This is a guest post from Mark who blogs over at The Retirement Spot. In this post, we will continue our series on Patient Perspectives. Mark has had quite the journey and wants to remind you why you started it in the first place and the role financial independence in producing a life well lived. Take it away, Mark!
I have a rare progressive neurological disorder called Episodic Ataxia type 2, (EA 2). This post is about that journey – a journey not of my choosing – like so many others with chronic conditions have had to take. This is a journey that both doctors and patients take together. My goals are twofold
1) to help doctors not forget why they began the journey with us
2) for the patient to understand why he began the journey in the first place
The Journey begins
I was 14 and in eighth grade when I had my first symptom. In High School, after physical education, (PE), I would feel dizzy. Nausea and vomiting soon followed. This became a daily occurrence. Any physical exertion would exacerbate the condition.
I had English fifth period right after PE. I remember this so well because I always had to lay my head down on the desk. The High School nurse’s office became my second home. I would always have to leave English and trek down there. English was not my favorite subject so it didn’t matter to me. At one point, while visiting the nurse, the nurse questioned me, “Do you smoke marijuana?” I was stunned.
My father took me to Kaiser Hospital. The doctors suggested it was all in my head. My dad, I later found out while combing through my hospital records many years later, discussed with the physician about my health,
“Has your son taken any hallucinogens? the doctor asked.
“Well, he has been a been a bit rebellious lately,” my dad responded.
So this was the conclusion-It was either in my head or I was on drugs. The doctors suggested I see a psychiatrist but my father didn’t believe in psychiatrists. I stopped seeing doctors because they were of no help.
Note to medical staff – If you can’t find the problem, it is not wrong to say, “I don’t know.”
It doesn’t always mean it’s in your head.
Social Security Disability Insurance (SSDI): Part 1
At the age of 23, I began to work as an Orderly at San José hospital in Santa Clara, California as a way to pay for college. One summer day at work, my legs gave out while transporting a patient on a gurney. I felt the gurney leave my hands, and the patient went careening around the corner and crashed into the double doors.
That incident landed me in the emergency department. My legs gave out again a week later, and I knew I had to quit.
While pursuing a degree, the hospital director set me up with an interview as an accountant at the hospital but I was too green, and I hadn’t yet finished school so it was a “no.”
I applied for Social Security Disability. SSDI denied me. At the time, I did not realize it, but that denial was a gift from the Federal government. Who wants to be on Social Security Disability at the age of 24? It was 18 years later when I applied again.
I went on short-term disability for six months and poverty didn’t sound good to me. Nor did it sound good to me to have my wife be the sole provider of the family. So I pushed myself forward. I went to work as a bookkeeper at Runner’s World Magazine, and I continued my studies at San Jose State University.
It was becoming very difficult to continue hiding the disorder, so once again, I began to seek the advice of doctors. We went to a well known academic center on the west coast. It was well known for its research. I thought if anyone could figure it out, they could. Once again, the doctor suggested I see a psychiatrist. I stood up and walked out never to return.
I felt alone in this world. No one ever heard of the disorder.
The diagnosis came at about age 25. A doctor in Oregon, a state away, Dr. John Nutt (no pun intended) observed the same symptoms in my uncle that he observed in me – a major symptom of EA2 being nystagmus.
I flew to the Oregon Health Science University. Dr. Nutt ran several tests and then invited about seven of his colleagues into the room to observe my eyes. I was always the guinea pig for students but this time it didn’t matter – 11 years after my first symptom – he had a diagnosis, Episodic Ataxia type 2.
It was the first time a test showed positive. The weight of the world was lifted off my shoulders when I heard the words of Dr. Nutt, “Well, we know it’s not in your head.” Dr. Nutt flew to San Jose to test all members of my family, 13 siblings and both parents.
It would be many years before research scientists discovered the chromosome and the mutated gene. However, the one prominent symptom was nystagmus. Dr Nutt drew blood and checked for nystagmus in each sibling.
We ended up in the first of many research papers authored by Dr. Nutt and several of his colleagues. He was able to determine which family members carried the gene.
There were no studies on Episodic Ataxia, but the doctors at UCLA squeezed me into a study on Huntington’s disease. After injecting a dye in my cerebellum, they observed abnormal activity using a cat scan during an episode.
I was there overnight because the intent was to observe me symptomatic and asymptomatic. Inducing an attack for the doctors was easy since most of my time was spent preventing attacks. I hated to do it because the attacks are frightening.
I also participated in several other studies, including one at the University of Davis where they removed the anconeus muscle to test for muscle weakness associated with the ataxia. The doctors told me the anconeus muscle had no purpose so it was why they could remove the entire muscle.
