Jonah was diagnosed with GSDIa shortly after he was born. Throughout his life, his parents diligently cared for him and learned what worked best along the journey. Jonah learned with them and is now a college student who can manage his GSDIa of himself. Check out this video to hear more of Jonah’s story!
United States
Eileen and John
Not Letting His Disease Define Him
“What few people appreciate, other than his closest friends, are the challenges he has overcome. He endured multiple hospitalizations for extreme and unexplained bouts of sickness, all while struggling to keep up with his friends.”
My son, John, is a remarkable young man. He gets straight As in school. He’s a National Merit Scholarship finalist and has elite college aspirations.
He’s quick to brush aside the fact that he has a fatty acid oxidation disorder. He doesn’t want special care or attention. John’s outlook has empowered me to enjoy him as my son, not a patient.
Many Steps Back
John was a healthy baby until a spell of what we thought was the flu before his third birthday. When he didn’t get better, doctors suspected rotavirus. Things quickly got worse, and we spent two days in the critical care unit at the hospital. I still cry when I recall helplessly watching him hooked up to wires on the hospital bed. Eventually, John did recover, but he was never the same after that.
Once back home, he was constantly tired and sleeping. When my 3-year-old son told me his leg felt “paralyzed,” I rushed him back to the hospital, where he was diagnosed with Guillain-Barre syndrome after an electromyography (EMG). He was sent back home with a walker and had to be potty trained all over again.
For the next few years, it felt like our lives were on play and repeat. John would fall sick with the same symptoms, recover, only to fall sick again. He often dragged one foot, walked on his toes and was hospitalized many times. Visits to the pediatrician, neurologist and podiatrist resulted in diagnoses of limb-girdle muscular dystrophy and once again, Guillain-Barre.
Many Steps Forward
During his teenage years, I watched as John had trouble maintaining his energy levels while riding bikes or playing soccer with his friends, but it wasn’t until a trip to Washington D.C. in the eighth grade that I realized something was off with his initial diagnoses. I got a call that he was very ill. After driving through the night from our home in Toledo, Ohio, I found him curled up in a fetal position, throwing up, extremely dehydrated and his urine the color of rust. I was terrified. We hydrated him as best we could, and I brought him home.
On the doctor’s recommendation, I took him to the University of Michigan, where the medical team wanted to do a muscle biopsy. An online search led me to a paper that described John’s symptoms precisely and noted that a muscle biopsy would not be an effective diagnostic tool. I contacted the author, a doctor in Cleveland. He recommended a genetic test, after which John was finally diagnosed with long-chain fatty acid oxidation disorder (LC-FAOD).
Bringing Others on the Journey
“There still are challenges. Following the trip to Washington D.C., a teacher told John that he couldn’t lead a class project because he ‘couldn’t even take care of himself.’ I never want him to hear that again.”
Today, John is focused on the present and determined not to let LC-FAOD get in the way of life.
I worked with the school to implement a plan that educates the staff on LC-FAOD, how it can affect John, and the importance of keeping him hydrated and fed; the nurse’s office keeps Gatorade, applesauce, and pudding available for him at all times.
Forging His Own Future
“My advice to other families impacted by rare disease is this: don’t panic and educate yourself so you can advocate for your family. Our path to diagnosis was hard, but we got there by asking questions and looking for information.”
When John was younger, my main concern was making sure he was well. I cleaned and sanitized constantly to keep him from falling sick. I quit my job to take care of him. I feel fortunate that we got a diagnosis, and we now know how to manage his condition. Today, my biggest challenge is slowly, but surely, letting my teenager take over his own care. I don’t know what the future will bring, but it is my duty to help him be independent.
I hope that John gets accepted to a competitive college of his choice, that he has a family, that he fulfills his dreams of traveling, but not venture too far!
Written and submitted by Eileen, John’s mom
David
Facing My Condition
I am short and bow legged—two common symptoms of a disease I did not learn about until I was 33 years old. In fact, I first heard of X-linked hypophosphatemia (XLH) when my 16-month-old daughter was still not walking and was falling repeatedly. Fortunately, her pediatrician had read about a rare genetic disorder called Vitamin D Resistant Rickets, another name for XLH. He referred us to Virginia Commonwealth University Medical Center, where we were both diagnosed with XLH and enrolled in clinical studies.
