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 a 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 the 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!

Braylee

Long-Chain Fatty Acid Oxidation Disorder (FAOD)

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

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 use fat for energy. This can lead to potentially severe complications such as breakdown of muscle fibers into the blood, low blood sugar, muscle weakness, decreased muscle tone and heart-muscle weakness.

There are currently no approved drugs or treatments specifically for LC-FAOD, and treatment options for FAODs in general are limited. Some people are able to manage their health by avoiding fasting; following a low fat diet; using a partially man-made triglyceride (fat) oil called medium-length, even-chain triglyceride (MCT) oil; and/or taking prescribed carnitine to help their body make energy.

Ultragenyx is studying investigational UX007 (triheptanoin), a purified form of a specially designed synthetic triglyceride compound, for the treatment of LC-FAOD.

Several thousand people in the U.S have FAODs. Early diagnosis is possible, as newborns are now screened for FAOD in the U.S.

Common types of LC-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

*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.