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Rare Disease Day 2020

Stories and photos shared on Rare Disease Day - February 29, 2020


GeorgiaGeorgia

"Georgia is our beautiful daughter who was recently diagnosed with Beta Propeller Protein Associated Neurodegeneration (BPAN). She is two years old and has been a huge blessing in our lives. We started noticing some difficulties she was having at around 9 months old when she began falling behind in hitting her milestones (such as crawling and walking). That began our year-long journey to determine the cause. She currently sees speech, occupational, and physical therapists that support her growth in learning to talk, walk, crawl, and eat. Though she does experience more struggles than many of her peers, that isn’t what people remember her for. They look at her and see a beautiful, happy little girl who makes you feel as if you’re the most important person to her. She’s so special to so many people, and we are extremely blessed with an amazing support of family and friends. We are certain this unique journey she is on will be one in which God will use for great things! Georgia, you are so loved!"


DylanDylan

"Our daughter, Dylan has BPAN, a variation of NBIA (Neuro-degeneration with Brain Iron Accumulation), which is an extremely rare degenerative and life-threatening disease with no current treatment or cure. Dylan is very impacted by this disease, and continues to suffer from seizures, severe developmental delays, intellectual disability, and significant difficulty communicating. There are researchers around the globe working to understand this horrible disease with the hope of identifying possible treatment and finding a cure. They need our help! By donating to the NBIA Disorder Association for Dylan, you can help raise the money we need to make critical progress. Remember, RESEARCH = HOPE!"


DahliaDahlia

"Since Dahlia was 8 months old, we were concerned there was something wrong. She was a little floppy, wasn’t sitting up yet, and she did a funky thing with her eyes; she would look out of the corner of her eyes up at lights or sunshine through the window and turn her head all the way to the side while keeping her eye on the light, similar to stimming. She also wasn’t reaching up to us, nor pointing on time. She was, however, very attentive, engaging, vocal with babbling and laughing, loving, social, very much present in our world. This seemed to stump doctors and therapists a bit, because it didn’t appear to be autism. Nor did they think it was Cerebral Palsy. We did an MRI at 16 months, which showed delayed myelination, but that didn’t bring us to any sort of diagnosis, and there was a chance it would catch up. Of course, we hoped for that. She also had a thin corpus callosum, but we learned that many typical people have one too.

We did a microarray test early on, and were relieved to hear nothing was off there, same for metabolic testing. She was testing inconclusive for all her hearing tests, but we believed she could hear just fine, she was just hypo-responsive to the beeps and sounds, they likely weren’t interesting enough for her to turn her head to.

By 12 months old, Dahlia was in Early Intervention and going to Physical, Occupational and Infant Stimulation therapy a few times a week. I still had hope she would catch up.

Around then, I was worried she may be on the autism spectrum. I laugh now, thinking that I was so scared of that word. I just wanted a typical daughter so badly. What I would do now for a diagnosis of autism (not to downgrade the difficulties autistic kids and their parents can go through, but something non-degenerative would be a dream come true).

After she was about 20 months, not walking and without any real words, the panic and dread really set in. I knew something was wrong. She was also now hitting herself in the face a lot, often fussy and frustrated (likely because of the disability to vocalize), had one hand in her mouth often, shrieked and screamed for fun, sometimes flapped her arms, and rocked a lot. I feared things like Rett Syndrome and Leukodystrophy, or other things where the person got worse over time and died early. I specifically remember telling my friends, “whatever it is, fine, I can take it, but please don’t let it be degenerative or regressive”. I googled every syndrome I could find. I looked up all the kids I could find with symptoms like Dahl’s. I inspected Dahlia’s hands, fingers, eyes, ears, palette in her mouth, trying to find a connection to a disorder or disease. I became obsessed, anxious, up all hours of the night on my iPad reading things and getting worked up.

We had done whole exome sequencing and had to wait two months for the results, but we weren’t really expecting to get an answer, as only 25% of patients get a result from that test. But I got the call April 30th that she had a mutation on her WDR45 gene, and as the geneticist was telling me on the phone “let’s not worry yet, I have to do more research, let’s meet tomorrow” I was on google reading rapidly. I found instantly that it did not look good. We met with her and a counselor the next morning, and she concluded that what I googled was correct: it’s a neuro-degenerative disease, called BPAN, an NBIA disorder. She may not walk or talk, she will be intellectually disabled, and if we’re to rely on the pattern of other BPAN patients, the worst of this disease will take over and ravage her, drastically, as young as age 12 – 25, and she will die early.

We were floored. We just sat there, not knowing what to do or say. It felt like we were in a bad movie, not knowing how to react to such horrific, devastating news. I could tell the doctor and counselor didn’t really know how to end the meeting. Was there supposed to be sad music playing over their script? Was I supposed to crumble to the floor, screaming “No!” and sobbing, and were they going to grab me and hold me as I moan and cry? We just sat there, in a plain small conference room, nothing but a box of Kleenex on the table, quiet, the ladies being as nice as they could but basically repeating the facts over and over, and murmuring condolences, and Branden and I just kept…. sitting there. I think we almost didn’t want to get up because that would mean accepting it. Easily the worst day of my life. We left the building, went outside to our cars, and the world kept operating. I remember that startling me.

It was hard to come home to look at Dahlia. It was extremely hard to look at her, hold her, and picture all the things this disease would do to her. It was hard to see Teddy, healthy, happy, playing away, and picturing him not having the sister we hoped for. I no longer could see a brother and sister growing up together, being a year apart in school, razzing each other until the end of time. It was hard to look at my husband and see the raw pain in his eyes, to hear him cry on the phone to his father in the garage, and knowing he’s crying as much as I am when we’re alone.

I cried almost every moment of every day for weeks after that. I truly had tears in my eyes 24/7. I burst out crying and choking on sobs the second I would leave work and walk to my car. The largest two thoughts in my head were “I do not want this in my life.” and “how dare this happen to an innocent child”.

Unpacking that: Yes, truly, the heaviest thing in my heart was that I did not want a disabled child. I did not want to raise a child who was mentally and physically handicapped. I strived for a great, fun, happy life, and this screwed up my plans, and I was distraught over it. And pissed off. All my hopes and dreams of how I would raise a daughter was gone. I didn’t want to be a special needs mom. I didn’t want to wear the rally shirts, do the fundraisers, the special Olympics, take her to therapy and befriend the other special need parents. I did not want to be in that club. And it was extremely difficult to grasp that not only was Dahlia disabled, she was to get worse, and die from it, likely before I die. Was this a joke? How much crueler of a disease could this be? How much more of a sad outlook of a life could we imagine for ourselves? And I asked myself, would it be better if she were to just die sooner, now, before she grows up and we have to do so much for her, see her learn some things, then lose them all, suddenly regress, be in a wheelchair, feel pain, then soon die? Which would one prefer? 30 years of a rough sad life or a couple years of an easier life, both still ending in tragedy and heartbreak? Would I feel more pain losing her now, or losing her when I’m 70? Admitting that I wondered that is hard to write here.

