Second International HSSA Family Conference
 May 31 to June 2, 2002
at the Radisson Hotel in downtown Indianapolis, Indiana

HSSA’s Second International Family Conference in Indianapolis May 31—June 2 attracted 70 people from 15 states and five countries, including a German film crew that documented the experiences of one of our participants from Germany.

In addition to the broadcast journalists, some of the 23 families brought other guests with them to learn more about HSS. They included a family physician, an instructional aide, a special education teacher and therapists who work with HSS children in public schools.

Topics covered in the 10 sessions included genetic counseling, a research update and treatments, all which will be discussed in this newsletter. The families told us in 2000 they wanted more time to share information and talk among themselves, so time was built into the weekend to learn from one another and to socialize.

One of the highlights was a dinner Saturday night on the hotel’s rooftop where families mingled and relaxed with each other. Many stayed to chat long after the dinner was over and the music had stopped.

The researchers at the conference not only presented their work in sessions but were extremely busy behind the scenes. Every family at the conference took advantage of the opportunity to meet one-on-one with the Oregon Health & Science University team of researchers. The team of Dr. Susan Hayflick, Dr. Penny Hogarth and Jason Coryell consulted with families, examined patients and answered their questions. The families also gave back: many allowed the researchers to take blood and urine samples, which will significantly aid the team’s research efforts.

Based on the evaluations received, the vast majority of participants said the conference exceeded their expectations. They also offered suggestions for future conference topics: more technological information, ideas for keeping HSS patients operating at maximum potential, support for non-affected siblings, and a discussion on how a child with special needs affects marriages.

Through the generosity of our sponsors, the conference expenses were covered and we did not have to drain our general fund for this expensive undertaking.  We also were able to offer six partial scholarships to HSS families to attend through our Scholarship Donor program, making it a huge success. Many thanks to all of you who supported our efforts and helped make this conference one to remember.

Since discovering a key gene that causes HSS, Dr. Susan Hayflick and her team have a greater understanding of how the disease works, but they have many mysteries left to solve.

Speaking at the recent HSSA conference in Indianapolis, Hayflick said that researchers have determined that about half of HSS individuals (including the majority of individuals with an early onset of 2-3 years) have a mutation of the PANK2 gene. They have designated this disorder as PKAN, a specific form of HSS. Individuals who have early developmental delay with the movement disorder appearing later in life are much less likely to have PKAN. In these and other individuals without a mutation in PANK2, some other mutation in a different gene is believed to be responsible.

Everyone with the PANK2 mutation studied to date has the classic “eye of the tiger” sign. This produces a distinctive MRI picture with the iron buildup on the brain. “Eye of the tiger” is not seen in patients without a PANK2 mutation, even though there are still iron deposits indicative of HSS. Researchers still have no idea how iron accumulates, or why the disease can be different from one sibling to the next.

In children with classical HSS, the PANK2 gene isn’t working; it’s turned off, Hayflick said. In adults, the gene works but the product it makes is altered or insufficient.

The disease moves more slowly in adults than in children, Hayflick said. “Kids have a more severe disease,” she added.

Researchers also now suspect that HSS patients have too little coenzyme A (CoA) in the parts of the body most affected by the disease. Vitamin B₅ is a precursor to coenzyme A, which is the reason this supplement is being tried as a treatment. CoA is necessary for cell metabolism throughout the whole body, and unaffected cells of the body likely have alternative methods of producing CoA.

Although there are reports of at least one doctor trying to inject CoA directly into patients, Hayflick urged caution and said she could not suggest people try that therapy. “What I worry about is moving in those directions without knowing whether it is working,” she said.

Researchers must first develop ways to measure the brain and body chemistry of HSS patients so they have an objective measure of a treatment’s effectiveness.

“We need to approach it in a systematic way and say, ‘Yes, it helps,’” Hayflick said. Researchers also have to demonstrate the treatment is safe.

