Born with choroideremia (CHM), a rare, inherited eye disorder that causes retinal deterioration and blindness, 23-year-old Josh, a senior and resident advisor at the University of New Hampshire, faces life’s challenges with enthusiasm and shares his perspectives on growing up with a disability.
About Choroideremia (CHM)
Editor’s Note: Choroideremia (kor-oy-dur-EE-mee-uh) is an X-linked recessive retinal degenerative disease and a rare inherited genetic disorder that causes progressive loss of vision due to degeneration of the choroid (blood vessel layer of the eye) and retina (light-sensitive nerve tissue in the eye). It affects males predominantly. Choroideremia is also referred to as CHM, because it is caused by a mutation in the CHM gene.
In childhood, night blindness is the most common first symptom. As the disease progresses, there is loss of vision, frequently starting as an irregular ring that gradually expands both in toward central vision and out toward the extreme periphery.
The Choroideremia Research Foundation describes it this way:
Choroideremia is a [genetic] eye disease that causes retinal degeneration and blindness. It is X-linked recessive, which means that normally males exhibit the disease and females are carriers (on their X chromosome). In rare cases, females are also affected. Night blindness is an early symptom of choroideremia, followed by loss of peripheral vision, depth perception, and eventual blindness. Intermediate stages of the disease include loss of visual acuity and color perception.
I Was Diagnosed at Age 13 with Choroideremia
My vision problems started at birth. I had very poor eyesight and wore glasses from a very early age. When I was 13, my vision became really bad and I had to see a specialist, who made a drastic change in my prescription and diagnosed me with choroideremia (CHM). We did some family research and found that I’d inherited it from my mother. During the day she’s fine, but she has difficulty driving when it’s dark.
I was really upset when I realized my vision was going to continue to get worse. The way I handled it wasn’t the best – I was in big time denial. I didn’t tell many people that I had problems seeing. When I was younger I really didn’t need too much assistance and could “hide” it – or at least I thought I could!
I used a Kurzweil 1000TM (computer software that speaks text aloud) through my junior year at high school, I relied on books on tape, and I eventually bought JAWS (screen reading software). Ten years ago I wouldn’t have admitted this, but when I think back, I wish I’d been a bit more open with my friends. I know they wanted to help me. There were many times when I needed help and didn’t ask for it. I just wanted to be “normal” and not some kind of poster child!
To Tell or not to Tell?
I used to continually ask myself “Should I tell them …?” When you’re young, however, you’re fearful of how people will react, especially your peers. I mean, I was in my teens and I didn’t want to be seen as different. I really felt very awkward. But gradually, as I got older, I began to feel more comfortable about “me” and who I was, although that took quite a few years.
The “me” today is a completely different person, even from what I was five years ago. Back in elementary school, before I was diagnosed with CHM, I had quite a temper! I used to draw violent pictures of battle scenes, and I had to visit the school counselor once in a while. Now I realize I was probably frustrated by my eyesight problems and my efforts to cover them up.
I played sports throughout elementary school. Half the time I would screw up in a middle of a game and it was really due to my eyesight, but I didn’t question the situation. I just tried to do what everyone else was doing, although I obviously had real challenges. For many years I didn’t cope very easily.
A Turning Point
I always forced myself to find a way around obstacles in life without admitting that these difficulties were due to my eyesight. This stubbornness finally caught up with me one summer after my senior year of high school when I went camping with a group of friends. Long story short, I followed some friends into a lake, judged the distance to an island by using my hearing, went for it with no one else swimming around me – and that nearly cost me my life. From that moment on, I knew I had to deal with what was in front of me: Recognize it, accept it, and work with it. Ever since that difficult day, my life has been a breeze!
Since those early years, I’m now able to accept help when I need it. I’ve also learned that I can turn my disability around and use it in a positive way for my own benefit. Until this year, I was the only blind person on my campus at the University of New Hampshire – I was a minority of one in 10,000 18-25 year old students! I stuck out like a sore thumb! But since I started college I’ve found a lot of people tend to look towards me, not for help or guru-wisdom, but to ask my advice on everyday things. Maybe it’s because they see I’ve had to struggle with a few challenges in my own life.
I’m now registered as legally blind. I have almost no central vision and rely on my peripheral vision. My vision loss is ongoing and pretty strong and early for someone with CHM, but I found an e-mailing group for people with this disease and that’s a great support. (Please note: You can find information about this e-mail support group at the conclusion of Josh’s interview.)
A New Perspective about Disability
I learned how to handle a cane for mobility when I was 14. In the beginning, I was too stubborn to use it. It wasn’t until I started college – the first day, in fact – that I began using it on a regular basis. Then after I found other students coming to me to talk about a wide range of things, I realized there’s a way of using a disability, not only to help yourself but also to give others a different perspective on life. People may even look up to you as being inspirational.
I walked a girl home after class a few days ago and she was saying how she’d never before known anyone with a disability like mine. She saw that I was really engaged in classroom and college activities, and when I walked her home = no problem! She was obviously impressed, and that made me feel good.
So at times like that, you realize, even though you can go through crap every day of your life, you can still be inspiring to someone else. I think my early life experience with vision loss has possibly led to my being more outgoing and maybe I’ve accomplished what I’ve done largely because of my vision loss.
Life at College
I’ve been a resident advisor (RA) for two years at the University of New Hampshire in Christensen Hall. It’s a dorm that houses 500 freshmen and I help build community, act as an academic resource, and am there for the residents for advice, personal help and policy enforcement. RAs try and make the college campus a better place for all residents.
Every summer the Department of Residential Life brings together all the RAs and gives us a few weeks of training. This work has been a really big help to me. Other students know that I’m living the college life, but also know that my experiences are different from theirs and they have a glimpse into what I might be going through.
I have a friend at home, Arthur, who’s 65 years old and blind, and feels the same as I do – that were it not for our blindness, we wouldn’t be who we are today. It’s not that I wouldn’t like to have a treatment that would stop my disease. But now I know it will continue to influence me throughout my life and make me who I am. And I hope it will also contribute to making a positive difference in the lives of my friends and peers.
I’m 23 years old now and in my last (fifth) year of college. I’ll be working as an Assistant Hall Director in a dorm of 500 freshmen, where I’ll supervise a staff of 16 RAs, work with the Hall Council, and help to manage a $16,000-a-year budget. Plus I’ll soon be moving into my own apartment. I guess all that should keep me busy.
The Future Looks Bright
Next year I’ll receive my BA in Sociology with a minor in Women’s Studies, Race, Class, and Power. I plan on going to either Boston College or Boston University for a Master’s in Social Work with a focus on mental health and counseling. I feel that my most effective role as an RA has been making an impact on the residents in a positive way. Years later, many of them still keep in touch and come to visit me, so I am going to run with this ability and see if I can further help people out in the rest of the community through social work!
I really enjoy New Hampshire and have loved living at the university for the past five years. I am ready to move to the city though, and feel it will allow for me to be more independent. Life is good; my sister just got married and we had a blast!
I have recently found myself a beautiful, selfless, and patient young lady who, for some reason, seems to be attracted to me. We have been seeing each other for a while now. Hopefully, I will not mess things up. As always, I also have my amazing friends who have made my living situation so easy to deal with and I owe them so much of my happiness and confidence in life.