When I spoke with physicians about XLH, the symptoms I had experienced since childhood suddenly made sense. Without proven treatments for the disease, I did not know what the future would hold for me. However, I knew that my condition did not limit me prior to the diagnosis, and I was determined that it would never hold me back.
Living with the Unknown
“I learned to live with my physical limitations and continued to do whatever I wanted. I served in the U.S. Navy for two years during my late teenage years as a storekeeper and later attended college.”
I was raised in a poor family as the oldest of seven children. Despite my bowed legs, short stature, and barrel chest, I was best known for climbing trees and riding my bicycle everywhere. However, I was lousy at sports as I could not run very fast. My schoolmates sometimes made fun of my legs, calling me mean-spirited names. Pediatricians told my mother I probably had rickets and needed to eat foods with more Vitamin D. There was no family history of rickets and none of my siblings had similar symptoms.
I traveled extensively during a 36-year journalism career, spending the last two decades in the Far East as a reporter for Stars and Stripes, the daily newspaper for the military community. I even parachuted out of a plane as part of a story assignment – the thrill of a lifetime. The only thing I did not do was cover wars. I told my editors that I could go but couldn’t run away if attacked.
Watching my Condition Progress
I remained fairly healthy until 1997 when, while snorkeling off the coast of Okinawa in Japan, I suddenly lost all feeling in my left leg. After months of tests, doctors found that excess bone growth in my spine was pressing down on the nerves. I had a 16-hour spinal stenosis operation, which restored feeling and my ability to walk without a cane.
Doctors at the U.S. Naval Hospital had read literature that showed there was no approved medication for adults with XLH and that I would probably need more back operations as I grew older. That has proved to be true – I have since had three more. Today, I walk with a cane and am limited to over-the-counter pain medications to manage my symptoms. My recovery from the last two operations resulted in limited mobility and chronic back and neck pain especially, after walking or standing for long periods. I am three inches shorter after my last operation.
Since diagnosis, I have had other health issues that I now realize were probably associated with XLH – though nobody made the connection at the time. In 1991, I was diagnosed with Meniere’s disease – a disorder of the inner ear – after episodes where I would feel dizzy, nauseated and fall. I subsequently had a corrective shunt implanted behind my right ear to drain excess fluid believed to cause the condition. I have had a history of dental problems, losing my front teeth at the age of 20 and wearing a number of partial plates. I now wear dentures.
I recently retired and moved to Indiana, where my daughter now lives with her two sons – ages 13 and 11. My daughter has a worse case of XLH than I do. She broke both her legs and had them reset while in her teens and has had bone grafts and pins inserted into her lower legs. Both my grandsons have XLH and have had surgeries on their legs. Despite the challenges, there is nothing more fulfilling than the time we spend together.
Looking Ahead with Hope
“I am not sure what the future holds, or how my condition will progress over time. Yet that does not stop me from living a full life.”
I still love to write. I am the editor of an online poetry arts magazine called Indiana Voice Journal and have published two books on poetry. I am working on increasing my strength by exercising at home.
I’m also lucky to have the love and support of my daughter and online XLH groups.
My advice to people with XLH is to seek support from others with the condition. Research the condition as much as you can so you know what you are up against. I hope that researchers will find a medication for adults with XLH. In the meantime, we cannot let the condition limit us.
Written and submitted by David
Tasia
Tasia lives with an LC-FAOD. As an infant, she was diagnosed with an enlarged heart and was immediately tested for multiple diseases. Shortly after, she was diagnosed with very long chain acyl-co A deficiency (VLCAD), a type of LC-FAOD. Tasia’s transitions into adolescence and adulthood were challenging because she experienced more symptoms as she got older. She admits that she was in denial at first, but she has learned to accept her condition and not let it define her. Tasia is proud to be a beacon of hope for young people living with a rare disease.
Dan
A Sudden Change
At 50 years old, I was a healthy, strong workaholic – until everything changed. The last time I’d seen a doctor was when I was in my mid-20s. When I reached 50, I began to have pain throughout my body, in my muscles, joints and bones. After a couple years it got to the point where I could not walk. I sought out a doctor and received many x-rays, nerve tests, and MRIs.