I was so mad this happened to her, and that this happens to other kids. Having no chance at a healthy long life from day one and based on no one’s doing. Just a fluke in genetic operation. No cure, no true treatment, just zero shot to get past it or fix it, currently. So many people get to be born with little to no problems, cognition and abilities on point, and they take it for granted. I was mad about parents with healthy kids, especially the one with multiples, that they escaped BPAN more than once. I was also mad about parents fretting that their kids have a speech delay, or bad eyesight. I was even mad about the parents with kids with cancer (I’m really being honest here, please bear with me), because at least there was a plan, a treatment, and a chance at getting better and having it behind you. To be clear, I wasn’t mad at other parents, but I resented that they just got lucky, most of them. That their life would likely be infinitely easier compared to mine. That they got into a different club, the “typical” club, the club you plan for and hope for and really, expect to be in when you become a parent. This was my clearly my anger stage.

I sat there, angry, for almost a month, keeping my head down at work, not talking to many people, not wanting to see my friends. I averted my eyes when I saw toddlers Dahlia’s age. I muted most mom friends on Instagram. I was active on social media about it because it did help my mood to raise awareness and funds for BPAN research, and it was easy because I didn’t have to be face to face with anyone. My birthday and Mother’s Day passed, and each day was like an ugly, sad, dreadful gray cloud, that still didn’t quite feel real.

As each day passes, and especially after my return from the NBIA conference, I feel a little bit stronger. I met some amazing, strong, smart families, who are living their lives to the fullest. I feel a little bit more hopeful that we can manage to make our lives all still happy ones. That we all deserve that. That Dahlia is here and she’s happy and loving and sweet and gorgeous. That she has an incredible brother who also deserves a happy, healthy, positive mother. My husband deserves the same. And me too, I deserve to still have a life, to still have hopes and dreams I can fulfill, to still let loose, laugh about stupid stuff with my friends, indulge and waste time watching reality TV, and raise my kids as I intended to, to be kind, loving, happy humans.

And slowly I came around to realize that we all take the same chance when we want a family and conceive. We all take that leap of faith and develop a fetus in us that we just can only hope will be healthy, and beyond the medicine and science we can control, it’s just out of our hands. A mom with a healthy kid could have just as easily had a kid with BPAN, and she’d be in my shoes, or worse shoes (I realize there are worse diseases and life outcomes than BPAN). Those that want to become parents are opening themselves up to also being in my shoes and are equally vulnerable. We all volunteered for the same job here. Suddenly, I felt a lot less alone when I thought of it that way. Being a parent is the most selfless act, the hardest job, and in a way, we’re all in this together, doing the best we can with the deck of cards we were dealt. We all chose a seat at the table and we all took a hand. So really, we are all in the same club.

Dahlia is the sweetest, cuddliest, chunkiest two-year-old around. She is walking, and signs about 6 signs now! She loves music, Minnie Mouse, and reading books. We are so proud of her and we love her so much. Although I hope for a day where BPAN is a wiped-out disease, we've adjusted to our new normal and see Dahlia as our perfect Earth Angel."


KinleeKinlee

"Kinlee will be 4 years old Feb. 27, she is my granddaughter that I have had custody of since birth. I also have had her sister since birth, and she will be 6 in June. I am a pediatric nurse and noticed Kinlee was not holding her bottle, rolling over, sitting up and reaching many milestones in a normal time frame. She started speech, physical and occupational therapy around 20 months, MRI’s, EEG’s and genetic testing at 2. The first MRI showed some abnormal development, the EEG showed consistent silent seizures. We repeated the MRI a year later that showed normal and the EEG was still abnormal. On September 25, 2019 after many genetic tests the geneticist ordered a Trio Xome Sequencing. On January 9, 2020 we got the results that test showed a mutation in the WDR45 gene. She was diagnosed with Neurodegeneration with Brain Iron Accumulation (NBIA), there are several types and she has Beta Propeller Protein Associated Neurodegeneration (BPAN). Even with her developmental delays I never expected to receive such devastating results. Kinlee did not start walking until she was 3 and has progressed so much in the past year. She can only say about 6 words that I can understand but trust me she knows how to let you know what she needs. She is now on Keppra for the silent seizures, enrolled in special education at school, in all therapy groups and we just give her all the love we can. Kinlee is smiling when she wakes up and when she goes to bed, always happy and playing, she is a blessing and so is her older sister that loves her dearly and helps take care of her. I pray every day for a cure, and I know it is in God’s hands."


SarahSarah

"My daughter Sarah is 23 years old. She was diagnosed with BPAN on Valentine's Day 3 years ago. Until that point she carried the diagnosis of Spastic Quad CP with autistic features. Sarah showed very early delays and then unfortunately her slow development plateaued at age 3. By 5 years old she had regressed and lost most of her accomplishments. Sarah has never crawled, walked or spoken. She has always been a healthy child however she did require bilateral hip surgery at age 6. Over the years she has benefited most from Aqua Therapy and Therapeutic Riding. She always had home-based schooling, which was perfect for her, the school environment was too noisy, chaotic and unpredictable. She is considered legally blind but can read if the font is large enough. She developed occasional seizures in her mid-teens and only recently did sleep issues begin. In fact, in the last 6 months, sadly, there have been signs of increasing decline. She has lost function of her right hand, ability to roll over, and coordination of her tongue when eating. A GTube was placed a month ago.

Sarah is very happy and joyous; she has a great sense of humor and loves to go anywhere at all in the car. She loves music-especially Celine Dion, Judy Garland, Barbra Streisand and opera in general. She thinks life is great and that's all that really matters now. She lives at home with me, her mom. Her two older brothers live nearby and are very involved in her life. She has always been a huge blessing for us in so many ways."


JordynJordyn

"Jordyn was born on April 18th, 2002. She was four weeks early but was ready to meet her two older siblings. It wasn't until Jordyn’s 1st birthday that she ran a very high fever and had multiple seizure. Three weeks in the hospital after numerous testing they sent us home with an epilepsy diagnosis with medications to treat it. At 18 months they told us she had muscle delays especially fine motor delay which we started physical and occupational therapy.

At 30-months-old they gave her the diagnosis of cognitive delays and speech apraxia. Which we started ABA and speech therapy to support. We completed genetic testing at this time with no findings. We went on for five more years with progress and setbacks. Many more medical tests and more genetic testing which all came back with no findings, as BPAN wasn’t even discovered until 2012. As parents we went through parent denial and depression and were happy with how far she had come with the diagnosis she currently had.

