Where to begin. Jake was born 2/2019 and what we heard was: hypotonia, micrognathia, respiratory distress, joint contractures, etc. Jakes provider in the NICU ordered genetic testing right away and by around 4-6 months old, Jake was diagnosed with Bethlem Myopathy, a progressive form of muscular dystrophy. Fast forward a few months, his Drs became concerned that something else was going on. Jakes 1st few years of life were filled with failure to thrive, frequent hospitalizations requiring intubation due to respiratory crisis. Jakes provider sent him to the Undiagnosed Disease Network at Stanford who gave Jake an official diagnosis 10/2023 of Congenital Myasthenic Syndrome, an extremely rare disease and another form of muscular dystrophy. It has been such a long road for Jake, so many struggles and he has been so brave and resilient. He has been referred to UC Davis from Stanford to see a specialist due to his rare disease but our insurance has denied the referral. I, Jakes mother, have made multiple complaints, filed many grievances, grievances with our state managed care as well, all to be denied. I had no idea how alone, isolated parents are when your child is born with a rare disease, and sadly there is no cure. This funding will help all medical treatments, travel, etc. I did start a Gofundme but then I came cross this website and felt it would benefit others more.
Some recent updates: Jake was diagnosed with cardiomegaly 02/2024 and has a cardiology and pulmonary appt coming soon. Jake thrives to be like his older siblings and has the most magical imagination and has been such a treasure to his family. Jake knows he has limits but will push forward even though his body says otherwise.
Thank you kindly from my family to yours.
https://www.instagram.com/acheerfulheart2019?igsh=YzAwZjE1ZTI0Zg%3D%3D&utm_source=qr
Update: April 2024: Jake saw his UC Davis CMS specialist Dr. Maselli a few weeks ago (sadly we still have to pay out of pocket) and his Dr has now referred Jake back to Stanford as he is concerned something else is going on besides CMS. Jake just had his echo, ekg, sleep study and test for inborn error of metabolisms done and now waiting for results. What’s frustrating through all of this is NO support !!! Now I understand how parents with a special child feel. They feel alone, isolated, unsupported and then they see other parents with special children getting all the help they need and then often other families are left in the dark. It’s been a 1 step forward, 2 steps back for years now. Thank you for your support and if you read this.
-Rebecca