PDA

View Full Version : Charcot Marie-Tooth (CMT)



rohrer01
09-05-2014, 06:44 PM
Well, folks, that is my diagnosis after my DNA testing. I feel it belongs here because scoliosis is one symptom of this disease. So I will use this thread to talk about CMT even though this is a scoliosis forum. There are those of us that have special issues relating to a CMT diagnosis that may have a direct impact on our scoliosis from pain to severity to what kinds of exercises to do and NOT to do (walking is a big NO NO believe it or not) to whether or not to have it surgically corrected.

I don't know what kind of CMT I have, yet. My appointment is next week. But if there are others out there suffering from the same thing, feel free to talk here.

The incidence of this disease is 1 in 2,500 people. It sounds like a long shot, but this is actually the most common neuromuscular disease out there.

The month of September is CMT awareness month, too. How ironic that I found out in September! LOL They have their own website so feel free to visit it. You can get there through the NIH website since I don't have their web address handy.

I will do my best to answer any questions. One question I have to find out for myself is whether or not my scoliosis is still classified as idiopathic since it really is secondary to CMT, just like my muscle wasting.

I will post more as I know more. I will still keep my timeline thread (I have some imaging CDs) alive during this. That thread has proven invaluable to me. But this one may prove invaluable to other CMT sufferers.

You all have a great day!
Rohrer01

LindaRacine
09-05-2014, 10:12 PM
I'm surprised to read that 1 in 2,500 people have CMT. We actually have very few patients with the diagnosis. Maybe there's a whole bunch of people who haven't been diagnosed.

Pooka1
09-05-2014, 10:45 PM
Wow Rohrer, finally a diagnosis.

There was a girl who putatively had that diagnosis on the forum several years ago. Scoliosis is associated with it so there is no issue whatsoever for posting about it.

I have read about CMT in the past and I don't recall any mention of some of your symptoms. But the DNA does not lie.

Now you can proceed with knowledge.

rohrer01
09-05-2014, 10:55 PM
Wow Rohrer, finally a diagnosis.

There was a girl who putatively had that diagnosis on the forum several years ago. Scoliosis is associated with it so there is no issue whatsoever for posting about it.

I have read about CMT in the past and I don't recall any mention of some of your symptoms. But the DNA does not lie.

Now you can proceed with knowledge.

My symptoms do fit. Chronic pain and fatigue. I can no longer walk normally. My calf muscles are gone so my lower legs are really skinny. My balance is bad and I'm uncoordinated. I've started falling. My strength is so bad in my legs that I can't do a sitting leg lift of only 12 pounds with both legs together. I've deteriorated so much since May. There are so many really weird things going on. At first I really thought it was Muscular Dystrophy, too. My symptoms are similar. That's why CMT is listed on the Muscular Dystrophy Association's website as one of "those". ALS also is listed as a dystrophy even though the muscles test negative and there is only a diagnosis by exclusion. With how fast my dad died after he could no longer walk normally, I thought for sure ALS. There are many kinds of CMT. Some are not so bad and can go undiagnosed, as Linda mentioned, and others that are real monsters. I think I have a monster with what's been happening to me. But, I won't know until Tuesday.

Yes, I felt fine having a CMT thread because it does relate to scoliosis. I have a pregnant niece who has pain and fatigue and scoliosis. She's going to get tested, too.

It started spontaneously with my dad.

Oh, I also have extreme weakness in my arms and wrists. I dropped all of my groceries once because I thought I was still strong. Cooking with large pots is very dangerous for me. My whole body quivers from the weight of a cooking pot. I did some canning over the last couple of days, probably why my concussion headache won't get better, and I knew I'd pushed my limits and put myself in danger.

I am also getting a walker soon. I have just gotten my disability card and my doctor signed "permanent".

So sorry this is chopped up. My thinking is kind of scattered. I have problems with my hands. But I've had problems with my hands for years. It's the one thing that kept me from being a top-notch musician and I opted for the sciences (I love them, too!). I could never move my fingers fast enough when I need them to. My sister can't even button her own shirts. Her hands are worse than her legs. I would have to say my legs are worse than my hands. If only you guys could have "seen" me when I first joined the forum and "see" me today. My daughter hadn't seen me for a couple of months and when she saw me walk and really got scared. She really NEEDS to be tested but is resisting. But it's only been a day. I hope she does get tested and is negative. Then I know my grandson will be fine. I'm worried about them all (kids/grandkids) more than myself.

Pooka1
09-05-2014, 11:13 PM
Okay then. You know what you are dealing with. Knowledge is power.

Take care.

