Screening Test Made All the Difference
My husband and I have a beautiful son named Marcus. He is now a smart, sassy, strong and thriving 3-year-old. Two days after we brought Marcus home after he was born, however, we received a call that he had a positive newborn screening test for LCHADD (Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency). Further DNA workup confirmed this diagnosis, which is a type of Fatty Acid Oxidation Disorder. We are so thankful! The expanded newborn screening test that was done in California saved his life!
LCHADD is diagnosed as an inborn error of metabolism; it is inherited in an autosomal recessive manner. Most literature states the incidence is unknown, other literature states it occurs in 1 in 200,000 to 1 in 300,000 people. Essentially people with LCHADD have problems breaking down fat into energy for the body. LCHADD does not have a cure and requires strict lifelong management to help prevent many short-term and long-term complications.
Diagnosed “Failure to Thrive”
Although our boy is doing quite well compared to many others with LCHADD, we have already encountered our fair share of barriers and challenges associated with having a child with a rare and scary disease. For the first year of his life, I was on the phone to the UC Davis Children’s Hospital registered dietitian Staci Collins (of the Pediatric Gastroenterology and Nutrition team) every other day. He was diagnosed with Failure to Thrive and was at 3rd percentile on the growth chart. On a very restricted diet, he had severe reflux issues and was not tolerating his medical formula well. Staci was so understanding and never made me feel like I was annoying her with my questions and worries. Marcus has been hospitalized seven times so far, six times at UC Davis Children’s Hospital.
Marcus Enjoys Time at the MIND
The metabolic clinic at the UC Davis MIND Institute has been such a blessing for us. Everyone we have encountered has been caring and knowledgeable. The team listens to our concerns, follows up in a timely fashion, advocates for our son, and has been a great source of support for us all. Marcus visits the clinic about every 6 months and loves the kids play area they have set up. We continue to manage his condition by monitoring lab work, ensuring he takes his medical formula and supplements, trying our best to prevent illnesses, and keeping him on a very low fat diet.
–story submitted by Marcus’s mom and dad–Laura and Jesse Rocha