“Ten doctors later I was told that there was nothing wrong with me and that I was getting older and could not deal with the pain that typically starts when you get into your 50s.”
Not knowing much about the medical field but being a fast learner, I realized I had not seen an orthopedic doctor yet. So, I made an appointment, got x-rays, and within minutes they found out I had two fractured femurs. The fractures were straight across at the ball of the femur. I was told that I needed emergency surgery and that I would need rods placed in my femurs so they would not break any more. For the next three months, even more pain caused the doctor to recommend a hip replacement. While trying to remove the rod in the right leg, he broke my femur all the way to the knee, forcing him to stop the hip replacement – off to find another doctor.
The Progression of Pain
The next stop on my journey was to the University of Michigan. I saw the chief of orthopedic surgery and in the next few months, I had the two femur rods removed and a new hip implanted. After that, it was time for physical therapy, two hours every day. My back was hurting, and my ribs started with a lot of pain. I kept hearing the phrase, “no pain, no gain.”, but the pain would not go away. I continued to see other doctors and received CAT scans, more x-rays and more MRIs. I got 20 shots in my back over the next couple months, only to be told I needed more therapy. The doctors could not find anything and suggested an implanted spinal cord stimulator to trick my brain into thinking I wasn’t in pain. The next year of my life was the worst yet; the stimulator caused even more pain in my back and ribs.
“Throughout all of this I became depressed and was on medication for depression, which I was against, but was told I really needed it. All the pain and continued therapy made me think dying was the only way out. By this time, I was convinced that I was crazy, and I would have to live like this for the rest of my life.”
I went to see even more doctors and now they did a bone scan; I had to be put asleep while doing the scan due to too much pain. When I woke up, I told my wife I thought they dropped me because there was still more pain in my back legs and ribs. For the next few days, I was in so much pain that it was the first time I refused to do therapy. I could not move there was so much pain. I went to another hospital system and after a week in there they ran more tests, only to find out I had 10 broken ribs, fractured ribs, femur, and some breaks in my spine. From there I went back to the University of Michigan and the bone specialist started running more tests.
A Lifesaving Catch
It was seven years and 100 doctors later and there was finally proof that I had all those broken bones. At that point, the bone doctor sent me to an endocrinologist. The endocrinologist ran some blood work and found that I had a rare disease, tumor-induced osteomalacia (TIO). They found the tumor right away because it was the size of a silver dollar. It buried itself in my left scapula.
Today, I am much better; I still have some broken bones, but I go next month to see how my bones are and look forward to continued improvement. I was lucky to find a doctor that knew about TIO because I was slowly dying a painful death. This is why I am willing to talk about this disease and help raise awareness.
Written and submitted by Dan
Cheryl
At age two, Cheryl’s parents noticed that her legs were bowed. Throughout her life, she had seven surgeries in an attempt to straighten them. In the beginning, a physician told her parents that X-linked hypophosphatemia (XLH) was a childhood disease that would correct itself, but that is not accurate. This experience taught Cheryl that finding the right healthcare team is crucial. As an adult, she keeps active, and she’s found that having a positive attitude makes all the difference. Cheryl can’t control her symptoms, but she can control her attitude, and she’s not letting XLH stop her!
Matthew
My name is Helen. I am from the Empire State (New York), where I happily work and live with my husband. I have three sons, Francis, Paolo, and Matthew. My youngest son, Matthew, was diagnosed with a rare disease called Sly syndrome (MPS VII).
Matthew was born prematurely at 34 weeks with multiple health concerns that required him to have spinal cord surgery and stay in the Intensive Care Unit (ICU) for four months. After his release from the ICU, he was sent home with a pulse oximeter, a device to measure the oxygen level of the blood and some medications, but his asthma attacks required frequent trips to the emergency room and many days in the hospital. One time, we brought Matthew to the emergency room because he couldn’t move his arms and legs. Doctors examined him and did not find anything wrong with him.
“Matthew is loving and very sociable. He loves to spend time with family and friends. He has his own way of communicating with people, including his own language, which his family and very close friends have learned. Despite his current condition, he enjoys attending classes held at the hospital.”
