Friday, August 8, 2008

Another CMS friend contacted me!

Hi everyone, guess what! Another CMS friend!

Meet Denise! She has the Dok-7 gene mutation and is 36 years old.

She's from Cape Breton Island, Nova Scotia. It is located on the east coast of Canada.

She located me on the Facebook CMS forum that has been developed.

Here is her email to me and some of her story. She's quite an amazing lady!

FROM DENISE (this is a cut/paste from her email): CMS is so rare that it is important to share information to anyone we can! That is so interesesting about the lady in the UK whose son was just diagnosed with DOK-7! Dr. Engel was saying that Ephedrine can work but the Albuterol seems to be more effective and less costly! He said that aside from missing this enzyme(DOK-7??) a lot of the receptors on our muscles are either missing or jumbled up together(trash). I really don't have a good clear understanding of it yet b/c it is so new and I am finding it hard to get good info on it. Dr.Engel is going to send us an article on it soon. He also took a biopsy from my brother and I b/c he has never saw more than one person in one family with CMS that all have such varying degrees of weakness! I was saying to my sister, Louise(unnaffected) that we were like lab rats caught in a maze. They were really puzzled by us and wanted to figure things out! We were glad to do whatever they wanted and so grateful to have a name for our muscle problem after all this time. The amazing thing for us was that there was this medication that could and did help us.(never thought there was such a thing) I still can't really believe it. It is all so surreal! My brother, Hughie(also affected) was joking to the surgeon after the biopsy that Dr. Engel(present during biopsy) was like a kid in a candy store running off with the muscle samples to the lab! lol He is dedicated, I tell ya!
Dr.Engel did say that the chances of our having children with CMS would be extremely rare, as you said. My mother and father both are carriers and are unnaffected themselves. (recessive gene) There are nine kids in my family and 3 of us are affected. I am the second youngest child.(36yrs) Hughie, who is also affected is 42 yrs. He gets along well and is an accountant for Nova Scotia Power here. He is less affected than myself. He has been on prednisone(steroid) for about 18 yrs and found that it helped him physically. (I tried it when I was 18 yrs old and it did nothing for me)He is going to ween off them now that he is on the Albuterol. He always found that he would weaken when he went off the prednisone. He said that it was a choice of quality of life over quantity. He chose quality. He is a healthy guy though. My sister, Darlene(41yrs) is the least affected of the three of us. It is very difficult to notice that there is anything wrong with her. She has found that after having each child(2 healthy kids) she weakened more. Both Hughie and Dar have benefitted greatly from the Albuterol like myself.

I am the most affected by CMS. In the last 5 yrs or so I was really finding it difficult to get around. Some days it was even too hard to walk out to the car. I hated going anyway b/c it was such an effort. I also didn't want my Dad, who is 75 yrs old now, dragging me around. He is too old for that, even though he is quite fit for his age. Now I am out and about all the time. (under my own steam)My best friend has just moved back home from Ontario about 1 year ago and I never even went to her house until recently b/c I didn't have the energy for climbing her steps. Now I am popping in there all the time. It is like I have my life back again and I still get up every morning and wonder if I will still feel good. I went to the movies the other day for the first time in about 3 yrs.It sometimes feels like it is too good to last. It is hard to get used too. It seemed like we went to the Mayo and discovered we had CMS at just the right time b/c the type we had was only recently discovered. I guess it was meant to be. I am sooo thankful!

About our birth, everything seemed to go along smoothly(as smoothly as birth goes that is) and our breathing was fine. The first time Mom noticed that there was a problem was when we were starting to crawl around. We couldn't lift our heads up. Mom said Hughie would crawl and drag his head along the floor. We seemed to meet most normal milestones but you could pretty much knock us over with a feather.(lots of bangs and bruises) Thank God I have a head like a rock! haha We never really ran except in an awkward kind of jog. I had to have rods put in my back when I turned ten because of scoliosis. Hughie and Darlene avoided this. Aside from that, I was never in the hospital(or Hughie or Dar)until I was 29 yrs old and got a very severe pneumonia in both lungs. It was touch and go there for a while but now I am more aware of colds and viruses. I find that I have a good cough but when I get really sick and worn out that I get so weak that I can't cough effetively and this is when I get into trouble.

Keep in touch and take care!


1 comment:

Denise said...

I thought I should mention here that although the Albuterol is the medication that works for me and my affected siblings, it is not available here in Canada under the name Albuterol. Here Albuterol is known as Salbutamol. I think that in other places, other than the US, it is also know as Salbutamol. Dr.Engel assured me that they were exactly the same drug. Also, I thought that I was taking the slow release version of the tablets. I now know that it is actually the fast release tablets. Dr.Engel thinks that the fast release is the better option. Just wanted to make that clear in case anyone is going to possibly use Albuterol/Salbutamol as a drug treatment.