My Story
I have Familial Episodic Ataxia (type 2) the generic name given to a rare syndrome which causes nausea, dysarthria, dysmetria, ataxia, etc. To those who do not know me, I appear completely normal between attacks. But those who know me also know that life can be more than just an everyday struggle. They can tell the signs when I am trying to fight off the attacks. One day, I may be fine, but the next day, I may not be able to walk at all or do the most fundamental things like hold a pencil in my hand.
Ataxia is rare, and Episodic Ataxia is one of the rarest in the family of Ataxias. Aside from my family, (I have 13 brothers and sisters), I have found only a handful of families that have this type of Ataxia. Seven other brothers and sisters of my family also have the gene, including an uncle and some of his children. I have been the fortunate one to have it the worse in my family,
My story begins at the age of 13, during my first year of high school. We had six class periods a day. I recall that after my physical education class, I always began to feel dizzy and sick. The class following physical education was sixth period English. At the time I didn't understand why, but I always spent the class with my head lying on the desk. There were many days I had to excuse myself from class and go to the nurse's office.
I had no idea what was happening. I began to get sick frequently. When I became sick, my eye pupils shook uncontrollably, (the doctors call this nystagmus), I became dizzy, I had difficulty in walking (I walked as if I were drunk). Nausea followed the dizziness, and it usually took three to four hours before it subsided.
One time in the nurse’s office, during one of my episodes, while I was lying down, one of the nurses approached me. She sat down beside me and asked, "Do you smoke marijuana?". I was startled by her words. My reply was an unequivocal, "no". I had no idea what was happening to me, but I was surprised by the reaction of this nurse.
My parents took me to Kaiser Medical Center several times. The doctors ran several tests to find out what was wrong, but nothing showed up. I found out years later one of the doctors suggested to my father, I was taking drugs. I had ordered my records from Kaiser Medical Center many years after my father took me to see the physician. While I was ruffling through the pages, I found a document which had a conversation between the neurologist and my father. The neurologist asked my father, "Has your son taken any hallucinogens? and my father replied, "Not to my knowledge, but he has been a little rebellious lately." So now my father believed I was on drugs.
It was now a foregone conclusion that the school, the doctors, and my parents believed I was on some kind of drugs. It's not very easy to find out what is wrong with you when the doctors and your family have already concluded that you are on drugs.
After several more doctor visits, and after more tests that did not show anything, the doctors suggested I see a psychiatrist. My father, however, did not believe in psychiatrists, so I never went.
I did not know what to do. Nobody believed me. They either thought I was on drugs, or they thought it was psychosomatic. I knew that it was not in my head, but I wasn't able to convince anyone of it.
After all these bad experiences, I stopped seeing doctors, and I tried to learn to live with it.
In 1977, I married a girl from Central America, but before we got married, I told her about my sickness. She didn't seem to care. But in 1979, at the age of 24, the disorder turned for the worse.
At the time I was working my way through school as an orderly in a local hospital. I was carrying a patient on a gurney, and I had an attack. Normally, during an attack I could continue functioning. Although dizzy and sick, I was still able to continue what I was doing without anyone noticing how I felt. But, this episode was different. I lost control of my legs. I lost total coordination. My arms wanted to go one way, and my legs wanted to go another. I collapsed onto the floor, and I was not able to control any portion of my body. The patient on the gurney left my hands and went crashing through the double doors. They took me to emergency, and I was later released. The following day, a similar episode occurred. I subsequently had to quit my job at the hospital, and I spent five months on disability. Ever since those episodes, I continued to feel tingling sensations in my legs, arms and joints.
I went to Stanford University Hospital, and they ran several different tests, some relating to the inner ear, but again found nothing. They had never seen this disorder before, and they too suggested I see a psychiatrist.
Later as some of my siblings grew older, they began to experience similar episodes, although not as severe as mine. When the other members of my family began having episodes, some of the doctors became more interested. The symptoms in the other members of my family began about the same age the attacks started occurring in me.
I have gone through many different and difficult experiences because of this disorder. One of my experiences occurred while I was attending college at night. One night, I parked on the opposite side of campus where I attended class. It was the only parking spot I could find. At that time, I was embarrassed about my sickness, because no one understood, and many people thought it was in my head, but I was not going to give up. I became ill during class, and I was not sure how I was going to get to my car. I waited until everyone had left the classroom, and I crawled from one side of the campus to the other to reach my car. It took me three and a half hours. When I reached my car, I crawled in, laid down, and slept until I could drive home.
In another episode, I was in one of my University classes. I had to give an oral presentation, and I felt an attack coming, but I tried to ignore it. When it was time to give the presentation, I walked to the front of the class. In the middle of the presentation, I lost my coordination, my legs buckled beneath me, and I called out for someone to help me. They wheeled me into the next room until someone could take me home.
In 1982, we received some interesting news from my uncle. We found out he had some of the same symptoms I was having. By accident, he found a doctor in Oregon, Dr Jay Nutt, (don’t be fooled by the name) who had actually seen a similar disorder, and he was studying it through a research grant. He called it Familial Ataxia with Vertigo. Since there was no name for the disorder, the name he used simply described all the symptoms.
In spite of all this, I was still able to obtain a BS in Business Administration with a concentration in accounting and an MBA in Management.
