The results are in
AnonymousMarch 17, 2010 at 3:23 pm
My niece called me just a bit ago and told me that her Mom did in fact test positive for CMT.
She said I am to go to my Dr for my own test now.
I hesitantly sent her a text message asking her to please tell me the gene mutation and sub type…I said please and for Connor’s sake.
Her reply what that ‘ it is what it is and that I dont have CIDP and her results have nothing to do with Connor and also that I need to quit going to see quacks”. I said I was told to ask her for that info and she said “stop going to quacks, I dont have that info, my Dr does”. Then later says she cant believe they never tested me for it and that I should call my lawyer.
I just knew….I knew. I feel so sick…all this time I could have gotten him more therapy or the braces and I let it go thinking it would get better with what therapy we did.
My Dr isnt in today, i wish he was….I am a mess and I dont know how I am gonna get thru this day. My sister wont even try to get the info .
I gotta stop crying and get myself together…I dont want Connor to know anything ! I called his Dr to explain …got the nurses line and told them I need the best pediatric nuero in the state. I dont know if my test would mean, yes he has it ? Would it ?
I dont expect anything good. Oh dear Lord, I beg, PLEASE DONT GIVE THIS TO MY BABY BOY.
AnonymousMarch 17, 2010 at 3:46 pm
You, your family, and especially Connor are in my prayers. Your sister is clearly hurting, too, and as frustrating as she can be, try to understand she is confused with all the information she is having to deal with, too. Listen to your doctor – it sounds like Connor’s nurses could provide support. Just remember – your love for Connor outweighs everything. Hold on.
AnonymousMarch 17, 2010 at 7:01 pm
I will be keeping you and your son in my prayers. If there is any way, you should really try to see Dr. Shy in Detroit for both you and your son. He is an expert with CMT. Another suggestion, and I know you don’t want to hear it, but you really need to get a good pair of AFOs and start wearing them. I have been told that if you wear the AFOs, it really helps to prevent some of the contractures and deformities that you can get from CMT. They keep your legs and feet in the correct position. They also help tremendously with the pain. Plus, they will make your quality of life so much better.
Just because you and your sister may have CMT, your son has a chance of not having it, or if he does, it may not be the same as you. No one, even in the same family, are the same.
My daughter and I are traveling to Detroit next week to see Dr. Shy for the second time. When we were there last year, we met a father and son. The father showed signs of CMT, but the son had not yet. But Dr. Shy likes to see parents and their children together on these visits so he can continue to monitor any changes and be proactive. He tracks patients from all over the world which helps them in their research.
I wish you the best and hope you get the answers you are looking for. I know first hand how this is for you. We have been going through it for the past four years. As a mother, I know how you feel about your son.
AnonymousMarch 17, 2010 at 7:05 pm
You and your family are in my prayers. Stacey I truely hope that you or conner do not have CMT but if you do you will get through this. we are all here for you and you are a strong woman, you can do this. YOu are a mom and your boy means everything to you and I know mom’s will do what they have to do for their kids. so I have faith in you that you will be strong enough for conner.
I agree with Carla you need the AFO’s if you have CMT. Carla knows what your going through as she and her daughter are going through it too.
Thoughts and prayers with you and a big hug
Rhonda (Ryan;s mom)
March 17, 2010 at 7:47 pm
Try not to waste your precious energy worrying about what if. Just try to stay focused on you and Connor and let your sister deal with her issue. She obviously is going through issues herself and probably is thinking the same things as you regarding her children.
I just called that nice lady I told you about a long time ago when we were dx w/cmt. I left a message with her if it would be ok to pass her number to you if you would like to use it at some time.
We don’t yet know if Connor has it, but on the positive side, it is much easier to get a dx and help for. You can go through the muscular dystrophy association. You can call them and there are cmt specialized people at their branches (it was that way here anyway) They can suggest a neuro that they work with and who has experience. I DO know what you are feeling as that was our 2nd dx for about 2 weeks till gbs became the new dx. If you would like to talk you can call me I will pm you my # and I can tell you what I learned in the 2 weeks if you would like.
March 17, 2010 at 8:36 pm
In spite of the fact that you’re in such emotional turmoil, Stacey, I like the fact that you are making all the right moves and setting up appointments for the testing.