She said in about six months, she expects her lab to bring patients to Portland and start devising a system for measuring disease severity and progression.

Hayflick also is taking a year’s sabbatical so she can devote the lion’s share of her time to HSS research. “My goal,” she said, “is to lick this thing.”
 

Educating HSS children requires a team approach

One family at the conference brought a team of educators, including a special education teacher and a speech therapist to the conference, highlighting the importance of having a group of professionals working together to meet the special education needs of children with HSS.

“You’ve got to have a total team and that team is built on trust,” said Donna Baumgartner, a special education teacher from the Niskayuna School District.

Not all public school administrators are eager to deploy all of the many services the child might need, she said. In those cases, know what the law requires, and use it, she advised.

One parent in the audience said that confrontation is tough. “We don’t always know what our rights are, and you want to be polite,” the parent said.

Baumgartner told the families to be persistent. If they think the child needs a certain piece of equipment for learning, demand it. “You’re your own best advocate,” Baumgartner said. “Nobody’s going to work harder for your child than you do.”

She acknowledged, however, that even educators can have a hard time meeting the needs of their students.

“It’s a fine line I walk as a special education teacher between what I think is best for the child and what the school will do,” Baumgartner said. “I feel like I’m the first line of defense for your kid.”

The Niskayuna team was eager to help their two young siblings with HSS and made a home visit so they could better understand the disease and how best to reach the children in the classroom. Then, they did an assessment to plan a strategy for teaching and therapy.

One question schools need to resolve in HSS children who can’t speak is “What do they need to communicate in their world?” said speech therapist Michelle Ryan-Rivers of the Niskayuna district. Her HSS student needed a board with pictures the child could choose with her eyes to tell the team what she wanted.

The goal is to mainstream the child in regular classes, figure out how the child learns and teach to that child’s strengths, Baumgartner said. Pull-out classes are a chance to work one-on-one with the child to develop certain skills.

In addition to speech and language therapy, the child might also need occupational therapy to sharpen fine motor skills, handwriting, drawing and visual skills.

A physical therapist might be called in to assist with body control, posture and body positioning.

In all of this, the parents work with the team as partners. “We’re in this together,” Baumgartner said.

Kris and Mike McGourthy of Middleboro, Mass., are living proof that one family can make a big difference in the fight against HSS.

The McGourthy’s raised $30,000 last year by organizing and hosting a family fun day in their community. That’s enough money to award a research grant to one scientist working on HSS.

HSSA plans to award $90,000 in grants this year and hopes to do the same next year. But that won’t be possible without more help, said Patty Wood, president of HSSA.

“We need every family,” Wood said. “Don’t think you can’t do anything.”

The McGourthys plan to reprise their fun day fundraiser this year, and several HSS families expressed an interest in traveling to Middleboro to take part. Other families spoke of holding fundraisers in their cities. Scott and Rhonda Mayfield of Claremore, Okla., said they want to host a golf tournament.

Wood tossed out other ideas for fundraisers, including a wine tasting, variety show, casino night and dinner/dance. “If we’re going to get money out to those researchers,” she said, “it’s up to us to do it.”

“We’re all in the same boat,” Kris McGourthy said at the conference. “I had to do something that I felt was helping.” Two of Kris and Mike’s three children have HSS.

Working with a close friend, the McGourthys organized their family fun day in about 10 weeks, an amazingly short, though stressful, time frame.

They went to churches, spoke to friends, approached local businesses and ended up with donated water, hotdogs, soft drinks, prizes and much more. “You get it all donated,” Mike said. “When you put something together like this for kids, you wouldn’t believe the outpouring.”

The McGourthys also went to the media to tell their story. The local newspaper did a page one article about the family and HSS. Wood encouraged other families to do the same. Also, she said, ask to speak at meetings of local civic organizations and clubs.