LindaRacine
09-06-2014, 12:36 AM
Rohrer... Has anyone talked to you about cervical myelopathy? I don't know if your hand weakness issues are normal for CMT, but it's definitely normal for cervical myelopathy.

--Linda

rohrer01
09-06-2014, 01:12 PM
I have cervical dystonia. It pinches both the blood vessels and the nerves. The muscles involved are near the brachial plexus. But, in general, my hands aren't weak. They are more shaky and I have one finger that twitches on my right hand. And, as I said in the other thread, I can't move my fingers fast enough to be a really good musician. That's what tipped the scales for choosing a college major. I don't have to have fast fingers to be a scientist. I wanted to be a doctor when I was going into college, then settled for nurse, then achieved neither! But my hands weren't shaky back then. Even now they aren't shaky unless they are under some strain. That wouldn't be good in medicine either way!

titaniumed
09-06-2014, 01:34 PM
Rohrer, you have known all along that something was happening to you.....and the dropfoot, falling, twitching, dizzies,weakness, fatigue etc are all signs of things that are extremely difficult to pinpoint. I guess the repeated visits to doctors has to happen in order to finally know whatís happening.

And scoliosis now becomes secondary.....

I wonder sometimes if actually knowing is an advantage, at least with a terminal disease. I donít know if I really care to know. I have to worry a tad about all of this due to history of ALS in my family. If I get it, its called FALS. I try not to let these things be over-consuming.....Semi-ignoring like I did my scoliosis many years ago is probably best for my sanity. My dad was a scoli also....thoracic only, not lumbar....

And yes, exercise at least in ALS is not, or was not, advisable. Some range of motion yes, exercise no. I almost think that if you cant build muscle normally that itís a signal. They will fill you in as far as CMT is concerned....Iím sorry about all of this.

Take things one day at a time.....

Ed

rohrer01
09-07-2014, 12:47 AM
Ed,
I understand where you are coming from as far as there not being a treatment for a terminal illness. It greatly affects my family, however. My daughter and son have not inherited idiopathic scoliosis. They have likely inherited CMT. I don't know about my oldest boy, as he doesn't have scoliosis. My grandson, at age 4, has a slight curvature around T9. I told the doctor that I saw his x-ray and thought it looked suspicious around T9. Now this isn't some general practitioner. He is the head of pediatrics at a major hospital. He saw what I saw. My grandson has the same rib hump that I do. This changes everything if it is CMT. It means that likely two of my children and my grandson are all going to have to live with this.

My symptoms were so vague. My daughter was honest with me today and told me that she thought I was seeking attention until we'd been separated for a few months and she saw me walk. She knew at that moment that I had never been faking even though I didn't have my diagnosis, yet. She said she felt sad and ashamed. I have been treated that way pretty much my whole life. It isn't until recently that the symptoms started to progress exponentially. But they've been there from the day I was born with slightly clubbed feet that are normal now. I grew up being called a hypochondriac because I was in pain as a child! My daughter has complained of pain since she was old enough to verbalize it. Me and every one of my kids suffer chronic fatigue, although we all keep it our "secret" and have never complained to a doctor about it. I finally did admit it to the doctors early this year. My dad was "lazy". He suffered his whole life being called LAZY because by the time he got done working 10 to 12 hours he could barely stand and would fall asleep on the couch. If he had been diagnosed, people would have been more understanding and perhaps not called him names when he was doing all he could do. I know how that feels. Having this diagnosis, whether I have fatal CMT or not (not all are fatal) gives me the right to say, "I am not lazy. I'm doing the best that I can." It feels very vindicating and freeing in a way that I can not even describe.

I had a psychologist say I had hypochondriasis when I had an MMPI for a surgical procedure that I thought about for NINE months before coming in. It was my former pain specialist that suggested the procedure. The psychologist did say, "Even though you scored high on the hypochondriasis scale, it's interesting that you really do have pathology. But I'm not going to recommend you for any surgical procedure." When I saw the pain doctor, the first thing that came out of his mouth was, "Why are you surgery seeking? The only thing I will do for you is give you an epidural." Now remember, I thought about this procedure for NINE months before I even considered coming back and talking about it. I was then FORCED to get psychiatric help for my hypochondriasis. If I refused, the hospital would refuse to treat me. How does that make a person feel when there really IS something wrong? No, I don't care if I have the terminal kind of CMT for myself (I do for my kids/grandkids). I won't have to be treated like a faker ever again. Fortunately, the rest of my doctors ignored the hypochondriasis "diagnosis" because they were all treating visible pathology. It's just that the dots were not all connected. It was my physiatrist that got the ball rolling for me to see the neurologist and finally the geneticist (which every hospital doesn't have). I have a friend that is a Ph.D. geneticist who could see in my dad something "dystrophic" in nature. She also said that the M.D. geneticist that I had was very well respected and came highly recommended.

