent nine-year groundbreaking study of 518,240 couples backed by the National Institutes of Health highlighted the importance of caring for the caregiver and the potential health effects for our nation’s 44.4 million family caregivers. While the study focused on heterosexual married couples older than 65, the “finding could apply to almost anyone in a close relationship,” stated Nicholas Christakis of Harvard Medical School, co-author of the study in the New England Journal of Medicine. 

In the article, Christakis says, “the realization that the health of the people is interconnected could change how we view the proper delivery of health care.” 

So, how do we care for ourselves while agonizing over the pain and impending passing of our family member or friend with NBIA? Do we try therapy, exercise, alcohol, reiki, prayer, vitamins or medication? After talking with many other caregivers, I believe that most of us have tried some combination of these approaches at different times, as well as some we didn’t mention. 

In my own 10-year-plus stint as a primary caregiver, I can tell you that watching my child in pain and caring for him was the most excruciating, exhausting, yet rewarding experience of my life. During that time, I did try to care for myself as best I could, but my friends and family will tell you that I was a walking, talking, sleep-deprived klutz just trying to get through the day so that I could get to the next day which, I hoped, would be better. What did that process do to my own health? Time will tell. 

That said, I realized that some things did help and you, too, can find ways to maintain balance and a sense of sanity during this extraordinary journey of love and suffering. Evidence supports that if you are to make clear, sound decisions for your loved one, it is important to care for yourself as well. 

However, it is equally important to be selective with your choice of self-prescribed help. One day I realized I needed a break from the intensity of the situation, and wanted to clear my head. With a nurse in the house, I set out on my bicycle thinking I would return refreshed after a brief ride. While heading out of the garage, I heard the cell phone ring, tried to reach for it and ran into a car in my driveway! The message there may have been that I needed more sleep, not a bike ride! Maybe humor was also the message of the day. I am sure the sight of me riding into a parked car (without injury) was plenty funny. 

What worked for me at first was spending as much time with Austin as possible, exercise, prayer, being outdoors, and discussions with friends, family and clergy. Yet eventually, I found that none of those provided me with the real peace I needed at that time. I then tried meditation, brief travel with my daughter (which itself provided its own stress due to being away from Austin!) and watching Timon and Pumbaa with Austin, which made things better for me, even momentarily. Have you ever seen how funny those two can be? Even he laughed or smiled at their antics up until his last week of life, which helped to lower my stress, making me feel enormously better. 

Unplugging the phone helped at times, as did the scent of lavender and an occasional dose of “chocolate therapy.” I also tried a few minutes in the sun which in itself probably added a few more wrinkles and the potential for skin cancer, but who cared at that point? I just needed to get through the day without falling apart. Truthfully, sometimes there was simply nothing that would provide much peace. A realization washed over me – that this horrible disease, NBIA, was in charge, not me. Giving up perceived control did as much to alleviate stress as anything else I tried. 

So, while we will never know whether or not cancer or an untimely passing is the result of an incredible stress filled journey as a caregiver here on Earth, we do know that caregiving is a job of love and sacrifice and one most of us do with commitment and passion, regardless of the effect on ourselves. Yet with that said, statistics show we indeed, need to balance our lives with some sort of respect and care for our own mind body connection so that we can take care of not only our loved ones, but also try to put our lives back together with some modicum of health, following their passing or even better, so that we live long healthy lives with them, in the event of a cure.

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March 2005

How we coped with a case of atypical NBIA
With help from Dr. Susan Hayflick and others
By Nancy Barnes
 

As many of you know, NBIA remains a perplexing illness, despite recent discoveries in the laboratory. The disease progresses differently in individuals and while certain treatments might work for some people, they might not work at all in others. 

Let me start from the beginning. Becky, or Rebecca Lynn Barnes, was born on Nov. 10, 1972. She was beautiful and seemed perfectly healthy. She developed normally through her first year.  Although she walked late and her speech was delayed, we weren’t really worried about her slow pace until she was 2½. We took her to a children’s medical center near our home in Tulsa, Okla., for evaluation. 

After a battery of tests, the doctors agreed something was wrong, but what? Autism, perhaps? Mental retardation? No one knew. Over the years, it became clear that she was not autistic, but she was obviously severely developmentally delayed. 

We enrolled her in special education in school. Her only physical problems were a mildly weak left arm and what I called “a slightly juvenile gait.” She was very healthy, though, and trips to the doctors were rare. She made a life for herself with lots of help. 

But two summers ago, one of Becky’s caregivers noticed she had difficulty with balance when there was a change in terrain, particularly from sidewalk to grass. Sometimes, she’d fall backwards. Her primary care physician sent her to a physical therapist that found some muscle rigidity.

Becky also saw a psychiatrist, an occupational therapist and a neurologist. A CT scan of her head was read as normal. Still, no one could say what was wrong, but she was losing her freedom of movement. She had trouble getting out of the car or rising from a chair. 

Early in May 2004, I went to wake Becky and found her drenched in sweat, spastic and rigid, and barely able to stand up. She was admitted for testing, and a new neurologist, Dr. Todd Dunaway, ordered an MRI. The results nearly knocked me to the floor. Never in 30 years had Becky had a test that was abnormal, and I just was not prepared for this one to be any different. 

Dr. Dunaway wrote down the name, Hallervorden-Spatz, told me that it was very rare and that he only knew about it because he had heard Dr. Susan Hayflick from Oregon speak on her research. He wanted us both to search the Web. All night, totally in shock, I searched. I found the nbiadisorders.org Web site, which was then hssa.org.

The next day, Dr. Dunaway confirmed the devastation I had been reading about all night. The doctors, social workers and her case manager were talking about wheelchairs and hospital beds, and all I wanted to do was take Becky home and make her as comfortable as possible. Dr. Dunaway wanted to send her MRI to Dr. Hayflick for confirmation, but the only therapy was to try to treat her symptoms. She had already been put on Baclofen, 10 mg, three times a day for the spasticity. 

The Baclofen helped somewhat. Over the next few weeks, she was able to walk much of the time, bent over, on her toes and with help. She didn’t have the stamina to go back to work, and evening activities where hit and miss. Much of the time she didn’t feel well, often dozing in the middle of the day and not sleeping well at night. We upped the Baclofen slightly and added a low dose of Artane to relieve tremors in her hands and legs. She improved somewhat and got out of the house, which raised her spirits and helped her sleep.

We told the PT, OT, speech therapist and doctors of the new diagnosis and they also looked for information online. Her PT treats another person in this area who has this disease, Kelsey Mayfield. The next time the team met, each of them had many questions, most of them unanswerable, and some suggestions.

The PT increased stretching, the OT suggested therapeutic horseback riding and the speech therapist was concerned with swallowing. My goal was to prevent her from suffering, physically or emotionally, but it seemed hard to prevent that. 

All of us, including the staff that works round-the-clock with Becky, had trouble putting our hearts into the programs when we believed that a relentless decline was inevitable. 

After several discussions with Allison Gregory, who works with Dr. Hayflick, and Dr. Dunaway, I changed my mind. We went in September. It’s difficult to find the words to describe the reception we received from Allison and Drs. Hayflick and Penny Hogarth. They were clearly dedicated to their patients and their research. They asked many, many questions, had a conference and then sat with Becky and I for the rest of the afternoon, talking, answering questions and giving their best opinions.

While there are not many cases of the form of the disease that Becky has, both doctors gave us hope. They recommended medications to Dr. Dunaway that they believed would greatly improve Becky’s walking, balance and rigidity. They thought she would be able to go back to her normal life, work and activities. Dr. Hayflick thought she would have a normal life expectancy. 

I was almost as shocked as I was with the initial diagnosis, as I had not found encouragement from anything I had read or heard about NBIA. When we finished, Dr Hayflick walked us to the car and Becky and I left knowing we had made new, trusted friends.

When we got home, Dr. Dunaway got the report from the two doctors and started Becky on a drug usually used to treat Parkinson’s disease, Carbidopa-Levodopa. Initially, the dosage was one tablet, three times a day of 10/100 mg tablets, (this is a combination of two medications, containing 10 mg of carbidopa and 100 mg of levaodopa) and after three weeks, we would increase the dose until she was taking two tablets three times a day. 

Becky is now moving about her house and community very nearly as normally as she ever has. Just in the last two weeks, her balance has been stable enough that her staff and I have stopped shadowing her every move. She’s back on the treadmill, walks daily and is working three hours a day. We are very hopeful she can resume her full schedule as she gets stronger.

