Re: CMT1A in infants and toddlers: looking for help

[Guest guest]

I have a son. He has CMT. He is 3, he isn't affected with it that bad but it is

hard to deal with. We just found out.

[Guest guest]

Hi Becca,

Adam was in DAFOs at 4. I would consider that early on. If you want to talk I am

here.

[Guest guest]

Hi Becca,

My daughter is 4 with CMT and has had bilateral drop foot since before she was

one, but wasn't diagnosed with CMT until she was 3 and still no genetic test has

proven it. She does have mutations in 2 known genes that cause CMT but I spoke

to a well known CMT Genetic Researcher out of University of Miami and he doesn't

think they could cause the disease. So the genetic test were inconclusive. They

believe its a sub type of CMT2 or CMT4. My email is alwayznforever22@...

if you want to talk.

[Guest guest]

Hi ,

My son Cassidy has CMT type 2. He was showing symptoms as early as 18 months.

He had a funny gait, the beginning of a drop foot which we thought was a normal

toddler walk. He started swinging his foot to the side when he was 2. We then

spent the next 3 years trying to get a diagnosis...we were told that possibly he

was just a clumsy child, he had flat feet etc...finally after 3 years we were

told he probably had CMT. He was then referred to the MDA clinic and recieved a

diagnosis. It was a very difficult journey trying to figure out what was wrong,

going from dr to dr. Nobody seemed to think there was anything wrong at first,

it was finally a podiatrist I took him to who agreed with me that something was

not quite right.

He is now 8, and wears bilateral AFOS and is doing ok...he has an IEP in place

at school (modifications in his curriculum). He has PT and OT in school and sees

a private PT once a week. He has a lot of atrophy in his lower legs and some

weakness with his hands. We have no one in our family with CMT and have 2 other

children, 13 and 3 who show no signs as well.

Do your other children show any signs of CMT?

Take care,

Jeannie

[Guest guest]

Hi Becca,

My son was also diagnosed early on. He didn't walk until 22 months and them

fell all the time, mainly from tripping over his toes(foot drop}. He was in

DAFOs by the time he was 2 and half. But with time, therapy and and active

lifestyle he has progressed and has finally reached basic toddler milestones

like hopping and twirling without falling down. I wouldn't have thought he

could do these things at age 2, he is 5 now.

I can be reached at meks61@...

[Guest guest]

My son has CMT and there is no family history. He was weak as a baby

but we didn't really worry until he was 15 mo. and didn't walk. He

finally walked at 22 months and fell down a lot. He is now 4 years old

with AFOs. He still falls down a lot but has adjusted well. He has a

variation on the MPZ gene. I don't know a lot about CMT, but I am glad

I found this group.

[Guest guest]

Hi all,

I've been emailing a little bit when the info fit me. Now I'm ready to

introduce myself as I appreciate Gretchen's warm reception of each new member.

My name is Ann and live outside of Chicago. I'm 49 and diagnosed at age 40. I

didn't understand why I didn't have balance all through grade school, why sports

was so hard for me and not my friends, why couldn't I stay up on ice skates,

etc. - but I worked hard at being able to do sports. My daughter is 25 and just

diagnosed, also. She also worked very hard at performing and couldn't

understand why she wasn't able to keep up with the others. Her 2 year old

daughter is tripping constantly - we all suspect she probably has CMT also.

I've advised her to not have her diagnosed, thinking that she may use it as a

crutch and not try hard. What do you all think?

Thanks for this sight - I do appreciate all the communication back and forth.

Ann

[Guest guest]

I thought at two that my youngest had CMT. Turned out he didn't and now he is

the most athletic kid that we have. You don't have to rush to get a diagnosis

but in my opinion it would hurt her more not to know.

I would be so upset if I had something else wrong with me and no one told me. I

would never trust anyone.

[Guest guest]

Hi Ann,

My thoughts I would have her tested.

I joined this group one year ago when we first found out our son had CMT. I'm

still learning and through this process I've learned that certain meds can

affect CMT so negatively and recently my son was diagnosed with high cholesterol

and I found out that that statins are very harmful to CMTers. There has also

been a lot of discussion about children having special needs in regards to

school.

With CMT affecting each person differently within the same family, just seems to

make sense to know to benefit her future and her health.

[Guest guest]

Hi Ann,

I was just diagnosed a few months ago with CMT 1A at the age of 39. It is a

relief of some short to finally have answers to all the

questions, most of which it seems everybody here has had at some

point before they were diagnosed. Why sports were so difficult, why

my feet had such a high arch, why walking in flip flops just didn't

work, why the movement in my toes has been compromised in the past

few years, so many little things I had always questioned.

I have two daughters 9 & 10, I have no doubt my 9 year old has CMT. She has

always been a tip toe walker, she has high arches, she cannot do sports like all

the other kids, she falls for no reason. But she

still keeps up with everybody else, like myself as a child just a

little slower.

I also have been torn on whether to have it comfirmed. There is a side of me

that says why now, what can they do for her? I can go on and be aware of her

possible condition and handle each hurdle when we come to it. Knowing now why

she does what she does, I am more patient with her and more aware she might need

a little more empathy.

I'm not afraid she will use it as a crutch if it does get confirmed, I am afraid

she will feel different, especially if it turns out her sister is OK. So there

is a side of me that says wait until she needs to know, wait until she is old

enough to accept and understand. I don't know what to do at this point either.

[Guest guest]

,

If it was a relief for you to know what was wrong ...why wouldn't you want your

child to know. My mother didn't talk to me about it either...I new I was

different she didn't have to say I was different! We ARE different!!! Everyone

of us!

Your child needs to know we are all different but " oh so " unique..and wonderfuly

made in our own way. How did you feel when you struggled to keep up but didn't

know what was wrong?I felt lousy!!! Wondering, thinking I was some kind of

dummy! Like I didn't belong anywhere!

My mother was ashamed of me and my dad...My mother didn't want to deal with

it...and it can scar one for a life time not just at home but from school too.

Geri

[Guest guest]

Ann,

Oh my, please do have her diagnosed if you think she has CMT.

My CMT was not diagnosed until I was 43 and I have spent my entire life thinking

that I was not trying hard enough or that it was some personal shortcoming or

character flaw that was the reason for my issues. In my teens, I could not keep

up in PE and kept falling because " I was a wimp " . In my late 20's, I complained

to my Dr about fatigue and was told that it was because I was not getting enough

exercise so I killed myself for several months trying to build stamina and

instead just felt worse.

Subsequently, I was not willing to discuss other issues with my

Dr's because I feared that somehow it was just more of what I was not doing

right.

Finally being diagnosed has brought a mixture of relief and anger for all of the

years of beating myself up for what has turned out to be a medical issue. None

of my children seem to have been impacted, but I would spare them and anyone

else the sense that they were having problems because they " weren't trying hard

enough. "

P

[Guest guest]

The most important thing about early diagnoses is that not only does it help the

doctors to see the progression of the disease from start to finish, but it

allows for the preventive measures such as AFOs and Physically therapy to have

the best results. The AFOs at younger ages helps to delay deformities and helps

a lot for a near normal gait. I'd like to have my twins tested but the peds all

say wait until there are symptoms but every time they toe walk or say their foot

or leg hurts I freak out.

[Guest guest]

I know what you mean about watching your children closely. My son is 20, and

thank goodness, nothing yet. Everytime he would tell me that he had a leg cramp,

I would lose sleep at night. I would make him walk around the house showing me

that he can walk on his toes and his heels, and then I would feel better.

Meanwhile, he has the strongest and most beautiful legs I have ever seen (LOL)

Jackie