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Living With Episodic Ataxia
Recently during a visit to our current Neurologist Professor Elsdon Storey, we discovered that we do not have a SCA as such but we do have a form of Ataxia. Many of the stigmas that other Ataxia patients deal with daily are also labels and situations that people with a SCA face, such as being perceived as having a drinking problem which is causing the dizziness, swaying unsteady gait, and slurred speech, but those of us who know better recognise that these are signs and symptoms of having an Ataxia related condition. It is for these reasons that I hope that the SCA group will be open to all people with an ataxia related condition.
Two of my three children have EA. We have actually been diagnosed with EA 1 and although I don't understand too much about the condition I know that I have had EA 1 since I was about 7. My earliest memory of Episodic Ataxia is one day at the school sports, I was running in a relay race at school and I could see where the finish line was but as the race went on, I soon lost coordination in my legs. I lost sight of the end because my eyes were darting from side to side and I began to swerve all over the course eventually falling over. When I tried to regain my composure, dignity and balance I just kept falling over. I remember it being so embarrassing.
When my two children Aidan now 24, and Lisa now 19, were only two years old I first noticed symptoms and signs in their bodies that alerted me to the fact that they had inherited whatever it was that I had. We spent many holidays at the beach and it was during two separate visits that I first saw my son at age two standing at the waters edge, when a small wave lapped against his legs. The force of the wave was enough just to push him off his feet and as he tried to regain his footing I watched him repeatedly fail to make it to his feet. I observed his legs were shaking uncontrollably. It took at least a minute for him to regain some equilibrium and to be able to walk with co-ordination. In later years the same symptoms were recognised in our daughter Lisa at a similar age. I soon became aware that these incidents were frequent and similar to the way all three of us experienced them. I made enquiries at Melbourne’s Royal Children’s Hospital with a Neurologist who said it was serendipity that he had only that week read about a condition in a medical journal that sounded very much like what we were describing . He mentioned that it was Episodic Ataxia and that the incidence of this condition is quite rare and that at that stage he had not encountered another patient with EA1.
I had managed to hide my attacks of dizziness quite well by not participating in any activity that I knew would bring on an attack. Startle and excessive high temperatures were situations that could not be controlled and at these times I learnt to sit or stand still, not talk and wait until the dizziness passed. One day whilst standing on the corner of an intersection, I was waiting for the lights to change and as they did I walked off the kerb to the road. As I did a car approached from the road behind me and came to a sudden halt, having not slowed sufficiently to check for pedestrians. I had not expected this and this series of events bought on a severe ataxic reaction. I found myself unable to walk due to lack of coordination in my legs and a rapid left right movement sensation in my eyes. I had to crawl back to the kerb and remain motionless for a short while to regain my balance. I am particularly compromised in my ability to walk if I have a high temperature due to fever.
My EA1 has not been a real problem for me however my daughter Lisa has experienced great embarrassment from her peers and she has found life as a teenager has been difficult due to not being able to participate in sports. Lisa experiences EA 1 symptoms at least 4 or 5 times a day. The episodes are more obvious to others and she has been bullied by her peers as being drunk or under the influence of drugs. Twice Lisa has blacked out in quite dangerous situations.
We experience episodes of dizziness when:
We have just begun genetic testing through blood tests to determine if the diagnosis is correct and if so, how we would manage any future pregnancies. I am told with In Vitro Fertilisation we could actually stop the next generation from having EA1, if that was the course that our kids chose. I have no knowledge of a family history of Episodic Ataxia or any reported symptoms from my family so it seems I am the first in the family to have this ‘wonderful’ genetic abnormality that I have passed on to two of my three children and they in turn have a 50/50 chance of also carrying on the condition. The blood tests will have to be sent to labs in Europe, U.S. or Germany as there is no testing done in Australia. This testing is expensive but we hope to discover more about the condition and exactly what we are dealing with.
We have tried a drug called Diamox which has had some success with patients however it proved to be ineffective in our case. We are considering a different drug : Tegretol that is currently used to treat people with Epilepsy, however there are some serious side effects to consider especially for women of child bearing age
I would appreciate any feedback from others with an Episodic diagnosis via the SCA website
I am seeking others who live with an Episodic Ataxia Diagnosis because I know of no other people with EA. The Neurologist I see knows of only one other family in Victoria with EA1 but due to confidentiality he cannot give us their names so we can't contact them.
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