Monday, 14 April 2014

A STRANGE CASE OF PATIENT DIAGNOSING HER OWN "MYSTERIUOS" ILLNESS! - TRUE MOTIVATIMG STORY OF KIM GOODSELL

     Many a time patients want to know more about their own illness. Giving them information could be a tricky process. Mistakes happen - in the form of too little / too much information being given. Finally both the doctor and  the patient give up.
     I remember making patient education information files  about common diseases. It helped me immensely in saving my skin in one particular episode where the patient refused angioplasty and the next day died. His immediate relatives who were abroad were very upset. Only when I showed them what was discussed with the patient and  showed them the documented evidence that he had refused the options, they cooled down.
     Most refuse to be told micro details and possible complications. Even when the patients are seriously ill, after listening to all that is told to them, they ask the same question  " no problem, isn't it?" " No other problem, but we are having enough of them to go by" I tell them.
     Then comes a patient once in a way , who is like a breath of fresh air - the one who  asks pertinent questions, understnds the answers, and discusses intelligently - a pleasure to deal with. Like all good things, these patients are rare.to come by. This is the story of one such exceptional patient
     Kim Goodsell in San diego at the age of 30 started noticing ' a strange instability'. That was 20 years ago when she was training for an ironman triathlon. She was diagnosed with 2 rare diseases. One was a disease giving rise to palpitations - ARVC (Arrhythmogenic Right Ventricular Cardiomyopathy)which is known to cause fatal arrhythmias. She got a cardiac defibrillator implanted (as required) and started getting excruciating pains. She could not even hold a fork!The second rare diagnosis came in the form of a neuropathy which caused progressive degeneration of the muscles for which she had to undergo hip replacemen due to a dyspalsia of the hip. . The disease was CMT (Charcot - Marie - Tooth disease) type 2. She gave up the rigorous training and In 2010, asked the physicians at the Mayo Clinic whether her 2 ailments were related.  She was told that the odds for having the 2 diseases together were less than 4 per million that is even lesser than the chance of one being hit by an asteroid! She next consulted the geneticist who tried to dissuade her by saying that it would cost her $3000. But she wanted clear answers. She had found out that she had the  the LMNA gene the mutations of which can cause bone disease, cardiac disease, neuropathy, systemic degradation. She insisted, spent for herself, got the test done and then came the surprise - the test was positive
     This was the beginning - she started to study the molecular pathways of the products of the LMNA gene - She found convergence of lamin A/C and desmosomal proteins. The mutations on the LMNA gene were pertubating the downstream desmosomal proteins. She not only studied  the problem in great detail, she wrote a dissertation on it and even set up her own treatment plan!  She started on a diet that she followed strictly - no excitotoxins (glutamates); no gluten, solanin contained in pepper, tomato, eggplant which she had loved to eat before.
     Her outlook on  life changed  Her health improved, relations with other family members improved and she could walk without support. She could even travel and participate in the outdoor adventure with her husband.She felt she had reversed the disease process.
     Her physician, Dr. Topol, feels that she is a great inspiration for other patients and even the physicians. Physicians are indeed shocked to know that she had deciphered the mystery of her own rare diseases and taken steps on her own which helped her not only to get better but also to revferse the disease prcess!  Of course, the advanced  technology stood by her and helped her. This was impossible 5 years ago.
     What differentiates this patient - Kim Goodsell from others - she had an 'insight' a single minded focus and energy to understand her disease; a gut feeling (born out of research and knowledge) to go ahead with the expensive gene tests despite being dissuaded. She stood to gain a whole lot! She did not waste time on self pity and performance of useless rituals!
     We only wish there will be many more Kim Goodsells! Then the interaction with the patients becomes more interesting, more meaningful and rewarding to both the patient and he doctor!

No comments:

Post a Comment