Meaning of Disability

Two years ago, my genetic doctor asked me to participate in a
presentation at the Cleveland Clinic Medical School. The session
was titled, "Meaning of Disability." It must have gone well
because he asked me to do it again As before, I typed up the
answers to the questions as a way to prepare. They are similar t
last time, but not exactly the same. That's because it's been
two years, and I'm a little different now.

Meaning of Disability

November 8th, 2011

One
Tell us about yourself and your family

I was born with no disabilities. There was no family history of
disabilities and no hint of what was to come. I was the youngest
of three children and the only girl. Tony was five years older
than me. Scott is four years older. I was the typical spoiled
little girl.

I had a good, normal childhood. We lived in Kent, in a nice
neighborhood, right beside an elementary school.

"Normal" began to crumble away when I was in first grade and
Tony was in sixth grade. Some class mates were messing around,
and he got hit in the eye with a pencil. While treating him
for the injury, the doctors discovered he had Retinitis
Pigmentosa. He was gradually losing his peripheral vision and
could not se in the dark.

I was brought to the Cleveland Clinic to be tested as well. It
was a long and scary day. They did all sorts of weird tests.
The doctors decided I didn't have RP but might be a carrier.

When I was 13, I began losing my hearing. Since Tony had RP and
I was hard-of-hearing, the doctors said I must have Usher
Syndrome. It was assumed that I would lose my vision, too.

They were partly right. At 16, I was diagnosed with RP. But
genetic testing would later rule out Usher Syndrome in my family.
It was baffling that Tony had RP and normal hearing, but I had
both RP and hearing loss.

At that point, my central vision was still good, and I could
understand speech by combining what I heard with my cochlear
implant and the visual cues of lip reading. I went on to college
and graduated summa cum laude with a triple certification in
special education. I moved to Maryland, I started teaching,
got married, bought a house and had a baby.

My son, Joseph, is the most precious thing in my life. When he
was six months old, I suddenly became very sick. We had no idea
what was going on. I rapidly because totally deaf and blind. I
lost feeling and use of my hands, feet and legs. I couldn't
walk. People had to feed me, dress me, lift me onto a potty
chair. They communicated to me by printing letters on my face.
And still, the doctors could not say what was wrong with me.

As time passed, I got a little better. I regained feeling and
use of my hands and began learning tactile sign language and
braille. My legs regained some strength, but I still have
trouble walk and no feeling in my feet. My vision did not
improve. I am totally blind. I do not even see colors, shapes
or light. Without the cues of lip reading, I can no longer
understand speech. I did get a second cochlear implant last
year. I hear more environmental sounds now and can identify
the direction and what's causing the sound. I can hear people
talking but can't understand what they are saying.

I got divorced about five years ago. I now live in Kent with my
parents, in the same house that I grew up in. I have custody of
Joseph, who is now 10-years-old. He goes to the same elementary
school near our house.

That's when I began coming to the Cleveland Clinic. Dr. Natowicz
has been working hard on my case. For five years, he's tested
me for what feels like a million different conditions. My
concern was that Joseph might have inherited my disease. I
needed to know what I had so he could be test and get early
treatment if, needed. I thought we'd never get a real answer.

Then, just about five months ago, a test came back positive.
My DNA shows a genetic mutation that has only recently been
discovered. The disorder is known as PHARC. (Polyneuropathy,
Hearing loss, Ataxia, Retinitis Pigmentosa and Cataract. After
25 years of bewilderment and search, I can finally say what's
wrong with me. I know who the enemy is. There are other people
out there who have this thing. I'm not alone. I read a few
articles about PHARC that talked about case histories of people
with the genetic mutation. It was like reading my own story.
It's still so mind boggling and amazing. I know what caused my
disabilities. There is a reason and explanation now.

Two
When you first encountered your disability, how did you think it
would impact on your life? What did you know/believe about
disability before you first experienced any type of disability?
What was the basis for your knowledge/beliefs? What, if anything,
do you wish then that you now know?

I was exposed to people with disabilities early on. All the
children with any type of disability in the region, were bussed
in to my elementary school. We had special classes for students
who were deaf, learning disabled, had attention or behavior
problems and for those with serious developmental disabilities.
They weren't in my classes, but they were there at the school.
I saw them. I also volunteered to help in some of those
special classes.

Of course, there was also my brother Tony, who was partially
blind. He didn't look blind to me. He didn't use a cane, and
he could read print and play soccer. I don't think I really
understood about his vision loss until I began to experience the
same thing.

