Letter written by JD Griffith after the death of his daughter, Marah, and published in CMTA (Charcot-Marie-Tooth Association) Report 2002.
Frances Günter’s ex-husband, John Günter, wrote the now-classic memoir, Death Be Not Proud, after their son Johnny died in 1947, at seventeen, from a brain tumor. In it Frances writes of survivor’s guilt.
“Missing him now, I am haunted by my own shortcomings, how often I failed him. I think every parent must have a sense of failure, even of sin, merely in remaining alive after the death of a child. One feels that it is not right to live when one’s child has died, that one should somehow have found the way to give one’s life to save his life. Failing there, one’s failures during his too brief life seem all the harder to bear and forgive.”
It is time the CMTA remove the phrase “does not affect life expectancy” from the “What is CMT” description in our literature and website.
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, needed AFOs and had been complaining of morning headaches. 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.”
I joined CMTA in 2001 I received their literature and explored the website, which contained no information on breathing problems. . CMTA is not alone, in an informal survey of U. S. web sites describing CMT, only Yale’s Dept. of Neurology mentions diaphragm weakness, probably as a result of Dr. Chan’s work. CMT in the United States is not considered life threatening.
Following my daughter’s death I spent time researching CMT and the involvement of CMT with respiratory failure. I contacted the Canadian CMT organization, CMT International, and spoke with the director Linda Crabtree. She has severe breathing difficulties and vocal cord problems as a result of her CMT. Linda sent me valuable research and information from her organization on the involvement of CMT with the phrenic nerve (innervates the diaphragm) and vocal cord dysfunction (can mimic asthma and restrict air flow). Linda also sent me a disturbing e-mail suggesting that if I had access to this information earlier, my daughter’s death may have been prevented.
While reflecting on my family I realized that not only do we have CMT 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 Carter 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. Carter 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.”
Why isn’t more research being done on this problem? It is certainly not for lack of urgency but a lack of funding! CMT and serious respiratory problems may be unique to my family’s genotype, but I doubt it. I recently discovered an older CMT patient with severe CMT related breathing problems in my small town. I would suggest that if you have CMT and you are experiencing breathing problems that you consider it deadly serious matter.
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.
My belated awareness of CMT related breathing problems opened the door for me to connect CMT with respiratory failure in my family and I hope it will in others. If anyone knows of similar situations please contact CMTA or myself at firstname.lastname@example.org, or
J. D. Griffith
3013 Old Somerset Pike
Johnstown, PA 15905.
Please, let’s all get together and raise awareness and $ to fight CMT. Start a support group, organize a fundraiser, and buy a CMT shirt and wear it (be prepared for some odd questions). Contact CMTA for ideas and help. Together we can de-feet this insidious disease.
* The CMTA website still does not mention breathing problems or that CMT may be life threatening. Goto CMTworld or the MDA for breathing info.