She has recovered her ability to do easy things again, like cross her legs or rapidly turn the pages of a magazine, or get the last spoonful from a yogurt cup or sleep on her stomach. When we were in Oregon, Becky weighed 90 pounds; now she weighs 108. Most of all, she feels really good and is so happy all the time that she inspires all those around her. 

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My Brother 
By Jeff Stromsta

Jeff, 17 and Kenny Stromsta, 18, from Shorewood, Illinois.

 
Since he was 2, Kenny has practiced three qualities: patience, persistence, and perseverance. He can only get around if another person helps him, or with the help of a machine. But like many special needs children, he wants nothing more than a hug.

Others can’t help but be drawn to Kenny’s glowing personality. His eyes convey a sense of innocence with a “help me” twinkle. His body is as fragile as a ship-in-a-bottle; a bone can be broken at any moment. His limbs are a waste of flesh and bone for he has no control over them. He’s 17 now and he’s had more hospital visits than many doctors. His pain, though frequent, is often overshadowed by the happiness that follows.

He has only five teeth, but his face is defined by his smile. His sense of humor is greater than that of any comedian. He chuckles at the sound of spilled milk or a stubbed toe. He accumulates girlfriends faster than a rock star. His desire for mischief is greater than that of Dennis the Menace. His strength, in times of sickness, is greater than that of Arnold Schwarzenegger.

For Kenny, a walk around the block is like a trip to Disney world. After I spend time with him, everything seems shallow and insignificant. He says a mouthful even though he can’t speak. His hope is concentrated on the fact he will spend eternity with God in heaven.

He’s different. He’s special. He’s my brother.

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April 2004

Somewhere between disbelief and exhaustion, New York mother learned to accept and adapt 

By Cheryl Lamos

Bruce Belcher, Barbara Belcher, Ben Belcher, Cheryl Lamos and Becky Belcher (center) from Rensselaer, New York.

At first, I was in disbelief. How could not one, not two, but three of my children be going through this horrible ordeal? Yet, the signs, slow and subtle at first, crept into the lives of my children, one by one.

Looking back now, I can honestly say that NBIA struck without warning. My children rode bicycles, rollerskated, played sports and did all the things other children did. It wasn't until my oldest, Rebekah (we call her Becky), who will be 27 in May, started showing signs of clumsiness at about age 16 that we thought something might be wrong. The best way I can describe the sign was uncoordinated, awkward walking.

We also noticed that Bruce, who is now 25, had started walking on his toes. Bruce had been diagnosed with attention deficit and hyperactivity when he was in the fifth grade and responded well to Ritalin for many years. Was the hyperactivity a part of NBIA? To this day, we don't know. 

Barb, who will be 24 in May, also had a milder form of attention deficit disorder but no hyperactivity. She began to walk more awkwardly, just like her sister had. All three of my children were wearing out the toes of their shoes and sneakers because they were not walking correctly. MRIs showed iron deposits on the brain. Each was diagnosed as a teenager with NBIA.

My fourth child, Ben, 19, also had an MRI. It showed no iron deposits. He does not have NBIA like his siblings and spends most of his time with his father. We are divorced, and the primary responsibility for caring for the three affected children is mine.

I work full-time as a nurse and have been one since 1976. I had never heard of Hallervorden-Spatz (former name of NBIA) and would have been much more cautious about having children had I known this could happen. What little I found to read at the time was not encouraging: an end prognosis of dementia, muscle weakness and paralysis. I really had a hard time believing the diagnosis or I probably would have found this support group sooner. I was in a state of denial for about five years. But it gradually became real to me.

Luckily, I found a most wonderful neurologist who had dealt with NBIA previously. The neurologist was into research and genetics and put me on to the NBIA Disorders Association where I found much needed support and information.

We sent Becky's blood to a Chicago lab and she did not have the PANK2 gene. I think this goes hand in hand with them not seeing the eye of the tiger on the MRI, so I was not surprised. Even though Bruce and Barb also have NBIA, Becky's case is much worse. We don't know why.

After the divorce, I've tried to juggle my children's care by taking one day at a time and keeping a positive outlook. I believe everything happens for a reason. We are constantly adapting, making necessary changes in our home to accommodate a wheelchair or a walker. I am always amazed at how positive the kids remain, and that inspires me and helps me cope.

And the good news is, their stories don't end with the NBIA diagnosis.

Bruce graduated from high school in 1998. He went on to community college, until we figured out it wasn't for him. He got his driver's license at 18, and loves to drive. Vocational & Educational Services for Individuals with Disabilities helped place Bruce in a job as a mail clerk at the state education building in Albany. They provided a job coach, and Bruce proved to be a hard worker. He is well liked by his co-workers.

In July 2002, Bruce got a permanent state position. He is fond of saying, "I will not let this disability keep me down, I am going to beat it." Bruce is on Artane for dystonia and Baclofen for spasticity. He has been getting Botox injections in his legs for a couple years.

Recently, his balance has worsened, and we are considering a Baclofen pump. He had a test dose inserted with a lumbar puncture and responded well. Bruce bowls once a week in a league with his sister Barb. He enjoys computer games & football.

Barbara graduated high school in 1999. She always struggled with her schoolwork but tried her best. Barb did some vocational training and Vocational & Educational Services for Individuals with Disabilities worked with her in a few job situations with a job coach. It didn't go well for her. We finally got her in a sheltered workshop where she stuffs envelopes and folds papers. Barb is very happy there.

Once a week, she gets physical therapy and attends group therapy where she gets help dealing with relationships and develops coping skills. She loves music and computer games and is very outgoing and friendly. She loves to talk and greatly enjoys the bowling league.

Like her brother, she also takes Artane and Baclofen. Barb has worn ankle/foot orthotics, which are leg splints that help her walk better, for the last two years. She also has been getting Botox injections for the last 1-1/2 years in her legs. She uses a walker when she goes to the mall or when walking long distances.

Becky is the hardest for me to talk about. She graduated from high school in 1995 and was an excellent student. She was always a happy, talkative child and teenager who made friends easily. She enjoyed listening to the Beatles music and collecting trivia about them.

When we first got her diagnosis after investigating Becky's clumsiness, I just couldn't believe this bubbly, vivacious young woman would not have a promising future. She went to community college part time with help from Vocational & Educational Services for Individuals with Disabilities. While working toward an associate's degree in human services, NBIA started to take its firm grip on her, making learning — and even walking — more difficult. She had earned 24 credits, and wanted to work helping others with disabilities as she was just beginning to understand her own disability.

Since October 2000, Becky has slowly lost the ability to care for herself; she has not been able to talk for about two years. Since January 2003, she hasn't been able to walk. Becky has also been going to a day program since October 2000, it was at that time I realized she was not safe to care for herself home alone. It is open Monday - Friday from 8 am to 4 pm.  She could still walk and talk when she started and they have experienced with me her steady decline, feeling our pain. She has been on Eldepryl, which did help her walk a bit better for a short time, but now she is just on Artane and Baclofen. Recently, we added Klonipin because she was starting to have involuntary muscle spasms that were quite painful.

The Klonipin has helped but makes her sleepy. I can get her to smile for me very easily when I sing along with a Beatles song; she finds that quite funny.

Ben, my youngest, is a college freshman. He is quiet and sensitive. He sometimes feels guilty for not being affected by NBIA and wonders why. He enjoys playing guitar and is part of a heavy metal rock band. He tells me that is how he gets out his frustrations.

My life is busy and full and often not my own. Yet this is MY life. I hope and pray for a medical breakthrough that might stop NBIA from robbing our children of their lives. Actually, the thing I have the hardest time doing is telling others about my children and accepting help when I need it. I think it's partly a mother/nurse thing, the feeling that I can do it myself.

I don't like to ask for help, but I have come to admit that I can't do it all myself. My sister is about 30 miles away, and I have a few close friends who are major sources of support. For the last two years, I have an evening aide from 2 p.m. to 8 p.m., Monday through Friday, who has been invaluable to me and who has made my life much easier. She is only paid to care for Becky but very willingly helps with Bruce and Barb. For the last six months she also works one weekend day.

Being part of the NBIA support network is one of the best things I have done for myself. I know I am not alone. Yes, I get exhausted. But, could I not do what I do? No, these are my kids. There is really no choice.

I think the most important thing I have learned living with my three adult children with NBIA is not to take anything for granted. Take each day for what it is, and enjoy that day.