We received Matthew’s diagnosis after a geneticist ordered genetic testing for him. He was diagnosed at 17 months with an ultra-rare disease called MPS VII, also known as Sly Syndrome. It is a genetic disorder that causes reduced function of organs such as the heart, lungs, liver, and spleen, as well as skeletal abnormalities and mental disabilities. It is considered an ultra-rare disorder because it affects fewer than 100 people in the U.S.
Since his diagnosis, Matthew has resided at St. Mary’s Hospital for Children in Queens, NY, to receive the necessary medical attention. Up until 2011, he was allowed to spend a small amount of time with family outside the hospital during the holidays. As of today, Matthew cannot leave the hospital. His health condition took a critical turn in October 2013, when he was living in the hospital and was no longer able to breathe on his own and needed the help of a respirator. As his mother, it was heartbreaking to learn that my son was no longer allowed to leave the hospital.
Matthew’s doctor advised me to take it one day at a time. And this is how I have been coping with my son’s condition. At the hospital, he has the medical care that he needs, has enjoyed taking classes, and is happy when family members and friends visit him. In 2010, at the age of nine, Matthew stopped walking. He could not walk with the support of a walker anymore, and he became a wheelchair user. Matthew currently requires the use of a ventilator 24/7. He is not able to eat orally, as it may cause aspiration, but he is being fed through a G-tube.
In October 2022, Matthew celebrated his 21st birthday. He is very social and loves to be around his family and friends, offering them his biggest smile. Matthew likes to interact with his brothers, Francis and Paolo. He is unable to verbally communicate, so he has his own way of communicating using a board with pictures. Matthew is currently taking classes at the hospital and is active and engaged in class. His quality of life right now is much better than before. He is more alert and has more energy. I’ve decided to share my son’s story to inspire others, and my hope for families living with MPS VII is to keep them hopeful and to never give up.
Written by Helen Evangelista
Braylee
Quest for Information
Braylee’s birth was the start of our family in April of 2012. Approximately eight hours before our scheduled discharge from the hospital, doctors discovered Braylee was not maintaining her blood glucose level. We were told everything was probably fine, but the doctors were going to run more tests and rush the newborn screening results. The following day while we were still in the hospital, the state laboratory called and told us to bring Braylee to the nearest emergency room immediately so she could be evaluated by a medical professional. Right then, we knew something was wrong.
We were informed that Braylee’s newborn screening results flagged for long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), a type of fatty acid oxidation disorder (FAOD). Braylee was admitted to the NICU as the doctors, nurses, and we as new parents tried to learn everything we could about her rare disorder. Since her disorder is considered relatively “new,” having only been discovered in 1980’s, there is still a lot to learn about it. There were so many unknowns, making us fear what the future could really hold.
Navigating Daily Challenges
Raising a child with a rare disease is very difficult. For instance, many social activities involve food, but Braylee was unable to eat 99% of what other children can. Simple things in life were difficult for her. She was hospitalized several times a year. Insurance companies often did not cover the medical food that is necessary to keep her as healthy as possible.
“As Braylee grew up, she learned about her ‘special body.’ As parents, our goal was to make sure she knew about her body and understood that everyone is different. She would call her food ‘Braylee-safe.’ We tried to find new recipes and food products for Braylee and experimented with many things for her to eat.”
Despite having to be hospitalized many times and having to drive several hours to doctor appointments for the specialist care she needed, Braylee remained so happy and positive. Even on her hardest days, she had the ability to make everyone around her smile, laugh, and be happy, often reminding us that “it will be okay.”
Through networking with other LCHAD families, we’ve learned that LCHAD affects every child very differently. Life would change day by day, and we sometimes had to cancel outings because her body just couldn’t handle it. Many changes were trial-and-error, and there was no magic medication or therapy that would help her. The hardest thing about raising a child with LCHAD is letting them run around and be crazy like kids do but trying to do it safely so that it wouldn’t break down her muscle.
Gaining her Wings
In November 2017 at the tender age of five, Braylee gained her wings after a courageous battle with LCHAD. She suffered complications from her disorder that sheds some light into the many unknowns of LCHAD. Now our mission is to honor Braylee in a different way by raising awareness about her disorder and rare diseases. We are so grateful for companies who support the rare disease community because, as parents, it can often feel as though you are alone. Our path through Braylee’s diagnosis, her complex journey in life, and her gaining her wings is more than we ever thought we’d have to endure, but we are hopeful for advances in research and education to assist other families in the future! Our biggest advice to families raising a child with a rare disease is to learn as much as you can about it, conduct lots of research, and advocate for your family and your child. Never feel like you’re pushing too hard. Every child and family has the right to fight for more – and you deserve it!
