Genomic Answers for Kids is finding answers for families, like Kaden and Ty’s
Kaden and Ty have been facing liver disease, a disproportionate overgrowth of fat in the upper part of their bodies despite proper diet and exercise, and more for several years with no clear diagnosis.
Clinical genetic testing came back normal. But, Genomic Answers for Kids found an answer: MFN2 lipomatosis.
“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