Julianna’s mother is a neurologist. She knew early on that something was wrong: Julianna was missing motor milestones as an infant, but cognitively, she was sailing along. After 18 months of turning over every rock, testing, and consulting with multiple medical professionals and specialists, Michelle decided to do some testing of her own on her husband’s reflexes. Arm: check! Knee: check! Ankle……Nonexistent. After running a few more nerve conduction tests on her husband, she thought, “Steve has CMT. Julianna must have it too.” Immediately, they ordered genetic tests which returned inconclusive results, because genetic tests only covered the most common types of CMT. Then Julianna saw Dr. Michael Shy, a CMT expert who searches for new and rare cases; he confirmed that Julianna had a rare, aggressive and severe type of Charcot-Marie-Tooth.
This was the beginning of the end.
CMT weakened Julianna’s respiratory muscles, amongst many other things, causing her to have to use a BiPAP machine by age 2, to push air into her lungs so she could breathe. By age 4, Julianna was dependent upon the BiPAP and relied on a wheelchair for mobility. June 14th, 2016 – just 10 weeks shy of her 6th birthday – Julianna Yuri passed away.
“June 14th is a day of personal infamy. How else to describe the day your child dies?”
“We had been in hospice for 18 months and were as well prepared as possible. It stunned, though, with overwhelming and vicious finality, like an almost-lethal blow to the solar plexus of my soul. It can’t be ignored or wished away: it requires reckoning.”
This is Charcot-Marie-Tooth. This is what it can do, and yet there are no treatments. Multiple Sclerosis (MS) affects about the same number of people as CMT globally: There are seventeen medications for MS. There are zero for CMT.
Michelle joined the CMT Research Foundation’s Board of Directors to change that. She wants to end the suffering of children with CMT and end their parents’ misery. In this era of genomic medicine, there has never been a more promising time for developing therapies for CMT, but we need the research and we need the studies, all fueled by resources directly appropriately.
The CMT Research Foundation opened its doors with one mission: to find imperative research that accelerates the delivery of treatments and cures for Charcot-Marie-Tooth. Together, we can be the catalyst for the cure for CMT – now is the time.