The genetics for CMT are complex and confusing so don’t try to figure anything out until the tests are in. It might not be as bad a you think.
Whatever the outcome I know you will deal well with it and Connor is lucky to have a caring and sensible Mom like you.
There seems to be a lot of information from people on this site and this is a concerned and helpful group of people who want to watch out for you and your son.
I know there will be lots of prayers headed your way from me and others.
AnonymousMarch 17, 2010 at 9:22 pm
Thank you all for your support. I REALLY need all that I can get right now b/c I am an emotional wreck.
My sister texted me that when she gets to KU she will let me know. IF it were me, I would have called and got her the info for her family…but, I know, we are not the same.
I sent my med recs with her daughter to help her but she wont do anything for me. I’ll never understand the person that she is. I am surprised I got what info I did…even tho she was half ugly about it. Her story is long and complicated…I dont wish this on her…I never would.
I will take one day at a time and one Dr at a time. My Dr wasnt in this afternoon so I have to wait till morning. I wonder if Connor also needs tested. I have alot of questions. I also got two pediatric neuros to call in the morning that are at our childrens hosp..but I will call until I can find the best.
You all know, my concern isnt me…I dont care what happens to me, it’s my boy that is my first concern.
I do know I need to be healthy for him and I know that…
but, as all mothers here…we’d give our lives for our children and I would trade my soul for him to be healthy.
I’ll post when I know more….thank you all from the bottom of my heart. This is the place I found when I was first diagnosed with CIDP..feeling all alone in the world. I know I’m not alone….even with a likely new diagnosis.
AnonymousMarch 17, 2010 at 9:26 pm
test for you….. Test for him.
Remember, Just because she has it, does NOT mean you have it, and it does not mean that Connor has it.
Check out some websites and read about CMT. I met some great folks at CMT.org
Don’t stress, don’t bum out.
It sounds like your sister and niece are a little rough around the edges with your relationship(s). Remember, that is their problem and not yours. You can only take care of what you can take care of. You are a wonderful person with a heart of gold. Don’t let anyone else tarnish YOU!!!
Just like the hassle with your CIDP diagnosis, there will be a wait while the test’s get processed and the results come back. If you have it, and if Connor has it, you deal with it. No blame. You certainly didn’t try to give it to him. The best thing you can do is show him how to live with it. Because, just like CIDP, you can live with CMT.
Let me know how I can help any or all of you guys. I know I am far away, but my heart is close !!
March 17, 2010 at 10:31 pm
Stacey, I agree with (but won’t take time to repeat) all of our friend’s posting above. Excuse me for the terseness of this reply, but I feel it’s more important to go hit my knees praying for you, Connor, and your sister.
AnonymousMarch 18, 2010 at 7:41 am
I kind of agree that your doctors have done you no justice by not considering CMT as a diagnosis for you. When Selah was diagnosed, I personally looked thorugh my family for generations and my husbands family to see if there was any walking problems to rule out CMT and it really helped. My husbands family is kind of a mystery and they have a small family, which does not help as each person had like one child so it is harder to examine. Dr. Mendell said that he did not think it was CMT and that we could rule it out if ivig did help her and it did. Someone mentioned CMT having a connection to Muscular Dystrophy? There is doctor who works with Mendell at Nationwide Children’s in Columbus, Ohio who specializes in CMT. I have always remembered she is there but I cannot remember her name. I am sure it says on the website. Please keep us posted. We have been and are praying for you.
March 18, 2010 at 3:25 pm
I got a call back from the lady I mentioned to you. She is “THE” lady for CMT. Her son has it and has had it since I think 4. Anyway, she has started foundations, research and is involved in all sorts of stuff. She is on the cmt found board and in constant contact w/docs. If you don’t want to talk, she gave me face book info, and some other info. I will pm you her home phone. Please don’t give it to anyone. She did give me permission to give it to you though. She did mention that there are lots of things very close on the horizon especially for a particular type. I think she said cmt1a or a1, you will have to ask her. She also said that studies and rersearch show high vit. c consumption. Don’t know how much, you will have to ask her. She can tell you anything you want to know. She helpede me so much when I was given the news of cmt for us. She travels to chicago and Detroit frequently for meetings about cmt as well, she said that the cmt clinic “capitol” if you will, my word, can’t remember what she called it, where all the cmt specialists are is in Detroit. Keep us posted. Which sister is it, P the one I met at the symposium or the one that lives by me?
here is some info
her email and phone # I will pm, but here is the other info.