Mike and Kris initially had concerns about the publicity because they always guarded the privacy of their children. But the experience was positive, and they found many people eager to help, Kris said. “It was more of a comfort than I thought it would be,” she said of the media attention.

For the fundraiser, Mike said they worked with law enforcement officials to get the necessary permits for the picnic and other activities. They also made sure there were no major running events that same day to compete with the run they hosted.

HSSA has insurance that will cover liability during fundraisers.

While there is no cure for HSS, there are treatment options, ranging from brain surgery to drug therapy, said Dr. Penny Hogarth, a neurologist and assistant professor at the Oregon Health & Science University specializing in movement disorders.

Two brain surgeries used to curb movement disorders in patients with Parkinson’s disease — pallidotomy and thalamotomy — are options for HSS patients. Both procedures involve making a small hole in the brain and creating a lesion in either the globus pallidus or the thalamus.

Deep brain stimulation, in which an electrode is implanted in the brain, also is being used to control tremors in Parkinson’s patients.

But the FDA has not approved the use of deep brain stimulation in children at this time, Hogarth said.

All three procedures have had mixed success in treating Parkinson’s patients. Several HSS patients have had pallidotomies, but the benefits seem to wear off over time. One parent at the conference said her child has had four pallidotomies and benefited each time.

Before having brain surgery, Hogarth said patients should consider the short and long-term risks, including brain bleeding, stroke, seizures, infections, cost and whether insurance will cover it. Deep brain stimulation can cost from $80,000 to $100,000, Hogarth said.

Another treatment for HSS patients is the Baclofen pump, which releases medicine into the body and relaxes spastic muscles, Hogarth said. A parent at the conference said the pump did not help her daughter, but another HSS patient said it made a big difference in his life.

Botox, which is made from the same toxin as botulism, also is an HSS treatment option. It relaxes muscles after being injected and is safe and effective. However, the treatment lasts only about three months, it’s expensive and is less useful when larger numbers of muscles are involved, Hogarth said.

Some HSS patients at the conference said they tried hyperbaric oxygen treatments, also with mixed results.

Parents discussed other therapies and equipment during a “Show and Tell” session.

HSSA president Patty Wood told parents that con- fronting the need for a feeding tube was an emotional barrier she had to cross. “I used to spend eight hours a day feeding my daughter,” she said. “I looked at my daughter one day and saw a skeleton.” She knew she had to try something else, but like many parents, Wood saw a feeding tube as a defeat. “Feeding tubes are not the end of the world,” she said she soon learned. “They are indeed a lifesaver.” The challenge is to know when to start the tube feedings, Hayflick said.

Some parents also need to decide when — or if — a tracheotomy is necessary. “Realize you are the experts,” Hogarth said. “We learn from you all.”

Most of the pain in HSS stems from the movement disorders, Hayflick said. Sometimes, patients are in pain because they have a broken bone or a urinary tract infection.

Hogarth recommended taking a “trial and error approach” on when to give medications to ease pain.

“We have high-maintenance children,” said Mike McGourthy, the father of three, including two with HSS. “But I wouldn’t change anything. They’re normal kids who have some issues.”

Other parents echoed his remarks. “God gives us the child we’re meant to have,” said Carla Wylie, mother of a child with HSS. “I was meant to be Jacob’s mother.”

Wylie, McGourthy and other parents offered advice and shared information about some of the therapies and equipment they have tried. Their suggestions included:

A computer program called Freedom 2000 for help communicating

Chelation therapy to sweep out impurities from the body

Vitamins and supplements such as B₅, antioxidants and grape seed extract

Head and neck cushions custom made to help with head control problems

A triangular-shaped cushion called a “wedge” to help reduce the need for suctioning.

Hand splints to keep fingers from curling and wrists turning in

Proper nutrition, including lots of water

Stretching, rest and pursuing as normal a life as possible.

“You think it’s the end of the world” to have children with HSS, McGourthy said. “It isn’t. Everyone has got to learn to adapt. Don’t stop living. You’re not only going to cripple yourself, you'll cripple your kid."

