My Introduction

[Guest guest]

Hi,

My name is JD Griffith & I live in stown, PA. I have minor

CMT symptoms and would probably not have realized what was

causing my problems if my daughter had not developed more

serious problems. My daughter died while in Vail, CO last

Christmas from " respiratory failure as due to or as a

consequence of Charcot -Marie-Tooth disease "

The following is excerpt from a letter I have written and that

will hopefully be published in the CMTA newsletter in Oct.

'My sixteen-year-old daughter, Marah, died of respiratory failure

on Christmas Day 2001, in Vail CO. while visiting her aunt and

uncle. She had been diagnosed with Charcot-Marie- Tooth (CMT)

Type 2-phenotype and needed AFOs. On Christmas morning she called

home and said she " couldn't breath. " and was using her cousin=s

nebulizer (ventolin for asthma) when she subsequently collapsed.

Dr. Ben Galloway, a Denver forensic pathologist, in his autopsy

report listed the cause of death as " Respiratory failure due to

or as a consequence of Charcot-Marie-Tooth Disease. " Dr. Galloway

and his staff spent an extraordinary amount of time and effort

researching CMT. Dr. Galloway's autopsy report and protocol were

reviewed by the Pathology Department of the National Jewish Hospital

in Denver, CO. National Jewish has been ranked number one in the

nation for excellence in treating respiratory diseases and first in

reputation, among pulmonary specialists, four years in a row by U.S.

News & World Report's " America's Best Hospitals. " ....

symptoms (pes cava, hammer toes, carpel tunnel problems, and

peripheral muscle weakness) but we also have a history of respiratory

problems and sudden death. My sister (55) went into respiratory arrest

in 1990 while in the hospital for a colonoscopy. She was told had she

not been in the hospital she would have died. She said it felt like an

elephant was on her chest. Electrolyte imbalance, as a result of bowel

cleansing, was suggested as a possible cause.

I (58) made two visits to the ER with severe breathing problems

two years ago after I fractured a collarbone and some ribs while

skiing. My mother and brother died suddenly. Their death

certificates listed other causes, however no autopsies were

performed, but in hindsight the cause may have been respiratory

arrest. My brother, sister and myself have been diagnosed with

asthma and have used inhalers.

Numerous citations exist in the literature concerning the

involvement of CMT with phrenic nerve and vocal cord problems. In

an article in 'The Archives of Internal Medicine' Dr. Chan

et. al, states, " based on evidence in the literature and this field

study, a significant number of patients with CMT will go on to

develop respiratory weakness. " Dr. Greg et al. in a study

reported in 'Muscle & Nerve' found abnormalities in phrenic nerve

conduction in 22 of 23 patients in which a response was obtained.

In a conversation with Dr. he said, " the phrenic nerve is

generally more affected than the peripheral nerves " in CMT patients.

He also stressed, " CMT and breathing problems should be 'FURTHER'

investigated, however no funding is available. I say 'further' only

because we actually know that breathing is involved and impaired in

CMT from prior work done by Dr. Chan, myself and others. " ....

CMT is a diabolical disease. The sinister progressive impairment of

lifestyle it generates in adults palls in comparison to the

incremental devastation that CMT wreaks on our children. My

heartache, as I saw the courage of my beautiful teenage daughter

as she struggled to maintain the illusion that she was normal

while expressing her torment through her poetry, is indescribable.

My vain attempts to share her pain, after she was blown over into

a mud puddle in front of her classmates, went unheeded.'

JD