Facebook stuff….cmta support in actiongroup network star program
a regular type of site like ours is….cmt us
AnonymousMarch 18, 2010 at 3:57 pm
My prayers are with you and Connor. I know you are completely stressed out right now. You have already received some good advise. I just want to say that you have been through a lot and you will get through this too. Just take a deep breath, say a prayer, and press on.
AnonymousMarch 18, 2010 at 4:16 pm
You are all such wonderful, super people.
I have had quite the day. I got a call back from my Uncle..my dad’s brother. I remembered that at my Mom’s funeral, he walked funny and his daughter told me that he had a nueropathy but with it being Mom’s funeral, I was preoccupied. He left a message saying that yes, he has nueropathy, a genetic one and his daughter, my age, has it, too. He said he’d been to the top Dr at Mayo and nothing you can do but exercise and take care of yourself.
This morning…I talked to my Dr and he said he’d have to do the test that would test like 30 different genes. We would not test Connor until we know what gene to test b/c maybe we wouldnt have to.
I called my insurance and Athena labs is out of network. It will cost me
3300.00 bucks within the first 20 days if I get on their patient plan b/c my insurance is 2 grand for the deductible and then anything over allowed and blah blah blah…b/c they are testing the big daddy of tests, it is 17 grand.
Yes, it’s better than full price…but come on !
So…here is where I am at. My niece is pressuring her mother for details..specifics. If I can find WHAT gene to test for…I wont have to have the “big daddy” test run. At least, I dont think. My Dr said if I was negative for a genetic kind, we wouldnt test Connor. If I was positive, we’d test that certain gene. So, why would this be different ?
Getting back to my uncle…I plan to talk to him tonite and see if he can give me specifics..if he cant…b/c he is elderly, I’ll try my cousin, his daughter.
I have a feeling I am right about it starting with my Granny, to my Dad, to his daughters, now to my son.
Dawn, THANK YOU for that info.. I will get into that tonite b/c I’m at work and heading out…THANK YOU TONS ! and, it’s not Penny..not the one you met.
i gotta get…
you are all so awesome…thank you for everything. Thank you for the compliments and positive thoughts and prayers…everything.
One day at a time.
March 18, 2010 at 4:55 pm
I am not exactly sure what you are trying to say, but…I think the doc might mean if you test neg for genetic, he is saying you do not have a heriditary kind, but maybe a spontaneous mutation which sounds like he would be assuming it could not be inherited by Connor because it was spontaeous. Me personally, I would test anyway. Who is to say a spontaneous mutation could not be passed down and become part of the dna, if you think about it, that is how things start, from the first person. I wouldn’t take any chances. Is this the same doc you have been going to? I totally get it about the $, last year we spent almost 28K. This year will be more because the supplements are all out of pocket and who knows how long it will take to get rid of this leaky gut crap! But we have to do it. Heck I would even hang out at a corner if I had to. 😀 Might have to get some lipo first if I want to make any money :p Just trying to be silly and give you a chuckle! (since we have met, the visual of me on a corner must be hilarious!!!)
AnonymousMarch 18, 2010 at 7:14 pm
It sounds like if it is in the family that it would be the hereditary type. If it were a mutation, there is still a 50/50 chance of being passed down to a child. We met with the genetic counselor in Detroit. If my daughter has it, then it is a mutation. We do not have family history. The CMT tests come back negative for us, because her type of mutation has not been identified. If you see Dr. Shy in Detroit, he can do the CMT testing through Athena. We were told that people whose insurance doesn’t pay, Anthena will only charge you a $250 maximum fee. Athena sends a representative to your house to draw the blood and then it is shipped to Athena. I don’t know for sure if you have to go through Wayne State University only to do this though. We are going to talk to Dr. Shy about doing the tests that have become available since we had it done 4 years ago. They are identifying new types and mutations all the time. It takes about 3 months to get in to see Dr. Shy. If you do not have a specific time you need to do it, sometimes they can get you in early. When you go there, you spend an entire day. From 8:00 a.m. to 5:00 p.m. They send you to all types of different specialists and also perform testing. If your insurance does not cover Dr. Shy and Wayne State, they do not make you pay anything. The only thing that would cost is specific testing like an EMG or bloodwork. It really is an amazing place and I highly recommend making the trip.