I was a teenager when I began having trouble with my hearing
and vision. I felt like the world was over. It was very hard
to deal with, especially in high school.

For years, my biggest fear was of becoming totally deaf and
blind. I'd think of Helen Keller in "The Miracle Working." She
overcame so much, but I didn't think I could survive if I had to
live like her.

A big impact about being totally deaf-blind came from a woman I
met on a hearing loss bulletin board. She'd type just a
sentence or two with so many typos, I could barely figure out
what she was saying. One day she told the story about going to a
doctor's appointment. She was there but everyone talked around
her. She had no clue what was going on, and didn't seem
bothered by it. After the appointment, the doctor used his
fingers to print "hi" on her palm. She was so excited that a
doctor actually talked to her.

I thought, "no way, I could never exist like that." That
stuck with me. It was all I could think about when I did become
completely deaf-blind. I swore to myself that I would get
something out of life. I just could not be like that poor woman
I met online.

Three
How has disability impacted your professional aspirations?

In college, I was so career focused. I wanted to be a special
education teacher. My dream was to work with children with
profound developmental disabilities.

I excelled in college, but out in the real world, it was so much
harder. I was hit with severe discrimination at both jobs I
tried. The first time, I resigned. The second time, I planned
to fight and was getting ready to contact a disability rights
attorney. That's when I became sick, and my disabilities
worsened. I have not work since then.

I still haven't given up. I've found a new dream. I want to be
a writer. I'm an active blogger. I've been keeping a journal
about my son's daily life since he was three. I've started
writing poetry. I have ideas for books. I feel so passionate
about writing. It also seems like something I could succeed in,
despite my disabilities.

Four
In what ways has your disability impacted on your friendship and
social networks and your family relations?

My disabilities have always made it hard for me to have a decent
social life. When I began losing my hearing, I lost all my
friends. I guess I became too different. I made new friends
with the nerds and band geeks. Most of those relationships were
not strong. We never got together outside of school. I
couldn't talk to them on the phone. I knew nothing about
current music. I didn't get invited to parties. I had no boy
friends.

I think communication was the main problem. I couldn't hear and
didn't understand most of what was being said around me. Plus, I
couldn't see in the dark, so I didn't like to go out at night.

It's different now. First of all, technology has connected me to
a whole new world of people. I have so many friends online.
Some are deaf-blind, some are disabled in other ways and some
have no disabilities. Communication is no longer an issue. I
don't need to hear. I only have to read braille at my own pace
and on my own time. Disabilities don't matter with online
friends.

I've also started making some local friends, mostly where I
missed them earlier in life - at college. I'm now back at Kent
State University taking classes as a post-graduate student. I
have no major. I'm doing this for experience and to keep my
brain active and busy. I started with ASL classes to improve my
communication skills. I made many friends in those classes.
Most of them are older and have children, like me. We actually
spend time together, go out, do new things. Communication isn't
a barrier because they know sign language. So even though my
disabilities are worse now, my social life is better.

The impact on my family has been harder. Naturally, my parents
feel guilty. It has to be hard to watch your child struggle and
suffer so much. This isn't what they wanted for me.

My brother Tony couldn't handle it. I assume he had a milder
case of PHARC. At 38, he could still read print. He used a
white scanning cane. He had trouble with depression. Even
though his hearing was normal and he could walk just fine, he
seemed to have a much harder time accepting his limitations.
He finally gave up. Tony committed suicide four years ago. His
funeral was on what should have been his 39th birthday.

Five
In what ways has your disability impacted your immediate family
members? Have there been any explicitly medical impacts on any of
your family members?

Since we now know my condition is genetic, I feel that much of
my family is affected by this. Of course, my parents were
carriers. There was no way they could have know. It was one of
those nasty time bombs that everyone carries in their DNA. My
parents feel so guilty. They want to take care of me now and
protect me. I want to be as independent as possible. I don't
want to be treated as a child. That sometimes causes conflicts.

Then there are my brothers. I believe Tony had PHARC, too. I
wonder if he understood we had the same disability. Maybe he
was so afraid of ending up like me. Sometimes I'm tormented by
this idea. Is that why he decided to kill himself?

My other brother, Scott, does not have any disabilities. That
doesn't mean he enjoys a free and easy life. I think he's
been dealing with survivor's guilt, if that makes any sense. He
got lucky. His brother and sister did not.

