2008 Neurology Symposium - Presenting Luke Hughes

A huge thank you to Dr. Susan Iannaccone for allowing us the opportunity to present Luke and help us become more knowledgeable on the subject of CMS. We are so very humbled and please know...we will always be available for any presentation! We want our Luke to have the best care and knowledge.

Also..a huge, huge thank you to the Neurologists that contributed and answered our questions. Oh...and big hugs for allowing me to share my passion in building community. The forum board will be up very soon.

Warm regards and God bless,

Andrea Hughes (intense mom to Luke)

Hi....well..we made it! The Conference was today and we were just thrilled with the outcome as it was everything we hoped for as parents. (and Grandparents!)

Luke did awesome. At one point he was insistent on grabbing my microphone and started crying...before I knew it....here I am talking and I turn my head and he has one! So cute. You see! Even the Neuro's spoil him. LOL

Overrall, it was amazing. The Neurologists were so gracious and allowed me 'the floor' for about 10 minutes. We got to say exactly what we wanted and asked the questions we were desperate to know.

Longstory short, the best thing we heard all day is that with this gene mutation...Luke has a great life ahead..GOD WILLING AND IF GOD WILLS IT.

In other words, what we heard today is that this disease is not regressing. This neurologist said it's pretty much the disease and then treated. The general feeling we got is that most of the CMS patients do really well with treatment. Glory to God! And of course...we love hearing that these other patients are married with children. Those are heavy words for us and it just made us giddy. As Jonathan would say.

The medical stuff for CMS PARENTS:

We asked the question about the long term use of Mestinon and what happens when mestinon might not be as effective later in life?

Answer: We were told that what they do is stop the mestinon for several days and start giving a drug called "Drug Holiday". Literally..just like it sounds..you take a Holiday break from Mestinon. At this point, and I hope I get this medically correct...the recptors take a break and rebuild themselves with the drug holiday drug.

At this point, after a few days of this drug...you go back on Mestinon and it's typically very effective and in some cases the patient doesn't need as much mestinon! Whoohoo. (I pray this for our Luke)

**A big thank you to the very informative Neurologist.

We got the overrall impresssion that CMS patients (with the Rapsyn gene) do very well with treatment. The overwhelming thing we learned is that all CMS patients typically have this ongoing decline during sickness and infection.

Also, we were confirmed that 'heat' really wipes these kiddo's out. One thing we've always noticed about Luke is that high heat (for ex. he's outside sitting in the sun...makes him extremely low energy and he becomes very lethargic)

OK..so...I believe that's it.

The only downside to CMS is the following complications are:
Lung disease; orthopedic issues and of course constant respiratory distress.

Obviously...I'm praying Luke is protected from this stuff. As I know anyone reading would never want this as well.

So...here you go blog family. We are proud, weepy, emotional and just so thankful to God for yet just another miracle in our lives. It's literally just day to day for us.

Pics are of me/Jonathan, Lulu, Dad and my stepmommy came in later! We missed her pic! But..we are grateful you came momma!

P.S. right at the part where we walk off stage...stick with it as I'll start my speech thereafter.

Thanks Lulu for video taping!