Re: Newly diagnosed....but suffering for a long, long, time.

[Guest guest]

Dear Kate,

Your letter really touched me. My kids were about the same ages as yours when my

CMT began to manifest significantly (they were about ages 8 and 12), and I

became terribly depressed as I went from being a " normal soccer mom " to a woman

with a disability. It felt like my entire identity changed.

You asked what you can do... I would highly recommend, if you can afford it, to

find a great counselor to help you deal with your emotions regarding his illness

and disability. Everybody in a family is affected by disability... not just the

person with the diagnosis. You and the children are suffering, too. (Would your

husband consider therapy to help with the emotional aspects?)

Sending prayers and good wishes your way,

Lynna

[Guest guest]

Hi Kate,

MS is a disorder of the immune system, CMT is a disorder of the peripheral

nerves. Frederick's Ataxia also mimicks CMT. People have reported a diagnosis of

MS and since the genetic tests came out, they were tested and found to have CMT.

Lesions on the brain have sometimes been seen in X linked CMT.

We all know depression and anxiety. Are you sure he doesn't qualify for SSDI?

You said he did work at one time.

I don't think the pain in his gut is CMT-related, but it may be from stress and

worry = has IBS been ruled out here?

Learn all you can about CMT. Go through each one of our posts from the last 13

years to learn how different we all are. Then read through our Files.

As for breathing, yes, the Phrenic Nerve can be affected by CMT.

What can you do? Join the CMTA www.cmtausa.org, start reading information. Find

out if there is a support group nearby and go to it with your husband. As a

tri-athlete, you may want to run as a an awareness event or fundraiser for CMT

research.

Gretchen

[Guest guest]

Dear Lynna-

Thank-you!  Yes....we have recently begun seeing a marriage counselor (

" couples

counelor " )...she is a social worker...and has been helpful.  She has

reccommended seeing my husband individually...I just hope and pray......

________________________________

From: Lynna <lynnanicholas@...>

Sent: Sun, January 2, 2011 7:12:11 PM

Subject: Re: Newly diagnosed....but suffering for a long, long, time.

 

Dear Kate,

Your letter really touched me. My kids were about the same ages as yours when my

CMT began to manifest significantly (they were about ages 8 and 12), and I

became terribly depressed as I went from being a " normal soccer mom " to a woman

with a disability. It felt like my entire identity changed.

You asked what you can do... I would highly recommend, if you can afford it, to

find a great counselor to help you deal with your emotions regarding his illness

and disability. Everybody in a family is affected by disability... not just the

person with the diagnosis. You and the children are suffering, too. (Would your

husband consider therapy to help with the emotional aspects?)

Sending prayers and good wishes your way,

Lynna

[Guest guest]

Thank-you Gretchen!

You bet I'll find a fund raising event for CMT and run! I raised over $600 last

year and participated in a Mud Run!!! Good Times! Lesions and X linked

Chromosome CMT....interesting!! As far as IBS...it has been suspected...but is

vomitting was much more severe, and mega (1,000 mg/day x 5) steroid infusion

follewed by immune suppressant (copaxone) has kept vomitting at a minimum..( has

been suspected as abnormal display of MS.

I will do all the research I can!

Thank-you!!!

Kate

[Guest guest]

Hi Kate,

You sound like quite a woman.  Congrats on completing the 1/2 Ironman!  What

an accomplishment, especially with all you have going on.  I'm sorry to hear

about your husband's physical struggles with multiple issues.

Do you know what type of CMT your husband has?  CMT1A?  CMTX?

Breathing and speech can be affected by CMT, but it is uncommon.  In some, the

nerve to the diaphragm can be affected, causing breathing weakness.  In some,

the vocal cords can be affected.  With CMT1A, it's not uncommon for the

pharyngeal muscles to be weakened, which can cause swallowing issues, vocal cord

issues, and sleep apnea.  Since your husband has family members who have died

at a young age in their sleep, I would recommend that your husband have a Sleep

Study, to see if he has sleep apnea.  If so, a C-pap machine could save his

life.

You also asked if there is a correlation between MS and CMT.  These are two

distinctly different diseases with no direct correlation.  However, there are

documented situations where certain types of CMT have included Central Nervous

System involvement.  It's possible that he may have a variation of CMT that

impacts the CNS.  Listed below are a few references.  You may want to discuss

this possibility with his neurologist.

I wish you and your family the best.

(in So Cal) 

http://www.ncbi.nlm.nih.gov/pubmed/12707076

Arch Neurol. 2003 Apr;60(4):605-9. Transient, recurrent, white matter lesions in

X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Hanemann

CO, Bergmann C, Senderek J, Zerres K, Sperfeld AD.Department of Neurology,

University of Ulm, Ulm, Germany.

oliver.hanemann@...: X-linked

hereditary demyelinating neuropathies (Charcot-Marie-Tooth Disease

[CMTX]) caused by mutations in the connexin 32 (Cx32) gene account for

approximately 10% to 20% of all hereditary demyelinating neuropathies.

