Breathing issues

[Guest guest]

Angie,

Your story really peeked my interest as now looking back I think my sister also

had CMT but was diagnosed with ALS and was gone 3 years from her

onset, the breathing etc etc. Now she could not speak any longer nor swallow

food and that was the ALS I suspect. She had to have a port a cathe and she

died like a month after it from toxic poisoning. Are you sure your Mom didn't

have something more than CMT?

in Oklahoma

[Guest guest]

Hi, My name is Angie. AGE 34. I am new to .

Not trying to interrupt on your conversation ( and ), but my mother

had CMT1A and had breathing issues.

I am a respiratory therapist (14 years) and it was hard to accept that this

disease that was suppose to only affect the hands and feet was hitting my

mother's breathing. All of her doctors were saying she was a hypochondriac and

she needed to just lose weight. My mother was 51 when she passed away in 1998.

Initially, it just made her short of breath when lying down.

Then she required Oxygen, but I think that was a misdiagnosis now that I think

about it. It was more of a ventilation problem instead of an oxygenation

problem. She used BiPAP for a short while. It hit her fast. She developed

Congestive Heart Failure due to the increase work of breathing.

She had the CO2 build up in her blood that made her go unconscious. We had no

idea this was the problem. My dad brought her to the ER and after they

did a blood gas they wanted to intubate her, but we tried the BiPAP

first. It helped her CO2 of 108 drop down to 60's. Normal is 35-

45. She woke up and went home after a day or two, but it finally got

the best of her a month later.

We knew her phrenic nerve was involved before all of this, but it just became

too much work for her to keep it up. We all thought she was doing okay. She

had asked me about a tracheostomy and ventilator---what they were all about. I

told her everything I knew and she chose to not be resuscitated. That was a

tough decision for her and hard for us to accept.

I have known I had CMT, but hadn't gone to be tested until a few months ago. My

daughter, 11 also has it. I believe it is affecting her more than me. No

breathing problems, yet. My neurologist says it is too late for it to affect my

breathing. I took that with a grain of salt. From my mom's shortness of

breath to death was probably 2-3 years. What is interesting is my mother's

records were " destroyed " in the big flood in Houston.

I have known I had this, but haven't gone to be tested until a few months ago.

My daughter, 11 also has it. I believe it is affecting her more than me. No

breathing problems, yet. My neurologist says it is too late for it to affect my

breathing. I took that with a grain of salt. From my mom's shortness of

breath to death was probably 2-3 years. What is interesting is that all of my

mother's records were " destroyed " in the big flood in Houston.

I could go on and on....just like the rest of you. We all have our

stories.

Angie