After seeing my uncle, Dr. Nutt decided to travel to the Bay Area with his assistant to take blood samples of my family and interview each member. He said my family was perfect for his study since I came from a family of 13 brothers and sisters, (meaning there were many subjects). By accident, a drug called Diamox, (Acetazolamide) was found to help certain patients, and no one really knew why it worked. This drug was prescribed to my uncle, and apparently it is helping him. They prescribed the same drug to me, and it didn't seem to work. Dr Nutt told us about other families who showed signs of the same condition. In every case, it was slightly different. Dr Nutt believed that the conditions are all related, but the malformed gene may vary in different individuals.
I later traveled to the University of Health Sciences in Portland Oregon to a place that specializes in dizziness. They had new technology. It was the first time they ran certain tests on me in which the results came out positive. Some of the tests showed abnormalities in my brain stem. At last, they finally knew that something was wrong, but they weren't quite sure what. Dr Nutt knew it was hereditary and in collaboration with Dr. Stephen Gancher, wrote about the disorder in the medical journal Movement Disorders vol. 1 no 4 pp. 229-253 of 1986 entitled Autosomal Dominant EpisodicAtaxia: A Heterogeneous Syndrome.
Later, I was also sent to the research center at Stanford and also to the research center at UCLA. At UCLA, under the guidance of Dr. Robert Baloh, I had a cat scan done on me after dye was injected into my brain. What they found was startling. They found that in the part of the cerebellum which controls movement and coordination, there was abnormal activity. Again, they knew it meant something, but they did not know what. Two tests were taken; once when I was normal, and again when I was sick. I induced it for the second test. They were amazed I was able to induce it. But, I just told them, I spend so much time trying to fight it off, that I only need to stop fighting, and the attacks will occur. I also know of some activities which cause it; drinking alcoholic beverages, drinking caffeinated coffee, stress, physical exertion, and smoking. By using this formula, it was easy to induce. They still had no cure, just a lot of questions.
I still did not know what was wrong, and I was becoming very discouraged. Once again, I stopped seeing doctors, because I was having no luck. I finally finished school in accounting and continued working. By some strange miracle, I managed to work without anyone finding out about my disorder. I feared two things; losing my job, and not being able to support my family.
Since I was an accountant, I was able to hide my sickness by staying in my seat when I had an attack. To describe the feeling at work is a bit difficult. When I had an attack, I felt as if I were in a prison. I wanted to cry out, but I couldn't. I was unable to walk, and I prayed that no one would need anything from me while I was sick for fear of being discovered. My head would spin, and everything in the room would shake. I could not focus my eyes on anything. I could not even hold a pencil in my hand. My speech would also sometimes be slurred, (during the more severe attacks). During this time I never blacked out, and I always knew what was happening around me. Nausea always followed the dizziness. I cannot describe the feeling of having the urge to vomit, but unable to walk to the restroom. There were times I wish I had cancer instead of this disorder, because at least people would have heard of it. Of course, one wishes all kinds of dumb things when he doesn't know what else to do.
I went on partial disability and a few years later I had to go on full time disability. This was an extremely hard transition. Disability is something you never quite get used to. I also wonder what could I have been were it not for this disorder. But in the end, you have to use the deck you were dealt with. I put my faith in a higher power. I long to be able to go back to work and be a productive member of society. But, I know I could not handle the stress and the requirements of a job - I hear you have to remain vertical in a horizontal world - in other words, not always lying on the floor; the ataxia seems to have taken over; sometimes I feel I am losing the fight.
As I get older, the ataxia seems to progress with new symptoms. MRIs showed nothing, and the doctors concluded it was just another symptom in the on-going progression of the disorder. In addition, I have had muscle weakness in my arms and legs. When I go to the mall with my family, I sometimes may try to walk, but after a short distance, I may have to hang on to my wife for support, because I start feeling very weak. Once I start feeling weak, I also start feeling ataxic. Dr. Ricardo Maselli from U.C. Davis extracted an entire muscle from my elbow, the anconeus muscle for research. Dr Maselli wanted to test for muscle weakness. He found my nerves were not communicating correctly with my muscles.
I worked at two accounting jobs without anyone finding out, but because my symptoms were becoming very severe, I finally had to tell my last employer. To make it through the day, I needed to go to the supply room and lie down several times a day. It was the only place that was available to lie down besides my car, (I went to my car a lot too). In the early days, I was completely asymptomatic between attacks, but now even between attacks, I can feel ataxic. It is a constant everyday struggle, and the normal stress one takes for granted in today's world will, for me, exacerbate the ataxia tenfold. It is very inconsistent, and I haven’t been able to nail down why.
I wanted to become a Certified Public Accountant, but couldn't due to the hours they work. I have had to compromise my career many times.
The worst part about this is that because its so rare, no one knows what I go through. I found a support group after 20 years with the disorder. But, all of the other people in the support group have different forms of ataxia—there are so many. One ataxia can differ widely from the next. I do go through emotional ups and downs. My wife and children are the source of my strength. I was told that one out of every 150,000 people have some form of ataxia, and it is only recent that I am finally able to meet them vís a vís the internet. And, I have never met anyone personally outside of my family with episodic ataxia.
When I established my first site on the Internet, there was virtually no information on episodic ataxia, but now if you google the disorder, there is a lot of information.
This story may be verbose, but my intent is to find others out there with Episodic Ataxia and perhaps we can learn more about this disease together. Please contact me if you would like more information, or if you have episodic ataxia, maybe this year is the year for a cure.