For CMT there is no cure, but there are treatments. These treatments can drastically alter one's quality of life, which in turn can lengthen ones quantity of life. The treatments are PT/OT/physical aids such as braces, walkers, etc/ and surgery. I haven't read a whole lot about the disease on purpose until I find out what mine is. My letter from the genetic counselor basically said, "We've located the results of your CMT test. Mutations in the DNA were found. Please make an appointment with me to discuss this matter." That's not quite word for word, but pretty darn close. I've never met the man. I had to write in to see what the hold-up was. I gave my blood sample in February or March and the MMD tests had been back for quite awhile. I'm a little upset that my results have probably been sitting around for awhile while I deteriorate exponentially and could have already started treatment.

I was receiving some treatment at the Heart Center at my hospital. But they didn't know what was wrong. Instead of my muscle strength and stamina improving, it was getting worse. Part of my treatment there was the treadmill which is contraindicated in CMT. I took myself off the treadmill because it was too hard to do with floppy legs and I was having to decrease my speed to below warm-up level. I was going to continue at they gym but decided not to because I didn't really know what I could or should do. I couldn't even lift 12lb with both legs! I had a treadmill at home that I couldn't use. So I found a family and payed it forward. My mom had given me the treadmill so I could walk out of the cold in the wintertime. I asked her if she wanted it back and she said to sell it and try to make some money. I couldn't do that since it was given to me, so I payed it forward to a friend of mine where the whole family will be using it. Meanwhile, I had gone to Sears and found a three-in-one machine that is an elliptical machine/stationary bike/recumbent bike. I found one on Amazon.com brand new for $70 cheaper and no delivery fee! This was before I knew I had the mutation. When I looked up the most desirable exercises for people with CMT on the NIH website, I found out that bicycling and swimming were two of the best exercises! So I made the right decision based on what I could do and how I felt. I hope they let me do the elliptical machine because I truly love those machines. They are completely stress free on the joints and get your whole body moving! I tried the one at Sears so I already knew that this model won't aggravate my herniated disc. Some models lean you forward and keep your feet flat at the same time. Those hurt! I need the tilt in the pedal.

I have heard of FALS when I was doing my research. Ed, there is no genetic test for ALS. They haven't gotten that far in the research. Like you said, it is rare; 1 in like 300,000. So think of it this way, if ALS is rare, then FALS is even more rare! Since there is no genetic test there is no reason to get worked up. But I'm preaching to the choir. But, honestly, I can share how you feel. Remember, I thought my dad died of ALS, too. Everyone is doing the ice bucket challenge to raise awareness and money for research so hopefully there will be a genetic test soon. That's great! So IF they develop a test for ALS, it will be up to you to take the test. But knowledge is power. You will be able to plan for it if the test comes out and you have it. Getting your ducks in a row before you die and planning your own funeral (my grandma did this when she was diagnosed with terminal cancer) and paying for it ahead of time can save your family and friends a LOT of stress. They will be able to grieve without worrying what to do with your remains and arranging a funeral and often having to go into debt to bury or cremate you. I know what happened to my mom when my brother died. It was awful! When my grandmother died, the only thing we had to worry about was cleaning out her apartment and grieving because she had everything arranged down to the last little bitty detail.

I know that I have the opportunity to do that for my family AND "if" my other family members have it, we can support and encourage each other to keep pressing forward. I don't know if you have family support and it's none of my business. But I hope you can see things more clearly through my eyes. You know that up until last week I was thinking FALS.

So, even though I'm quite wordy, I hope I've given you something to think about.

September is CMT awareness month. I think it's ironic that almost everyone has heard of ALS, a very rare degenerative disease, yet I have not met a single person, aside from Ph.D. geneticist friend, who's heard of CMT, the MOST COMMON of all neuromuscular degenerative diseases!

I'm going to get one of their T-shirts. It has a picture of a Shark, then says "Oh" and "Marie" and a picture of a Tooth. It's an awesome T-shirt. My dad suffered needlessly both physically, due to lack of PT/OT/braces/and orthopedic surgery to free his joints. Had he been diagnosed, he would most likely be alive today. He's been gone 2 years and 5 months. I keep saying 3 years, but he died in March two years ago. I miss him terribly and feel like filing a malpractice suit against the quack that told him it was the results of smoking as a youth that cause the TIAs that caused his bilateral paralysis! I'm getting really angry so I need to sign off.

Ed, I lost my dad, too. I know how painful it is as his child and the pain he suffered. He died like your dad did or similar, I'm sure. He had his mind until his last breath which was the only one he didn't have to fight for, for several years.

