Not Letting His Disease Define Him

My son, John, is a remarkable young man. He gets straight A’s in school. He’s a National Merit Scholarship finalist and has elite college aspirations.

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.

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

“Today, John is focused on the present and determined not to let FAOD get in the way of life.”

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. I worked with the school to implement a plan that educates the staff on 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

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!

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.

LC-FAOD Support

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 Disorders (LC-FAOD)

What is it?

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare conditions that impair the body’s metabolism from breaking down certain fats from food into energy.

What causes it?

The body typically uses glucose (sugar) for energy, but also gets energy from fat when it uses up available glucose. People with fatty acid oxidation disorders (FAOD) cannot efficiently use fat for energy.

What are some of the common symptoms?

  • Muscle cell rupture
  • Low blood sugar
  • Muscle weakness
  • Decreased muscle tone
  • Disease of the heart muscle

How many people have it?

It is estimated that 2,000 to 3,500 people are living with LC-FAOD in the U.S.1

Most common types of long-chain FAOD

  • Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency
  • Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
  • Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency
  • Trifunctional Protein (TFP) Deficiency

Learn how Ultragenyx is moving LC-FAOD research forward with patients and families

Ultragenyx Opportunities to Participate

Research plays a critical part in advancing science and treatments. Volunteers who participate in this research are essential. Future therapies would not be possible without them. Participating in clinical trials, interviews, observational studies, and disease monitoring programs help to drive research, treatment development, and disease education. It is also a way to advocate for yourself and your community. To learn more about Ultragenyx research, email [email protected].

1Ultragenyx Pharmaceutical Inc. Data on file. 2019.

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact [email protected].