Genetic counselors, a relatively new breed of geneticists, are becoming increasing important in today’s health care environment, especially for patients with Hallervorden-Spatz Syndrome.

Genetic counselor Jason Coryell, who spoke at the 2nd International HSSA Family Conference in Indianapolis, said his role is not to diagnose disease but to act as a liaison between doctors and researchers. As a genetic counselor and a research coordinator in Dr. Susan Hayflick’s laboratory at the Oregon Health & Science University, Coryell provides support to families and helps them make decisions about HSS. He also helps parents understand the risks of passing the gene on to other children.

Everyone is a carrier of genetic mutations, Coryell said. “No one’s DNA is perfect.”

Carriers run through generations and probably will never know they have a mutation, unless they marry someone with the same genetic mutation and pass the affected gene on to their child.

“With recessive conditions (like PKAN), an error on one gene but not the other will not cause disease,” Coryell said. “You have the condition when you have two non-working genes. Each parent of a child with PKAN has a single copy of a mutation and are referred to as carriers. Carriers have normal health.”

About half of those who have HSS have a mutation of the PANK2 gene, which Hayflick’s lab, in collaboration with Jane Gitschier’s lab at the University of California San Francisco, discovered last year. All patients with HSS have accumulated iron on the brain which can be seen in an MRI. However, people with mutations in PANK2 have a characteristic pattern on the MRI known as the “eye of the tiger.” The “eye of the tiger” sign is a dark spot on the MRI representing iron deposits with a light spot in the center, probably representing cell death or additional fluid in the cells. Patients with mutations in the PANK2 gene are now said to have a form of HSS called PKAN, or Pantothenate Kinase Associated Neurodegeneration.

Genetic testing can confirm a diagnosis of PKAN, but it won’t help a doctor predict the patient’s prognosis nor does it change the course of treatment, Coryell said. If the genetic test is negative for PKAN, the patient can still have HSS, although another gene is involved.

PKAN genetic testing is now being done at the University of Chicago and can also be done on carriers. For carriers, in vitro fertilization (IVF) is an option with genetic testing on embryos prior to implantation. Only healthy embryos are implanted, preventing the mutation from being passed on to siblings, Coryell said. But the procedure is expensive, ranging from $10,000 to $15,000 per round of IVF, and the chance of achieving a pregnancy is only 25-50% with each round. An alternative option is prenatal diagnosis during the pregnancy, through amniocentesis or chorionic villus sampling.

Gene therapy may one day be the solution to HSS and other conditions, but it “is not right around the corner,” Coryell said. “It’s only been successful in a few conditions, but there is hope. There has been a lot of improvement in the past decade.

Jason Coryell can be reached at phone: (503) 494-4344 or e-mail: coryellj@ohsu.edu

For genetic testing, contact:

University of Chicago Genetic Services Laboratories

Toll free: (888) 824-3637

E-mail: ucgslabs@genetics.uchicago.edu

Web site: www.genes.uchicago.edu

Being a caregiver to a loved one who is ill is sacred work, but many who do that work often forget an important lesson: they need to take good care of themselves, too.

So said Neil Schaefer of VistaCare, a hospice and daily living program in Indianapolis. Schaefer, who led a session on caregiving at the conference, said people who take care of others need to make sure they don’t neglect themselves. He brought points home in a video that said caregivers must get sufficient sleep, exercise, food, support and respite time away from the patient. In other words, if you’re a caregiver, love and pamper yourself. Be your own person, establish boundaries and maintain a sense of separateness from the person who is sick.

Some families told Schaefer they feel guilty when they leave their children with nurses, to carve out some time for themselves. Schaefer said they shouldn’t because caregiving is stressful work. Some family members said they found activities to relieve their stress, such as horseback riding, embroidery, racquetball, softball and reading.