March 18, 2010 at 10:14 pm
I remember someone else saying that about the 250$ Another back up would be the mda, they will pick up ALL expenses that you pay out of pocket provided it is cmt. Cmt is considered md. That is what the mda chapter in Chicago told us.
AnonymousMarch 19, 2010 at 12:57 am
Is it possible for you to put your thoughts in writing to send to your sister?
It sounds like she is also having a rough time and might need the support as well.
Sometimes we need to take a step or two backwards to try to move forward.
I have had family problems as well and yes everyone was very stubborn but it can be amazing to let your family know that blood is thicker than water and that both of you are having some scary health issues and that you need to pull together in order to help each other. (Just a thought)
You are a strong woman and a great mom, take it one moment at a time if you have to and remember we are only a click away to offer our love, prayers and support.
Take care and give your boy a big hug from all of us! 😉
Rhonda from Canada
AnonymousMarch 19, 2010 at 3:56 pm
Here is where I am at today…and boy, am I up and down and all over the place.
I talked to my Uncle last night. He is 79 years old. He told me he was diagnosed years ago with “nueropathy”. He even saw a Dr in the same group as mine but it’s been two years since he was seen. He had never heard the word “CIDP” or CMT and never had a spinal tap and doesnt remember lots of blood being taken. He went to Mayo a year ago with his daughter b/c she had bladder cancer and he had lung cancer. They were both diagnosed in the same week.
He also saw the top neuro named Mike Harper Jr. Anyone heard of him ?
He said that his daughters nueropathy is much worse and more progressive but that she still works. His symptoms are VERY similiar to mine but he has no hand involvement and niether does my cousin. He said he has high arches, like my sister, and his daughter has flat feet..like me and Connor. He can walk, has afo’s and doesnt wear them and cant walk barefoot b/c it hurts too much. He cant spread his toes but can move them and it’s hit and miss where he can feel like the pin pokes. He first noticed it b/c his feet felt like his socks were too tight.
He thinks his Mom, my Granny- had problems with her feet but never saw a Dr and also believes my Dad had probs but never diagnosed b/c he died so young.
He said my cousin really wants to talk to me and will call me. He wouldnt offer her phone number..not sure why. He told me he didnt understand why I would want to take such an exepensive test when there is nothing I can do about it anyway. He is almost 80 yrs old now and I understand what he means.
I am going to wait to see if my cousin calls me and hope that b/c she is my age, will know more about what her nueropathy is called. She’s been thru alot with her cancer, as well.
In the meantime, my niece continues to nag my sister who told her last night that she had it all written down and would tell her today. Guess what…she still wont tell !
My hubby and I talked about this briefly and for today…b/c I am one day at a time…I am delaying the expensive test. I dont want to take that much out of my savings and with his surgeries, I didnt have a paycheck for a month and he only got partially paid. I dont want to spend that money if I dont HAVE to. I’m extremely cheap and I save that money for VACATIONS and FUN things.:rolleyes: I will pray that my sister will tell me the specifics and then my Dr can test just for that mutation rather than 30 or more and that will save LOTS of money.
If my sister finds out that this is why I want the info…to save myself money, she will definitely NOT tell. She wont tell me anything to make MY life easier, I had just hoped she would for Connor’s sake. But, I was wrong.
My niece is hounding her saying that she wants to know but we’ll see. I wish I could explain more what happened with my sister but I dont understand alot of it myself. It’s a shame really.
So…back to the story. Connor has an appt with a ped neuro in July and we are on a cancel list. I will be working on finding the best ped neuro in Omaha or Nebraska in the meantime and hope for results. We’ll keep that appt and have him checked again…but I dont know if I am going to have the full test.
I was told I have to pay 3,300. Never heard about the 250. The lady was very adamant.
I will check the MD society and the contact that Dawn gave. We are also working with Connor daily to stretch, walk on his heels across the room, catch a ball on one foot, hop, skip, etc. He enjoys it.