Take care and thanks for sharing your feelings on the matter.
((((HUGS))))

JenniferG
09-07-2014, 07:00 AM
There's so much for you to digest at this moment but you're amazingly clear-headed about it all. I'm so glad to hear there are treatments that will improve your life.

I don't blame you for your anger about your Dad's death. But at least you finally have a diagnosis and you and your kids, if they have it, will be able to get that treatment he was denied.

Just as an aside - regarding ALS, my daughter has joined the ice bucket challenge - yes, it's widely promoted here too - her husband's father died of it only last year.

jrnyc
09-07-2014, 04:03 PM
dear rohr
as i wrote you before, i am glad you finally have a diagnosis,
but so sorry for what it is...
i know you as a strong woman....but i think it takes a while
of being angry, upset, etc...at first...
i never liked the word "processing" in social work...
but i guess that is what i am trying to say...
and those idiot doctors who like to throw the word
"hypochondriac" around are really identifying themselves
as doctors who cannot figure out what is wrong with a patient...
so they blame the patient...
really, if you think about it, it is a medical form of bullying!!
and so cruel...to bully someone who comes to them for help...

but i know it is a waste of time to be angry with them when
the anger can take energy away from gathering one's strength
to deal with the illness....

the internet says the chance of inheriting it for kids is 50%...
that means there is still a 50% chance of NOT inheriting it...

sending you hugs and woofs from me and Spark

Susie*Bee
09-07-2014, 06:57 PM
Rohrer - I was both sorry and relieved to hear of your diagnosis. Now you know what you are dealing with, so at least it is not something in "netherland" anymore. My mother was diagnosed with CMT later in life, and at that time I was 1,000 miles from her and busy raising my children. Of course I was concerned and tried to read about it, but it was in the days before "google" and gosh, we were in the dark ages 25 years ago, weren't we, as far as getting much information! Her main problem was drop-foot. She did tell me she had testing done that showed she did not carry the gene to pass it on to her off-spring, so I think I (and my daughters) are in the clear, although I find it interesting that both my sister and I have hammertoes and extremely high arches which are an indicator that you might be a carrier. Maybe just a coincidence. There was a lady on a here a few years ago that had a daughter with CMT and wrote quite a few times. I think she left after having some difficulties with someone, but you might be able to do a search and find her or at least some of her posts. I know she said that CMT and scoli are often hand in hand (I think I remember that) for some reason.

You have a lot to process, and the whole gamut of emotions to pore through. In my own mind, it would be sort of like going through the grief cycle, as you settle in to accepting this diagnosis. What a crummy thing! I am so sorry, as we have all grown to love you over the time we have known you and some really good things are that you are so knowledgeable, insightful, and an overcomer. You are a strong person and when dealt a bad hand, you will take it and find the good you can make of it. There have been so many people with really rotten situations who have not let their severe health problems keep them down. Here are a couple that come to mind, if you are interested. But I know the main person who needs encouragement right now is YOU -- and you are cared for by all of us, so please know that, and keep us up to date on what you find out and what we need to do to help you out.

http://www.joniandfriends.org/jonis-corner/jonis-bio/

https://www.youtube.com/watch?v=3_PIWSMSEsw
(one of my daughters went to Taylor University with this fellow)

Hugs and prayers, Susie

rohrer01
09-07-2014, 09:13 PM
Thank you all for your very kind comments!
Actually, I'm not digesting or processing or feeling like I have to come to terms with anything. After I started having some severe symptoms, I KNEW that if I didn't find out what it was, I was going to die like my father. I've already gone through that process. Getting a diagnosis makes me feel justified and RELIEVED that I'm not really as CRAZY as people think! I'm just a little crazy. LOL

I'm angry because they gave up on my dad! I understand why my sister gave up. They couldn't diagnose my dad and they kept giving her false diagnoses that she had to "process" and "digest" every time. For her, she didn't have the same outlook as me. BUT, I told her I would press on for all of us!

Susie Bee,
I am really worried that you do have CMT. I would get checked with the DNA test. There is no form that can't be passed on. There is a recessive form where you can be a carrier, there is also an X-linked form. I think I have the autosomal dominant form, which is 50/50.

My grandson has syndactyly and hammer toes and was developing a scoliosis at age 4, which hasn't been followed up on, yet. It wasn't a true scoliosis, yet. You could see where T9 looked like the apex of a convex right curve that was starting. The pediatrician agreed. Like I said also, my daughter has finally agreed to get tested and if positive get her son tested.