She could communicate her wants and needs through a limited but effective vocabulary, she could walk though she never ran, she could hold a color or pencil to draw and write, she was potty trained (finally at 8 years old), and above all she was happy. It wasn't until she was 17 years old that our neurologist suggested another round of genetic testing. My thought was why not anything to help her and also her older sister was thinking about starting a family, so hopefully it would alleviate any concerns she had.

What we were not suspecting was the diagnosis of BPAN that came December 13th, 2019. My 17-year-old is miss socialite, she is happy, she loves to go on hikes, she loves food, she loves to sing and so much more. And now I was being told that everything we worked so hard for she was going to lose and quickly. She was going to get to the point of not being able to walk, not being able to talk, not being able to eat, and to start being confused about places, people, and things. We were told the 50-60 years we thought we had together was going to be cut down to maybe 10-15 years if we were lucky. As parents we went through parent denial and depression all over again and swallowed what we had just learned.

Though now I am glad we didn’t know right away; I would have not pushed as hard for Jordyn to meet her milestones when she was younger and get as far as she has come. She has such a higher quality of life now and we view things day by day. Soaking up every smile and every laugh. Every “mom (I don’t want to go to bed. One more) movie please!” We live for the now and we cherish every second we have."


SamanthaSamantha

"Samantha is our amazing four-year-old, she is also a rare disease warrior. On July 27, 2017 she was diagnosed with BPAN at just 20 months old. Every day she faces struggles and she does it with a smile on her face. Samantha proves every day that even the smallest can be mighty."





Harper

Harper"This is our beautiful & comedic daughter Harper! She absolutely lights up the room with her infectious smile, fun loving personality & music has been a very important factor in her life since the day she was born. I began to notice something wasn't quite right about Harper's behavior around 3 months, but it wasn't until she had her first massive seizure at 10 months of age that we really started to wonder what could be causing her to be delayed and bring on such devastating seizures. We spent the next few years trying to get answers as to why she had so many different types of seizures, also why medication wasn't working. She was diagnosed with Epilepsy, Autism, intellectual disability & Developmentally delayed. In April of 2018 we finally got her diagnosis of BPAN ( Beta- Propeller protein associated neuro degeneration). Since that day we have been trying to wrap our heads around her uncertain future. As of now she is a very happy 5-year-old, she definitely has her moments, but we take it one day at a time. She can walk, run, and loves to jump on her trampoline. Harper is non - verbal but with the help of Speech, Occupational & Music therapies she is communicating and finding her words. Although they are not very clear most of the time, she has come a long way. Harper is the light of our lives and we couldn't not imagine living on this earth without her. Until our last breath we will be by her side fighting this fight💗 All families affected by these devastating disorders will forever be in our prayers."


SawyerSawyer

"Sawyer is a lively, happy one-year old boy that loves nothing more than to snuggle and laugh. Sawyer's diagnosis came quite early. Sawyer and his twin sister Sadie were born 2 months premature in January 2019. Sawyer immediately began showing signs of respiratory distress and was placed on a ventilator after being resuscitated. Within a few hours his right lung collapsed. During the x-ray for the pneumothorax the pediatricians in the NICU noted a "strange ballooning in his esophagus". A nurse practitioner, whom we became quite close to, joked that "he just needed to burp!". Within 24 hours Sawyer's left lung also collapsed which required additional x-rays. The ballooning in his esophagus remained. Over the following weeks there were additional x-rays performed, CT scans, swallow studies, and endoscopies. After weeks of leaving everyone scratching their heads, we finally received a diagnosis of Achalasia of Cardia or Esophageal Achalasia. Though it is extremely rare in children, approximately 1 in 500,000-1,000,000, it is nearly unheard of in newborns. Essentially, the lower sphincter in his esophagus does not function causing food to build up and not release into his stomach. This contributes to the ballooning seen on his scans. With very little literature available our local gastroenterologist took on the challenge and has followed Sawyer since. He had a feeding tube placed prior to leaving the NICU which remains in place today. He is currently in feeding therapy and is making wonderful progress towards being able to eat solids. Though we know surgery to correct the Achalasia is inevitable, we are not sure exactly when that will be. For right now we are thanking God for our sweet boy and letting him take the lead in showing us all he can do!"


AnyaAnya

"My name is Alexis and I am a 28-year-old mother of 3 fabulous kids.

My children are age 6, 2 and 4 months, and have been my world since I became a mother. Like most mothers I have so many dreams and aspirations for my children. It was on December 4th, 2019 that my whole world was flipped upside down and I felt all the dreams I had for my children had been crushed.

Before I can tell you what our life has turned into, I must start from the beginning.

Anya had challenges even before PKAN. I feel this disease has been stealing my little girls’ functions bit by bit.
Around the time Anya turned 1 year old I felt something may have been wrong, she wasn’t meeting milestones most 1-year old's do. She didn’t walk until almost 3 and even then, was extremely clumsy. She would fall down so much and for no particular reason at all and she couldn’t run or jump like other children her age. She received therapy and wore braces on her legs and feet, but it didn’t seem to improve much. It wasn't until we moved from Chicago to Indiana and I was able to procure her more therapy services that I began to see improvement in Anya. Once in Indiana I had opportunity to collaborate with our local school to ensure a safe learning environment that accommodated her special needs, they provided her with a chair with a belt so she wouldn’t slip out and a para person who accompanied Anya everywhere in the building. After my daughter got acclimated to her new school setting, she began to excel and even her teacher commented on the improvement she was exhibiting. Anya was working so hard and was excited to learn and improve.

I had just got home from having her new baby brother( mid-November) when I noticed something was not quite right with Anya. Her speech had become slurred, she was unsteady on her feet, and her movements seemed involuntary. I began taking my daughter with my newborn and 2-year-old in tow, to various Dr.'s and specialist looking for answers they all told me my daughter was fine. I would go home every time feeling defeated and helpless. The stress of a sick child that you’re not sure how to help compounded by having a 2-year-old and a breast-feed newborn was more than I could bare. I thank GOD he gave me the strength to continue my search for answers. I started taking her to Emergency rooms in Indiana and Chicago and was turned away, told to take her home she is fine. Her rapid health decline and unusual behavior without explanation didn't seem "fine"... I was angry and upset and so confused, in my heart I knew this was not true, my daughter was not fine! Even though I was turned away a few times ( 3 total) I made one last effort and took her into Christ Advocate Hope Children’s Hospital in Oak Lawn, Illinois. Upon speaking with triage and informing them of our situation they admitted us right away. The doctors took no time in coming in to speak with me and to look at Anya. I anxiously waited with her newborn baby brother in tow for almost a week. They did a complete work up on her and discovered something called the eye of the tiger in her MRI which is how they figured out what was happening to her.

