Mito Sufferers and their stories:
Judy was born in 1933. There was no indication of any medical problems then or until she was well into her adult years, although she lacked hand-eye coordination and was not physically robust.
The first signs of a problem were when she began to go deaf in the mid-nineteen seventies. She visited a specialist who concluded that it was due to her having had measles as an adult. In 1979 she again saw a specialist and was advised that the deafness was due to the degeneration of the aural nerve and that it was incurable. She wore aids from then on, getting increasingly powerful ones as the deafness became more acute. She had acupuncture for a while in the first few years and reported that it helped.
In 1988 she had a vehicle accident, injuring her sternum. From then she began to develop symptoms which were finally diagnosed in early 1990 as Type 2 diabetes. The onset of the diabetes was attributed to the accident. Osteoporosis was also diagnosed at about this time. Her dizziness, attributed to the deafness, developed throughout the nineties, to the point where we had to move to a house with no stairs or steps. From 1980 through to 2000 she had a number of unexplained falls. She would be walking along and would suddenly pitch forward in a totally uncontrolled way and crash to the ground, and could not explain what happened. During the same period she began to suffer from constipation, which again got worse as time went by.
By 2002 she was beginning to fall asleep regularly during the day, and in about August, after a conversation with a friend, I suspected sleep apnea, which was confirmed by the sleep unit at the local hospital in October. She was to be fitted with a CPAP mask when we got back from a Christmas holiday with our son and his family. Also during this period she needed to urinate several times a night. She attributed this need to the fact that she was waking up regularly because of the apnea but later she was fitted with a catheter and the need abated so it is reasonable to conclude that she was already suffering urinary tract problems. During this period her memory also began to fail noticeably, to the point that at Christmas she was unable to recognise friends that we had known for years. By the end of the year her balance was such that she had difficulty walking unaided.
On 4 January she and I walked to a local coffee shop, about a kilometre away. She was very unsteady, and felt very cold. It was a windy day and we got quite cold sitting outside the cafe. We returned to the house and as we were beginning lunch she had her first seizure and all functions stopped. Thanks to the skills of our daughter-in-law she was stabilised until the ambulance arrived and breathing and heart functions returned to normal. She was rushed to hospital where a range of examinations were completed. After about two hours she returned to consciousness and awareness. Her overriding problem was an urgent need to urinate but she was unable to do so. She was fitted with a catheter which remained with her until her death.
When I was giving her medical history to the hospital neurologist the following morning she immediately suspected MELAS, which was in due course confirmed by biopsy. That was the first time we had heard either of MELAS* or of mitochondrial disorder. After returning home in mid-January the urinary problems became worse, requiring a spell in hospital. One day during this period she suddenly lost the last of her hearing. It was so sudden that she thought the batteries had gone in her hearing aids. From then on everything had to be written down for her.
About a fortnight later a second hospital visit became necessary to try to deal with the urinary tract problem which was by now acute, and medication was prescribed. Two weeks later again she went back into hospital so that something could be done about her constipation which was by now at crisis point. Apparently after the colonoscopy the staff had some trouble waking her. By now she was virtually immobile without help and a wheel chair was acquired. The following week back at home, while she was at the vanity cleaning her teeth, she suffered another mild seizure and was taken by ambulance to hospital again. After another week there it became apparent that there was little that could be done in the way of treatment.
We decided that she should be looked after at home. From then on deterioration was rapid, with repeated mild seizures and her condition getting worse after each one. She ranged from total awareness to severe hallucinatory periods during this time, and was hardly able to eat. For the last three weeks or so she was bed-ridden, and her condition slowly worsened until finally the body gave up. Three months had elapsed from the first seizure. She was 69.
10th May 2009
*Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like Episodes
- Grandmother: deafness, muscle atrophy, dementia.
- Mother: deafness, muscle atrophy, chronic constipation.
- Uncle (mother’s brother): deafness, constipation, dementia.
- Sister: possible cardiomyopathy, deceased at 55.
- Brother: deafness, muscle atrophy, constipation.
- Elder son (52): depression, deafness, lactosis.
- Younger son (50): insulin dependent diabetes, deafness, macular headaches, dizziness, renal problems, muscle atrophy.
- Niece (sister’s daughter 41): migraines, gestational diabetes.
- Nephew (sister’s son 43): insulin-dependent diabetes, deafness.