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Dietmar Klucken’s (center) wish comes true when he meets his favorite musicians, the rock group Die Toten Hosen.	Mike McGourthy, Sr., and son Michael share time with the cruise ship captain (left) while on board for Michael’s wish.

One family lives in the United States; the other lives in Germany. But they experienced a similar joy when the Make-A-Wish Foundation here, and Wunschzettel e.V. in Germany, gave them a lasting memory. 

The McGourthy family of Middleboro, Mass., was ecstatic about the vacation Make-A-Wish made possible. About two years ago, the McGourthys contacted the foundation about enrolling Michael and Bobby. After sending in the required paperwork, including a doctor to contact, both boys were approved for “wishes.” 

The family decided to honor Michael’s wish first. He’s the oldest. He wanted a Disney cruise, and they got that — and more. Michael’s best friend, Drew, was included, and the foundation paid for everything. It flew the entire family and Drew to Florida where they boarded the cruise ship and sailed for seven days. Spending money also was provided. 

Michael and Drew had their own teen room, and the other kids were entertained by special programs onboard the ship. Michael received many presents, hand-delivered to his room, including a stuffed Mickey mouse, a gift certificate to the game room and invitations to meet the captain and the other Make-A-Wish kids onboard. 

The group visited beautiful islands and had an amazing time. Bobby is next and is working on his wish. 

In Velbert, Germany, the Klucken family enrolled Dietmar. His wish: to meet Campino, the leader of the rock band, Die Toten Hosen. The wish was approved, and the band performed Dietmar’s favorite songs, at his request. His father, Stephan, taped the encounter. 

Dietmar was so full of joy, and still is. His condition also suddenly improved. After losing the ability to sit normally, he can now do so. “We don’t know what caused this improvement, but we’re very happy and we presume that a very special event has contributed to the unexpected improvement… his appointment with a very famous rock band,” his mother, Angelika said. 

The McGourthys and the Kluckens encourage other families to contact a wish foundation and make a wish they won’t forget. 

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August 2003 

Family turns to new drug, oil, organic foods in quest to help ill daughter 
By Rhonda Mayfield

Rhonda & Scott Mayfield from Claremore, Oklahoma with their children Kelsey, 8, Kenneth, 11, and Kaylinn, 14.

In the four years that our daughter, Kelsey, first started showing symptoms of NBIA, our family’s struggle to understand the disease and help Kelsey has been like trying to put a giant puzzle together with many of the pieces missing. We’ve struggled to figure out why Kelsey is affected by certain foods, why her weight plummets and why she has so many painful muscle spasms. 

Trying to fit these pieces of the puzzle together has led us to some novel therapies, including working with a metabolic doctor, Dr. John Coldwell, giving Kelsey a special oil, and putting her on an experimental drug that I am convinced has saved her life. We turned to these treatments after trying all of the usual methods that many of you have also tried: warm water physical therapy and an assortment of drugs, including Artane, Carbitrol, and Baclofen. 

What led us to these new treatments were several ongoing problems: Kelsey’s recurring pneumonia, her muscle spasms and weight loss. On July 3, 2001, Kelsey had a feeding tube inserted. It seemed that when she ate foods high in vitamin C, her muscle spasms and rigidity would worsen. A pharmacist explained that vitamin C aids our bodies in using iron and that perhaps it was causing Kelsey to store iron at a faster rate in her brain, aggravating her symptoms. 

To make her more comfortable, we were giving her Valium rectally several times per day. It was an awful experience, and Kelsey’s weight was continuing to drop. In August 2001 a lady called me from Oklahoma City. She had seen a picture of me and my husband, Scott, on the NBIA Web site after the first family conference. She told me she had two children with the disease. Her daughter was in heaven and her son was 33 with the classic form of NBIA. 

This woman had taken her son to Baylor University Movement Disorders and Parkinson Center in Houston to see the leading expert on movement disorders -- Dr. Joseph Jancovic. She considered the trip her last hope; her son was dying. Dr. Jancovic prescribed an experimental European anti-psychotic drug, and her son began getting relief from his severe rigidity and spasms. He also began gaining weight for the first time in years. 

After we hung up, I immediately called Scott. My next call was to Dr. Jancovic’s office: 713-798-5998. By the end of the day we had an appointment, flight arrangements and a hotel room. We took Kelsey to Houston in August 2001. Dr. Jancovic told us that he had numerous patients with NBIA who have benefited from using the drug Tetrabenazine. Within two weeks, Kelsey was doing much better on the TBZ. 

We were able to greatly reduce the Valium. Kelsey can now go days without any Valium and can sometimes go longer than a week without Valium. Scott and I have no doubt that Tetrabinazine saved Kelsey’s life. Today, Kelsey takes 1/2 tablet every 4 hours around the clock (10-2-6-10-2-6). When a dose is late she begins to have rigidity and spasms, which let us know we have gotten off schedule. 

Tetrabenazine is now the only medication Kelsey takes regularly. We buy the TBZ from Dr. Jancovic for $170 per bottle of 112 tablets of 25mg each. The bottle lasts Kelsey five weeks. Our insurance will not cover this drug because it is classified as experimental. 

Sadly, Kelsey’s weight has continued to decline, despite the TBZ. It fell from 34 pounds to 22 pounds. In March 2002 Kelsey was in the hospital again for pneumonia. We just about lost her. We found that when we gave her any kind of formula she would require Valium. I began to give her only organic food that was put in a blender and liquefied. We saw improvements and some setbacks. Again, I was puzzled with the foods that were causing the increase in spasms and rigidity. 

I took a class on nutrition at the university to try and understand why different foods were affecting her so strongly. During this time we sought out the guidance of a natural doctor, Dr. Jack Wise, who entered Kelsey’s blood test results into his computer. She had six items out of the normal range. We received a printout that showed us what supplements were needed to get her blood back in balance. After starting those supplements, Kelsey began gaining strength and being able to eat by her mouth. 

Today, Kelsey eats by her mouth to satisfy her taste sensation. She also gets fed five times a day by tummy tube. Dr. Wise sent us to an internal medicine doctor, Dr. James Block in Kansas, in November of 2002. Dr. Block gave us the solution to Kelsey’s weight loss problem. Dr. Block said that the NBIA appears to be a mitochondria disease. He sent me information from www.umdf.org (United Mitochondria Disease Foundation) which explained that people with mitochondria diseases can not break down even the smallest oil (triglyceride) in nature. Mead-Johnson offers an oil called MCT oil that is broken down smaller than nature. 

UMDF also suggested supplements that may help. Kelsey began gaining weight after starting on the MCT oil. She did not get pneumonia this past March 2003. 

Our favorite piece of equipment is the pulse/oxygen monitor that we attach to Kelsey’s toe at night. An alarm sounds with fluctuations in Kelsey’s pulse rate or her oxygen level. We sleep much better knowing that if Kelsey needs our help we are alerted. Our insurance paid for the monitor in full. 

For the last two months, Kelsey has been getting a full body massage at least two times a week. I was shocked when the massage therapist was able to totally relax Kelsey with her lying on her stomach. Kelsey has not been able to lie on her stomach since November 1999 because of the muscle spasms. 

Kelsey is now 8 and weighs just under 27 pounds. She is looking better than she has in years. She has regained some movement in her hands, legs, and neck. I feel that she has gotten better as a result of TBZ, MCT oil, massage therapy, an organic diet and supplements. 

An article on page 138 of Pediatric Neurology magazine, (August, 2001, from the First Scientific Workshop on HSS) discusses which supplements makes NBIA symptoms worse and which supplements (mostly antioxidants) control symptoms by reducing oxidation. A biochemist is helping me to decipher the article. 

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April 2003

Coping with NBIA/PKAN in Germany
by Angelika Klucken

Dietmar Klucken, 12, with friends.	Dietmar, Angelika, Matthias and Stephan Klucken from Velbert, Germany.

Our first son, Dietmar, was about 8 years old when he developed the first distinctive symptoms of dystonia and dysarthria (rigidity in muscles) shortly after a chickenpox infection. He was 11 when he was diagnosed with HSS, now known as NBIA, in October 2001.

After that frightening diagnosis, we left the University Hospital without any hope. All of the neurologists we consulted were at a complete loss. Then, we heard of your association and drew new hope from reading the Web site. Everyone we contacted in the U.S. for advice in the following weeks was friendly and promptly responded to our desperate questions, thus giving us comfort and helping us to get through the months after the diagnosis.

