When Eileen Sullivan Baker’s son, John, was born 24 years ago, few doctors had ever heard of long chain fatty acid oxidation disorder (LCFAOD). At one point in his diagnostic odyssey—which involved multiple hospitalizations and years of visits to specialists—physicians even suspected the boy had some form of muscular dystrophy.
It wasn’t until John was 14 that a medical crisis led Eileen to take him to a pediatric neurologist in Cleveland, Ohio, who specialized in metabolic disorders. That expert did a battery of genetic tests as well as a skin biopsy, and within a few weeks determined that John had LCFOAD.
That’s when Eileen, a trust and estate lawyer in suburban Toledo, Ohio, became a patient advocate for a disease that’s believed to affect no more than 3000 people in the United States.
As she puts it, “managing LCFAOD requires constant vigilance and detailed planning to minimize potentially life-threatening metabolic decompensations.”
The problem, she said, is that “the burden of navigating the healthcare system that is imposed on people living with LCFAOD, their caregivers and healthcare professionals is often overlooked.”
LCFAOD has several subtypes; the specific form John has—trifunctional protein (TFP) deficiency—stems from mutations in both the HADHA and HADHB genes.
“When we first discovered that this was a life‑threatening illness, it was after an episode of a normal flu virus that John contracted at age 2 and a half,” she told Rare Disease Advisor. “We brought him to the hospital. He was in significant rhabdomyolysis, which is a rapid muscle breakdown. He was acutely paralyzed and could not move his legs or arms. They put him in ICU and believed initially that he had something called Guillain‑Barré syndrome. At that time, we had no diagnosis, [only] symptoms.”
The toddler regained his ability to walk after 6 months of intense physical therapy. Yet the same thing happened after his fourth birthday, when he caught another virus after a growth spurt and ended up back in the hospital.
Exhausting DC School Trip Led to Diagnosis
Also at that time, there was no newborn screening available for LCFAOD.
“There was no suspicion that he had a fatty acid oxidation disorder. They had no idea what was happening,” Eileen said. “Whenever he would have a growth spurt, we’d notice that he had some weakness. One characteristic he lives with today is that he does not have reflexes in his knees or his ankles, which is a telltale sign of someone with this rare disease.”
In the end, it was John’s 2012 school trip to Washington, DC, that led to a definite diagnosis.
“He had done quite a bit of walking and not had a lot to eat or drink, both conditions that now are known to support metabolic disorders. You need to make sure you have proper nutrition and hydration. He ended up having a metabolic crisis,” she said.
Read more about LCFAOD symptoms
After being seen by a pediatrician, a neurologist, an immunologist, and a pulmonologist, John was finally referred to a renal specialist, who discovered that the teen had kidney problems. That led to his ultimate diagnosis of LCFAOD as the source of his medical issues.
“Early on, we weren’t able to identify the genes that may have made up these rare diseases,” Eileen said. “There was a grief support group, but there were children who passed away as a result of not being able to get the care because it wasn’t known in science.”
Eileen said it was relatively easy for her to manage her son’s diet up until about fifth grade.
“But the constant reminder of ‘Do you have your Gatorade? Do you have your water? Do you have your snacks?’ can play negatively in the relationship of a mother and a child, or a father and a child,” she said.
As an adult, however, she said her son knows when and what he can eat, based on how he feels.
“If we all want to go, for instance, to a restaurant that has more American cuisine and not a lot of vegetables, he has to moderate and look at what he’s eaten over the last 5 or 6 days to be able to say, ‘Yes, I can enjoy these french fries or this piece of pizza.’”
Speaking Out on Behalf of Those With LCFAOD
In 2019, Eileen led a group of patients with LCFAOD and their caregivers in a presentation before the US Food and Drug Administration (FDA), urging the FDA to issue its first-ever approval for a medication to treat this disease. Triheptanoin oral liquid (Dojolvi®), developed by Ultragenyx, eliminates the need for those with LCFAOD to eat every 3 hours to prevent their blood sugar from dropping to dangerously low levels.
Eileen is also involved with the University of Pittsburgh’s International Network for Fatty Acid Oxidation Research and Management (INFORM) and has just begun a 2-year appointment to the Rare Disease Advisory Council of Ohio.
Jerry Vockley, MD, PhD, chief of medical genetics at Pennsylvania’s UPMC Children’s Hospital of Pittsburgh, praised Eileen’s perseverance in speaking out on behalf of patients with LCFAOD—especially in the absence of any organized nonprofit group for those with the disease.
“Eileen’s been involved with INFORM since we started,” Dr. Vockley said. “She has thrown herself full force into advocacy work in the field of rare diseases and fatty acid oxidation disorder in particular. Along with John, she’s participated in many clinical trials and has lots of interesting insights about the family journey with FAOD.”
More recently, Eileen has been working closely with MitoAction, a patient advocacy group based in Novi, Michigan, that serves patients with mitochondrial disorders.
“We participate in studies whenever we can,” she said. “I’ve been getting John involved since he was a minor, and now as an adult. If there’s a study out there, he will sign up for it.”