Written by Brittany, Braylee’s mother
Michelle and Jake
About a week after her son Jake was born, doctors told Michelle that he had long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a long-chain fatty acid oxidation disorder. The doctors explained that he would survive a few years at most, if they were lucky. Fortunately, with the help of a metabolic specialist and a dietitian, Michelle learned that through diet, frequent feeding, and a close watch, she and Jake could manage the disease together and move forward. Jake is now a teenager who loves to swim and draw. Each day, he proves that with proper care, people with LCHAD can live a full life.
Franco
Journey to Diagnosis
This is the story of our son’s diagnosis of CTD (creatine transporter deficiency). It has been a long journey to say the least and now this diagnosis has taken us on a new path.
Our son Francesco (Franco for short) was born March 14, 2008. When he was born, he was perfectly healthy and he met all the milestones for sitting up, crawling, and walking; however, this all suddenly came to a halt when he was 17 months old.
We will never forget that day. It was Sunday, August 16, 2009, and he just seemed a little under the weather from the moment he woke up. He didn’t eat breakfast and was very lethargic and even took an early nap. After he awoke from his nap, we brought him downstairs to the living room and minutes later he was having a grand mal seizure.
“My husband and I had never witnessed anything like this before and immediately called 911.”
Franco was beginning to turn blue and by the time the paramedics arrived he had come out of it. He was taken by ambulance to the children’s hospital where they ran the basic tests. The only conclusion they came to at that time was that it was febrile, even though he did not have a fever, and they ended up sending him home.
Early the next morning, when we checked on him, he was having another seizure and we rushed him back to the hospital. They admitted him this time and started performing tests. They first performed a CT scan and then an MRI and were unable to find anything wrong. Then they gave him a spinal tap and with that found he had slightly elevated white blood count (not drastically high, but high enough that he may have been fighting some sort of infection). It was then that they diagnosed him with viral encephalitis and started him on antibiotics.
It was at this point that he was at his worst. He was unable to move, speak, eat or do anything. He was lifeless and our world was shattered. He had seizure after seizure and the doctors had a hard time getting them under control. The doctors were unable to tell us if he would ever walk or talk again. But Franco surprised us and after a few days he started perking up and was feeling a little better.
“After this initial hospital stay Franco was in and out of the hospital continuing to get test after test including CT scans, MRIs, EEGs, and blood work. He met with multiple specialists including a team of neurologists, infectious disease doctors, and a genetic doctor.”
They were unable to come to any solid conclusion and still diagnosed him with viral encephalitis, which we were also told caused him to have a seizure disorder and an acquired brain injury which causes him to have speech issues, cognitive issues, and an intellectual disability.
The next seven years he still struggled with what we believed were the aftereffects of viral encephalitis including seizures, speech and cognitive issues, and an intellectual disability. He also portrayed autistic mannerisms, but he is not autistic as we were told many times by various specialists and therapists. Throughout the past seven years he was prescribed numerous seizure medications to help control his seizures. It was all trial and error.
In the beginning of 2016, the seizures increased. After visiting his neurologist, we were told we needed to increase his meds even more. It was then that we decided to get a second opinion because we could not continue to increase medication for our son because it caused him such terrible side effects. We decided to meet with a neurologist at Miami Children’s Hospital and our initial visit was in March 2016. In August of 2016 Franco was hospitalized in Miami so they could run their own tests from scratch including a week-long video EEG and CT scan. He was taken off all his seizure meds so they could start testing him and right away he started to have seizure after seizure. They were able to get enough data to end the testing early. They wanted to see if he was a candidate for surgery, but the tests were inconclusive.
The doctor was in the midst of a clinical trial and offered Franco to become a participant to see if it would benefit him. He started in August 2016. Once he started the investigational treatment, we slowly started weaning him off other medications and immediately noticed improvement. He had started to speak more, had become focused and self-aware, started looking us in the eyes, and looked all around healthier and didn’t appear to be dazed.