In spring 2002 genetic testing revealed that Dietmar has PKAN. He refused to go out for walks because generalized torsion dystonia disabled him increasingly. After an unsuccessful trial with L-Dopa/Carbidopa, Dietmar began to take vitamin B_5. In June, he was up to 2000 mg daily and his complaints about painful muscle cramps in his left foot vanished. He began to feel better.

During June and July of last year, we tried other treatments as well. Dietmar continued the B₅ therapy but also took a course of medical treatment at a neurological Reha-Hospital for children. I accompanied him during those six weeks. The pediatric neurologist recommended Artane (Trihexyphenidyl), and, very slowly, we increased the dose from 2 mg daily to 15 mg. At about 8 mg Dietmar’s speech markedly improved. He perspired less and the dystonia in his back seemed to get a bit better. But the higher the Artane dose, the more side-effects: restlessness, dyskinesias, cotton mouth and dry skin. So we decided to reduce Artane slowly until we got down to nothing. We wanted to find out if Artane really had any positive effects. Two weeks after we had taken Dietmar off Artane, he was bathed in sweat again every day, had trouble speaking and worsening dystonia in his back. At present, he takes 8 mg Artane daily, and we think it really helps him.

During his stay at the Reha-Hospital, Dietmar received a wheelchair we had ordered months previously. The hospital staff saw that it was totally inadequate for Dietmar’s size and symptoms. They helped us get a proper wheelchair with a seat that can be titled backwards to relax his back.

Dietmar also has benefited from other treatments at the hospital:

Physical therapy, including stretching and wheelchair training

Occupational therapy, such as practicing Activities of Daily Life (ADL) like dressing, making breakfast, etc., training fine motor skills and attention

Speech therapy, including training his slightly impaired tongue by speaking with a cork in his mouth

Dietmar also uses the hospital’s swimming pool and loves moving in the warm water. He enjoyed riding a special tricycle for disabled children, and the hospital staff helped us get one for Dietmar to use at home so he could train his leg muscles. The recommendations of the hospital staff made it considerably easier for us to get all of the prescriptions for therapies and aid equipment that Dietmar needs. Also, my son and I enjoyed the relaxation and time we spent there with each other. A psychologist was on hand for the parents and she helped me clear my head and comforted my heart.

Since those weeks at the hospital, Dietmar’s condition as stabilized, and he has even got a bit better. People who saw him in spring and then in fall were astonished at the turnaround. Two times a week Dietmar gets physical and occupational therapy. He bounces back more quickly from infections and other setbacks now.

Right now, he takes 4000 mg B₅, 8 mg Artane, 100 mg Coenzyme Q10 and 30 mg Baclofen daily. Every two days, he takes a multivitamin capsule. We haven’t seen any positive changes from Baclofen so far and aren’t sure why. We hope that the B₅ is still working and the other vitamins are contributing.

None of the treatments we have tried have resulted in a miracle, but we have seen the progression of NBIA slow down considerably for the first time in two years. We still put our greatest hopes on the B₅ and hope that perhaps there could be residual enzyme activity in his PANK2 gene.

The main thing is that Dietmar is happy. He enjoys life, though he is sometimes sad. Most days, he doesn’t allow NBIA to keep him down. It’s really admirable how fast he has accepted his new life as a disabled child during the last two years. Dietmar has got a special sense of humor and an infectious laugh. He’s very creative and persistent about reaching his goals. He’s a fan of Eminem, Busted and Linkin’Park. He likes to surf the Internet and to design little letters to his friends with “Print Art Artist.” His favorite films are “8 mile” and “Harry Potter.”

We’re trying to live a normal life—as much as possible. And there is Dietmar’s younger brother Matthias, 11, who isn’t affected by NBIA but who also needs his family. Our lives are full.

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April 2003

German NBIA families are uniting with new organization
By Angelika Klucken

Frist row: Julia Zell (15), Tuba Aydin (10), and Dietmar Klucken (12); second row: Uschi Zell-Reichardt, Angelika Klucken and Hatize Aydin.

As it turns out, last year's family conference in Indianapolis was a life-changing event for me. I was overwhelmed to meet families from all over the world united by the same destiny and to meet the team from the Oregon Health & Science University. I was deeply impressed that the team was on hand during the whole conference and gave us so much information about NBIA. Before the conference, I had the vague idea that something had to be done for those NBIA families in Germany who couldn’t understand the English material written about the disease. I thought we should unite. At the time of the conference, I already had been in contact with a few NBIA German families and I shared with them my experiences in Indianapolis.

When I returned to Germany, I knew what I had to do. My husband and I began laying the groundwork to establish a German non-profit organization. We called it “Hoffnungsbaum e.V. Verein zur Unterstutzung der Erforschung und Behandlung von NBIA (vormals Hallervorden-Spatz Syndrom).”

On Nov. 24, we officially launched the organization with three NBIA families, friends, relatives and a young neurologist from the Technical University of Munich where genetic testing for PKAN is done. Our organization’s goals are these:

Support international research and communication between researchers

Help build a team of specialists to work on NBIA in Germany

Support early recognition of the disease to avoid misdiagnosis

Share information and experiences among NBIA families and provide emotional support

Educate affected families on all questions concerning the disease

Cooperate closely with the NBIA Disorders Association and support its work

Make information about NBIA public wherever it could be useful to get support for our work.

For now, we’re writing articles for medical magazines, searching for more NBIA families in Germany, translating information about the disease into German and planning fundraisers.

The NBIA Disorders Association taught us that we really can do something to help our kids. If we’ve got hope, our children will have hope too. If we’re strong, our children will be strong too. If we enjoy life, our children will enjoy life too. By helping each other, we’re helping ourselves and our children.

We’re very grateful to you.

Hoffnungsbaum e.V.—Verein zur Forderung

der Erforschung und Behandlung von NBIA

(vormals Hallervorden-Spatz Syndrom)

Hardenberger Str. 73

42549 Velbert

Germany

Tel. 02051/68075

www.hoffnungsbaum.de

E-mail: hoffnungsbaum@aol.com

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December 2002

Some HSS families turning to botox injections
by Patricia Wood
 

Ashley Middendorf, 16, of Smithton, Illinois finds relief with botox injections.

 
For the last three years, Ashley Middendorf of Smithton, Illinois, has found relief from stiff muscles caused by HSS with botox injections.

A high school sophomore, Ashley was diagnosed with HSS three years ago after being hit by a car. That seemed to bring out the symptoms of the disease. She now gets botox injections every two months. Ashley first got them in her jaw area but also receives them now in her tongue, left hand and neck.

“We have seen a lot of improvements,” said her mother, Donna Helton. “She can now open her hand and pick up things. Before, she kept it in a closed, clinched position and turned up towards her shoulder. She also kept her head turned to one side, which has improved.”

Botox, however, is a controversial drug made of the poison that causes botulism. Its efficacy in treating HSS has not been proven, although it has been used as a therapeutic tool since the late 1980s.

While botox has gotten attention recently because it is used to smooth out wrinkles in the skin, it also is used therapeutically to relieve dystonia. Botulism toxin is injected into specific muscles where it acts to reduce the involuntary contractions. The injections weaken muscle activity sufficiently to reduce a spasm but not enough to cause paralysis.

Ashley is under the care of a physician, who administers the injections. It is important that a trained doctor give the shots. The physician should be familiar with the clinical features of dystonia and the involuntary movements of the person being treated. Some physicians use an electromyograph (EMG) to locate overactive muscles and to measure and record muscle activity.

Injections with the overactive muscle are done with a small needle, with one to three injections per muscle. Discomfort at the site of injections is usually temporary, and a local anesthetic may be used to minimize any pain from the shot.

The effects on the muscle usually start within days of the injection, peaking in approximately four weeks and lasting three to four months.

Ashley might be able to benefit from the injections indefinitely. Based on more than a decade of clinical experience, patients who respond well to botulinum toxin may continue treatment over the course of many years without side effects. In some cases, a patient who has previously been successfully treated begins to experience a loss in benefit, possibly because the nature and pattern of muscle contractions may change over time. It’s also possible that a person may develop antibodies that “neutralize” the injected toxin.

In general, side effects are temporary and clear up on their own. Depending on the part of the body treated, some side effects include muscle weakness, difficulty swallowing, flu-like symptoms, and soreness at the site of the injections. Adjusting the dosage or site of injection for future treatments may help avoid these side effects.

