Genetic Tests Leaves More Questions Than Answers For One Family
March 10, 2016
by Jessica Murphy
Jaymeson was born in May of 2008. By the second day of his life I knew there was something wrong with my baby. I couldn’t even pinpoint it I just knew something wasn’t quite right. I tried to tell anyone who would listen including multiple nurses and two lactation consultants. But everyone just kept telling me his vitals were fine he was fine.
We went home on a Wednesday. Thursday I got the phone call telling me that his newborn screening showed abnormalities. Thus begun our journey with Very long-chain acyl-CoA dehydrogenase (VLCAD).
Like all rare diseases, each individual affected by VCLAD presents slightly differently. Jaymeson writes his own story. With VCLAD you have to have two gene mutations to be affected. One mutation indicates a carrier. Carriers are not symptomatic.
Gentetic testing only showed one mutation for VCLAD in Jaymeson. But he had already had symptoms-including low carnitine levels and high liver function levels. So it was assumed he just had an unknown mutation. When he was six months old they did a skin biopsy to figure it out completely. Only that actually brought more questions than answers. Jaymesons skin biopsy was in the low normal range. So they are not sure if he is a symptomatic carrier or just has a mild form and how that will affect him as he gets older. Right now were just thankful for a thriving 7-year-old who is energetic and has taught us so much about life
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