Sunday, February 3, 2008

I have Congenital Myasthenic Syndrome (CMS)

About a year ago, I fell down the stairs- twice in less than a week. This was unusual, because I almost never fall down. I started to notice that I was losing strength/energy to do normal things around the house- mowing the lawn, shoveling snow, even cooking was difficult. Things got worse, and I found myself unable to bathe or dress myself, chew or swallow, or pick up and hold my kids.

What is happening?

I have Congenital Myasthenic Syndrome (CMS) which is a relatively new term for what i've always been told I have- Congenital Myasthenia Gravis. I was diagnosed with this when I was a toddler by Dr. Robert S. Zeller- a Houston, TX child neurologist. I had always had a very weak cry when I was an infant, and didn't make some of the developmental milestones at an early age. My parents became most concerned when I nearly choked to death several times graduating from baby food. Nobody could figure out what was wrong with me, and I had many, many tests. Finally, Dr. Zeller was asked to meet me, and when he took one look at me he said- "Myasthenia Gravis". I was given a Tensilon test, which immediately gave me my energy and strength back. I've been taking Mestinon ever since- as much as 180mg 3 times per day.

Life was pretty much normal for me after that- although I grew up a little bit skinny and weak- I could still mountain bike, snowboard, jog, weight train and tons of other activities.

Why isn't this Mestinon stuff working anymore?

Over the past couple years, I had been developing stomach probems- cramps, bloating, difficulty going to the bathroom with increasing severity....and after several different gastro doctors- finally discovered that I was lactose intolerant. I had hoped that fixing my stomach issues would help improve my CMS, but unfortunatly that didn't happen. I suppose i'm happy that the Mestinon wasn't causing the stomach problems (which I had feared).

I was sent to an Endocrinologist for thyroid tests, my neurologist (Dr. Ringel) ordered an EMG, and my bloodwork was shipped off for genetic testing to determine exactly what flavor of CMS I have. After a few weeks, my results were back- no thyroid problems, and the genetic work shows a defective Epsilon sub-unit in my acetylcholine receptor- but BOTH sides of the chromesome are defective. My dad was adopted, and both of my parents are from the Dallas, Texas area- so it's entirely possible that my parents are somehow related.

Dr. Ringel offered a prescription of Ephedrine Sulfate 25mg capsules 3 times per day- to be taken in conjunction with Mestinon 60mg tablets 3 times per day. He also presribed Sertraline to help combat stress and depression.

I had my doubts about the new drug combination working, but it does work! I am again able to do many of the daily activities I once enjoyed. Let's hope it lasts!


sarah said...

Hi Ken,It was really interesting reading your blog,my son Harry has just been diagnosed with cms,the same as yours ,epsilon achr subunit defiency,which interestingly enough he inhereted from myself and my husband,the exect same defect from both of us ,so we were trying to work out if severel generations ago we were related,charming isnt it!If we are related its waaayyyy back ,a possible as we both have ancestral roots to central europe,but who knows! Weve been waiting about 5 years for a diagnosis , hes 11 ,and was misdiagnosed with a mitochondrial disease .Anyway its comforting to see an older version of Harry doing so well,Harrys sysptoms are somewhat mild, skinny,ptosis ,ophthalmoplegia,very handsome.all the best Sarah

Toby jones and congenital myasthenia said...

hi ken my 17 month old son has cms he was born with it so i guess when no a lot off the back ground if we can be off any help email me

rae said...

Hi Ken. I've just started taking ephedrine for my muscle weakness. It seemed to have some effect in the clinic, so I'm going to see whether it is beneficial over the next couple of months. I'd be really interested to know more about your experience with it... did you get any side-effects? (it made me very shaky at 30mg, so i'm starting on 15mg and then increasing it). has it continued to work for you? has the benefit of taking it improved with regular use?
All the best to you,

cd said...

just saying hello as well; i am in the uk, and my niece (who is now 7) was diagnosed with CMS when she was an infant. i can't remember off-hand what medication she is on (i know ephadrine is one of them). i will let my brother and his wife know about your blog - i am sure they will be very interested!


Kate and Eric said...

Thank you for posting your blog- my son was recently diagnosed with CMS at 28 months. Reading your posts has been a great source of help to us.
Best to you and your family.