Ashley still has muscle spasms in her legs. Recently she broke both of the foot pedals on her wheelchair made of solid metal with the force of her muscle spasm. She wears braces to help her walk and keep her feet from turning in. She is also fed through a g-tube and is in a wheelchair 80 percent of the time. She communicates by using a Vanguard Communication device.

She is a happy child, always smiling and giving hugs, her mother says. Her parents have programmed her computer to mention her favorite singer, songs, friends and so on. She attends high school full-time and has an aide, Debra Raban, who assists her and a teacher, Noreen Frame, whom she loves. Her favorite activities include listening to music, watching TV, playing with her dog, Bandit, and most of all, shopping.

Ashley goes to physical therapy and occupational therapy at Memorial Hospital in Belleville two times a week.

“We keep everything pretty much on the up side,” her mother says. “We are constantly joking around and laughing all the time. I think that is what keeps us going. ”Botox information for this article was provided by the Dystonia Foundation. You can visit the Web site at www.dystonia-foundation.org

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Roger Cooper and Dr. Susan Hayflick at 2000 family conference in Bethesda, Maryland.

As a 53-year-old divorced father of three adult children, I live alone in Elgin, a rural area of Morayshire, Scotland. I was diagnosed with HSS in 1991 after a long series of tests and bewildering analyses by doctors. I was identified, at times, as being mentally ill or a perplexing case for doctors. My symptoms started when I was 19. It began with stuttering, which led to speech therapy. I would also experience a sudden loss of balance. Vision problems and other symptoms appeared during the years.

Nowadays, to communicate, I rely on a Lightwriter, a laptop computer that speaks what I type. I have lost a lot of my eyesight. I still lose my balance and find myself using a wheelchair or a zimmer (walker) when outdoors. I have torn ligaments in my leg and ankle that are very painful. I have lots of headaches and don’t sleep very much.

Needless to say, HSS has caused me to rely on others for help. My mother does my shopping. My aunt cleans my home. My social worker, Claudia, helps with my everyday needs. Someone else reads my mail. Others also help me get by.

I know I am very lucky to have been given these many years, despite the ups and downs of coping with HSS. For me, having HSS means people don’t understand me when I try to speak. It means if I want to play pool or archery, I have to find someone who can really take the time to help me pursue those interests. It means waiting for an appropriate house to be built for me so I don’t fall and hurt myself. It means I cannot see what a person looks like, especially when we’re in a brightly lit room. Sometimes, there is nothing harder than asking for help.

I have to work within myself every day to accept the trials and tribulations of this disease. I have to build myself up again and again. On some days, I can be very cheery and in the best of moods. On other days, I am in the pits and just don’t want to live anymore. I don’t give in to those bad days. My self-determination forces me to get up and fight against it, no matter how badly I feel.

HSSA has been a bright spot in my life. I have really enjoyed getting to know others who are suffering from HSS. After coming to the conference in 2000, I have taken a different approach to my life. Before the conference, I believed I was the only person suffering from HSS in the U.K. But networking has led to contact with two other families here in the U.K. We are in touch by letter. I am very much hoping to participate in this year’s conference. So, everybody, please cross your fingers so fundraising efforts of my social worker make this opportunity possible once again. Hope to see you in May.

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Michael Cohen, 7 weeks after surgery to have the Baclofen pump implanted.

Though I started to develop HSS at age 8, I have always been active and determined not to let the disease conquer me. There are parts of me, however, that HSS has taken over, despite my resistance. My muscles are rigid and I have trouble with balance and walking. Between the ages of 12 and 18 I had to use a wheelchair to get around. At the current time, I use a four-wheel walker and am gradually moving from the walker to a cane full time. HSS also has affected my speech. My words run together, making it difficult for people to understand me at times. I wanted to find a way to improve my mobility, posture and speech. Earlier this year my neurologist suggested I see one of her colleagues who worked with the Baclofen pump. She thought I could benefit from having the pump implanted in my abdomen to deliver a medication used to treat spasticity called Baclofen directly into the spinal cord. This pump is the size of a hockey puck. The way the pump works is it has a catheter coming from the pump and leading to the spinal column. The pump then releases the medication either by having the medication continually flowing through, or in bursts every few hours. This provides an even flow of medication that keeps the muscles more flexible.  But I wondered, would the pump work for me? My doctor, not wanting to give me false hope, gave me the worst case scenario. She said it could take a couple of months to a year for me to show any improvement. Because my muscles are so tight and because the Baclofen pump was designed to help loosen them, I’d have to retrain the muscles to support my body. Even then, I might not see any improvement, the doctor warned. Fortunately, the worst case scenario didn’t happen. The same day of the surgery, I could feel my muscles in my hands and face begin to relax a little. At the end of the first week after surgery I was walking the halls with my walker and beginning the long process of physical and speech therapy. My balance has continued to improve as well as my posture. At this point I appear three inches taller than previously because my posture is so much more relaxed and I am not so bent over as I walk. The improvements are continuing as I exercise at home every day. My doctor will gradually increase the dosage of the pump. My speech improvements are even more dramatic. Despite many years of speech therapy, I have not experienced any significant improvements, until now. The Baclofen pump and ongoing work with a speech therapist have given me greater control of my facial muscles. I can enunciate words more clearly; thus, making it easier to understand my speech. I still have work to do, but I’m encouraged. I’m also determined. HSS has not held me back from earning two college degrees and it will not hold me back now. After eight years, a lot of hard work and help from others, I earned a bachelor’s degree in education marketing in 1995. I went on to earn a master’s of education in human resource development in 1997. I am the founder of an organization called Promote Awareness. By promoting the abilities of people with disabilities, I am able to show the able-bodied that people like me are much more than our disabilities. We can accomplish a great deal, when given a chance. The Baclofen pump is giving me a chance—to do more. I cannot say it will work for everybody, but I am glad I went through the procedure. If you would like more details or if you have questions about the pump, feel free to e-mail me through the Web site at www.promoteawareness.org. I will try to answer any questions that you might have.

PLEASE NOTE: See article immediately following for follow-up on Baclofen pump story for Michael Cohn.

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Michael Cohn, 35, lives in Minnetonka, Minnesota.

My son, Michael, who has NBIA, was encouraged by his neurologist to be tested for a Baclofen Pump implant to help alleviate some of his symptoms.

We were given quite a bit of information about the pump and Mike was told very clearly that it would involve a major commitment on his part. But he's an adult, and it was his decision. I still had doubts from the first time we explored this avenue, but supported his right to choose.

We were encouraged by the fact that the pump program had grown and matured
considerably. Mike chose the implant. So, on Sept. 11, 2001, while Mike was in surgery, I sat with several family members in the waiting room. The television was on and we watched with horror as the tragedy unfolded in New York.

Mike's recovery was very easy. The results were initially astounding! His speech improved dramatically. His walking steadied to the point that he was able to give up his walker and use a cane. However, these improvements began to diminish after about two months. We have recently learned that this frequently happens when the primary problem is spasticity. The pump apparently is more effective when treating the problem of rigidity.

So often we are told what to anticipate, but it's phrased in such bland, non-specific terms that we think, "Okay, we can do this." For example, when the doctor says, "You will have to monitor your child," we think, "Well, we do that every day, right?" Wrong.

Monitoring in this case means when you notice more rigidity, you must head back to the clinic for an adjustment. When the person is getting too little Baclofen, it's back to the clinic for an adjustment. There's no more just cutting back or increasing the number of pills. Yet, no one told us that Mike might have to go in for adjustments as many as two or three times a week.

A few months after the pump was implanted, the catheter separated from the pump. He had gone to the clinic several times because of swelling in that area and was told repeatedly that it was just a fluid buildup. It wasn't. It was the baclofen leaking. Mike had to have surgery to have it fixed.

The monitoring warning we didn't get was the most important one of all: When the pump is refilled or adjusted, you receive a computer printout of the dose, frequency, refill date, etc. Mike always brought them home and filed them. It never occurred to me to read them and because of Mike's vision, he wasn't able to read them.

On July 24, 2003, Mike had his pump refilled. Fortunately, he came home immediately after that. Within thirty minutes of his arrival, he was unconscious. Within three minutes of dialing 911, the police arrived, and the paramedics a few minutes later. Mike went into cardiac and pulmonary arrest.

