Hello all CMT members, I brought this discussion up for the new members, hopefully they will share their story!
It took me about 2yrs (again after an accident) to be diagnosed. It appears that having a trauma of some kind can often be the trigger of some underlying disease or other. Our bodies aren't as robust as we think they are!
It took 31 years
My diagnosis was made in Oct. 97 after a long bout of visiting chiropractor's, a fall or two a neck injury etc. had causes problems functioning; I was age 40 but so much of my "differences" were explained as my whole life I was questioned why I help my pencil different or what I peeled potatoes so weird etc. I marched in marching band for 4 yrs in high school but had to practice my music to the point of never looking at it but rather watched my feet as I marched to keep from tripping and falling. I have CMT1X and so far the only one in my family diagnosed, but now that I know what to look for, I see it in others of my family but, they don't listen to my concerns as they are not as severe. I became and advocate of awareness b/c my paternal grandmother had lots of the symptoms and no one ever understood why she had tremors, why she would work and work and seemingly fine, then crippled up and in bed for weeks at a time.At times, I was told she leaped fences with the goats as she took care of the farm animals and yet, had problems getting around and would never ride in a car b/c of motion sickness. My Daddy had flat feet, was turned down for military enlistment and I saw him work hard and then be very sedentary for days on end to recuperate.
I know it PCM, seems like the robust is long gone from me!
Three decades and a year! HM, that is just unbelievable that something can go on for so long without a diagnosis.
CM, I know what you mean. I see signs in my son and grand kids of autoimmune and it terrifies me! Especially in the kids. My great grand kids were born with Psoriasis. At least 30% of all with Psoriasis will develop Psoriatic Arthritis, which was once known as the young man's disease. My 11 year old grandson always complains of his back hurting. His pediatrician ignores his complaints, kind of like mine did with what he dismisses as 'growing pains'.
It's hard to talk awareness to those who prefer to be 'unaware'!
I have shared and shared my story not so much for my own attention or complaining but to help others who may be having questions in their own head but afraid to talk about it for fear people think they are imagining and fabricating b/c so much of the time people think I'm normal until I show them my hands but because I don't look "gimpy" par se they never dreamed I had anything going on except those who take time to know me can look in my eyes and know I am not feeling well or have pain.
One lady I went to church with for years, had suspected all along I had Charcot-Marie-Tooth (classified as one of 40 MDA diseases) b/c she had an aunt her had it and she saw and noticed my hands and how I walked and how I did things different b/c I could not grip things like a normal person would. She came to me after my diagnosis and told me she had seen it for years but never said anything b/c she did not want to hurt my feelings but she knew b/c her aunt did things like I did and had same hand issues and leg and foot issues. AWARENESS is so very important. Denial does not change anything knowledge and acceptance can make a huge difference b/c then you can begin to learn how to become able in-spite of the weaknesses.
I walked on my toes 95% of the time from early walking age til about age 10. My youngest daughter did also which was my first clue to look into my children having it; my oldest granddaughter reminds me of me at her age in young teens, and we've had long talks as she was under 1 yr old at my diagnosis and has seen me unable and now back to functioning b/c I've learned to pace rather than push, and to work smarter rather than harder.
She has tried to talk with her Mom,about her pain in hands and wrists; she has trouble running and her heart has weakness; she had open heart surgery when she was 5 yrs old; but her mother is in denial of the possibility and even has minimized my issues as Nana is just using it to keep from having to do things she used to; She had me in my younger healthier years and cannot accept I have progressed so severely b/c she's seen me do so much and push so hard. I fear she is pushing herself too hard to keep up with her peers b/c her mother refuses to see she might have a mild case; I am concerned she will progress as I did simply b/c too many expect too much and she tries to live up to the expectations. Already she works two jobs and going to put herself through beauty school.. I caution her about the stress levels affecting her. Only can help by awareness b/c each have to find their way. But, knowledge empowers us to cope much more than to try to stick our head in the sand about it.
Seems we share the same ideas! I am still trying to learn to pace, sometimes I do well, other times not so much! I really push when the kids are here!
Yes, I do rememeber realizing after getting in touch with others with cMT, how close I felt to them b/c they understood things before I voiced, more than my own family. we do have a kindred spirit present. <3
SK said:
Seems we share the same ideas! I am still trying to learn to pace, sometimes I do well, other times not so much! I really push when the kids are here!
After reading all of your comments, I realized I had problems at a very early age. I sprained ankles and feet numerous times and thought it was me just being clumbsy. Later in life people kept asking me why I was limping. Didn't know I was.I remember having a problem wearing shoes because my toes were crooked. Finely I saw a neurologist without any recommendation and did the nerve study and found some neuropathy. Many more years passed and one of my knees started to get a bad curve inward. I was put in a knee brace but it only hurt more. My walking became horrible, causing bad back pain which sent me to chiropractors over and over again. Finally I scheduled an appointment myself with a different neurologist at the age of 68 and finally got the diagnosis. My toes are turned under and my knee is a lot worse now, but you know what; I'm thankful to God that He guided me to the right Doctor. Now I know what we have has a name and we can share our stories with you. Such a Godsend this group is. Thanks to all of you. You are my inspiration. Love all.
