Monday, March 30, 2015

One way to end Charcot Marie Tooth?

One way to end CMT is for people that have it to refrain from having their own dna offspring. I was told in 1980 by a genetics counselor I had a 50/50 chance with each pregnancy to have a child with Charcot-Marie-Tooth. My first reaction at that young age was based on the 2 people that I knew who had it my father whose symptoms were so slight he did not know until I was diagnosed that he had it, and myself. I had corrective foot surgeries in 1977 and 1978 that changed my life - I thought forever! CMT wasn't so bad I thought and medical care just keeps getting better so I ignored the warnings including the concern for my physical ability to handle pregnancy and birth, I just did not equate the two with CMT and possible progression of my disease which did occur with each pregnancy. I rolled the dice so to speak because I wanted children so badly and it never occurred to me that if I did pass on CMT and that it could be worse or progress faster than mine had, I got lucky, 3 kids no CMT.

If there had been access to the Internet at that time I would have had a better understanding of how CMT can affect people differently and it can be so much more severe in childhood than mine was. I may have made a different choice. If I had experienced what I have in the last 10 years from progression earlier in life, I would not have taken more than one chance if even one. I can't imagine my life without my children it was all I ever really wanted to be was a Mom. But I did take the chance and feel very grateful they have all tested negative. My children have had other health problems unrelated to CMT which include epilepsy, endometriosis, IBS, lactose intolerance, poor vision etc.

Now the first baby by way of In-Vito fertilization where they were able to remove the CMT gene before implanting the egg in to the mother has been born. Pretty crazy. A step in the direction of creating healthier less physically challenged generations. Can't imagine it is affordable for the masses but maybe eventually. Unfortunately there are many people who have CMT and just don't know it yet, some are grandparents when they get diagnosed. So a world genetically engineered not to have CMT is a long way off.

Fortunately there is treatment coming which will stop the disease from progressing and in that I find Hope. If treatment could begin with proper diagnosis future CMT patients would potentially live normal lives and possibly never even know how lucky they are to miss out on the symptoms and nagging black cloud of progression hanging over head. Even for myself now, looking at using a scooter, if I could take a medication and know that I would never get worse I would be so happy. The day is coming hang in there CMTers. Have hope!

Lord what news through your guidance I believe, and seemingly a man made miracle taking the CMT out of this child. Help us Lord to not become God in the laboratory and in procreation. Help us also Father to find better ways of diagnosing ilness' and better treatments for them. It has been a long 54 years for me with CMT. I have never known life without it which in a way is it's own kind of blessing. Please give the doctors working with genetics wisdom and help us all to understand the direction things should go. "Lead us not in to temptation but deliver us from evil". I am so grateful to have this forum to speak my truth and what your spirit prompts me to. I need continued wisdom and discernment myself, wanting only to walk in you will. Amen

Thursday, March 26, 2015

Muscle spasm

Lord thank you for your patience with me I am undeserving but grateful.

My husband just bought me a brand new box of 64 Crayola Crayons and if you  know me at all you know how thrilled I am! Color, coloring, creating, wonderful. When I am need of nurturing coloring connects me to my mother who was such a good nurturer. She would sit and color with me in the hospital and at home when I was sick. A brand new box of crayons is a world of possibilities and is so much fun to open. Each crayon perfect and waiting to be used. I hope God sees me this way not perfect but willing to be used by Him.

Charcot-Marie -Tooth my chronic disease is not usually the cause for my pain. Overdoing it and when I am physically tired can cause pain. I get cramps or sore muscles but overdoing it for me can be simple things like pulling weeds for 10 minutes or walking without my AFO"s for too long. The horrible, awful, burning, aching allover  (don't want to live) pain is from fibromyalgia and since we moved here I have had only 3 of those days for me each accompanied by huge barometric pressure changes and storms. When I started with hip pain last week my mood plummeted because I immediately think the reprieve is over and I am back to everyday pain, but it wasn't the case. Sometimes we diagnose ourselves in to trouble which as a former nurse is easier for me to do.

I have been in terrible pain. Felt like a knife stabbing me every step I took. Saw my chiropractor yesterday and he was awesome! Left there feeling so good. Turns out it's from my piriformis muscle being is spasm. My spasm was causing my left leg to shorten 1 inch! He warned me it may try to spasm again and it did last night. In tears my poor husband holding me nothing he could do. My chiropractor told me to never stretch a muscle in spasm because it causes micro tears in the muscle and more pain. I am resting and laying on a heating pad which is helping. Taking drugs that are strong enough to hide the pain. So what put it in to spam to begin with? Partially the new physical therapy exercises and possibly walking down some stairs- not exciting stuff like mountain climbing or zip lining but that's my body. It is always something it seems, but pain is a game changer isn't it? I can't really blame this on CMT because anyone can get this it's just that their story would probably be more exciting. Still trying to adapt to living within my capabilities, it's a constant challenge.
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Buttocks seen from behind (the piriformis and the rest of the lateral rotator group are visible)
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Muscles of the gluteal and posterior femoral regions seen from the front.

Thanks for reading and checking out my blog. Please leave comments and any prayer requests. Tell me what activity you do when you are in need of being nurtured or comforted. I also appreciate your prayers. I am off to color!

God you are a powerful and the mighty healer. I need your healing touch and your peace. I thank you for my loving husband and his sweet gestures. Help me to handle the pain better and to learn from this what I need to do to be healthy. You are my comfort and I lay myself before you broken but willing to answer any call you give me, I love you Jesus. Amen

Thursday, March 12, 2015

To Scoot or not to scoot

Not a long post but one with lots of links to other posts in case you have time to read them.
It is getting to that point for me trying to figure out when to get a scooter and which one. Of course I first have to get my insurance to be on board. I want to  remain as independent for as long as possible and a scooter is what will help me achieve that. We went to the only medical supply store here and I test drove one on low power then turned it up to half power and almost took out a shelf in the store! Kind of fun! Keeping a good sense of humor is so important to this chronic illness gig. I looked online and even found a scooter that will go on the beach which excites me beyond explanation.

Smaller than a coconut!

Before I get a scooter we have to move somewhere that is handicap friendly. The small place we are in is not. I know you are asking why? how? well the rental market here is tough and having a dog even if he is small makes things harder. So when we were in a pinch we rented this place and actually given all of my infirmities in the last year it has been good to be in a small place but it is not very accessible and that is unchangeable. The hill from the driveway is steep and we have to go around through the yard. Also the kitchen drops down a step but I really don't need the scooter for inside at least not yet. Really I need it to go places, beach paths, shopping, events etc. It won't do any good to get a scooter until we move so on craigslist I am but Maui is not handicap friendly in general so patience must be my choice. That and prayer. Lots of prayer. God found us this place and got us this far I know He will complete our journey. Patience.

 Lord you know my needs but I am asking for patience during this process and for your favor to find us a new home, something quiet, safe and big enough for us to stay a long time. A place where we can serve you father and reach out to others. The place you have for us, help me find it. Lord give me strength to endure and wisdom for coming decisions. We love you Lord. Amen.

*3/5/16 Praise! We are in our handicap accessible apartment and I have had my scooter for more than 3 months now and it is everything I had hoped it would be! I love the independence and the ease in getting myself around here in our complex or to the doctor. When we go places together it is really nice for me to move where and at the speed I want to go!