The ambulance rushed him to a trauma center, which fortunately has a pump program. The doctors turned off the pump, as it appeared Mike was overdosing on Baclofen. We learned there is an antidote for an overdose. We faced two choices of treatment: 1) let the Baclofen work its way out of his system, or 2) administer the antidote knowing there was a significant risk of a heart attack. We chose the first option.

The physician who had set the pump that morning had made a huge error. It was supposed to be set to deliver a dose every six hours and was actually set to deliver a dose every six minutes. Mike remained unconscious for about 24 hours and was on a respirator. He seems to have made a good
recovery and the only long-term damage we are aware of is some short-term memory loss.

Now when he goes for an adjustment, he insists the physician or nurse review the computer printout with him before he leaves.

Still, Mike has decided to have the pump removed. We have learned that it will take about a year before that can be done.

I understand that the pump has been effective for some people. However, I would encourage anyone considering the implant to explore alternatives before making the decision.
 
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Trying new things can be scary when you are unsure of the results. In December of 2002 my ophthalmologist encouraged me to get BOTOX injections to help loosen the muscles around my eyes.  One of the symptoms of the disorder I have is that the muscles around my eyes spasm, causing my eyelids to close for extended periods of time.  This obviously makes it very difficult to see.  It was getting to the point where I was nervous leaving my home because I would suddenly be blind for a couple of minutes. It is quite unnerving when you can see one minute and not the next. 

People often ask me to describe my medical condition.  I have PKAN 2. This is a neuromuscular disorder that causes me to sometimes have very painful muscle spasms. Its effects reach throughout every muscle in my body from speech to vision to my walking. I have never let this disease cause me to hide from society so you can imagine what it was to suddenly feel afraid to leave my home. 

It took me a couple of weeks to come to terms with the idea of having BOTOX injections near my eyes. Now that I have had the injections, I wish I had not wasted those two weeks. I had always dreaded going to the ophthalmologist because the examinations were very painful due my eyes being so light sensitive.  Since the injections, I have had no problems when the doctor shines the light in my eyes.  The BOTOX has eliminated the spasms around my eyes, causing them to open wider as well as significantly reducing their sensitivity. 

Soon after experiencing the effects of the BOTOX injections, I began to ask my neurologist about the options of having injections elsewhere.  The first question I asked was whether or not BOTOX could be used in my cheeks or jaw to help my speech.  The doctor’s answer was “maybe”.  After having the injections in both areas, the results were definitely YES.  Immediately after having the injections, there was a noticeable improvement in the muscles around my eyes and mouth. The tightness in the muscles disappeared. I have not felt this relaxed or had this much control over the muscles in my face in many years! 

Because the BOTOX wears off in time, I am on a schedule to see the doctors every 3-4 months for more injections.  I am sure not everybody will have the same results that I have had with BOTOX.  However, I firmly believe that if you experience problems with muscle spasms or rigidity, you should discuss the possibilities of BOTOX with your doctor.

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Ken Stromsta, 14, at the beach in Naples, Florida. Ken and his family live in Shorewood, Illinois.	Ken held by his mom, Pam Stromsta, receiving HBOT treatments in Naples, Florida.

In our latest search to keep our 14-year-old son, Ken, pain-free and healthy, God has opened yet another door—hyperbaric oxygen treatments.

My husband, Al, and I adopted Ken when he was 10 days old. He was five weeks premature at birth and is our middle child—between Laura, 16, and Jeff, 13. Ken also is our special-needs child.

When he was 9 months, we were told he had mild cerebral palsy, despite being highly active. He seemed to come with an ever-charged battery and never stopped moving. By 2, he had developed a creative sense of humor. He’d race us to the basement steps in his walker to see if he could throw himself down before we threw ourselves in front of the door to save him. Or, he would let himself fall backwards and see who would catch him. Ken had no balance—and no fear!

Little by little, however, with each illness or injury, he would lose skills he had acquired. At 5, he was diagnosed with HSS. At age 7 he was hospitalized with aspirated pneumonia. There have been other scares, too. Ken has since had most of his teeth pulled, a broken leg and a feeding tube inserted into his stomach. At 10, he developed uncontrollable spasms that sometimes lasted an hour until the chloral hydrate took effect. That was the worst!

We sent our neurologist, Dr. Robert Engel, a video of Ken’s condition because he was in too much pain to travel. Within a week, Dr. Engel found a movement specialist in hopes that a pallidotomy would bring relief. It did. Two days after Ken’s brain surgery, we brought home a smiling new boy. The next year, we had the same surgery done on the other side of his brain.

Over the next four years, the spasms and dystonia reappeared. After hearing of a new alternative treatment on TV for cerebral palsy kids, called hyperbaric oxygen therapy, or HBOT, we started researching. We found it helped with dystonia and improved the immune system in some children. The treatment delivers oxygen to the brain and parts of the body, under increased atmospheric pressures, reviving dormant cells, decreasing swelling and carrying oxygen through the blood to areas where it is needed most.

However, it is not approved by the Food and Drug Administration, except for a narrow classification for which we do not fit. Consequently, most insurances will not cover it. But hope arrived in the form of new friends who held a fundraiser for us through the Elks Club. That helped us pay for the treatments, which range from about $65 in Canada to $200 in the United States. Our son’s treatment cost $100 per session.

After months of research and talking with many other parents, we got the OK from our neurologist and traveled to Naples, Fla., to see Dr. David Perlmutter for our first 20  treatments. Ken and I went into a long cylinder-shaped tube. We were brought down 25 feet below sea level, which took 15 minutes. Ken’s ears hurt and the next day tubes had to be put in surgically before continuing the treatments. After that, Ken didn’t feel a thing. I felt pressure in my ears the first 15 minutes when descending similar to what you feel on an airplane, though a little more uncomfortable, but nothing after that.

We spent one hour breathing the oxygen, 15 minutes back up to pressure and we were done. We did two sessions per day at 1.75 ATA which is the atmospheric pressure absolute which relates to the depth of pressure. Ken watched TV during the treatments. I noticed some changes right away. Before, Ken’s arm struck straight out and he slumped sideways in his wheelchair. After the treatments, his arm lay on his lap and he’s relaxed in his chair. He also uses his hands more, and his immune system is stronger. He tries to move on all fours and is very aware of his surroundings. Ken still has a bad day here and there, but I feel the treatments have helped and are worthwhile.

Kenny is currently receiving another 40 treatments here in Shorewood, Ill., to be completed on April 3. We are using a mobile multi chamber which treats up to 8 people at a time. The chamber is provided by American Hyperbarics, Inc. of Alabama.

Most clinics are on the coast and you must be careful to seek out a qualified mobile chamber and technician. I have heard amazing results from parents including seizures being cut in half and regaining speech. But there are risks and each parent should research this therapy before trying it. Also, because this is an alternative treatment, many doctors may not be familiar with it or supportive of families wanting to try it.

For more information on the hyperbaric chamber I would be glad to share any information I have. Another information source is Julie Gordon of the MUMS parent-to-parent newsletter. Gordon’s daughter has cerebral palsy and receives treatment. Gordon has a 300-page packet available for $20, which can be ordered from MUMS at (877) 336-5333. The Web site is at www.netnet.net/mums/.

A free video can be ordered from Dr. Richard Neubauer at (954) 771-4000.

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March 2000

Family Tries Alternative Treatments to Help Sons Cope with HSS
By Kris McGourthy

Kris McGourthy with her sons Matthew,2, Bobby, 7, and Michael, 11, in their backyard in Middleboro, Massachusetts.

Our son, Michael, was always a little clumsy. He had a slight problem with fine motor skills and walked on his toes for as long as we can remember. Around age 9, his hands started to curl slightly. We took him to a neurologist who said that Michael had “clumsy kid syndrome” and that a little physical therapy and occupational therapy would fix everything. It didn’t.

A year later, Michael was tripping and falling at school and having other balance problems. We took him to another neurologist. Then, last March, when Michael was 10 1/2, a phone call changed our lives. The doctor said Michael had Hallervorden-Spatz Syndrome. He advised us not to go on the Internet, but we read everything we could. None of it was very encouraging.

Then came the next blow. We learned that HSS runs in families and that Bobby or Matthew, Michael’s younger brothers, might have it. We knew in our hearts that Bobby would be affected and Matt probably not. Dr. Susan Hayflick of the Oregon Health & Science University confirmed our feelings. An MRI on Bobby at age 7 showed the eye of the tiger already. Bobby has had slight problems with speech and fine motor skills. Our neurologist said that if he didn’t have the MRI results and a blood test, he wouldn’t think Bobby had a problem.