Mild subclinical central nervous system (CNS) involvement has been

previously described, and CMTX patients with transient white matter

lesions allied to CNS symptoms have very recently been described. This

is of potential interest, as Cx32 is widely expressed in both peripheral

nerve and the brain.PATIENTS: We

describe a family with hereditary demyelinating neuropathy and

transient CNS symptoms. For this study, family members underwent

genotyping and detailed clinical, electrophysiological, and magnetic

resonance imaging examination.RESULTS: We

present a CMTX family with a novel mutation in the Cx32 gene. Affected

family members show, in addition to the classic polyneuropathy,

transient and reversible white matter lesions on magnetic resonance

imaging scans, correlating similarly transient CNS symptoms.CONCLUSION: Patients

with CMTX can present with transient CNS symptoms and marked white matter

lesions on magnetic resonance imaging scans.PMID: 12707076 [PubMed - indexed for

MEDLINE]

Other articles:

Neurology. 2005 Nov 22;65(10):1672-3.  X-linked Charcot-Marie-Tooth disease and

progressive-relapsing central demyelinating disease.

J Neurol. 2007 Jul;254(7):953-5. Epub 2007 Jan 30. X-linked Charcot-Marie-Tooth

disease and multiple sclerosis.

Can J Neurol Sci. 2008 Jul;35(3):372-4.  A V139M mutation also causes the

reversible CNS phenotype in CMTX.

From: erikatenkids2 <erikatenkids2@...>

Subject: Newly diagnosed....but suffering for a long, long, time.

Date: Sunday, January 2, 2011, 4:50 PM

 

Hello everyone-

My name is Kate. I have been with my husband for almost 20 years now. We've

been through about everything 2 people can together. He was born with 1 leg

shorter then the other....significantly. He spent several summers in Shriner's

hospital having a Wagner Tibia Leg Lengthening. He was also born with 4 toes on

the shorter leg. He is now almost 5'5.

The summer of 1999 he became very ill....after a week of non stop vomitting, he

began vomitting blood. This was the start of what would become the most trying

time of our marriage. Initially they thought it might be non-hodgkins lymphoma.

Negative. Exploratory surgery and the removal of 1-1/2 inches of his instine

follwed. Nada. Doctor after doctor, drug after drug. The pain increased, and

increased. He gave up on doctors...and traditional medicine. The years passed

and it came to a point that he was vomitting daily....at times he would be in

bed for weeks at a time. Eventually the vomitting became so bad that he

perferated his esophagus.....finally they a mri of his brain....it showed

several lesions....spinal time was positive as well. (I might add that just

prior they found his TSH was 388....yes 388! He is lucky if he weighs 120 with

steel toe athletic hikers and fully clothed!) They diagnosed hiim with MS-but

the 1st neurologist wasvery

supicious of his build and extremely high arched, stork like legs.....( his

birth mother, who left him at age 4 had re-appeared and although she was on

disability for Fredrich's Ataxia, had been told she really had Charcot Marie

Tooth.....she was raised a Christian Scientist, and didn't believe in

conventional medicine).....

He has been on Copaxone for MS for one year....a recent nerve conduction study

has given him a diagnosis of CMT. This scares him far more then MS ever did.

His birth mother has little to no muscle on her legs....very little movement,

sensation in her hands or feet. She does walk with a drop foot. An uncle died

aat a very young age ( 40's) for no apparent reason....in his sleep. His

grandfather died the same way.

The depression and anxiety my husband struggles with is immense! I sometimes

don't know what to do....there are times he could sleep forever...yet other

times when he can't sleep at all....He hasn't held an actual job in almost 10

years.....since it's been over 10 years, he doesn't qualify for

disabilty.....and I make too much for him to receive SSI...go figure, when we

first met, he worked 80+ hours/week....it " kills " him not being able to " jump "

out of bed in the morning....this pains me to all ends! I want him to be

happy....I would gladly give up my arms and legs for him to find his spirit!(

honestly I would....and I am an avid runner/triathlete...finished my first 1/2

ironman....70.3 miles this fall).

1.) Does anyone know if there is any correlation between auto-immunity and /or

Multiple Sclerosis and Charcot Marie Tooth?

2.) Is this chronic dibilitating pain ( primarily in his gut) associated with

CMT? How does he differentiate what is MS and what is CMT?

3.) What about breathing and speech slurring?

4.) As his wife, what can I do? How can I help?

any information is more then welcome...we have 2 beautiful, smart, talented

children ( 10 and 14 ) they just want thier father.

Thank-you! My prayers are with each and every one of you " ....may God Bless you

and cradle you in the palm of his hand...and give you COMFORT and peace! "

Kate

[Guest guest]

Hi -

Thank-you....but my accomplishments are nothing to what my husband goes through

( and many of you ) on a daily basis. Running/biking/swimming has been my

sanity! It is how I deal with stress.

Thank-you so much for the information! I will definatley inquire on the CNS

involvement. I do not know what type....unfortunately his mother chose to look

the other way and not seek help for herself. The X linked variant is very very

interesting....

I think I have learned more in this forum and on 's web-site

(www.crabtree.com) then I have been able to find on my own!

Blessings-

Kate

>

>

[Guest guest]

Hi Kate,

I am a triathlete with CMT. I am happy to talk with you on ways to collaborate

to TRI for a CURE for CMT if you want. Feel free to drop me a line off list.

My email is donna@...

Best wishes from London,

Donna

www.beatinglimitations.com

As a tri-athlete, you may want to run as a an awareness event or fundraiser for

CMT research.