Welcome to our blog site. The purpose for this site is to educate and advocate for Congenital Myasthenic Syndrome. Our son Luke was diagnosed with CMS at the age of 18mths and has the Rapsyn gene mutation confirmed by the Mayo Clinic in Rochester, MN. Luke was in the NICU for 94 days. Below are detailed links month by month of his journey. Also, the Mayo Clinic journey is below. I chose a blog format for Luke's website as I hope this helps any parent and/or medical professional understand the day to day challenges with CMS. God Bless and warm regards, mom
P.S. I'm slowly adding cms friends below. Send me an email and picture and I'll add you!
Formula tube intake per day: 240ml of Nutren Jr. w/fiber
Water intake per day (syringed in tube): 300ml
Food intake: Pizza; meatballs; beans; ice cream; anything soft..but still not hard meats..(he has a hard time chewing)
Physical milestones: Officially walking without assistance. He started walking at 4...but with a walker. Now, he's full blown running!! Everywhere! talking non-stop...knows his alphabet and numbers and loves to read. (he's very, very, very smart!) He loves school and is one of the smartest kids in the pre-k class! He's doing amazing! Thank you Lord!
Luke has a new baby sister named Hannah Hope. Born 11/19/08. We were informed by the Mayo Clinic that she does not carry the CMS gene mutation. However, our sweet Hannah was born with another genetic disorder. Trisomy 21. (Down Syndrome) We were shocked by this..however, by God's grace..we are on another journey loving and caring for an amazing child. Thank you Lord for the priviledge. And..thank you for showing up. We are having up's and down's with her diagnosis emotionally. It's very fresh. However, we are relying on God's strength to sustain us. We believe..this child is yet another amazing gift from our Father in Heaven. Much love, Mom
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Our staff of doctors for Luke
Dr. Susan Iannaccone - Primary Neurologist
Dr. Selcen/Dr. Engel - Mayo Clinic Neurologist
Dr. Marla Conger - Primary Pediatrician
Dr. Andrew Gelfand - Pulmologist
Dr. Ewen Tseng - ENT
Dr. D. Hermann - Gtube/fundo surgeon
CMS kids when sick..
A temperature is a red flag. Typically, cms kids will get very weak and sometimes choke on their own secretions while dealing with a temperature of 100! 1) Have suction pump charged and ready 2) Have oxygen (canula) hose ready 3) Cut tube feeds in 1/2 and replace with 1/2 formula - 1/2 pedialyte HYDRATE, HYDRATE, HYDRATE -- try to give them 60cc's of pedialyte per hour along with tube feeds cut in 1/2. This is what we found helps Luke stay OUT OF THE hospital.