Hello Martha,
Waiting 68 years just seems inconceivable in this age of medical science and technology! I'm so very glad they were finally able to put a name to this disease as well, and I hope they will finally be able to get somewhere with genetic and stem cell research!
Thanks for sharing your stories, I encourage others to also share theirs.
CM said:
I have shared and shared my story not so much for my own attention or complaining but to help others who may be having questions in their own head but afraid to talk about it for fear people think they are imagining and fabricating b/c so much of the time people think I'm normal until I show them my hands but because I don't look "gimpy" par se they never dreamed I had anything going on except those who take time to know me can look in my eyes and know I am not feeling well or have pain.
One lady I went to church with for years, had suspected all along I had Charcot-Marie-Tooth (classified as one of 40 MDA diseases) b/c she had an aunt her had it and she saw and noticed my hands and how I walked and how I did things different b/c I could not grip things like a normal person would. She came to me after my diagnosis and told me she had seen it for years but never said anything b/c she did not want to hurt my feelings but she knew b/c her aunt did things like I did and had same hand issues and leg and foot issues. AWARENESS is so very important. Denial does not change anything knowledge and acceptance can make a huge difference b/c then you can begin to learn how to become able in-spite of the weaknesses.
I walked on my toes 95% of the time from early walking age til about age 10. My youngest daughter did also which was my first clue to look into my children having it; my oldest granddaughter reminds me of me at her age in young teens, and we've had long talks as she was under 1 yr old at my diagnosis and has seen me unable and now back to functioning b/c I've learned to pace rather than push, and to work smarter rather than harder.
She has tried to talk with her Mom,about her pain in hands and wrists; she has trouble running and her heart has weakness; she had open heart surgery when she was 5 yrs old; but her mother is in denial of the possibility and even has minimized my issues as Nana is just using it to keep from having to do things she used to; She had me in my younger healthier years and cannot accept I have progressed so severely b/c she's seen me do so much and push so hard. I fear she is pushing herself too hard to keep up with her peers b/c her mother refuses to see she might have a mild case; I am concerned she will progress as I did simply b/c too many expect too much and she tries to live up to the expectations. Already she works two jobs and going to put herself through beauty school.. I caution her about the stress levels affecting her. Only can help by awareness b/c each have to find their way. But, knowledge empowers us to cope much more than to try to stick our head in the sand about it.
I have had problems since age of eight. I could never finish the mile in school, and have always tripped over my own feet. I'm trying to find out if I have CMT. I'm currently having "weird" neurovascular issues with my eyes, and could lose my site. I also have a number of other major, rare diseases.... Dercum's Disease, Trigeminal Neuralgia, and Lupus. My toes have been curling.... one, in particular, horrible cramps, when I try to stretch and point my toes. Is there a test? I keep seeing that there is genetic markers, but docs keep shrugging their shoulders, when I ask about it. I'm so very frustrated and scared. It's a miracle that I'm on my feet, and taking care of a house and yard, alone. I don't know enough about it all to know what to ask....... just reading other's stories to see how it all fits.
Faith ;
I know you have been a long time wondering and needing answers; I can relate; This is why being here is a good step for you as we share info. it may sound familiar to you and bells ring. If you felt back at age 8 there were problems, you really do need some answers. I always felt so inadequate compared to my peers, as well as clumsy and just absolutely a real dork physically.
To answer your question about tests and markers, yes! There is a blood test that can be done; it is very expensive and has to be followed exactly for the results to come out correctly, but can be done by MDA if a doctor recommends that you show signs of being a possible CMT patient.
Are there any in your family, whether diagnosed or not, that show some similar symptoms or problems. CMT can present and disguise as other things; I went 10 yrs thinking I had arthritis; then was told I had Lupus, MS, Fibromyalgia, Carpel Tunnel or a form of MD.
After lots of tests and no answers I had a good diagnostic doctor recommend me to Mayo Clinic,Rochester MI, referred me so insurance would cover the expense and also referred me to MDA for help. So, if you have some of those issues but still no real answers have them write referral to do DNA testing through Athen Diagnostics. They have the only patented test, or did at the time I was diagnosed; However, at that time only 7 types could be determined by tests of DNA. Now, I'm told there are over 59 types and mutations and more being discovered all the time. The reason is many are not diagnosed and do not know they have it but each off spring has a 50/50 chance to have it if only one parent has it or has markers and is a carrier.
One of the reasons to be properly diagnosed isn't just for treatment(as there truly isn't any real cure or treatment) but to make choices of having children and passing it along in the genetics. Being able to test your child early and try to prevent some of the deformities early on before damage is done b/c of not knowing.
Hang with us here and hopefully you will be on the right track and find some answers. If I can help further feel free to contact me via email or I can privately message you with a phone number to talk on the phone; I am a support group advocate of CMTA and happy to help in whatever way I can! I've been affected my whole life but was diagnosed in Oct. 97, so have had 18 yrs of knowledge and experience knowing what I'm living with to help and encourage you!