Tomorrow I could be changing my story…but for now, we are waiting on the test b/c of the cost. If I am positive, what can I do besides worry ?
thank you for the continued prayers and support. I hate the thought of not being a part of this special group anymore but you will all always be a part of me. You’ve been my life line for 3 and 1/2 yrs.
have a good weekend,
AnonymousMarch 19, 2010 at 7:32 pm
only to get that dratted ‘inconclusive’ word stuck in there. That it mite be ‘family related’ doesn’t necessarily mean that it is CMT tho. There is a huge menu of neuropathies, some inherited, others not.
I am truly glad that you make time with your family to do ‘fun’ things! Giggleing, laughing, smiling, relaxing and feeling at peace with yourself, no matter how brief can and DO helps us heal in our minds. THAT kind of healing is worth more than any drugs on earth! Sometimes we get soo serious and stuck in hurt mode that we forget simple pleasures. We need them more now than we did before, because we truly appreciate them more now.
OT, but funny? have you seen the Geico commercial w/Warren Buffet as a rock singer? It’s a little smile for you along the way… 😀
BTW…WALK BAREFOOT? Not done that since onset! Ouchie…
Keep at the research, you will get your answers and maybe, I hope and pray, some relief and soon!
AnonymousMarch 19, 2010 at 11:22 pm
My sister finally told my niece.
It’s CMT 1a p something 22 p, I think…I wrote it down and have it but it’s not the x gene I thought that’s passed down Mom to son, dad to daughter…it’s the most common type that is 50/50 passed down to all children.
I did talk to the MDA and she told me that they will cover out of pocket expense after insurance other than the blood test but that I can apply for help.
She is sending me a packet so I can get my Dr to indicate this DX on it and get me into the Nebraska medical center.
My Dr told me there would be no treatment and not to expect anything other than prognosis. By going thru the MDA, Connor and I both can get in to those Dr’s much faster. I talked to a very nice lady that helped me remember that things wont happen overnight…as far as answers.
I still dont know where I’m at with testing, but, my Dr said only Connor would need tested now.
And, for that one mutation.
Am gonna let this all sink in and think over the weekend, still hoping to hear from my cousin.
My Dr said he is 100 percent sure, without a test, that I do NOT have CIDP but I have CMT now b/c of my sisters result.
I will go to the new Dr’s to confirm…and follow through.
Thank you all…so very, very much. I am in no way able to leave this site b/c you have become such a part of my life that I dont want to lose.
blessings to all,
AnonymousMarch 20, 2010 at 4:32 am
I cannot think of a thing to say except that I am sorry your path took such a long winding road before reaching a diagnosis. And I am sorry that your relationship with your sister is strained to the point where you are not able to help each other and comfort each other. I am sad that you have CMT, not that it’s any worse or better than CIDP, but that you are now going to be watching Connor for troubles and will be worrying about him more than yourself now.
Please remember to take some time for yourself, take a step back and regroup. Decide what is important and let the rest go. I think of you often and hope, as I do for everyone here, that we find peace in our lives despite, or because of, our challenges. I don’t know your sister but I can tell from your attitude that you will face this new challenge head on and come out the better for it down the road. I have always admired your persistence and determination Stacey, you are one of those people who will always survive and come out on top. 🙂
AnonymousMarch 20, 2010 at 12:44 pm
Hi stacey, I have been following you and your story and I just wanted to tell
you I’m praying for you and your son. I can’t imagine what you are going
through right now but as a mother I know how hard it is to watch your kids
suffer. It is important to take care of yourself though, sometimes when I face hard times I always remember if I don’t take care of myself first, then I
will be of no help to the ones I need to care for the most. It’s not being self
fish, its being honest. My prayers are with you all during this difficult time, I
will pray for you and your son to help you through this.
March 20, 2010 at 1:13 pm
Did you speak to Elizaberth yet? There are things you can do, the doc is wrong. There are surgeries you can get to release the tendons, I think the type you mentioned IS the type Elizabeth mentioned that research is heavily being done on. CALL her, mention my neame, she is expecting you and will call back ASAP if she is not home.
AnonymousMarch 21, 2010 at 4:16 pm
Dawn, I havent called her yet. I want to be able to be sure I dont “break” when I call. I plan to call her later today.
And, I have to do it when Connor isnt listening in. THANK YOU SO MUCH, Dawn…you have always helped me…thank you for what you do, for me, for all of us.
