In the midst of the buzz about Rare Disease Day throughout February, I came across JC Colyer on Twitter. He has been diagnosed with Ataxia.  Curious to learn about this rare condition, I asked him if he would like to talk about Ataxia so that we can learn about it. Graciously, he agreed to contribute the post below.  Not only did he provide details about Ataxia, but he provided a key ingredient to coping with any major challenges in life: adapting your lifestyle!  Thank you, JC!

 

Rare Disease Awareness Day was held worldwide on February 29 this year, an effort by NORD [National Organization for Rare Disorders] to educate the general public about rare diseases.

NORD’s MISSION

“NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.”

 

What is the purpose of increasing awareness?

  1. Learn about symptoms
  2. Familiarize medical community with disease
  3. Recognize symptoms early so diagnosis can be made & treatment can begin
  4. Raise funds for / encourage research to find successful treatments & cure
  5. Develop efficient medications for that disease

 

 

Adapting your lifestyle when there is no other choice: “Diagnosis Ataxia”

by JC Colyer

 

My name is John Colyer, since my early teens I’ve had the nickname, “J.C.”.

I’m about to turn 50, and would have never expected to be in the situation I am in:  for the last 10 yrs. I’ve had a slow but steady downfall caused by a rare disease known as “Cerebellar Ataxia”.  It causes cerebellar atrophy, which means the part of my brain, called the cerebellum, is shrinking. I’ve had 3 MRI’s, multiple genetic and non-genetic blood tests and have seen numerous Dr’s and Specialists. I didn’t recognize a problem till friends and co- workers brought it to my attention. Ataxia causes your balance, coordination and speech to deteriorate. It makes you look and sound drunk, which is ok to people when you’re young, not so much in your 40′s. I had a fall in Jan. 2010 and broke my left knee cap and had 2 surgeries to repair it. While recovering in bed, I found BEN’SFRIENDS.ORG, a support network for people with rare diseases. I joined their Ataxia support sites,

American Ataxia Networking (http://americanataxianetworking.ning.com/ ) and

Living with Ataxia (http://www.livingwithataxia.org/ ).

I had never had contact with another person with Ataxia before then; it was the first time I felt it was real and not in my imagination. It became a life line for me, a safe place to vent with others who understood my struggles. I use a Quad cane for stability when I walk, and stress and fatigue magnify my symptoms. I moderate a few sites now with Ben’s Friends and find helping others helps me. I struggle with depression and take medication to help me. An internet connection is the same for a disabled person as an able person. If I didn’t tell you I was disabled online, you wouldn’t realize [it]. I’ve learned I must just Keep Trying and Stay Strong!

 

 

Was connecting with other Ataxia patients what made you decide to go with the flow instead of fighting Ataxia any longer? Do you feel that knowing that others are somehow managing gave you the motivation to create a new life for yourself?

Being able to connect with other Ataxians was a big thing, there is not one Ataxia support group in the state of New Jersey. Face to Face is always the best, but I am grateful to Ben’s Friends. My anger was bad, I also went to group sessions at a center for vocational rehabilitation for the developmental and physically disabled and learning how to cope from others who have been disabled longer then me calmed my anger. I helped them also, I made friends. It made me want to keep trying.

 

• Do you have support at home from family or friends? How do the help you? 

I’ve lived in a 1 room w/a bathroom apartment on the Jersey Shore for 12 yrs., it is perfect for me and in my budget. Family and Friends care but have their own lives and their own children. They care but I feel how uncomfortable my disability makes them. I know they would be there if I need them. I’ve alway’s been a loner.

 

• Does your health insurance plan cover your treatments, medications, supplies? Do you get benefits from Social Security or Medicare?

I’m on Social Security Disability, I so appreciate the safety nets we have. I’m on PAAD, Prescription Assistance for the Aged and Disabled. I begin Medicare in July, had to wait 2 yrs.; I paid for a basic plan for those 2 yrs., it is not easy making ends meet. It panicked me when I first found out the amount I receive , I made a lot of adjustments, physically and financially but everyone has their struggles.

 

• Did doctors figure out what you had after looking at your test results? Who figured out you had Ataxia? What treatment did he/she recommend? 

The MRI showed Cerebellar Atrophy which causes Ataxia, genetic blood test was negative, but there are genes that haven’t been discovered. No medication for Ataxia; anti-anxiety, anti-depressants are prescribed. Lifestyle and diet changes are important. I follow Gluten Free, Vegetarian diet, no alcohol and low sugar and no white flour or processed foods. It  sounds harder than it is :)  Fatigue is a big problem; I put a lot of energy in things able people don’t have to think of.

 

• Are you in pain?

I have my pain in my hands at night, I stay away from prescription pain killers even though Dr. offered them. I fell in January 2010 and broke my left knee cap. I had 2 surgeries to repair it. During my recovery in bed I found Ben’s Friends. I was in the darkest place in my life; guess that’s what they call the crossroads. I’m still and always will be a work in progress and I’ll keep trying.

 

NORD [National Organization for Rare Disorders]

EURORDIS [Rare Diseases Europe]

RARE DISEASE DAY USA

American Ataxia Networking

Living with Ataxia

Ben’s Friends