New Zealand Organisation for Rare Disorders
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Dave Hill's experience with Superficial Siderosis
Another story of Kiwi can-do for rare disease information and support.
International SS Support Group
From Dave Hill's experience with Superficial Siderosis, and his desire to know more and to help others, came an international network and a mine of information. – March 2010.
Superficial Siderosis (SS) is a very rare progressive brain disorder which prior to the invention of the MRI machine was only diagnosed on the autopsy table. It is an unusual medical complaint because it has approximately 30 side effects with this number growing daily, as more research into the complaint is carried out.
A person needs to have firstly experienced one of three ‘triggers’ - an illness such as meningitis or viral encephalitis, an accident usually to the head but sometimes to the back or neck, or perhaps resulting from an operation, usually to a tumour. To develop SS the person needs to have had several bleeds in their Central Nervous System. For most, the blood is attracted to the cerebellum part of the brain due to Bergman glia cells which act like magnets, and over a varying amount of time ( anywhere from a few months to 30 years) the blood turns itself into a rock hard iron salt deposit which then retracts brain movement in either direction. Other parts are also liable to attract the bleeding such as the brain stem, or 5th and 8th cranial nerves. If coated in hemosiderin all these create varying side effects.
Generally the first sign of SS is deteriorating hearing and 95% of all SS patients lose their hearing completely or retain only a small, usually useless, amount. Other symptoms are many and varied ranging from severe loss of balance, lack of coordination, stiffness and jerky movements, bladder and bowel malfunction, early dementia, weakness in arms and legs, TIA’s, Vestibular System breakdown, visual difficulties, headaches, migraines, double sciatica, epilepsy, inability to smell and/or taste, failure to feel pain in teeth, considerable tiredness, speech difficulties, to name but some. Some sufferers are restricted to bed full time, many rely on wheelchairs for mobility.
Dave Hill of North Otago, back in 1991, was running a major fundraiser for the next year’s Paralympic Team to Barcelona when he was struck down with viral encephalitis. He did recover sufficiently from this, but experienced unexplained problems. Some nine years or so later, his hearing deteriorated but this was put down to the aging process.
In January of 2003 he was well aware something was drastically wrong as he struggled with an unusual and most annoying eyesight sensation while drive motor vehicles. It resulted in him having to give up a secondary job of night time truck driving and for twelve months tried numerous avenues to get diagnosed. This was later diagnosed as Vestibular System breakdown, an uncommon side effect.
During that time he went through two sets of hearing aids, experienced a TIA and was quite frustrated from supposedly getting nowhere. Sessions on a NASA space invented balance apparatus only proved he was suffering from severe imbalance. Finally in January 2004 he privately had an appointment with Dunedin Neurologist, Doctor Alan Wright, who within minutes of the consultation starting, was aware of Dave’s complaint but refused to name it until more testing was carried out. These took several months but finally in July after yet another full medical examination by another neurologist, the diagnosis was made and the patient advised to cease work.
The next 12 months following did not appear all that bad, however as time went on, the many sideline effects kicked in with Dave developed a large percentage of the possibilities. Six years later his hearing is zero and Dave has been fitted with a Cochlear Implant, relies on a walking frame to get around, but before long will be advancing to using a wheelchair.
Being a researcher and writer of historical works, Dave was most interested in the various web reports on SS, but in most cases was unable to understand the detailed medical jargon. He found an American website hearing forum on which many SS survivors reported and asked questions. From this, he became friends of several fellow survivors all round the world and in continuation Dave set about turning the medical website jargon into plain understandable english, creating his own informative site superficialsiderosis.
Just recently Dave has been sending personal stories completed by the members, but he mails these direct to the email addresses rather than putting them on the website for all the world to read. This service is greatly appreciated, especially by the fellow survivors. Grown men even admit that they have been known to cry as a result of reading other people’s troubles.
Providing this small service is a continuation of Dave Hill’s lifetime of helping others and he says getting messages of appreciation is always good and it keeps himself going. A newly acquired American Neurologist friend and SS researcher, originally told Dave that there were only about 50 known SS sufferers in the world, but has since had to change his thoughts as the group's numbers increase. Although learning and study of the disease is indeed limited, more and more medical specialists are showing interest. To help, Dave has written a questionnaire paper, approved by the American Neurologist, and aimed at finding out more first-hand about the trials and tribulations of this uncommon disorder.
It’s amazing how setting up a site like this can arouse huge interest. Neurologists, GP's, Physiotherapists, Audiologists and Cochlear Implant Clinics have joined in with the survivors in being kept informed of the disease. Government departments from two countries have also been in email conversation with Dave. One major benefit has been the offer to survivors to be involved in a medical trial of an iron salt binding medication which is then excreted from the body. The drug was originally introduced for a completely separate complaint, but all indications are that it appears perfect for SS patients. Currently American FDA approval is being given and intentions are to release the drug for trialling next month (April 2010). Thirteen of the members of Dave's group have given their consent to be involved, and all thirteen cannot wait to getting into the medication, such are the ongoing frustrations with all the numerous side effects of SS.
Possibly the one most important result from the formation of a group involving such a rare complaint, has been the educational aspects to survivors and their own realisations that something they were unsure of, is in fact a complaint completely relevant to the condition. Often this is something their GP's and even Neurologists are completely unaware of. Daily, Dave gets emails from around the world from fellow survivors picking up on valuable information from other people's experiences via their personal stories. A recently published article covering the first ever reference to Superficial Siderosis has also been well accepted. The 1907 Chicago Neurological Society case description mentions many side effects still relevant today, although the condition did not receive its name until the 1980's, and it was 1965 before any living person was diagnosed - all previous cases were found during autopsy, such is the value of the modern MRI machine.
Known side-effects of Superficial Siderosis
- lack of hearing - imbalance - co-ordination problems - early dementia - bladder complications - bowel complications – headaches – migraines - severe tiredness - short term memory loss - loss of ability to smell - loss of ability to taste - muscle cramps - double vision and other vision complications - cranial nerve palsies - imaginary smells, tastes and sounds - permanently bed bound - failure of the senses - one pupil larger than the other - double sciatica - mini strokes – seizures - speech difficulty – nystagmus - numbness and pain in parts of the body, especially feet - failure to feel pain in the teeth - ‘Parkinsons‘ type leg and arm wobbles - Swallowing difficulties.
NZORD extends its admiration and support to Dave for the work he has done in the face of a disease with very challenging symptoms.