“Our journey to a diagnosis was very frustrating. He kept getting worse and we didn’t know if we’d ever find out why. Receiving a diagnosis through Genomic Answers for Kids was a huge relief.
Now that we have a diagnosis, we’re hoping the new drug therapy will lower triglycerides, not damage his liver anymore and help with overall health. And now that we know what’s wrong, the boys met with a plastic surgeon and are getting liposuction on their face, which will help with breathing and self-esteem. We couldn’t have done that without a diagnosis.
The doctor in Michigan who’s researching this rare disease is super impressed with the Children’s Mercy genetic department and that we caught this. She told us that 99% of doctors and hospitals wouldn’t catch it.” – Casie, Kaden and Ty’s mom