As for the ice bucket challenge, I think it's a great idea! I think they ought to have something for CMT, too, since it is the most common neurodegenerative disease. So my kids challenged me to come up with something after I get my T-shirt and spread a challenge on FB. So if you have any ideas, throw them my way and I will do it on FB and see how many of you get it as it goes around. If you get to see it, you'll know who I am! My sister and my son both did the ice bucket. But I think the fact that everyone knows what the rarest neurodegenerative disease is and NOT the most common one is kind of sad and makes me feel sad. The only time I heard about it was when I took a graduate level human genetics class. I may be invited as a "guest speaker" for this class now. My friend, who is a genetics professor is seeing if there is a way to get me in. :) I will have had to have thought up my challenge by then. I may get them all T-shirts if they aren't too expensive.

I'm pretty sure that my daughter, youngest son, and grandson are affected. The son that I believe to be affected is married to the wonderful woman who had surgery to correct her scoliosis. So "if" he tests positive, then they have to make informed decisions about starting a family. I told her at least it's not AIS on BOTH sides. I also said that if I had known and chosen not to have children, she would not have my son as her husband! So we have to be positive, get their testing done and get on with our "family" PT/OT/ and whatever else. I'm the worse off because it advanced really quickly on me before a diagnosis.

I keep thinking in the back of my mind that I'm going to go to see this genetic counselor and he's going to say I don't have CMT. I don't know why. The letter read that he found my results for the CMT test and mutations were found and to make an appointment. I guess that's pretty straight forward. If I can misinterpret a letter like that, I'd have to be pretty stupid. THIS may be the DENIAL phase coming out...NOT. I just want to hear it from his mouth and get going on PT/OT!! I'm getting weaker in the legs as the days go by.

I'll let you all know how it goes Tuesday. Don't forget to help me come up with some ideas. I know because I posted it here, someone else will probably beat me to it. But it won't matter because I'll still participate!

:)

Oh, funny thing is NONE of us have high arches. In fact we either have low arches or are flat-footed. That's one reason I didn't even consider CMT when I looked at the photos.

Susie*Bee
09-08-2014, 03:56 PM
Thanks for your concern. I have the genetic paperwork from my mom somewhere and should hunt it up. I mentioned it to my neurologist that I see for my migraines and he wasn't concerned at all after he checked my leg strength and other things. He just retired so I'll be seeing someone new and mention it again and take these old papers that show the mapping/information with me. As far as the arches go-- I was just reading something that said that a curious thing was that some CMT people do the opposite and are flat-footed, so there you go. My mother didn't develop hers until late 60s or early 70s, so maybe hers was an odd CMT, but it was definitely CMT. She also had Reynaud's syndrome, which I doubt is connected. And a lot of other problems. I have all the official paperwork from a UC (Univ. of CA) place (don't remember off the top of my head which one) and everything involved, as she wanted me to have it all for reference. We have two houses and it happens to be at the other one and I recently had cataract surgery August 27th -- and can't drive as my vision is horrendous ( -12.75 diopters - can't see the eye chart, let alone the BIG "E") in my regular eye and far vision is great in the one that had surgery, but together I am out of balance because it did not work to pop a lens out of my glasses. I was seeing double... Bleh. So depth perception is a bit off. I am having the other one done on Sept. 17 and then another 3-4 weeks before I can have the exam for glasses. This is another lesson in patience. In the meantime I have some cheap Wal-Mart reading glasses that are almost worthless. Things have to be exactly about 12" inches away to be in focus... Small potatoes, right? (smile) Again, thanks for being concerned. I will mention it to whatever new neurologist I pick out of the hat...

And be sure to let us know how it goes tomorrow... thinking of you! And sure do understand your anger/upsetness with your father and sister. That is frustrating when it is out of your hands and you watch helplessly with your loved ones. My heart goes out to you. Just continue to be your own strong advocate, and for others in your family that may need your help. Take care!

rohrer01
09-09-2014, 12:22 AM
Makes me wonder if your mom had the recessive type. That means that ALL of her children would be carriers and none would be affected unless your father also had the recessive type. The odds of that are phenomenally low.

My daughter's feet are so flat that there isn't a part of her foot except maybe under her toes that doesn't touch the ground. My grandson is slightly flat-footed but not so much that he's out of "normal" range.

I wish you well healing and a good outcome on your next eye surgery! My friend didn't even need glasses when she had hers done. :-)

rohrer01
09-18-2014, 01:32 AM
Susie Bee,
I found out some information about the recessive CMT. You CAN have a mild form of the disease with only ONE allele IF you have an abnormal EMG. So if you are having symptoms, you would need to see a neurologist and him/her do an EMG.

My EMG was normal, of course. But my symptoms are not mild, either.