My First Side Hustle: A Website
I wanted to find out if others had EA2. I couldn’t be the only one. So, I made a website. With the internet being new, I learned HTML and designed a website using Hotdog, a first of its kind in website design. At the time, type in Episodic Ataxia in a search engine, and my site was all you saw.
Today, a hundred sites pop up. The first response I received was from someone from the UK with the same identical experiences. More people with the disorder began to contact me. The first triumph was diagnosis, and now the second triumph, I was not alone – there were others.
The Ataxia Center at UCLA
I heard there was an actual ataxia center at UCLA where I met several doctors, including Dr. Joanne Jen.
Dr Jen was studying Episodic Ataxia under the auspices of another physician through a government research grant. I didn’t know it at the time, but this began a 20 year relationship with Dr. Jen.
Like Dr. Nutt years before, Dr. Jen traveled several times to my home to study my family.
Before my website, there was no other person I knew with my condition. Finally, Dr. Jen, the foremost expert in Episodic Ataxia, was actually researching it.
Once, I asked her how rare my disorder was, she responded by saying, “Put it this way, anyone researching this disorder knows your case.” After years of research, scientists discovered it was on chromosome 23 and – years after that – they located the gene CACNA1A.
The drug of choice to alleviate the symptoms for EA2 is acetazolamide (Diamox). 4-AP, available at compound pharmacies, has also been found effective and so has Flunarizine (not available in the United States.)
There is wide variability in these drugs. None of them had much effect on me.
Dr. Joanne Jen knew of my website. For two decades, she was there along with me fighting the battle. I had never met a more compassionate person. Her career focused on Episodic Ataxia research. I referred many patients to her, and even found a neurologist for someone in Spain with Dr. Jen’s help.
After receiving another research grant, she asked if I wanted to be a patient advocate for CINCH, the Consortium for Clinical Investigations of Neurological Channelopathies. The study involved three rare disorders including EA2.
This required traveling to UCLA and Rochester. I hesitated because flying had become a challenge too, but with Joanne’s coaxing, I flew to UCLA. A grant received to study three rare disorders under CINCH paid for the flight. I would make two more trips to the University of Rochester Medical Center also.
What a great experience! I was among the cream of the crop of the medical community, biologists, neurologists, research scientists and the list goes on.
At dinner, we talked genetics, careers, science, rare diseases and politics. I took copious notes during the presentations because half the time the medical vernacular was unfamiliar to me. Dr Jen sat next to me as biologists, researchers, and others spoke. She sometimes explained to me some of what I didn’t understand.
The consortium wanted to reach more than just English speakers, and I speak Spanish. So, I volunteered to translate the CINCH website into Spanish.
Quality of life
The focus I gave at the Consortium centered around quality of life. I spoke in front of all walks of life from the Medical establishment from the United States, France and Britain. This was my opportunity to speak for all patients of a rare disorder called Episodic Ataxia.
If I could help doctors understand what they are doing and why they are doing it then I felt that I accomplished my mission. We are not guinea pigs to be observed for the next research paper. We are humans with the same goals and desires as everyone else.
If I could help patients understand why they started this journey in the first place -a journey not of their choosing – then I still accomplished my mission.
I have often asked the proverbial question everyone asks with a chronic disease. Why me?
I will never know the answer to that question. Episodic Ataxia is a debilitating disorder and it robs you of your health, your ability to work, and your ability to drive. I have to use every ounce of energy to accomplish what others take for granted. The fear of an attack is a struggle every single day.
My first symptom was at the age of 14 and the progression has been slow and steady. I am 64 now, and I think of what I was able to accomplish. I was still able to graduate high school, obtain a Bachelors and a Masters, learn two foreign languages, travel Europe, travel Mexico, marry in Nicaragua, and have children and grand children. I worked with some incredible people in my career with whom I still maintain contact.
A change of course
My disability required me to change course. I was able to stay at home with our adopted child and help her in her studies, and now she is an RN. My son benefited too from me staying home. He is happily married with two children.
My wife has been with me all the way. She will retire soon, and I know I have limitations but my hope is that I can still do many of the desires we planned in retirement. I do not know how my disability will continue to progress, but I do know that it will not stop me. We write about money, investments and the like. But none of that means much without a life well-lived.
The Physician Philosopher: Thanks for your open and honest post about your journey, Mark. You truly serve as an inspiration in several ways. While advocating for yourself, you found some good doctors that thought outside of the box to figure out your diagnosis.
Your flexibility and willingness to go get more education and to pick up jobs where you could provided you some freedom. And the last point you made there is the take home point for me: “We write about money… but none of that means much without a life well-lived.” I couldn’t say it better myself!