On that cold December day Anya was diagnosed with a Neuro Degenerative brain disease called Classical Pantothenate Kinase-Associated Neuro Degeneration or for short PKAN.

Classic PKAN is a rare, genetic inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system. These features can result in clumsiness, gait walking problems, difficulty controlling movement, and speech problems( all of which she had already had symptoms of )

My daughter went from walking, eating, going potty , bathing, playing & just doing everything normal kids do to not being able to walk , sit up, or feed herself. Her speech has declined, she is unable to do simple activities or functions without help.

We have a new reality now.

Anya experiences dystonia, (sustained muscle contractions causing repetitive movements), dysarthria (abnormal speech), muscular rigidity, poor balance, and spasticity (sudden involuntary muscle spasms). She’s currently on 3 different medications to manage her symptoms all of which have nasty little side effects that we do our best to cope with.

Despite all of this and more Anya starts each day with a smile and barely complains even though she is in a lot of pain and discomfort most of the day.

We are not going to give up hope or the fight against classical PKAN. I will follow my daughters fighting example and start each day with a smile and I will try not to complain because tomorrow is not promised, and positive energy and encouragement is what she needs from me."


LexiLexi

"Let’s start from the beginning……

Lexi Fae was born on March 8, 2016. She was a healthy beautiful baby with a head full of curls, and no complications. Lexi was very cute and sweet from the moment she was born. Her first few months of life were typical however she was unusually quiet for a newborn. Most mothers would be thrilled that their baby was barely crying or fussing in the middle of the night. At 7 months, I recall waking up my husband Tommy at 3 AM in the morning to tell him I just know something is not quite right with Lexi. Sadly, my intuition was right. Due to the lack of motor skill development and hitting typical milestones, we had her evaluated by numerous doctors and early intervention team. Lexi qualified for Early Intervention. It was a bittersweet moment. We were happy Lexi was getting support from many therapists, but our gut instinct told us this is only the beginning. The revolving door of Physical Therapy, Speech Therapy, Occupational Therapy, ABA Therapy, and Music Therapy continued until Lexi was 3 years. All of these therapy sessions were good for Lexi. These therapists are moms and sisters and aunts. They genuinely cared about our little girl and wanted to see her succeed. In those first 3 years, Lexi was able to finally sit and stand at 18 months and take her first steps at 25 months.

My favorite, treasured moment was Lexi’s first smile at 9 months! That memory still warms my heart!! No first words yet but I know they will come eventually. During all of these therapy sessions and regular life activities, we had doctor upon doctor visits, hospital stays, blood tests, Seizure evaluations, medication routines, basic genetic testing and the list goes on. This is a lot for an adult let alone a 3-year-old. Lexi handled everything like a champ. Majority of the test results came back normal yet inclusive for explaining Lexi’s delays.

The one test that took our insurance many months to approve was whole exome sequencing (WES). This test cost more than $20,000 but we felt it was necessary and fought hard to have this test approved. The test was done Dec. 2018 and in March 2019, we received a call that the results were in. Tommy and I were not prepared at all for what we heard. Our flippant attitude going into this appointment was because we were so conditioned by all of the other doctor’s appointments in the first 3 years of hearing the medical community could not explain why Lexi is the way she was.

On March 18, 2019, our lives turned upside down. The genetic testing revealed that Lexi had an ultra-rare genetic disorder. It was a mutation on gene WDR45, also known as BPAN. My head was spinning, and the walls were closing in as the doctor was speaking. I experienced my first ever anxiety attack. Thank goodness, Tommy was able to stay calm and gather the important details of the condition. The good news if there is such a thing at this appointment was that Lexi's gene mutation is not hereditary and our 5-year-old son would not be affected.

The bad news and there is lots of that……………… is that this is a neuro degenerative disease which will limit Lexi in many ways. She will lose ability to walk, communicate, eat and have Parkinson like effects as she grows older. Seizure management will be a regular lifelong requirement. There is no cure and no clinical trials. Lastly there are only 100 or so children in the world that have this rare disorder.

Even though I am surrounded by such a great family and friends I still could not function and spent 2+ days crying…. the tears would just not stop. My family reminded me that Lexi is still the same beautiful, sweet girl that has the best curls and longest eye lashes ever! Hearing Lukas say to Lexi, “stop giving me hugs and kisses, I am trying to watch my show!”……………. that is when I realized everything is still the same. This diagnosis does not change the fact that we are blessed.

What’s happening today.... In April 2019, Lexi started a full day special needs school program She is liking it and I am adjusting to the new routine. She now gets her occupational therapy, speech therapy, and physical therapy all at school. She also loves hippotherapy and loves her horse, Duncan. She is currently learning how to use a device to ask for things. Even though Lexi Fae does not speak words, our family and friends get understand her. Her big brother Lukas tells his friends that he and Lexi have a "secret language and I get her!" Every day we fall in love with Lexi more and more. She still loves to give out free hugs and kisses to anyone that wants a wet one!

In the area of research and clinical trials, it is limited. This disorder is so rare that any large pharmaceutical will not invest the time and money to save these 100+ kids. The tenacity and drive of friends and family is the main method to create awareness and raise money for individuals with BPAN. I firmly believe together we can raise awareness and money to make a difference and improve the quality of life for these children. We cannot stay idle and do nothing! Please come together and help make a change."


BhavinBhavin

"Bhavin (aged 39) was diagnosed with NBIA (PKAN) in 2012. It took us almost two years to give our questions an answer. It was extremely shocking but felt relieved on the other hand because we finally knew what was wrong. Although we felt helpless because there was nothing we could do about it. Bhavin struggles with his speech, walking, eating and dystonia; however, his strong will and smile makes things perfect. We have two wonderful boys aged 13 and 10 without who we may not have got this far, they have been our hidden pillars of strength unknowingly. Can’t thank god enough for the immense love and support we’ve had from family and friends. A big thank you to all the researchers for their time and effort. We hope that our prayers are answered soon, and a miracle is on our way."


Josie
Josie

"I was three years old when my sister, Josie, was born. After a year it became clear that she wasn’t reaching milestones that most babies do. Her favorite word was, “eee” which meant anything from she wanted something to a whole story she couldn’t quite communicate. I used to ask, “When will Josie be able to play with me?” My mom had no answer, and now, at age 18, I can only imagine the frustration that question brought.

In second grade, I remember giving a class presentation about Josie’s disease. My mom helped me piece together things doctors had told us so far, but it wasn’t a diagnosis, it was a guess. We wanted answers, but doctors didn’t have them.

When I was about to start middle school and Josie was eight years old my parents applied to the Undiagnosed Diseases Program at NIH. This felt like our last hope, and we were beyond excited when Josie got in. During the week in Washington DC, one of my parents and Josie would go through fifty million tests and exams while the other parent and I went sightseeing around the U.S. capitol. This “vacation” was one of the best family adventures I have ever had! Don’t worry, I did my part by giving blood on my birthday so my DNA could help in the search for a diagnosis.