It’s cmt 1a pmp22. It’s the demyelinating kind, I guess.
I look forward to the info packet from the MDA to get into a diff doctor asap.
I’ll keep you updated. I’m going to look at the CMT forum here one of these days..I’m just not ready to say goodbye to all of you. THIS is my home…cidp or not.
I am on facebook and hope to find some cmt info with that, also. If I can, anyway.
In the meantime, the fight is on, my friends…I promise!
AnonymousMarch 21, 2010 at 5:24 pm
I haven’t been able to respond to your posts because it makes me bring up thoughts and those DOUBTS that I need to keep buried. I was told by the last neurologist I saw about 4 or 5 years ago that I have CIDP and CMT. I had specialized bloodwork done for CMT and it showed nothing but Dr. said some forms are so rare they don’t show. I almost lost my mind when this neuro said two chronic syndromes. I don’t believe that I have CMT so I just tuck it deep inside as a maybe thing because only time will tell.
I don’t think any of us would come right out and tell you to leave this forum so as long as administrators say nothing, stay with us. You might be able to help others who are misdiagnosed.
Consider going to the symposium one last time so we can give you in person hugs.
AnonymousMarch 21, 2010 at 10:30 pm
PLEASE, PLEASE, PLEASE….
1.) The Doc should be shot in the head for saying that you have CMT without a test.
2.) You should not need the granddaddy genetic test because they know exactly where CMT is located. Even I know that and I am no neuro.
3.) Maybe you do, and maybe you don’t, let the test decide. Just like before when you went through the CIDP diagnosis routine. There are a ton of ups and downs.
4.) I was diagnosed with CMT (incorrectly) before I got a CIDP diagnosis (correctly?) The treatment isn’t a whole lot different. neurontin for nerve pains, maybe some other meds for mood/pain. Nothing for cure because it is genetic. Anti-inflammatories and steroids, and so on.
5.) Do not accept your Dr. word on this diagnosis. I think you have more options for treatment and recovery with CIDP. I mean you can live with both, and many people do live with both. Just don’t accept your Dr’s word without good hard proof.
6.) We always say around here. Intelligent patients make the Dr.s perform better. Don’t let your Doc off the hook. Make him PROVE CMT.
You know I care about you and only want the best. Be skeptical and be correct.
AnonymousMarch 21, 2010 at 10:55 pm
Just wanted to let you know i’ve been following your posts here and on facebook. You and your family continue to be in my prayers. This is something you will eventually conquer. Remember, you are always family to us and we will all be there to give moral support. And we know if we need a good laugh Dawn will be there to provide it..She can always put a smile on our face.
Hang in there and remember you have friends that care.
Love ya much,
AnonymousMarch 22, 2010 at 9:46 am
I am going to go thru the MDA assoc here b/c they can get me into a different Dr much faster than I can set the appt on my own. I DONT plan to see my Dr again. I’m am so done with him.
Whether he is right that I have this without a test, I dunno. I am with you, Dick, that I need tested…that is the only way I am going to know for sure. I’m just not very optimistic on this one. But, if I dont have the test, I am only going to have doubts about alot. I’m very frustrated.
thank you all for caring…take care.
March 22, 2010 at 10:20 am
I am glad you decided to go through mda, they were great for us. Ask for a doc for Connor right away too, just to get a second opinion on what the other doc you saw said about his feet and heel chords. PLEASE call Elizabeth,m she wil be so helpful to you, emotionally and in the medical aspect. You are on the right path now!
AnonymousMarch 22, 2010 at 12:21 pm
I called the lady at the MDA back today and asked her about this “verbal” diagnosis. She said the Dr I go to will appreciate the info but will in no way settle for that without definite dx. She said he probably would test for just that mutation or gene or whatever and that the info helps but no, not going to just take my sister’s “word” for it.
The Med Center here is Ne is awesome…so, I have high hopes and yes, I’m going to do things as fast as I can for Connor but MDA said I’d have to test first, or at least see the Dr first…I understand that.
I dont LIKE it…but I understand.
I’m going to call Elizabeth tonite…without fail…I’m interested in what she has to say, for sure. I figure if by the grace of God, I DONT have CMT, I can learn things that maybe someday, my sister would need. Even tho she wont speak to me.
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