meaning of disability

Blurb: Once again, it's my chance to speak out about the Meaning
of Disability

Meaning of Disability

Presented to first year medical students, doctors and staff at
the Cleveland Clinic
April 9th, 2013

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 is five years older,
and Scott is four years older than me. Naturally, I was spoiled
rotten.

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 classmates were messing around, and
he got hit in the eye with a pencil. While treating him for the
injury, doctors discovered he had Retinitis Pigmentosa (RP). 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, 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, where 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, and lift me onto a potty chair.
They communicated to me by using their finger to "write" 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 have 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 a few years ago. I
hear more environmental sounds now and can usually identify what
it is. I can hear people talking but can't understand what people
are saying.

I got divorced about seven years ago. I now live in Kent in a
small apartment with my son. My parents live one mile away. I
have full custody of Joseph, who is now almost 12.

When I returned to Ohio, I began coming to the Cleveland Clinic.
Dr. Natowicz has been working hard on my case. For years, he
tested me for what felt 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 any real answers.

Then, in the summer of 2011, 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 finally got a diagnosis. I know what
is wrong with me. There are others out there with this thing. I'm
not alone.

The ironic part is that I finally got this diagnosis... And it's
called "fark." What a stupid name! I was complaining to Joseph
about this and he said, "Mom, it's a stupid disease so it
deserves a stupid name."

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 severe 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
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 finger 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 that way. 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 completely 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 much
harder. I was hit with major 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 love in writing. I'm
an active blogger on my personal site and for Kent Patch. I've
had a few poems published and participated in two poetry readings
at the KSU Wick Poetry Center. I'm a contributing author of a
book called "Deaf-Blind Reality: Living the Life." I also won
first prize in an international braille writing contest.

My goal now is to enroll in a master's in Fine Arts in Creative
Writing program at Ashland University. Then I hope to combine my
dream of being a teacher and love of writing. I want to teach
writing at the college level.

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 boyfriends.

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.

I also face communication barriers within my family. Only Joseph
and my mother know how to fingerspell. I can't communicate with
Scott or extended relatives. I have to use email or text messages
to communicate with my father. I end up feeling like an outsider
and don't enjoy family gatherings.

Life for people who are deaf-blind is often full of isolation and
loneliness. We have few options to get out and have fun. I want
to make things better, so I created the Northeast Ohio Deaf-Blind
Association. We teach workshops about how to work with people who
are deaf-blind. Then, with the help of many volunteers, we head
out into the community for a social event or gathering. So far,
NEODBA members have visited Amish country, attended the Lorain
International Festival, enjoyed a wild day at Cedar Point and had
fun in the snow at Polar Blast Snowtubing Park.

Four

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

Because my condition is genetic, I feel that much of my family is
affected. 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 want to take care of
and protect me. I want to be as independent as possible. I don't
want to be a burden or treated like a child. That sometimes
causes conflicts. It was especially difficult for them when I
decided to move into my own apartment.

Then there are my brothers. I believe Tony had PHARC, too. He
couldn't handle it. 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 five years ago. His funeral was
on what should have been his 39th birthday.

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 been worried about whether or not he inherited my
disabilities. He's almost 12 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 I want him to
have a normal life.

These are the fears that have ripped through my heart for years.
I know what my disease is now. That gives us an idea of whether
Joseph is at risk. The chance of him having PHARC is so low that
Dr. Natowicz says Joseph doesn't need to be tested. I was finally
able to tell him that he won't have my problems. Who knows what
life has in store for him? But PHARC is not part of it, and I
thank God for that every day.

Five

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 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 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.

I wrote a poem to express my feelings on this issue. I'd like to
share it with you now


Poem

I'm So Amazing!

I wake up at half past noon, and still don't want to get up. I
drag my lazy butt out of bed and enter the bathroom. I sit on
the toilet to have a nice, long pee. Then I wash my hands and
brush my teeth.
Glory be, I'm so amazing!

I find some jeans and an over-sized sweatshirt. I dress all by
myself. My shirt isn't backwards and both shoes are the same
color.
Look at me, I'm so amazing!

I stumble down the stairs without falling. I've missed
breakfast, and I don't want lunch. Eating is too much of a
chore. Why bother?

I grab my laptop and flop into my favorite recliner. The old,
green chair conforms to my body, as if to declare it's my throne.

I screw around on the internet all day long. Facebook is my
realm, and I am the queen. If only I could find a king... When
I'm bored with that, I check my email. I reply to the crap,
while leaving the important stuff for later.
Glory be, I'm so amazing!

At 7:00, I realize I'm starving. What a shock! I use my advanced
culinary skills to make myself a bowl of Lucky Charms. I spill
the milk and manage not to cry. The cereal hates me. Each
spoonful is milk and plain pieces that taste like cardboard.
Where are the blue moons, red balloons and rainbow pots of gold?

On the way back to my recliner, I trip over the dog. My can of
Dr. Pepper flies across the room. I rescue the can and let the
dog lick up the mess. That's why she has such a bubbly
personality.

My friend comes over to shoot the breeze. She tells me about the
real world. I gossip about what I read on Facebook. Sarah found
out her roommate has been sleeping with her boyfriend. She
tossed his stuff into the pond and poured a jar of pickles over
Amy's bed. Isn't that what life's all about?
Look at me, I'm so amazing!

Before she leaves, she tells me I'm inspirational. I just roll
my eyes. Yeah, I'm super duper and absolutely wonderful. My
chair thinks so, too.
Glory be, I'm so amazing!

Six

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. But like everyone else, I still
have 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. Some people
assume I have cognitive problems. Give me an interpreter, give me
some extra time and I'll show you there's an awesome 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.

Seven

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" people 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 leg 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 the Hattie
Larlham Foundation. I'm the co-founder and president of the
Northeast Ohio Deaf-Blind Association. 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.


Eight

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 known conditions.
They may only affect 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.


Note: Are you looking for more information about PHARC? Would you
like to make contact with other people who have the disease? If
so, you are welcome to join my PHARC group on Facebook. Simply
search for "pharc support." It is a closed group, so I will need
to approve your request to join.