UPDATE: I saw the neurologist yesterday. He's completely baffled and sending me on to Madison for more extensive genetic testing. Meanwhile, my good friend that happens to be a Ph.D. geneticist is coming to have lunch with me and go over some new information she has found and shoot some ideas around. I asked my neurologist if he wanted her info and ideas and he gave an overwhelmingly positive response! Since my friend teaches AND does research, she HAS to keep up on all the latest in genetic research. She is a highly intelligent and wonderful person, especially to take time out to come to my town and help me. She was my mentor when I did my undergraduate research, but that was 11 years ago! Many have come and gone and we have seemed to remain in touch. She's a very special lady!

Meanwhile, enough about my friend. My neurologist and my geneticist are going to see if I qualify for the rare genetic disorders study being done by the NIH. At first they were against the idea. Now THEY are the ones bringing it up. If we can't figure this out for me, then maybe for my kids and grandkids (a nurse told me that). They know now that it's a race against the clock. They see it clearly as new symptoms crop up faster than I can report them.

Susie*Bee
11-13-2014, 12:17 PM
Has anyone heard from Rohrer lately? I am concerned. As far as my CMT, I have definitely been confirmed with it through my mother's genetic testing, my bloodwork, and EMGs, etc., with my new neurologist (who immediately changed from my migraines to that...) He pointed out several places where I have neuropathies (wasting of muscle mass) so no, I don't have dainty feet and hands, I have lack of muscle there. Hubby and I always thought the former. Tee hee. Anyone remember threads I started or places I posted about horrendous muscle cramps? Those are part and parcel of CMT. I would get them in every leg and foot muscle, all up and down, at the same time and think I would die. I have been taking 3 valium a day to prevent them, although I still get them in my feet almost every night. I have extremely high arches and hammer toes. Also I have some degree of drop-foot. I also have optic nerve problems, and a rare eye condition called epithelial basement membrane corneal dystrophy that seems to be tied in also. Just a number of things. When I went back to a follow up visit with my new neurologist, he hadn't finished going over things but thinks I have CMT 2 of some type. It probably doesn't matter if I pay $3000 for the DNA testing as it won't really do anything. BTW-- CMT doesn't normally shorten your lifespan. And my brother and sister have have the high arches and hammer toes and some degree of scoliosis and other problems. Just not as severe.

It is also called hereditary motor sensory peripheral neuropathy. What sets it apart from something like muscular dystrophy (although it is included as a subset of that) is that it is nerve generated -- the nerve is faulty and doesn't send the signal to the muscle, so the muscle begins to atrophy. From the EMGs (arms,hands,legs,feet,neck, part of back) we found that with me, it was the axon that is not functioning correctly. Picture an electrical wire... the wire itself is the axon, and the outside protective coating is the myelin sheath. With 2/3s of the CMT cases, it's the outside part that is dysfunctional. That is what they did the DNA testing for with my mother, so that is why it was negative. They didn't test for the axon.

My main concern, of course, is what I may have passed on to my children and grandchildren. 50% chance for my children. There is nothing that can change that so there is nothing to do anyway. People can have mild degrees of CMT and some can have strong ones. I have done fine for the most part, but have some problems that are worsening. Had to have really high arch supports as an adolescent... my horrendous eyesight is probably due to that (distinguish 2 fingers at 48" ever since high school), correctable with glasses, but I just had cataract surgery so now I can see! Deafness in one ear possibly due to that (nerve deterioration), etc. I always played sports and never had too much problem except didn't like climbing rocks or things like that where your feet had to work hard. Anyway, that is my CMT update. When I find out more info I may post it later.

Again, I am concerned about Rohrer. I PMd her awhile ago.

PS- I can't check with other family about this as my mother was an only child and her mother was an only child... I did check with her father's family and there is nothing there.

Susie*Bee
11-15-2014, 12:14 PM
Here are what parts of my EMG report said if anyone is interested:

-Right and left peroneal and tibial motor nerve compound muscle action potentials were severely reduced. Conduction velocities were mildly slowed. Distal latencies were normal as were F-latencies except for the left peroneal F-latency which was absent.
-Needle exam studies of selected muscles of the left arm and leg, including cervical and lumbosacral paraspinal muscles, revealed slight increased duration of motor units and decreased interference pattern in the leg diffusely distally.

Diagnostic interpretation: this is an abnormal study revealing the presence of a chronic axonal sensory motor neuropathy involving the legs.

I am still really concerned about Rohrer as she has not posted for about 2 months and I PMd her at least a month ago. Has anyone heard from her?

titaniumed
11-16-2014, 11:42 AM
Susie Bee, you should start your own CMT thread....

