Harper's Story: Living With a 1 in a Million Diagnosis
Child born with rare genetic disorder called familial chylomicronemia syndrome (FCS)
Similar to most parents, Chris and Kendra Braughton waited anxiously for nine months to meet their first child. Harper brought more joy than they had imagined to their lives, and also a one in a million diagnosis.
Harper was born with a rare genetic disorder called familial chylomicronemia syndrome (FCS) that causes a build-up of dietary fats, often resulting in pancreatitis, acute inflammation of the pancreas and severe abdominal pain. FCS is so rare estimates vary; but experts believe about one to two per million are likely to have the syndrome.
"It was really crazy at first because I went from breastfeeding to having to get formula, and it wasn't your everyday formula," Harper's mother Kendra Braughton said. "This was our first baby, too, so we didn't even really know what to expect."
Many people who have FCS live with severe pain for years as they receive misdiagnosis after misdiagnosis. Although Harper's condition was diagnosed at nine months, she still encountered a fair share of medical missteps.
"When we first took her to a specialist in Dallas, we actually took her to a cardiologist on the recommendation of our pediatrician," Harper's father Chris Braughton said. "After she put her on flaxseed oil, Harper ended up getting hospitalized with pancreatitis . Unbeknownst to us, it was because her body can't tolerate fat."
It wasn't until her hospitalization that Harper's family knew they had to dig deeper to find an answer that would give them an unfamiliar diagnosis, and would lead them to the Cook Children's Endocrinology Program.
Kendra's mother works for a Dr. Dennis Canon in Canyon, Texas. She spoke to the physician about Harper's condition. He did some research and found information he thought matched Harper's symptoms. Dr. Canon emailed Don P. Wilson, M.D., a Cook Children's endocrinologist, to ask for help.
Despite the rarity of the syndrome, Dr. Wilson is nationally known for treating patients with FCS. Dr. Wilson and his team currently care for 12 patients from around the nation, including six from Texas.
"Receiving such a rare diagnosis was shocking at first, but once Dr. Wilson explained what it was and how to manage it, and that it was really going to change us more than her, we realized we could do this," Chris said.
Normal triglyceride levels in a healthy person are typically less than 150 mg, however patients with FCS can reach levels of 10 times that amount. With a correct diagnosis, Harper could now be treated for her condition.
Dr. Wilson orders a lipid profile and Harper's triglyceride levels are closely monitored every six months to ensure she doesn't fall into another case of pancreatitis. Her triglyceride levels have remained around 700, which may seem high but is within a healthy range for a FCS patient.
"High triglycerides can destroy the pancreas, which would lead to problems absorbing nutrients and could cause her to have diabetes. Particularly in her [Harper] case dietary restrictions are necessary to avoid pancreatitis," Dr. Wilson said.
Patients with FCS are usually diagnosed due to debilitating symptoms such as severe abdominal pain, numbness or tingling, impaired cognition or blood with the consistency of milk, but at nine months old Harper was diagnosed due to her pink blood.
"Harper had high triglycerides and had little fat bubbles under her skin that looked like little pimples almost," Chris said. "One time we took her to get blood tests and her blood came out pink because it was so full of fat. The lab technicians actually thought they had messed up the test so they took her in for a second one and she broke the test again [due to inconclusive results]."
While there is no cure for FCS, patients are encouraged to meet with a dietician to maintain a lifestyle with extremely low levels of fat and the importance of avoiding excess carbohydrates.
"The only thing we have to watch is her fat intake," Chris said. "She eats a very low fat diet, we typically try to keep it between 7 or 8 grams per day. She eats very healthy, but otherwise we don't limit her. We try to keep her day as normal as her friends' would be."
While most 5 year olds are concerned with getting a piece of cake with the most icing, Harper is thankful on her "cheat days" and understands her daily restrictions.
"FCS requires a strict and rigid diet, and that's the problem especially with young children," Dr. Wilson said. "Everyone will grow up and be tempted to eat things that we shouldn't be eating, but when a child cannot always participate in birthday parties and other treats it can ostracize them."
Despite her dietary limitations, Harper has now lived five years with FCS and her healthy lifestyle is her definition of normal.
"Harper doesn't know anything else besides this type of lifestyle," Kendra said. "It seems like her body can tell when she does eat too much fat because she doesn't feel well and needs to eat something different."
Harper's parents quickly realized if she was aware of her diagnosis their daily lives would be easier to manage.
"We're very open with her about limiting her and why we're limiting her," Chris said. "She's very conscious of it. I think that's really the key for parents with kids who have dietary restrictions. That's your kid, and you have to let them have their cheat days and fun with their friends, but you also have to explain why you can only do that every so often. It really does help."
What is Familial Chylomicronemia Syndrome
Familial chylomicronemia syndrome is a rare genetic disease that is caused by the buildup of carbohydrates and is known to cause pancreatitis, severe abdominal pain and diabetes if left untreated. FCS can mutate and cause different strands with various degrees of rarity, with the most "common" being a one in one million diagnosis. Parents can pass down the FCS trait to their children, which is caused by a recessive autosomal genetic defect. There is no cure, but it can be controlled with a strict diet with low fat food. Harper's FCS mutation has been genetically confirmed by Cook Children's Endocrinology as a mutation in the glycosylphosphatidlinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1).