His neurologist then requested that we go ahead and get a genetic test in case there was something he was missing and to gather information that would be helpful to treat his seizures. My son, my husband, and I all did the bloodwork and at our visit to Miami on February 24, 2017, we were told the news that shocked us. We were told he has a genetic mutation with the SLC6A8 gene which is a creatine transporter deficiency.
We were completely overwhelmed by this news. We have never heard anything about this disorder before. We started researching right away and were surprised to see how much he portrays the symptoms of CTD. His neurologist recommended the Association for Creatine Deficiencies (ACD, creatineinfo.org) for additional information and to reach out to other parents, which was extremely helpful.
Daily Progress
“Franco is eleven years old now and continues to have speech issues, an intellectual disability, learning difficulties, autistic mannerisms, and worst of all seizures (even though the number of them has reduced). Even through Franco has all these issues, he is a typical eleven-year-old little boy. He loves to play outside and tease his sister. He loves music, bubbles, playing ball, riding his bike, cartoons, and playing on his iPad. He is full of life and loves to be silly.”
Fast forward to 2019 and our son is completely off all other seizure medications, except for the treatment he received through a clinical trial (this treatment is now FDA Approved). Our son sees a genetic doctor as well and he prescribes him with a supplement, which is used to help transport energy production within his cells.
In 2018, we attended the first ever symposium for CCDS that brought together members of the scientific, medical, and research communities along with families from all over the world who also had children with a CCDS Syndrome. The ACD has been monumental to me since I found out about Franco’s diagnosis. The ACD advocates, educates, and promotes research for patients and families coping with the effects of CCDS.
He attends a special needs (ungraded) Catholic school. He is on a modified curriculum, and they work with him up to his potential. We continue to see progress, which makes us so incredibly happy. We don’t know where this new path is going to take us, but we will be with him every step of the way. I continue to pray for a treatment because at this point, I do not know what the future holds for him and we are unsure if Franco will be able to live independently. At this point we do not see him being able to live alone so we are planning our future and his future around this. We do continue to hope and pray for the best.
Written by Lisa, Franco’s mother
Marah
Feeling Left Out
“For a long time, I was jealous and hurt by the circumstances of my sister’s disease. As a five-year-old, it was hard to understand that my sister’s “fun” trips to Connecticut to see her doctor were not actually fun at all.”
When my baby sister was two years old, she was diagnosed with a spontaneous case of X-linked hypophosphatemia (XLH). The way I usually explain it to people is that her body doesn’t absorb phosphorus and calcium correctly. This results in short stature, severe bowing of the legs, and dental abscesses. XLH has been one of the biggest parts of my family’s life for as long as I can remember, and I, as many siblings of those with rare disease can probably relate, must confess that I haven’t always been the most graceful, understanding sister in terms of my sister’s condition and everything it entails.
The trips that I thought were full of the attention of my parents, badges from pilots on airplanes, eating at restaurants, and presents from nurses, were actually full of needles, MRIs, twelve hours of straight travel, and many tears. With the help of my parents and a newfound maturity, I later began to better grasp what the trips actually were; however, the jealousy shifted rather than faded.
“I felt stuck as a young child, and sometimes even now, in a circle of guilt and jealousy.”
My sister and I are night and day. She is loud, sassy, and demanding. Even without her rare disease, she already occupied the majority of attention from my parents, relatives, and friends. In my mind, XLH was just another thing that she had going for her. I began to resent my sister for the attention she received. Everything was always about her. But I couldn’t complain because I was healthy. I was the lucky one.
Not Alone
It wasn’t until we got older that my healthy relationship with my sister’s experiences developed. I realized that I couldn’t do anything about my sister’s disease, but I could help her, my parents, and other patients. When my perspective changed, everything else followed suit. Eventually, I decided I wanted to dedicate my life to helping families like the ones that I talked to in waiting rooms and the kids my sister played with in between appointments. I plan to be a pediatric surgeon one day.
“Despite my unusual childhood, I would not be the person I am without my sister’s disease. I would not be as motivated or empathetic. My goals and aspirations would be completely different. My sister and I wouldn’t be as close, and the life I grew to love wouldn’t be the same.”
