Charcot Marie Tooth Syndrome

My family have a hereditary disease Called Charcot Marie Tooth Disease/Syndrome. A disease we all thought I had "escaped" but unfortunately reared its ugly head later in my life, where the others in my family affected have grown up with it. I'm not sure which way I would have preferred it, but here is the story of my CMT journey so far. I can't talk about my journey without mentioning other family members and later new found friends, for which I make no apologies, because without them as "role models" I would have no hope.

Apparently we all have my Nanny Barley to thank for the legacy she passed down to atleast half of her 13 kids, along with a few other diseases like Diabetes, deafness and heart problems. Bless her, even tho she suffered with these, she was a hard working single Mom (Grandad died of TB when my dad was very young) and she was a great Nan to literally dozens of us grandkids.
My Uncle suffered terribly with his feet and wore calipers and special shoes but back then the medical people told him that he had Muscular Dystrophy and although the symptoms are very similar there are differences, and the invention of Gene therapy has helped in distinguishing the difference. Indeed, women can't get MD so it couldn't be that, however, his family still have trouble getting their heads round a different diagnosis to what they believe was a factor to his death 26 years ago. Its important though that they know for real, for future generations what they have and I believe I am making headway.
My dad always had odd shaped feet and one was bigger than the other but he never really made a big deal of it. So when my sister came along she didn't start to walk till she was 3 years old and when she did she was always falling over. Her feet were terribly deformed earning her the nicknames of "cradle feet" or "hoover feet". Her instep was high and her toes were clawed, as were my dads. I on the other hand had quite nice feet, and although I was never very athletic, I did fall over but never as much as Cindy. My ankle would go over and I would have no end of sprains. I always had very pretty, dainty little hands too, but I had no strength in them and people used to think I was a nervous kid as a shook like a leaf. I used to agree it was nerves and leave it at that as I had no idea why I did it.
When my sister was 16 she started having corrective surgery but she was never any better at walking. In fact she grew worse.
I had two kids of my own and my son, Kevin, was gone 2 before he walked. His ankles were always floppy but his feet didn't look like the rest of my family, but in the back of my mind I knew, he had it. We weren't clear at that time though how it was carried through the genes. By the time he was five he was falling over all the time so we went for tests and he was diagnosed with it, and then of course they explained how although I hadn't any of the normal symptoms I had the faulty gene and was a carrier. All through his childhood he had to have specially made shoes then when he got to about 14 they decided he was fine and discharged him. He started to wear normal shoes but suddenly his feet seemed to grow overnight and he was in a massive size 15 shoe. He was tripping over his own feet too, but he is happy and as long as he was okay I was too.
Meanwhile I had started to get a slight pain in my knee, which I tried to ignore, but then I developed an odd corn under my foot, and it took a while for me to realise what was happening. I bumped into someone I hadn't seen for years and she asked what I had done to my leg. I asked what she meant and she said I was limping, so I had a good look at myself. My toes had started to claw and I was walking on the inside of my foot. No wonder my knee was hurting. I got a referral from the GP to my Neurologist, Dr Davies at the Queen Elizabeth Hospital in Birmingham. Turned out the CMT had finally got me, my instep had collapsed, thats why I had gone up a shoe size, also the muscles start to atrophy and die so thats why the toes start to claw. He sent me for braces for my ankle and over the years everyone has been great at trying to get them right. But to be honest none of them have been any use.
Another effect of CMT is wasting of the hands, GREAT!! my dainty little hands were infact that way because they were dying. I hate my hands now, its like looking at a skeleton with nylon stretched over it. My fingers are starting to claw. My tremours are actually worse than ever and I am on medication for them. They also stopped me having migraines and I lost 3 stones when I started on them, so I am happy about that!
My daughter got married and I saw a video of me walking up the aisle, OMG! I realised then how bad I was walking, I cried for hours after I saw it. It took me a while to come to terms with it and although it has left me requiring a new hip, which I get in 4 weeks time, I wear a brace on my foot and braces on my hands, I feel like I am one of the lucky ones. I am 50 now, I have wasted the last 5 years or so on Terry and his business, but the first 45 years I could walk and the disease didn't affect my life, like the rest of my family. When I get my new hip, I am determined to make the most of the gift I have been given, and not to waste it on doing things I don't want to do.
I have made a lot of friends who also have the disease to varying degrees and are affected in various ways. Some have been sent into my life to help me realise their are people worse off than me, who can lead a full and valuable life. They all give me inspiration in one way or another. And as long as they are here, I'll be there for them.