This week, we’re hearing from Jan Pantoja who has Ataxia with Vitamin E Deficiency. Read more below!
Hi. My name is Jan Pantoja. I was diagnosed at 53. I was diagnosed with AVED (Ataxia with Vitamin E Deficiency).
Before Ataxia, from what I remember, was that I used to play volleyball when I was 12 years old. I couldn’t do all the exercises. I couldn’t run the stairs up and down. Each time I tried to hit the ball, I lost my balance.
I grew up not knowing that I had Ataxia. Over the years, it was getting worse and worse.
My mother took me to a paediatrician. He said that I needed some vitamins. But he didn’t test my vitamin levels. He didn’t specify which vitamin, so my mother bought me a multi-vitamin. I grew up taking multi-vitamins.
When I went to college, I was more independent. It was difficult for me to carry the books and write all the notes from my professors’ lectures.
So I went to a neurologist. He did a range of tests. Everything came back negative. But I did have neuropathy. I was not using crutches at the time.
But then, when I finished my Bachelor’s Degree, I started using one crutch. The one that you put in your hand (forearm crutches). Years passed and then I was using two of them.
I was living in Puerto Rico. In 1993, I moved to Florida. I got married in 1995.
In Florida, I saw a neurologist who told me that I had a spinocerebellar degeneration. He told me to take a pill for the pain and nothing else. So, I stuck with that program for about 15 years.
My previous neurologist retired and I got a new neurologist. He said that it’s been over 15 years and we should do an MRI of the brain. Because I was supposed to have spinocerebellar degeneration, it should have been degenerating. He did the test and the results came back normal. He told me that I did not have a spinocerebellar degeneration.
My neurologist kept changing due to my changing insurance coverage changing every year. They did not always ask for insurance, so for two years, I did not have insurance coverage.
In 2008 I decided to take my daughter for an evaluation by a neurologist. Her doctor told me that he knew what I had as I had brought all my medical records.
He said that he could not officially diagnose me, but he used to be a professor at USF. He told me that there are people at USF who research Ataxia and that I should go there.
With my insurance status, I have been able to book an appointment at USF. They’ve always denied me one.
My daughter’s doctor offered to do the genetic test on her (as she is on my husband’s insurance). The result showed that she is a carrier for AVED. Her doctor told me that’s what I have. He told me to tell my primary care doctor to check my vitamin E levels every 6 months.
I started taking 3000 units of Vitamin E to keep my levels up. They didn’t go up.
Without insurance, I couldn’t get diagnosed. But I know from my daughter’s test that I have a vitamin E deficiency.
Now, I’m painting more than did before. I paint rocks to raise awareness of Ataxia. I give them to my friends and family. They take them all over the place. I wear Ataxia awareness shirts.
I spend more time sitting down so I paint more. Before, I could go out. Now, I can hardly go walk. Unless I use a scooter outside the house, I hardly go out. I stay in my house painting or I go to my mom’s house (she lives across the street).
The activities are less and less. It’s hard, but you must struggle every day to live the best you can.
My disability has taught me a lot because when I was young, I could do things, but I didn’t take advantage of them. I could have worked, but I was busy studying.
I would advise people to do what they can now, don’t wait for the last minute. Never give up. Just keep fighting.
Thanks for sharing your story, Jan.
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