A couple of months after our visit to NIH, we got a call: Josie had Infantile Neuroaxonal Dystrophy (INAD). Not only did the NIH give us a diagnosis but they also gave us an amazing resource: the NBIA Disorders Association which has connected us with many other families who have gone through similar experiences.

It is extremely difficult to come to terms with the fact that my sister will keep losing abilities, or that currently there is no cure, or that Josie will always require a ton of work. I have changed many of Josie’s diapers, gotten her dressed, fed her, brushed her teeth, helped to get her in her stander, gotten her in pajamas, and cheered her up countless times.

Today, Josie is 15 years old; she can’t crawl, she can’t see, and she speaks at a slow pace. I sometimes wonder how my life might have been different if Josie did not have NBIA. Then I realize that I would never want to give up my perspective of what it is like to have a sister with special needs especially because it would mean missing out on her special abilities. Even though Josie is limited, she has brought so much joy into my life. She is caring, has the best smile, and is always willing to give a hug when I’m having a hard day. She loves to laugh, and her laughter is loud, contagious, and pretty much the epitome of happiness. Josie is one of my best friends. She is the best sister I could have asked for and I love her so much."


TonjaTonja

"I met Tonja (she has NBIA PKAN) four years ago when she came with her mother to the swimming therapy-Halliwick. She was very exciting and of course me too. After a few months she became a very good swimmer and she starts to compete with others in Slovenia, Croatia and Austria. She enjoys time swimming friends. We see that her serious illness is in slower progress."





Juliana

Juliana"Juliana is 17 now. She began to have uncontrollable body movements around toddlerhood. We went to many doctors, hospitals, & widely respected movement specialist. Along the way she was diagnosed with Asperger’s & Bipolar. Every single doctor said that she did not fit any movement disorder they had seen. Juliana would say that her constant movement controls her whole life. Years went by of no answers yet progressing movement. I had begun to search for an answer in 2005. NBIA was not yet on the radar of most of the physicians we saw. In 2018 at 15 years old, the body movement were so constant & extreme that they leave her sweaty & very tired. At that point she had an MRI to check a cyst. We weren’t overly concerned about this test. That’s when it happened. Sitting on my couch trying to google the words in the report. It hit me like a brick. After all of these years we now know there is iron accumulation in her brain. My mind kept repeating “oh my God metal poisoning, all this time”. Poisoning her brain. We were not prepared for all this would mean, for right now, for her future. She is a high school senior. We had to make major changes to her school day (cutting it in half) her after graduation plans. Her ability to walk the distance of even grocery has been weakened. She now uses a power chair for distances. She suffers frequent falls and goes days on end without sleep. Her brain doesn’t have to the energy to even produce the sleep chemical needed.

This is not what Juliana had planned. We have no idea what will come next for her health. We do know that she is always pushing forward, always searching for the joy & although this disease may get her down, she never stays down."


JulietaJulieta

"When Julieta arrived in Montevideo, Uruguay on September 24, 2001; I was 23 years old. Her father and I had been together for five years and she made us so happy! When Julieta was 15 months old, we started to notice unexplainable changes in her.

These same changes were also noticed at her daycare, so we decided to take her to a neuro-pediatrician. This was the beginning of a cruel and painful process, through which we could see our daughter “disappearing” month by month and nobody could give us an explanation.

When Julieta turned three, she had to stop going to preschool. I quit my job and I would spend my time with her at home, going to medical and therapy appointments. Those were exhausting times, so many tests and no answers. A lot of fear and uncertainty; everything changed dramatically - our social and family life and our relationship as a couple.

In 2016, still without a definite diagnosis, the first opportunity of an experimental treatment abroad arose. We grabbed on to it even though it wasn’t a definite solution, but it helped improve Julieta’s quality of life and it gave us hope.

In November 2018, the INAD diagnosis was confirmed. For a while now, doctors had been explaining to us the possibilities, the expectations and the care. We learned a world of things, among them that we were strong, and our daughter was strong, and that we were ready to fight for her life till the end. We are not aware if there’s another case like Julieta’s in our country. It was only in 2019, when we were recruited for a clinical trial in the U.S., that we met other families in the same situation. When it comes to rare disorders, we believe that spreading awareness and getting an early diagnosis are crucial.

Today, Julieta is eight years old, and we’re grateful to have her with us. We hope her case will help others in the near future. Thank you!"


MatiasMatias

"My sweet handsome son Matias was diagnosed at age 2 after he regressed and wasn’t able to crawl walk and talk it took a lot of blood test and genetic testing to finally get the answers of what was going on with our son! He is now 9 1/2 years old and over time now has a feeding tube as well as a tracheostomy and scoliosis! He is in a wheelchair and needs 24/7 care in which I provide for him. Even through all the hospital stays and back and forth to UC Davis where we receive all his care and help from his amazing doctors, he is still a happy boy and is healthy overall, his disease will not stop him from being him, he is very loving and sweet and happy as he can be everyone loves him and he is a very strong boy, he is my inspiration and I wish to be as strong as him!! He needs a nurse to attend school and he loves school and all the interaction from his classmates he loves hearing all the students talk and laugh. He loves to watch his movies and be read to and enjoys getting loves from his family members. We all love him ❤️. I hope there will be more hope for a cure for this horrible disease! 🙏🏼For a cure!!"


KimberlyKimberly

"Kimberly is 33 years old and has idiopathic NBIA. She has been tested for every form of NBIA, had whole exome done multiple times, along with mitochondrial genetic testing and other tests to try and find the gene causing her disease. She may be the only one in the world with her form of NBIA - making her one of the rarest of the rare!

She was only 14 months old when she started showing symptoms and was diagnosed at the Mayo Clinic when she was 3. We were with hospice from 4 - 6 years old, but then we realized she was stronger than any doctors believed, and she has continued to hang in there through rough spots over the years and is very stable right now. The disease has taken away her ability to walk and talk, she has a g-tube, trach, and bipap machine at night to help her breathe, and she relies on others for all her needs. But she is happy and strong and mentally alert.

I feel blessed every day to have her in my life.


KinsleyKinsley

"Our story began when our daughter was around 7 months of age when she stopped hitting milestones. Our pediatrician said give it time. She’s just going at her own pace. As each month passed, we became more and more worried. Our pediatrician finally agreed with us that she was indeed behind. He referred us to a neurologist. The neurologist ordered an MRI which showed her gray matter was not as developed and she had a thin corpus callosum. He was not worried at the time due to some children just being behind and eventually it would correct itself. She received the diagnosis of Globally Developmentally Delayed at 1 year of age.