Scott doesn't have any children. If he plans to have kids, or
even if my cousins want to have children, there is the risk of
passing on the gene mutation. Any of them could be carriers.
They have to decide if it's worth the risk. Now that we know
what to look for, they can get tested and decide what to do from
there.

For me, the major medical implication has to do with Joseph.
I've worried for years about whether or not he inherited my
disabilities. He's ten now, and seems fine. I was normal at his
age. That doesn't mean anything.

I'm scared. I don't want him to suffer the way I did. I would
still love him if he started having problems, but want him to
have a happy and normal life. If he does have the condition, I
want to find out as soon as possible so he can begin treatment to
minimize the damage.

I'm hoping that he can soon be tested for PHARC. I dream of the
day when I can "look" him in the eye and say, "Joseph, you don't
have my disease.

Six
The media sometimes portray individuals with disabilities or
parents of children with disabilities as heroic. What are your
thoughts on this?

I think it's a necessary evil. Those kinds of stories are the
first step toward awareness. It opens people up to new ideas
about what life is like for someone with a disability.

People don't want to read negative stories about how hard it
really is for us. They want the positive... the miracles...
And then they feel so amazed and inspired by what we can do, and
what we overcome.

I actually cringe inside when people tell me I'm so
inspirational. I just smile and say, "Thank you." I'm not
trying to be a hero. I'm just living my life. This isn't what
I expected, but it's my life and I must live it. When you
consider it like that, it's not so inspiring. It's the same
thing everyone else does.

Seven
Has having a disability changed who you are? Has it changed who
other people think you are?

In some ways, I think having a disability has changed who I am.
What I've gone through has made me stronger and more adaptable.
I'm not the person I wanted to be. I'm not doing what I planned
to do. So much has changed in my life, but I'm still me. I just
do things in a different way. Now I have new dreams and plans
for a happy life.

I do believe that other people think I'm different now. Some
people are overcome by pity. They can only see the disabilities.
I know I look pitiful, but I don't want anyone's pity.

Having a communication disorder makes it even worse. People
assume I must be retarded. Give me an interpreter, give me some
extra time and I'll show you there's an amazing brain inside
this body.

This is part of why I love writing my blog. I can reach out to
people, tell them about my life and all the things I can do. I
write about my feelings -- the good and bad... The frustration...
the triumphs... the love and happiness. If you read my blog
long enough, you'll begin to realize that I'm really just like
everyone else.

Eight
Based on your encounters with the medical system, what would you
want medical students to learn in their medical school curricula
that may not be adequately taught at present?

I want medical students to learn how to "see" a person with
disabilities. For example, I walk into an exam room. The doctor
looks at me and sees a deaf and blind woman who can't walk well.
He sees my braces and crutch and cochlear implants. Then he
reads a few notes in my chart and thinks he knows me.

Nope! That's not who I am. The doctor needs to look past the
disabilities and find the real person within. I'm a mother and
a writer... a student at Kent state. I volunteer at Hattie
Larlham Foundation. I'm the co-founder and leader of a new
deaf-blind social organization. I drink Dr. Pepper and read
vampire novels. I'm learning to read braille music so I can play
my saxophone again. I'm the world's coolest deaf-blind soprano
saxophonist. My big hit is "Ring Around the Rosey." This is
the real person. This is who I am. You need to look past the
disabilities. Take the time to talk to your patients. Find out
who they really are and what they like and how they feel.

Also, don't assume you know everything about me because you
read my file. That might tell you about my medical history, but
it doesn't tell you who I am.

Finally, understand that you aren't an expert about my
disabilities. You might know about vision loss or neuropathy or
muscular problems. That doesn't make you an expert about me.
I'm the expert, because I'm the one living with these
disabilities. If we work together, you may be able to help me.
But if you act like you know it all, nothing will be
accomplished.

Nine
Based on your encounters with the medical system, what
recommendations wold you make regarding needed health policy
research and/or research regarding clinical practice?

My main concern is with research. That's going to be the key to
helping patients with disabilities. Every doctor would love to
be the one who cures cancer or AIDS or Diabetes. Those are big
diseases and do need major research. That should continue.

At the same time, we need research on the less know conditions.
They may only effect a relatively small population of people.
But they are still just as important to the people who have
them. Doctors can be heroes by finding ways to treat these rare
disorders.

Look at my disease. There's hardly any information available
about PHARC. The gene mutation has been found. But what does
that mean? That identification only gives a name to my problems.
It's research that will some day help me or help children who
have the same problem. Research might prevent some other person
from ending up like me. As a doctor, you have that power. So
please don't give up on research.