Because we live an hour from Boston and have pretty good health insurance, we are lucky to have access to the doctors we need. We also are blessed to have a caring team to help us—from the staff at our schools to physical therapists to family. My mother recently packed up her home in California and moved here with her cat to help us with doctors’ appointments and other needs.

We have been through several doctors. Our first neurologist told us to do nothing and that he would prescribe drugs when we needed them. At one point, we were talked into doing a protocol with our boys as the subjects, but we do not advise doing this. We received no feedback from the other doctors and nothing came of it.

With help from my aunt, we looked into some alternative treatments. We started Michael on an anti-oxidant of grapeseed extract, pine bark and vitamin E. We slowly added more and gradually saw improvement. People at Michael’s school said they noticed his balance was much improved and wanted to know what drugs we had put him on. No drugs, we said, just the anti-oxidants and vitamins.

The boys now take about 12 vitamins a day to help protect the brain cells and build up the immune system. One thing we learned from the other families is that kids with HSS can get knocked down by a simple cold or flu. We are trying to prevent that. Michael has been sick with strep, the flu and a bad cold, but physically, he hasn’t lost any skills.

We have slowly told the boys about HSS. We started chelation for Michael last November and plan on starting Bobby soon. For the chelation, Michael is hooked up to an IV twice a week for an hour and desferal is pumped through him with the hope it will remove iron deposits.

Another family we know of tried chelation 20 years ago and the two HSS individuals are doing remarkably well. They used the shot form of desferal. We now know that desferal works best when given slowly through an IV or pump. We are doing this to protect against brain damage and buy time until a cure is found.

What has helped us most is contact with other families. One mom told me it would get better. She was right. I used to sit paralyzed each morning to see if Michael could still walk down the stairs. Slowly, we relaxed and decided to enjoy each day.

The boys are all healthy. Michael and Bobby even played football this fall. Michael however, is showing some progression of the disease. He has a harder time controlling his hands and arms. He stutters sometimes, but still feeds and dresses himself. Bobby doesn’t seem to be affected yet. We’re now taking both boys to a chiropractor, but it’s too soon to tell whether that’s helping.

My new goal is to help with the fundraising. If we could raise $50,000 we could give our first research grant to help our kids overcome this. I urge you to fill out the HSS Family Survey if you have not yet done this, so when a research program is started we can hand the doctor information on each patient.

I believe it’s important that we all find a way to stay positive and not let this disease rule our lives. We parents have to be the experts on HSS. There is a cure for this disorder. It’s up to us to help find it.

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November 1999
  
Family Has Struggled with HSS for 14 years
By Connie Jennings

Samantha Jennings, age 14 from Ottertail, Minnesota.

Our family’s roller coaster ride with HSS began 14 years ago when our precious daughter, Samantha Jo Jennings, was born. Although we did not know it at the time, we would learn later that she had been showing symptoms of HSS since birth. All we knew at the beginning was that something was terribly wrong.

The response doctors gave us most often, “Everyone is different so it’s hard to tell how things will go,” is not an answer to parents. It just creates more uncertainty. And, all the while, Samantha’s condition did not improve.

At 17 months, she was still not walking. By age 2, she had started to walk, but she was falling down constantly, sometimes as much as 150 times a day. Doctors said she was hyperactive and developmentally slow. We were not convinced.

Samantha’s speech became slurred around the age of 6. Finally, when she was 7, in 1992, she was correctly diagnosed with HSS. By age 10, in 1995, she could no longer speak. In January, 1996, doctors inserted a feeding tube into our daughter. Samantha was totally bedridden from mid-1995 till December of 1996. Then, we tried something new.

In December of 1996, after much research, we decided Samantha might benefit from a Bilateral Thalamotomy. In that kind of surgery doctors remove both the right and left sides of the thalamus, a brain structure important in coordinating movement.

At first, the results were amazing. Sam could sit up and talk once again. Her body finally relaxed without undergoing the spasms so many HSS patients experience. Unfortunately, the results quickly wore off. We were back to square one. Then Samantha’s condition worsened. She was having trouble breathing, and a trach was put in Jan. 24, 1997. A second Bilateral Thalamotomy was done on Jan. 26, 1997. By April, 1997, Samantha was mobile again and able to scoot around on the floor, and still has that ability today.

Samantha attends school three days a week, four hours per day. Any more than this makes her too tired. She uses sign language and understands everything anyone says to her. With assistance, she is able to ride horses, swim, go boating and ride a jet ski. She also loves movies, and playing with her cat, Tarzan, and her dog, Molly. She hopes someday to go ski diving.

For us, having a child with HSS has been a swirl of emotions:

* Grief for the loss of a normal childhood.
* Despair because we cannot control what is happening.
* Sadness when we see her left out because she falls too much or because she hugs too tight as she gets stiff and cannot let go.
* Guilt because our genes caused this.
* Frustration at dealing with doctors who are not the experts they think they are.
* Sacrifice for all the activities missed or modified to fit into our lives.
* Fear because of all the tough decisions we must make as her parents.
* Joy at Samantha’s determination to have fun, her infectious laugh and her smile that invites us to join in. 
* Faith because we know we cannot survive without it and without guardian angels to watch over our child.
* Gratefulness for the support we have found in family, friends and the medical community.
* Love - the main ingredient in our lives.

Despite all the ups and downs with HSS, Samantha has taught all of us, including her father, Bob, her brother, Joshua, and sisters Sara and Tiffany, unconditional love. We each have learned a lot from our wonderful Samantha, and our experiences with her have enriched our lives immensely.

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July 1999

Daughters Seem to Have Strange Form of HSS that Includes Remission
By Debbie Forstall

Forstall Family of Northridge, California.

Hallervorden-Spatz Syndrome — this unusual disease with the strange name — is now a part of my family’s everyday vocabulary. But the path this cruel disease has taken with my two daughters has been so unusual that at least one doctor has questioned whether they even have HSS.

It started almost 11 years ago when my oldest daughter, April Flinn, began having symptoms. She was 8 years old when she started to have trouble walking. It got so bad that within six weeks, she had to be put in a wheelchair. But strangely, April somehow improved. She was even able to walk again. It wasn’t easy, but she was determined to get out of the wheelchair. She had started stuttering, but it was not progressing. Her doctor said April must not have HSS. Since he couldn’t put a name on it, he would simply call it “The April Flinn’s Disease.”

The disease turned to my second daughter, Tracie, about five years ago. She was 11 when she started to have trouble with her arms and speech. Then came the uncontrollable spasms and the difficulty walking. Her symptoms progressed so rapidly and so severely that she was hospitalized for almost a month. During that time, she had a feeding tube inserted, and was not able to talk, walk, eat or function on her own. She was in that condition for almost three months. But, like April, she improved. Miraculously, Tracie made an almost complete recovery! She started walking, talking and eating on her own again. She was able to go back to school. She was doing so well she tried out for the track team! Her doctor was amazed and confused. This certainly could not be HSS, he said, because she got better, and HSS is almost always progressive. Who ever heard of HSS patients going into remission? Yet, Tracie remained in what appeared to be “remission” for almost 2-1/2 years. Then just as suddenly and severely as before, the symptoms returned. This time she ended up in the hospital for almost five months.

Today both of the girls are in wheelchairs. Although they can speak, it is increasingly difficult to understand them. They require assistance with much of their daily activities, but they are still able to do many things for themselves such as dress themselves with minimal assistance, brush their teeth and use a computer.   April had a Pallidotomy (a surgery where they place a pinhole lesion in the center of the brain in the globus pallidus) two years ago and it has helped with her movements. It also alleviated some of the rigidity and spasms. Tracie is suffering from severe Torticollis of the neck (twisting of the neck backwards and sidewards) and Botox injections do not seem to be helping. Tracie is scheduled for a Pallidotomy next month to see if it might help her also.

Last year we participated in Dr. Susan Hayflick’s study to try and get some answers. Even though our situation is different from what is typical, Dr. Hayflick said she believes my girls have HSS. It has helped so much to finally have a name to put to this disease.

Not knowing has been one of the hardest things for us. Now, after almost 11 years of feeling so alone in our situation, I have developed a friendship with another mother who has gone through the same emotions and struggles as I have. She truly understands. I have also become involved with HSSA. I feel that for the first time in years, I am not helpless.

