Symptoms/Problems
It is important to remember that CMT is a highly variable condition, even between members of the same family; therefore it’s hard to say what problems may affect you.
Fatigue is probably the only symptom common to all people with CMT and is a natural side effect of the extra effort required to perform daily activities.
Early symptoms
The first noticeable signs are often slight difficulty in walking because of problems picking up the feet. The muscles that support the foot in a normal walking gait are among the first to be affected, and therefore the toes drop as the foot is lifted, causing a tendency to trip, and an awkward walking gait.
Children may have problems with apparent clumsiness, or lack of agility, even before any other noticeable symptoms.
Common symptoms
Many people with CMT have very highly arched feet (known medically as pes cavus) and this may be noticeable from a very early age. This can often lead to instability of the foot and ankle, with twisting of the ankles becoming very common. However it is also possible to have a very flat foot, which can also be a problem.
Curled or hammer toes are a very common symptom and can cause problems with shoes causing pain.
The legs can have a characteristic shape – known as the inverted champagne bottle – with the lower legs, below the knees, being very thin, and the thigh muscles retaining a normal shape and muscle bulk.
Symptoms can progress noticeably at the time of the growth spurt associated with puberty.
Some sensory loss and numbness is usual in both the arms and legs, but is rarely troublesome. Rarely, this numbness can be severe, and it is easy then for individuals to injure themselves without knowing it.
Exceptionally cold hands and feet are also common, caused by poor circulation in the extremities.
Later symptoms
The hands and forearms tend to become affected as the disease progresses, and can lead to loss of fine motor control, dexterity and overall hand strength, making doing up buttons difficult and undoing jam-jars and bottles almost impossible.
Pain is often a feature of CMT, and is usually a result of poor walking – an unbalanced foot and ankle leads to additional stress on the knees, hips, back and even shoulders and neck. More rarely, the damaged nerves themselves cause pain, known as neuropathic pain, which is much more of a problem to bring under control.
It is also possible to have some tremor in both the arms and legs. Severe tremor and CMT can be known as the Roussy-Levy Syndrome.
Later in life, there can be increased difficulty in walking, and aids may be needed, such as orthoses (splints), walking sticks, and wheelchairs, although it is rare for someone with CMT to become a permanent wheelchair user. Many people use wheelchairs for occasional use, to relieve the pain and effort of walking.
Very rarely noticed
People with CMT can have a severe curve of the spine (scoliosis).
Speech and swallowing difficulties are possible.
The phrenic nerve which controls the diaphragm can also be affected in very rare cases, and this can lead to some breathing difficulties, particularly when lying flat in bed at night.
"Taken from CMT UK"
Saturday, 9 January 2010
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.
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.
Friday, 8 January 2010
New Year!!
OMG! I can't believe how long its been since I last came on here, so much for trying to do it daily!! So much has happened over the past year and now as we enter 2010 things are starting to look positive for me. Not sure if thats because i have changed my attitude or not, but I have now learned that we draw positive or negative energy toward us, so for the main I look for the positive in everything and for the last couple of months it seems to be working, and a smile doesn't cost anything does it!?
Things started off by me getting fed up with hating Terry all the time. It was draining me and if I didn't have the energy to leave him then I had to make the most of a bad situation. Strange, but as soon as I made that decision, we started to get along better. He still gambles and hardly talks when he's in the house, but I accept that I have no right to try to change him and I won't let him change who I am, especially in the up and coming months, as will become clear.
Ive always been interested in the afterlife and as a child had many encounters with spirits and decided to look into it a little more.
One day I came across a wonderful lady called Lisa Williams who is a Medium and Spiritual healer. Immediately I was impressed and inspired by this beautiful and gifted woman. Terry bought me tickets to see her in September last year and although I didn't get a reading, I was lucky enough to meet the lady. Since then I have followed her blog and joined her website and she has continued to help inspire me on my journey, to a brighter and happier future. She has taught me that all the people in my life have been put here for a reason, to help me grow and learn, however long they are here for. Terry might not be a very nice person but I am supposed to learn something from the relationship. It hasn't stopped me from being a good person, infact it has made me a stronger and nicer person,so I guess she is right and he is helping me in a long fangled way. I hope I am helping him and he is learning from it, but he still seeks payback for things so I don't think he has yet. Maybe he won't.
I believe we choose our lifes path before we arrive here and if we make a good job of this life and learn the lessons we are meant to, we become helpers in heaven. If we get it wrong we come back and do it all again. I have tried and am still trying to get it right, the hardest thing of all is trying not to judge people but I am getting there, with everyone elses help, even though they don't realise it.
Things started off by me getting fed up with hating Terry all the time. It was draining me and if I didn't have the energy to leave him then I had to make the most of a bad situation. Strange, but as soon as I made that decision, we started to get along better. He still gambles and hardly talks when he's in the house, but I accept that I have no right to try to change him and I won't let him change who I am, especially in the up and coming months, as will become clear.
Ive always been interested in the afterlife and as a child had many encounters with spirits and decided to look into it a little more.
One day I came across a wonderful lady called Lisa Williams who is a Medium and Spiritual healer. Immediately I was impressed and inspired by this beautiful and gifted woman. Terry bought me tickets to see her in September last year and although I didn't get a reading, I was lucky enough to meet the lady. Since then I have followed her blog and joined her website and she has continued to help inspire me on my journey, to a brighter and happier future. She has taught me that all the people in my life have been put here for a reason, to help me grow and learn, however long they are here for. Terry might not be a very nice person but I am supposed to learn something from the relationship. It hasn't stopped me from being a good person, infact it has made me a stronger and nicer person,so I guess she is right and he is helping me in a long fangled way. I hope I am helping him and he is learning from it, but he still seeks payback for things so I don't think he has yet. Maybe he won't.
I believe we choose our lifes path before we arrive here and if we make a good job of this life and learn the lessons we are meant to, we become helpers in heaven. If we get it wrong we come back and do it all again. I have tried and am still trying to get it right, the hardest thing of all is trying not to judge people but I am getting there, with everyone elses help, even though they don't realise it.
Subscribe to:
Posts (Atom)