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 see 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 became 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 bused 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 Worker."  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   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 Snow Tubing 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 would 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.