Another year had almost passed, and we did not see any more gains. All of our doctors asked about seizures and we said we do not believe she is having any. I stayed home with her one day and she had a cluster of seizures and I could not calm her down afterwards. Kinsley has always been a happy and easy child. I began googling seizures and watching videos of other kids having seizures. (I have spent many long nights combing the internet comparing my daughter to others and praying I would find an answer. I was desperate for answers.) After searching for about an hour, I came across a child doing the same slight head drop as Kinsley. I was stunned! And so mad at myself! How can a slight head drop be a seizure?! If you blink, you would miss it! She has been doing this since I could remember, and in front of so many other people and doctors. I called our Neurologist immediately asking for an EEG. We were in within a week and the EEG came back with showing she did, in fact, have seizures. We met with the Neurologist and he then diagnosed her with Left-Hemiplegic Cerebral Palsy. Kinsley was 2 years old. We were so relieved we had an answer. I thought, ok I can deal with this. There is a ton of info available and doctors are very familiar with it.

Prior to realizing she was having seizures I made an appointment with a Developmental Pediatrician to continue my search for answers. I decided to keep the appointment after her 2nd diagnosis. The more people to help us navigate CP the better. We met with her team of therapists and they did an entire eval on Kinsley. The pediatrician spent over an hour with our daughter and asking us a multitude of questions after the evals were complete. She had a few concerns stating Kinsley’s muscles didn’t quite match up with CP. Her right side is definitely weaker, but she still utilized her right hand and was a transferring pro with toys. She was also concerned because usually children with this type of CP are generally mentally healthy. She decided to order several DNA tests. When we left her office, they had been closed for over an hour. I will never forget thinking to myself that this woman was a Godsend! The love and concern she showed for our daughter were overpowering.

5 months later and we finally receive a call from a geneticist. She wanted to meet with us in person to go over the results. I remember walking in feeling anxious, but never did I think we would receive the news that we did. That one appointment changed our lives. Our daughter had BPAN. I remember sobbing uncontrollably, and the worst is that the Geneticist didn’t even have that much info. She pulled some papers from a study done in China that was in scientific terms and was impossible for us to follow at the time. (Now I feel like we are pros and can read and understand scientific medical jargon) She knew that there were less than a 100 cases worldwide but the one thing she did state that would be the one word I took from the entire appointment was that it was “Regressive”. CP is not I kept saying over and over wishing that they were wrong, and our daughter did have CP. So many emotions overwhelmed my husband and me. Our life was a blur for the first few months after receiving her new diagnosis just shy of her 3rd birthday.

Fast forward to today, and we now have a 6yr old. Kinsley is still her happy, laid back self. Her 4 favorite things, in order, is kisses (lots of kisses), swinging, reading, and swimming. She is non-verbal, does not walk, her seizures are under control with meds and is still around 9 months mentally. We have OT, PT, and speech twice a week. We have 7 specialist we see throughout the year to help guide us with her health and each of those specialists are now very familiar with BPAN. For us, that is a HUGE win! We have had very few gains in the last couple of years, but she works harder than anyone I have ever met! She has definitely become a little bossier in the last couple of years! We love and adore her. We live in the now and try not to dwell on what her future may hold. Don’t get me wrong, I will fight until my last breath on this Earth to banish this disease. But, all considering, she is happy and healthy. She was sent her to teach us to love unconditionally, to be thankful for what you have, and to not dwell on the what if’s and why. She is our angel and honestly our saving grace. I never realized the strength and determination we had until this little girl entered our lives."


BarbaraBarbara Claire

"Our daughter Barbara Claire started slowing down at the age of 29. 9 months later she gave birth to Lawrence, who is now 4 years old. At first, she was still driving and could take him to toddler groups and the park. Over the last 2 years she has deteriorated so much she can no longer play with him; her hands are clawed inwards. She can't walk unaided, feed or dress herself and is struggling to eat and now her speech is affected. We are desperate for support or help to improve her quality of life as my husband and I also both work full time as well as caring full time for Barbara and Lawrence."




NailaNaila

"Naila is someone who will love you, no matter who or what you are. And, just in second or two - the magic is on you, because you are in love with her too. Her favorite color is blue, favorite animal - dog/husky and dearest toy - Pikachu. Naila lives in Bosnia and Herzegovina, she is 24 and has NBIA- MPAN form. She is real Iron girl, the strongest one! MPAN took her ability to walk but will never ever take her ability to be a sunshine, to bring happiness and share smiles, hugs and kisses - to me and you - no matter who or what you are, imagined or real.

"Everyday that I wake
something wonderful waits for me
the sunshine of your smile,
that I what I wake to see.
Outside maybe gloomy,
dark clouds may mar the blue,
but then I look around,
and what do I see,
the sunshine of your smile,
that warms the heart of me.
No tears of sorrow,
at what tomorrow might bring,
because your face is lit up,
with the sunshine of your smile."
by David Harris"


ElijiahElijah

"This is Elijah McBurney. He was diagnosed with BPAN when he was 19 years old. He is now 23. He began his life quite normally, reaching his milestones on time his first year. He was walking at 13 months and just slightly behind in his language skills at that point. At 18 months he got sick with a fever and had his first seizure. His language was also falling farther behind. He was put into an early childhood development program and was diagnosed with pervasive development disorder NOS. He made small gains like eating with utensils at age 5 and by 12 he was beginning potty training. This took two years and still requires reminders from time to time. He began to show weakness on his right side and was determined to be left-handed. He was very skilled at tossing a ball accurately and had good balance skills. At a young age he took an interest in DVD and VHS movies and he never leaves home without an arm full of movies. He has become quite a collector owning hundreds of children’s DVDs. He is proficient in the use of his iPad and owns 4 so that one is always charged and ready to go.

After his devastating diagnosis we became concerned about keeping him strong and started him working out regularly with weights at a local gym. He made exceptional gains over the two years that he spent going to the gym and also learned how to use the Concept 2 rowing machine. Recently he had become moody and difficult to take out of the house, so we started him on Prozac and purchased a rowing machine for him to use at home. This plus use of our home gym equipment daily has brought Elijah back to being more like his happy lovable self. He is truly a blessing for our family, and we want nothing more than to find a cure or treatment for BPAN before it steals from him all of his abilities that he has spent his whole life learning to enjoy."


MalachiMalachi

"My son Malachi was born April 28, 2016 he was a happy baby boy. He was cruising around couches, sitting up by himself , playing and talking. At 14 months Malachi was not able to do those things anymore. I was told he will be fine at 18 months I asked physician to send me somewhere else and they did. We started going to Vanderbilt to see specialists for genetics and began genetic testing. May 13, 2018 was diagnosed with INAD. He can say a few words and now is fed by gtube and some purée. He has had his tonsils and adenoids removed. He attends therapy once a week during winter months. I have currently been Malachi care giver at home for the past 8 months. Malachi is still a cheerful happy boy who is loved by everyone. My pray is that God will find a cure for not just Malachi but for all who has been diagnosed with this disease."