Rohrer was going to give me her e-mail address back in Sept but never did.....since Iím not especially fond of the PM system here...If I look, I always respond with ďplease e-mail me at titaniumed@hotmail.comĒ

Some forms of communication are complicated....

She might have computer problems.....

Deep breaths....

Ed

LindaRacine
11-16-2014, 02:46 PM
I just sent an email to her and will report back if I hear anything.

--Linda

Susie*Bee
11-16-2014, 08:39 PM
Thanks for the suggestion but I didn't start a new one because Rohrer set this up (see bold) for others to use also in the initial post. I just put part of that post here so you can see.

Yes, hopefully she will respond to Linda's email -- thank you so much Linda. Ed-- you may get a bunch of emails now. Tee hee. You're such a great guy. Thanks so much for your kindness, as always. You are hopefully correct about Rohrer and all is ok.

Everyone else -- I hope I haven't bored you to death with information about my CMT. My apologies if so. It just means my nerves are shot. (ha ha...) Not really completely, just especially left leg.



Well, folks, that is my diagnosis after my DNA testing. I feel it belongs here because scoliosis is one symptom of this disease. So I will use this thread to talk about CMT even though this is a scoliosis forum. There are those of us that have special issues relating to a CMT diagnosis that may have a direct impact on our scoliosis from pain to severity to what kinds of exercises to do and NOT to do (walking is a big NO NO believe it or not) to whether or not to have it surgically corrected.

I don't know what kind of CMT I have, yet. My appointment is next week. But if there are others out there suffering from the same thing, feel free to talk here.

The incidence of this disease is 1 in 2,500 people. It sounds like a long shot, but this is actually the most common neuromuscular disease out there.


I will post more as I know more. I will still keep my timeline thread (I have some imaging CDs) alive during this. That thread has proven invaluable to me. But this one may prove invaluable to other CMT sufferers.

You all have a great day!
Rohrer01

jrnyc
11-16-2014, 10:07 PM
i e mailed rohr as well...
haven't heard back yet...

last time i got private e mail from rohr was October 26th.
towards the end of the e mail she added....

......Sorry I haven't been on the forum. There's just too much on my mind and I don' feel like I have anything to give right now....."


jess....and Sparky

jrnyc
12-11-2014, 03:30 PM
heard from rohrer by e mail...
she asked me to tell people that she is doing OK, still has
some health issues....has been doing construction work
on her house, and also making it more easily accessible...
she is weaning off oxy meds and now on big doses of
gabapentin...she said the medication did not help her
before, but doctor put her on huge dose and it helps her
now...she had some intestinal issues that seem to be
resolving.
and she said to tell forum folks who might be concerned about
her that if she is not on forum, she is "just busy"

that is best i can sum up what she wrote to me...

best to all...
jess....and Sparky

Susie*Bee
12-11-2014, 03:56 PM
Thanks so much!

jrnyc
12-11-2014, 05:27 PM
you are most welcome, Susie Bee...

hugs from cold and snowy northeast...
jess...and (sitting by heater) little Sparky

Pooka1
12-11-2014, 05:34 PM
Thanks so much, Jess. I miss rohrer.

Hugs to the baby Boy. :-)

jrnyc
12-11-2014, 06:42 PM
will drop an e mail to rohrer and let her know....

thanks...Sparky seems to be doing OK...
he can't wait for weather to dry up after 3 straight days
of no walks due to messy weather.

jess....and Sparky

jrnyc
01-15-2015, 01:43 AM
hi all...
just got e mail from rohrer yesterday, Wed, January 14th...
she asked me to let forum folks know she will be back to
writing here when she can...
here is some of what she wrote to me..

Jess,
Thanks for updating folks on the forum for me. Actually, my health isn't doing all that great. I mean I'm as "healthy" as I was. But I'm just not the same since I took that fall several months ago. I really don't know how long I was unconscious for. I know how my husband is. He is very slow to go and check anything. Even at that, he didn't call the ambulance like he should have. Regardless, there's probably nothing that they could do to have prevented my memory problems and typing problems. They are gradually getting better, but I forgot how to spell simple words and my spell check would underline them for me and I'd end up having to look them up. But don't EVER underestimate closed head injuries. The consequences can last a LONG time even for something that seemed like a simple concussion.


My muscles gradually continue to deteriorate. I can barely last at the grocery store and only because I have a cart to hang on to. Even at that, I walk funny. People have turned out to be so kind. They smile more and hold the door in the inclement weather to their own misery. I wish everyone would smile more and do those little things for each other anyway! I can NOT shop at a large store. I have to ride the funny carts. My grandson LOVES it. He steers them for me. I'm so glad to get to see him and watch him again.