My husband and I, like all of you, are dedicated to making the lives of our children as full as possible. We try to give them every chance to be happy and to achieve their hopes and dreams. The fact that our girls have good attitudes helps enormously. They never cease to amaze us with their constant smiles and the love they show to everyone they meet.

April is a senior in high school and graduated in June. She went to the prom and to grad night at Disneyland with a group of classmates. She enjoyed her senior year so much. She plans to attend college and says she wants to work with children. She has a half sister who is 6 years old and she absolutely loves to play with her. She also enjoys watching T.V., listening to her CD’ s, and going to school. She has many friends and everyone calls her “the girl with the golden smile.”

Tracie just finished the 10th grade. She loves animals. Her dream is to work at a veterinarian’s office. Tracie also loves to read anything she can get her hands on, especially mysteries. She also enjoys watching T.V., going to the movies, listening to her CD’s, entertaining family and friends and going to the mall. Tracie has a lot of spunk and keeps us all on our toes!

We are very blessed to have a great support system of family and friends. They are always there for us, to provide some free time for my husband and me, to lend a helping hand by pushing one of the wheelchairs to a doctor’s appointment, or just to listen. We treasure every moment with our children and have faith that we will have the strength to meet whatever the future holds.

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February 1999

Volunteers, Contacts, Critical for HSS Family in Poland
by Patricia Wood
 

Emilia and Szymon Jr. Draheim live in Poznan, Poland. Emilia is 14 years old and Szymon Jr. is 9. The age at onset of HSS was one year for both children.

Hallervorden-Spatz Syndrome has no respect for borders or families. It can strike anywhere, and it can hit families more than once. Szymon and Stenia Draheim are residents of Poznan, Poland, and the parents of two children with HSS. The Draheims have enlisted an army of volunteers to help them care for Emilia, 14, and Szymon Jr., 9, every day. Szymon says that  they would not survive without the help.

“As you know, we cannot stop the progress of their disease, but we try to do all that is possible to make them happy,” Szymon said in a recent e-mail to HSSA. “In a sense, it is very easy. You only need to talk to them, read them something, sing a song or take them outdoors. On the other hand, we are not able to do these simple things without the assistance of a lot of volunteers—many young girls, mostly students, some members of Poznan Palliative Care. We could not work without these very patient and brave people. They help us suction (we have to remove mucous day and night) and constantly keep a look-out for the children so they don’t get hurt. So, our fate is in their hands and sometimes, we have a sense of great dependency. It is not easy to be aware you can do something only because someone else is sacrificing her time. We want to believe that it is true when some of our volunteers say, ‘At this home, it is always possible to learn something new. ’”

The Draheims are looking for other families with HSS. When they learned of a family affected by HSS in Belgium, they got in their car last October and made the long drive from Central to Western Europe. “We do not know any other HSS family in Europe. So it was important to us to meet directly with people knowing personally the problem of HSS,” Szymon said. “The discussions were very needed and interesting.” The couples have stayed in touch.

The Draheims took their children to Venice in September, courtesy of the Lions Club - Rotunda Poznan, as well as Novol and Merc Companies. They collected a series of new and joyful memories. “I agree with what Dianne Gray wrote in the second HSSA newsletter,” Szymon said.  “‘Now’ is much more important than ever before.” On the trip to Italy, “Emilia and Szymon Jr. for the first time in their lives swam in the sea, sailed on a boat and went sightseeing in Venice. It was a great, new experience for them.”

For now, the Draheims said they will continue to seek out HSS families closer to home and to rely, as Blanche DuBois once said, “on the kindness of strangers.”

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October 1998

Adult Copes with HSS
By Thomas Hayes

I was 22 when I was diagnosed as having HSS in December, 1991. An MRI scan showed iron deposits in the part of my brain called the globus pallidus. Some of the problems I developed as a teenager began to take on a new context. It started with a stuttering problem that gradually got worse. I also became unsteady walking and would occasionally lose my balance.

Now that I’m 28, I continue to have both of these conditions, only worse than  they were 10 years ago. From what my father and I have read about HSS, my symptoms are not nearly as severe as what many of you are familiar with. The experts tell us it’s because I have a late onset version of the illness.

For treatments, I have tried Carbidopa/Le and Eldepryl. Neither has been helpful. On the positive side, I was tested for allergies by  Serammune Physicians Lab in Reston, Va. The idea is to avoid weakening the immune system, which is what happens when energy is spent fighting allergies. I was told to change some of my eating habits to avoid allergic reactions, which I believe has left my immune system at full strength, thus slowing the progression of HSS.

Along these same lines, I am also taking a nutritional supplement PBGS+, offered by Shaperite, a mail order pharmaceutical company, to further strengthen my immune system. In less than two months I have seen improvement in controlling my balance and in stabilizing my condition.

I’m not a doctor, and some of these things may not work for you or your loved ones, but these natural treatments have not given me adverse side effects.

My dad is a big believer in the “power of positive thinking,” and I have embraced that philosophy as well. I accept my limitations and have learned to live with them and find things I enjoy doing. My dad says we all have some kind of handicap; the secret is learning to live with it.

I enjoy a variety of activities; reading science fiction books, watching TV, going to the movies, playing science fiction fantasy games with my friends, something I started in high school. Best of all, I frequently use the computer to communicate online with others. It is so great being able to express myself and share thoughts and feelings with others. That hasn’t been so easy in the past because of my speech problem.

Through all of this, I was able to complete my bachelor’s degree in journalism, and with help from a job search company that assists people with disabilities, I got a night shift computer data entry job on a temporary basis.

I’m back in college taking a graphic design course that I believe will add to my computer knowledge and make my skills more marketable. I’ve found that I really enjoy the artwork involved in the course, which proves, once again, there are things out there we can enjoy. All we need is the desire and the support to keep looking for them.

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October 1998

Father Searches for Answers
By Jim Hayes

Thomas Hayes and his dad, Jim, work together in the kitchen of their home in Ben Lomand, California.

I know some of you caregivers have it much harder than I do because of Tom’s late onset of the disease. But I’ll never forget how devastating it was to read about the illness and its typical progression.

As a scientist who has spent years solving problems, I knew that was the way I had to respond. After getting over the initial depression, I started collecting lots of literature on HSS. I even contacted people working in the field trying to crack the mystery of the disease and find a cure.

This hasn’t been easy since I’m not a medical expert. The more I read, the more it appeared to be a very complex problem for which any successful treatment would take a long time to emerge. After recognizing this and listening to some good friends, I decided the best thing was to strike a balance between helping Tom cope and keeping myself up-to-date on the medical research.

Looking back, I feel that was the best decision I could have made. Tom and I, along with other members of the family, are now working with Dr. Jane Gitschier at the University of California at San Francisco, and Dr. Susan Hayflick of Oregon Health & Science University. They are in the process of determining the genetic defect responsible for HSS.

Tom and I are very pleased to be involved in this exciting research and we are hopeful successful treatments will be found. We know it will be awhile, but we are committed to enjoying the many gifts life has to offer.

May all you be blessed by being able to find things you can enjoy despite HSS. Have faith and remember, “Where there’s a will, there’s always a way.”

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Austin Gray from Naples, Florida.

Many of us remember dancing as teenagers, first learning about the concept of “leading and following.”  Never did I think that the concept would apply to my own life with such accuracy until December, 1995.  That was when my son, Austin, just three weeks shy of his 4th birthday, was diagnosed with Hallervorden-Spatz Syndrome.

Since that time Hallervorden-Spatz Syndrome has taken away my son’s ability to function unaided.  He is unable to use his arms or legs and cannot speak any longer.  Clearly, one could say that this disease is “leading” and at best, Austin, his three-year old sister, Christina, and I are “following”. As we adjust to a skill or function disappearing, changes in Austin’s body require us to adapt yet again as something else vanishes.  During one three month period, Austin lost the ability to use his hands and I felt this disease could surely not produce anything else more heartbreaking as I watched him struggle to play with his toys. We adjusted as a family learning to feed Austin, yet we were still so grateful to communicate with him, hearing his laughter and his jokes.  Listening to him trying to read brought immense joy.

However, Hallervorden-Spatz Syndrome would once again “lead” taking away  Austin’s ability to talk within the last six months.  Again, we would “follow” learning to receive incomprehensible amounts of pleasure from hearing him laugh at whatever humorous event occurs at that moment.

So although we have learned to be followers, trying to keep in step with Hallervorden-Spatz Syndrome, we have also learned to lead, vowing to never let this disease remove joy and love from our lives.