Schaefer also provided handouts by James E. Miller, including “When You’re a Caregiver,” “When Crisis Has Changed Your Life” and “An Affirmation of Those Who Care for Others.” These handouts can be found at www.willowgreen.com, along with other information on being a caregiver.

The National Family Caregiver Association also offers these tips for dealing with the stress of caregiving:

Recognize your own needs and limitations

Be flexible and balance your life

Be assertive and ask for help when you need it

Prioritize your problems and/or activities

Develop a sense of humor

Develop a hobby, exercise, or play a sport you like

Express your emotions in a healthy way, allowing your feelings to come out at the time you are feeling them. That keeps them from building up and becoming uncontrollable or explosive.

Spend time with supportive people

Learn to relax by taking mini-breaks during your day and using imagery such as imagining taking in energy as you inhale, letting out problems and stress as you exhale, or imagine yourself in your favorite spot (eg ocean, mountains, woods, etc.)

Take time to enjoy life and yourself

Focus for the future

The final session at our recent conference in Indianapolis was HSSA’s Focus for the Future. HSSA’s first five years have been ones of becoming established and building an organization from the ground up. The next five will be ones of continued growth, expanding our influence and playing a more prominent role in research.

With two successful family conferences under our belt, we are planning to hold future ones every two years. The next one will be in 2004 at a site that will be determined later.

As a sign of our growth, HSSA’s database of families has ballooned from a handful to 112, representing 18 countries. We also now have 63 HSS families participating in our Networking Program and would like to get even more families involved in this important source of support and helpful information. The Networking Program links families with each other via phone, e-mail and letters, so please let me know if you are interested in signing up.

HSSA’s goals include establishing a physician referral network and raising more research dollars through community fundraisers. The physician referral network would be a list of physicians from many different locations that are treating patients with HSS and can be a source of information for each other on emerging treatments.

Our success in funding more research grants depends on you. Please consider sponsoring an event, such as a golf tournament, family fun day or bowling tournament. Because of you, we expect to award $90,000 in research grants this year.

HSSA filed a 990 with the IRS for the first time in 2000. A 990 is required once an organization receives more than $25,000 per year in donations. The financial statement for 2001 was available for all to examine at the conference. Thanks to all of you who have donated time and money to HSSA.

As many of you know, we will be changing the name of HSS and HSSA in the near future. NBIA, which stands for Neurodegeneration with Brain Iron Accumulation, will be the umbrella term for the disease, eventually replacing Hallervorden-Spatz Syndrome. The disorder is being renamed because of the unethical activities of Drs. Hallervorden and Spatz during WWII.

With the new name will come a new logo and tagline that reflects our progress. We welcome suggestions for all of these. We hope to be able to start 2003 with a new look and a new identity.

As we move forward, we are committed to serving HSS patients and their families. We welcome your continued support to make HSSA stronger and more responsive to your needs.  

Second International HSSA Family Conference Sponsors

Tony P. Venuto

Victoria Stapleton

Charles & Diane Murdock

Jason Murdock Family

Pam Speaks!

Tom & Mary Tapke

HSSA Conference Sponsors attend Saturday evening dinner
and receive thanks for their support from HSSA President.
 

Charles Murdock, Diane Murdock, HSSA President Patty Wood, Jason Murdock, Shane Murdock, Laura Murdock, Vicky Stapleton. The Murdocks reside in Indianapolis while Vicky is from Cincinnati, Ohio.

Patty Wood with Keynote Speaker and Sponsor, Pam Burks of Pam Speaks!, located in Indianapolis, and Board Member and Sponsor Mary Tapke of Cincinnati, Ohio.

Tony P. Venuto, of Cincinnati, Ohio, was our major sponsor for the family conference. He passed away on Jan. 23, 2002. He is shown here on his 78th birthday with his daughter, HSSA President Patty Wood. His granddaughter, Kimberly Wood, is 16 years old and has HSS.