EverettEverett

"Our NBIA story began with a BPAN diagnosis for our oldest son, Everett in 2013. Everett was not meeting his developmental milestones and eventually started having physical signs of complex seizure disorder. For more than two years we thought Everett was only ten in the whole world with this diagnosis. This isolation changed when I came across the post from a mom on a seizure disorder support group. Her daughter also has BPAN. She directed us to the researchers of NBIA. Since then we have been able to meet other families whom empathize with our normal daily lives. We continue to fight for Everett's ability to hold onto the progress/gains he makes. They are small but always wildly celebrated.

Currently Everett is in 2nd grade and is the oldest of three boys. He most recently scored a (highest possible) passing grade on a math assessment using his TOBII Eyegaze communication device and multiple-choice style testing. BPAN now has hundreds of diagnosed individuals around the world. We may know little about BPAN, as it was only discovered as a syndrome after Everett's birth, but we hope to help the future Everett's of the world get these answers, all while enjoying most of the miracle of Everett's life."


GráinneGráinne

"Gráinne is our only child. She is now 10 years old. The first time we suspected anything was when she was about two years old and a developmental check indicated she didn't have as many words as she should have. We thought nothing more of it as the nurse wasn't overly concerned. Up to that point she had reached all of her milestones albeit she walked a little late at 18 months. By the time G reached 3 we had a different concern. She had started this odd hyperventilating behaviour which took us to the GP and then on to the paediatrician. Then commenced 7 long years searching for an answer, she went from possibly being autistic to having dyspraxia, to cerebral palsy to a clinical diagnosis of early on set cerebellar ataxia to a final definitive diagnosis of atypical INAD PLAN. G in that time has regressed from being able to walk, feed herself and draw to not being able to do any of those things but despite all of that she is the happiest child and every day surprises us with a new turn of phrase and is our whole reason for being.

We try not to think about the future and take life one day at a time. It is great to be a part now of the NBIA community and to hear and be able to relate to other people's stories across the world. As far as we know G is the only one in Ireland. Like everyone else we dream of a cure for this terrible disease."


ClaytonClayton

"Clayton was born in 2017 from Hong Kong. In August 2017, I found that Clayton was slower than children of the same age. Later, I discovered that Clayton had more problems, I was so lost at that time, I could only shout secretly in the middle of the night, I knew I couldn't do it.

When Clayton was 14 months, I met the move physiotherapy center-Raymond Cheung, so I saw the sunshine ☀️ so that I can take the initiative and hope to help Clayton all the way. At the end of 2019, Clayton was diagnosed with a rare genetic disease Neurodegeneration with Brain Iron Accumulation 5 (NBIA5), there is currently no effective treatment for NBIA in the medical profession."




PattyPatricia

"I just found 6 month ago that I have Neuroferritinopathy (an adult onset NBIA disease). All the symptoms were there about -5 years ago, I guess. For years I've had bad chorea of upper body and neck and worsening all the time for years speech and swallowing problems too. ( I have EDS another DNA defect so that's two of them which is so rare I can't believe) and four auto immunes. My walking is getting near impossible, very close to a mobility aid. I am virtually bed ridden and the isolation, distorted communication and aloneness of this is very daunting. I try to keep spirits high."




SophiaSophia

"Sophia, who is now 13 years old, had grown tired and frustrated having to endure the 82-mile round trip into the Texas Medical Center for frequent blood draws, visits and testing. She had not been diagnosed at the time and we were desperately searching for answers that could explain the source of her severe cognitive delays, worsening physical symptoms and increased seizure activity. She was having up to 15 absence and focal seizures a day, which no one had yet identified as epilepsy. Trying to be a strong mother and wife, I would hide away in my bathroom and weep as silently as I could. Sometimes I’d wail out in my car when I was alone wondering if God had forgotten us. I never wanted Sophia to see me in pain as I felt she was already shouldering so much.
Sophia worked as hard as she could at school and tolerated physical, speech and occupational therapy sessions, which did not always go smoothly. There were certainly a lot of crying and those tears didn't always come from her eyes alone. It's heartbreaking and unnatural to watch your only child struggle through skills that most toddlers adopt and attain so easily. I always felt the guilt of having to put her through so much and wondered if she questioned why any of this was necessary.

After having exhausted every possible test imaginable, including repeated metabolic panel testing as well as Whole Exome Sequencing (WES) in 2012, we had just about given up hope that we would ever learn what was robbing our Sophia of basic life skills and speech.

In 2014, I resigned my position at work to dedicate myself to Sophia's care and rigorous therapy schedule. After having taken a break from testing and having recovered from the disappointment of an inconclusive WES test, I decided to, “jump back on the horse” and resume my search to discover what was afflicting our Sophia. Our diagnostic odyssey was about reach a destination with answers for the first time. I started over completely having carefully selected an entire new medical team who was as invested in finding a diagnosis as I was. It was now January 2017 and having repeated the WES testing it was revealed that Sophia had an ultra-rare neurodegenerative disease called, NBIA BPAN5. I recall asking about treatment options for this disease and feeling the blow when the response was that unfortunately, “no cure or treatment options are available at this time other than continuing with our multi-discipline therapy efforts”.

Unsatisfied with this answer, we were soon on our way to learn more about this disease at the NBIA Family Conference in Chicago, where we met other families for the first time who were living in our shoes. We made so many wonderful and profound connections that it felt more like a family reunion than a conference. I saw other little girls who displayed similar movement patterns, and behavior. Like Sophia, so many had such happy and joyful demeanors and were extremely social.

We finally had the opportunity to consult with a BPAN expert and while in the middle of our interview Sophia started having seizure activity. Dr. Susan Hayflick stated right then and there that this was a type of seizure and that we should schedule an appointment with an epilepsy specialist as soon as we get back home. We had always suspected this, but since none of our EEGs ever showed seizure activity, it was difficult to diagnose. When we returned to Houston, we immediately scheduled an appointment and started medication. It’s been almost three years and Sophia has since then gone from reduced seizure activity to almost non-existent seizure activity, which makes her more available for learning, playing and just being herself.

