When you live with a rare disorder like an LC-FAOD, it can feel lonely. Check out this video from LC-FAOD community members around the world to hear their experiences and how they manage the condition day to day.
Long-chain Fatty Acid Oxidation Disorder (LC-FAOD)
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
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.
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.
Myriam and Victoria
My life changed completely since my daughter Victoria was diagnosed with very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD), a type of long chain fatty acid oxidation disorder (LC-FAOD). We learn day by day through caring for and about it. We live in Argentina, and so far, Victoria is the only one in our province with VLCAD. In Argentina, there are only a handful of us who are diagnosed with forms of LC-FAOD.
Victoria’s disease appeared at three years old and it took about a month for us to get a diagnosis. We had two consecutive hospitalizations. Her first crisis was after her birthday and we thought it was due to excitement because she saw people she had not seen in a long time. That’s when it started. The second time her creatine phosphokinase (CPK) level was so high that her pain was severe.
One of the most challenging things was accepting the diagnosis and that we were the only ones we knew of in our province. There wasn’t much information about VLCAD.
We gradually learned about it with help from her doctors. Even now it is hard for me because they are still not trained about her dietary needs. I have to tell each doctor she sees when she’s hospitalized about her illness. Honestly, I get very stressed during each hospitalization. I just want them to place her on IV therapy so she can recover and go back home as quickly as possible.
Managing VLCAD
Victoria’s prominent symptoms are muscle aches and diarrhea, which weaken her and affect her metabolism. Everything is difficult at home, especially food. She can be defiant with food. She doesn’t eat anything with fat, but when her disease appeared late at three years old, she already knew how everything tasted, so she wants it. Luckily, I like to cook a lot and I always get her to try new things. I cook with canola oil for her and with sunflower oil for my other daughters. Her biggest temptation is things with chocolate, but I learned to make special cakes and desserts, and I even invented Easter eggs for her so she would feel good! Every day we learn something new about living with this disease.
Every six months we meet with other families. Doctors host special cooking workshops for us, and we don’t feel so alone. I see my daughter’s little face when she plays with them and their nutritionists teach them. She is amazed when she sees other children eating and doing the same things as her. Since there are only a few of us, it is very difficult. That is why I loved the idea of listening to others with VLCAD, not feeling strange, and knowing that we’re not alone.
Hope for the Future
The fears are always there because she depends on my husband and me. I fear that she will always depend on me, but the truth is she won’t. I know it’s all in due time, but as a mother, I want to know what will happen.
My husband and I established a foundation for congenital diseases to advocate for families like ours because people like us go to hospitals and the doctors don’t know what these diseases are. Because of this, it’s difficult to get everything: her medication, her tests. The foundation is named after her: VICTORIA. We are parents, not doctors, but we fight for our children so doctors will listen to us.
I think that this has brought us purpose in this life, to help other people. I won’t lie, oftentimes every prick of the needle hurts us as much as it hurts them. We suffer at their side but what’s special about our community is that we experience and feel the same things: diets, fears, dreams, and love.
Written by Myriam, Victoria’s mother
Note: Content was originally provided in Spanish and translated to English