It's been nice hearing from you. Tell the friends on the forum I'll try to get back soon!

JenniferG
01-16-2015, 04:09 AM
Oh dear, that's not such good news. I had wondered where Rohrer had got to. I hope the memory problems resolve quickly. As if she needed another health problem. She sounds in good spirits despite everything. <thumbs up>

Susie*Bee
01-16-2015, 09:57 AM
No, it's not such good news as what we would have wanted, but it is still news, so we are thankful for that, Jess. You are right, Jennifer, about the good spirits. What a dear soul. Please let her she's in my thoughts and prayers.

jrnyc
01-16-2015, 02:12 PM
will send off a note to rohr as soon as i get a chance
and let her know folks are thinking of her...
not sure how often she is on her computer, but will send out email
today

jess...and Sparky

Pooka1
01-16-2015, 07:52 PM
Oh Jess could you please give her my regards and tell her I miss her? I do think about her and wish she was posting.

Thanks so much.

rohrer01
01-26-2015, 01:11 AM
I'm back and you guys are going to make me cry! It's so nice to have a community of strangers that are friends and care about what I'm going through.

I'm pretty sure that I was told that I don't have CMT. BUT, with the way my genetic counselor worded his e-mail to me, he led me to believe that this is what it was. I'm glad for Susie Bee that I started this thread. This can be in honor of her since now she knows WHY she's having the symptoms she is having. It helped her and she also knows where her scoliosis came from and that it's not idiopathic.

I do believe I have some kind of nerve degeneration. I have TERRIBLE nerve pain to put it mildly. I don't think my doctor can go up on the gabapentin. I'm taking 16,000mg a day. That's 400mg four times a day.

My eyes are being affected in that if I read or have to look at anything too long they fatigue and I get such blurred and double vision that I can't read or see the person or object clearly.

I have procrastinated severely about getting my NIH papers to my geneticist. I HAVE to get that out tomorrow. The trouble is, now I can't find them! They were on my night stand. I shredded all the referral papers for the second opinion doctor. My genetic counselor said there was no point in a second opinion. They really want to try for the NIH study. I hope I qualify and I hope I didn't accidentally shred them with my other papers! I'm supposed to give my genetic findings to my sister and my geneticist friend!

Thank you ALL for the well wishes. I has so much on my plate. I had to come up with some remodelling plans, find a contractor (not as easy as I thought as they are all too busy!), draw up plans or explain what I want done, get a construction loan from the bank, go to my endless doctor's appointments, buy a special window and paint (6 layers needed for outside exposure is what contractor wanted) stain the inside of the window and figure out which parts of the opening needed stain or paint. It really was confusing because of the window type I bought! Grrr

I fell in September as you all know. I'm still struggling with finding the right word to say in conversations. I think we all have that problem to a degree, but mine was really bad. My eyes were affected. But I'm recovering as you can see! But I'm still having a little trouble typing. It could be the disease or the fall, I don't know which.

So my assignment for the morning is to get on the NIH stuff, pronto! Well I have laundry to do, too! :-)

I missed you all too!
(((HUGS))) to all of you!
Rohrer01

LindaRacine
01-26-2015, 12:18 PM
Hi...

It's good to hear from you. I'm really sorry that things have gotten so overwhelming. Take it one thing at a time, and be happy with each goal. Hope today is the day you find the papers.

Thanks for the update.

--Linda

Pooka1
01-26-2015, 06:55 PM
Rohrer really nice hearing from you! Wow you are dealing with so much. Your spirits seem to be high.

I wish you well.

rohrer01
01-27-2015, 01:54 AM
Thank you Linda and Sharon! Jess, I forgot to thank you for updating everyone for me and you, too, Linda! I will get my e-mail to certain people. I need people to talk to. I got royally bashed over Thanksgiving weekend by my sister. I didn't even talk about my scoliosis. I complained about a bladder infection that I had. ANY medical topic is sending her over the edge. I fell asleep for a few hours and was accused of overdosing on my pain meds or else my doctor was prescribing too much. The truth was, I stayed up all night to get a couple more layers of paint on that window project. I got done at 5:30am and we had to get up at 6:00am! I was literally exhausted. It was a horrible weekend. I should have stayed home since half the family left after Thanksgiving anyway. We went down the following Friday to see my sister since she was staying the whole weekend. I am no longer "allowed" to talk about ANY medical problem with my family. Of course I can talk to my husband. But I'm sure he gets tire of the complaining, too. It's nice to have people that will listen!

No, I didn't even look for the papers. My lady friend came to visit and I stayed in bed all day as I usually do when she comes to visit. :-( The rest is nice, though. :-)

I hope you all have a good day tomorrow!

(((HUGS)))