Sophia is a beautiful, sweet and happy girl with an infectious smile and laughter that is soothing to the soul. She is very social and loves to give hugs and kisses to her favorite people. She reserves, “high-fives” for new friends. She has enjoyed therapeutic horseback riding since the age of 6. She loves to ride her adaptive trike and go kayaking out on the lake with mom and dad. She loves music, dancing and story time. Two years ago, we decided to join Girl Scouts even though I was terrified that we would not be able to do most of the activities and maybe not fit in. I am now glad that we did not allow my fear to get in the way of adventure. Despite this merciless diagnosis, Sophia is living life to her fullest and we have received the warm embrace and support of our NBIA community. We are treasuring each special moment and celebrating all of her accomplishments (even if they seem insignificant to most). Sophia has taught us what matters most in life, a lesson we may have missed if circumstances were not so. True Love! Love requires so much from us… patience, persistence, compassion, acceptance, resilience, long suffering and fight! Love never fails. Sophia, we love you so much and are so blessed and proud to be your parents."


MadisonMadison

"Our daughter, Madison Ruby Greene was diagnosed with BPAN (Beta-propeller Protein-Associated Neurodegeneration, an NBIA Disorder (Neurodegeneration with Brain Iron Accumulation), on September 16, 2015 at the age of 3 years old. She is 7 1/2 years old now.

Madison was born on July 30, 2012 to Jennifer & Brian Greene, big brother Gavin & now her little brother, Mason. She was beautiful and seemed perfectly healthy. Within a few months we noticed she was not meeting her milestones (grabbing objects, smiling, giggling, rolling over, sitting up) and at 6 months old she was rushed to the hospital in an ambulance in the middle of the night after having her first seizure at home as she had RSV (respiratory virus) and a fever. She was hospitalized for 10 days. This was the worst experience of our lives and we didn’t understand what was happening. We were thrilled when she recovered from that ordeal, but the fight was far from over. It was discovered in the hospital through MRI that Madison had delayed myelination in the brain, which could in part explain the developmental delays. We were given the vague diagnosis of Global Developmental Delay when we left the hospital. It felt like a ton of bricks hit us. We were worried. What did this mean for Maddie? Will she every catch up? How long would it take? l has BPAN, a subtype of NBIA disorder. BPAN is a neurological degenerative genetic mutation disorder with no cure or medication. This mutation was only discovered 7 years ago in 2012, the year Maddie was born. This was a spontaneous mutation in the WDR45 gene on the X chromosome. It is not hereditary from Brian or me. This mutation happened during conception.

We were in complete shock learning about what our precious baby was born with. We just could not believe it. We searched online for answers but there was so little information available at that time. What we did learn was that BPAN is a horrific disorder. There was only 50 known people diagnosed with BPAN in 2013.

BPAN is an ultra-rare disease and there is said to be 500 diagnosed now throughout the world. The number of people diagnosed have increased by the week as the Whole Exome Sequence blood test is bro g prescribed to patients to get answers. Whole exome sequencing is a robust and one of the most comprehensive genetic tests to identify the disease-causing changes in a large variety of genetic disorders.

Unfortunately, the prognosis of this disorder is not good. It does terrible things to the body. BPAN is extremely debilitating limiting Madison’s ability to communicate, move, learn and live an independent life. BPAN is progressive! Children with this devastating disorder get worse in their teens and early adult years with complications such as dystonia, dementia and Parkinsonism. They will be wheelchair bound, G-tube fed as they have a hard time swallowing & moving their tongue to eat. They can lose their vision as well. Madison will lose the developmental skills she has worked so hard to gain. It gets worse over time, resulting in a painful premature death! BPAN is terminal! This is the worst thing our family has faced, and we never imagined ever having a special needs child, let alone a horrific, debilitating and degenerative disease! No parent can ever imagine this, but we are determined to fight to spread awareness, and to raise money to find a cure!

Madison has made very slow advancement in development over the last 7 years. She suffers from intellectual disability and seizures, so she takes medication twice a day to control them. She is 100% non-verbal. It is very difficult for her to communicate her needs. It is heartbreaking not to be able to hear her talk or express herself. She does babble and makes sounds, but they are not coherent words. She bites the back of her hand out of frustration and puts her finger in her mouth.

Maddie finally started taking independent steps at 4 years old although we can never leave her side as she has no protective reflexes. If she falls, she will fall hard on the ground & severely injure herself. She’s not consistent with walking as often times she doesn’t have a sense of balance. We hold her hand most of to get her to walk. Maddie cannot get up from the floor by herself or sit down by herself. We need to stand her on her two feet and walk with her from room to room. She has gait freezing & spasticity (muscle stiffness). She can’t climb so we need to lift her to get her in & out of chairs, bed, the bath & the car. She is 57 lbs. right now which is really difficult for anyone to lift & move her. She’s just getting bigger & heavier. I’m really scared when the time comes when I won’t be able to move her. Maddie is in diapers and we’re currently trying to potty train her but due to her lack of communication & poor motor planning we’re not sure if she will be successful.

Maddie just learned to crawl at 7 years old! We were so shocked to finally see this! She doesn’t crawl long distances, but she can crawl across her bedroom. She likes to look at herself in the mirror so that was motivation for her. She learned to feed herself using a fork at 6 years old although she still needs assistance especially with liquids. She’s a messy eater but we’re glad she has some independence with eating.

Maddie is currently in 2nd grade at a special needs public school. She has a 1:1 aide with her at school to keep her safe. We have to fight every year with the school district to keep her aide. She receives speech, PT, OT and Adaptive PT at school on a weekly basis. She recently got a tablet from her school so she can start communicating with us and make choices using a program called Go Talk Now. She takes it to school, and it comes home with her so we can use it with her as well. She has not yet mastered it but we’re working on it with her.

Her schedule is so busy with all of her therapy every week. She receives outside PT twice a week and ABA therapy 5 days a week after school. She also goes to Therapeutic Riding on a horse, a movement class through her ABA company and a special needs dance class which Maddie loves!! She should be running outside, playing with friends and playing sports. She is such a fighter and at the end of the day she is DONE!

Maddie is a beautiful, happy, silly and loving little girl with big beautiful eyes. Her signature look are her pigtails, glasses and big bows to match her outfits. She has the best belly laugh and makes great eye contact when you talk to her. She loves music, pressing buttons on toys and flips through books. She loves her brothers and they love her. All they want is for her not to suffer. That’s all we could ever ask for. We cannot imagine life without our precious daughter! We cannot watch this terrible disease destroy her and take her away from us! She is a bright light in the room who brings us joy and sorrow.

We need your help to find a cure for Madison & all of the other beautiful children all over the world who are suffering from BPAN. WE MUST SAVE HER LIFE! Private drug companies are not investing in research for a treatment or cure. We have to rely on private funding from parents, family, friends, businesses and organizations like NBIA Disorders and BPAN Warriors to raise money for research.

Please bring awareness to BPAN and give to fund life-saving research. We will accomplish Madison’s Mission when enough people like you give contributions to the NBIA Disorders Association or BPAN Warriors for BPAN research.

We all love you endlessly, Madison, our BPAN Princess Warrior."

 

 

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