For that I am thankful. To be honest, I wish I could give more advice, but I don’t know what advice to give or how to give it. Nobody has the same story, but I hope siblings of those with rare conditions will take comfort in knowing that they are not alone. I know I would have. The only thing I can say with confidence is that it gets better with age, perspective, and maturity. Everything gets better, and I realize now that my jealous feelings when I was younger were normal, and perhaps even healthy. My sister and I both have interesting and complex journeys, and I am glad that we get to help each other along the way.
Written and submitted by Marah
Colin
Our journey to diagnosis begins much like many other stories in the Angelman community. Colin, our first born, arrived at 38 weeks after an uneventful pregnancy. He was long, lean, and had a headful of beautiful blond hair. We were discharged from the hospital and eager to settle in as a new family of 3.
Noticing the Symptoms
Once we were home, we began to notice subtle signs that something was amiss. These signs alone wouldn’t amount to much, but as the weeks went by and more symptoms came to light, it became evident that Colin’s development wasn’t on track.
He didn’t nurse well and couldn’t transition to a bottle. He had severe reflux and constipation, even as an infant. He had poor head control and a weak core – even into four, five, and six months, Colin was unable to hold his head up during tummy time or sit, even with assistance. He didn’t track objects or react to seeing us. He didn’t bring things to his mouth. He didn’t play with toys. His reflexes weren’t integrating. He didn’t coo or babble. He rarely ever slept.
Searching for an Answer
I work as a speech-language pathologist and because of my background, I knew typical development, and I knew that what we were seeing with Colin wasn’t that.
One of the most frustrating things about the journey to diagnosis is often how hard we had to fight for it.
For four months, we were dismissed, pushed aside, told we were anxious new parents, that I knew “too much” because of my profession. The first eight months of Colin’s life were spent running back and forth for doctor’s appointments and advocating to see specialists. We went from pediatrics to ophthalmology, back to pediatrics, started physical therapy and occupational therapy, visited an ENT, then off to neurology, and when Colin was six months old, we were able to slip into a last-minute appointment with genetics. Our appointment was approximately 45 minutes long and consisted of a brief history and physical of Colin and a blood draw. We were sent on our way with the promise to call us soon with results. It took two months for the results to come back, mostly due to delays from insurance denials.
We sat there, in shock, as she read an incredibly long list of things our son would never do.
He may never walk, he’ll never talk, he’ll never feed himself or dress himself. He’ll never be potty trained, play sports, drive a car. He’ll never earn a high school diploma, have a job, get married, or have children. He’ll never live independently. He will have life-threatening seizures. And worst of all, there isn’t a cure. It was gut punch after gut punch, but that last blow hurt the most.
Finding a Community
My husband, Brian, and I quickly re-evaluated our family’s needs and made new plans. We relocated to be closer to family and we leaned into life with Angelman syndrome (AS). Colin began therapies five days a week and we began to get involved in the Angelman syndrome community. We found the Foundation for Angelman Syndrome Therapeutics (FAST) through our online Angelman community. We took the leap and flew from Orlando to Chicago to attend the annual FAST Summit and Gala in 2016.
We had found a community. We had found hope. In the Angelman world, good news is not something that is often delivered.
To say the event was transformative for us would be an understatement. We were welcomed into the community with open arms. We sat, front and center, as we listened to researchers explain what they were working on and how that might one day help our child.
This Summit and Gala weekend poured so much good news into our souls. We soaked up every single sight, sound, and feeling of that weekend.
Although we’ve seen incredibly difficult times and life with Angelman syndrome is tough for Colin, we’ve grown as a family and we’re watching him thrive. Colin took his first steps just before his fourth birthday. He’s potty training and learning how to use a communication device. We continue to push him to be the best he can be.
Each year, we return to the FAST Summit and Gala to hear the latest updates in the Angelman research space and spend time with our friends turned family. We became more involved with the community – I now serve as the vice-chairperson on the FAST Board of Directors and help newly diagnosed families find their footing in the community, both online and through local connections.
While Colin continues to put in the work to be the best he can be, our community continues to fundraise and push research in a forward direction. While we don’t know what his future holds exactly, we are hopeful for better communication, fewer seizures, and increased independence in his daily life. We continue to keep our eye on the prize – a better quality of life for Colin and all individuals with Angelman syndrome.
Written by Kelly, Colin’s mother
