Luke and Congenital Myasthenic Syndrome: August 2009

Liz contacted me via email and started her own blog! Another CMS friend! YAY!

Here is her blog address: http://cmsliz.blogspot.com/

And I love, love that our cms friends send pics! Liz..your beautiful!

Luke and Congenital Myasthenic Syndrome

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! Our email: andrea@astudioproductions.com

Luke's current status NOV 2012

AGE: 12 years old (DOB: 11/21/05)

Weight: 72 lbs

Height: 48"

*Medication intake:

*Mestinon: 5.5ml 4x a day5

*Robinul 2.4ml 2x a day

*Zyrtec 5ml per day (PRN) and FLOVENT

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:

Updated as of 1/23/18!

He's amazing! 12 years old...running, eating, and in percussion band! WOW! Talking and being a regular kid!

Announcements!

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

Saturday, August 15, 2009

Found another CMS friend!