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Sunday, October 21, 2012

My pharc story

Blurb: Faced with two disabled children and no clue what was
wrong, my family endured endless challenges. Here is the story of
my disability and how it affected us all.

It started when my older brother Tony was diagnosed with
Retinitis Pigmentosa (RP) at age 11. I was 7 then. I started
losing my hearing at age 13. The audiologists said the loss would
not get any worse and that hearing aids would help. They were
wrong about both. By 16, I was profoundly deaf. Hearing aids just
distorted sound even more. No one would believe me. They said I
was "being a teenager" and didn't want to look different from
everyone else.

Finally someone listened to me (and she's still my audi today.) I
got my first cochlear implant when it was still experimental for
children. It was a success. With the visual cues of lip reading
and what I heard with my CI, I could understand speech in good
listening environments.
Still at age 16, I was diagnosed with RP. It was bizarre because
Tony's hearing was perfectly normal. They said I had Usher
Syndrome, and he had RP. Those diseases aren't carried on the
same gene. It made no sense.

He also had issues with cataracts. He had many surgeries and
complications, which led to more surgeries.

I was diagnosed with cataracts when I was 23. It would be a few
years after that before I had them removed. I didn't have
problems like Tony.

Around this time, my family participated in an Usher Syndrome
study. We found out that I did not have that disease. So my
diagnosis became RP with unknown cause of hearing loss.

I had been living in Ohio with my family. After I graduated from
college, I moved to Maryland to be with my boyfriend. We later
married and had a child.

I was 28 when my condition got much, much worse. The doctors
think it was child birth that set things off. I'm not so sure. I
didn't show any symptoms until the baby was six months old. I
believe it was just intensive stress that caused the flare-up. I
was taking care of a baby with no support from my husband or
local in-laws. I went back to work after maternity leave to find
a whole new management and was hit by harsh discrimination. I was
actually planning on filing a law suit. Also, my husband's
abusive behavior was starting to get worse. For the first time, I
realized that these "fluke" events were something more serious.
The stress was so bad that I wasn't eating well. I lost 25 pounds
in one month.

Another weird thing was that my father-in-law was my primary care
physician. I don't know how that happened. I went to his office,
but always saw a different doctor. When I started getting sick,
he took over my case. This turned out to be very bad.

Within a few weeks, I lost all my vision and hearing, couldn't
walk or even crawl, had no feeling in my feet, legs or hands and
was in constant pain. It was like pins and needles, but it hurt
so bad.

My FIL first said I had postpartum depression and hysterical
blindness. Can you imagine that?

I was living in a state of major medical neglect. It was a month
before they took me to the hospital. By this time, people had to
print the outline of letters on my face to communicate with me. I
was totally trapped in a body screaming with pain.

Georgetown University tested me for a genetic condition called
Refsum disease. The results cam back negative. I was diagnosed
with Guillai-Barre Syndrome (GBS,) a virus that attacks the
nerves. They said I was "lucky" because GBS usually affects the
lungs. My breathing was fine. That's because I didn't have GBS.
It would be a long time before we knew that, however.

They sent me home, leaving my family to care for me. I couldn't
do anything on my own. They had to dress me, bath me, feed me and
put me on a potty chair. My 7 month old baby could do more than
me. He liked to help take care of me. That part was kind of heart
warming.

When my mother came from Ohio to help, everything was wonderful.
When it was my husband's turn, life was a nightmare. The abuse
got much worse after my illness. It's like he took all his anger
out on me.

Physical therapy help me regain some strength. My feet are still
mostly paralyzed and numb. I can walk, but not well. I wear leg
braces and use a forearm crutch.

My hearing returned to what it was like before. I was thankful my
CI worked again, but my eyes completely shut down. I could see
nothing, not even lights or shapes. Without lip reading, I could
no longer understand speech. We continued "print-on-face" for two
years.

Over time, the horrible pain lessened some, but it never went
away completely. I still have that tingling sensation in my feet.
Medication helps control it.


Luckily, my sense of touch returned. I was once again able to
care for myself and my son. I began learning tactile
fingerspelling. It was a big step up from printing on my face.
Now I know tactile sign language. I still need constant practice
to improve my skills.

Like I said, I lived in medical neglect. Four year passed, and my
Fil did nothing to follow-up on my case. He didn't even treat me
for thyroid disease, which was something that came up during the
original blood screening. The few things he did was home care --
off the charts and no records.

Finally, it seemed like I was having a relapse. I was weak, fell
often and needed to crawl again. My Fil sent me to a couple of
doctors and also started me on thyroid medication.

The ironic part is that I knew it wasn't a relapse. I had known
for 4 months what was going on. I couldn't convince anyone to
help me until I finally collapsed.

What was wrong was that I had been bitten by a spider, and it was
infected. Once I was treated for that, I began to feel better. My
neurologist, however, didn't pay attention to what I had to say.
He decided I had a chronic type of GBS and needed serious
treatment. He started me on IVIG. This is medicine to help the
immune immune system in patients with Lupus, AIDS and other
diseases. Sometimes it helped people with GBS.

The doctor had me on a high dose. The treatments took place once
a month, for five days in a row. They were rough and made me very
sick. They were also useless, but I wouldn't find out about that
for awhile.

It wasn't completely for nothing. During this time period, I
learned I couldn't trust or rely on my husband to take care of me
or our son. It was an eye-opening kind of discovery. For this
reason and more, I got a divorce and moved back to Ohio to live
with my family. Despite my disabilities, I won custody of my son.
That was the most triumphant moment of my life.

We still believed I had GBS and needed IVIG. In order to
continue, I needed an Ohio doctor to prescribe the treatments. My
parents took me to the Cleveland Clinic Foundation. They did many
nasty, painful tests. The neurologist there also had my records
from Maryland. He said there was no way I had GBS and that IVIG
would not help my type of nerve damage.

So, now what? I saw different doctors in different departments.
It was believed I had some kind of Mitochondrial disorder. My
case was sent to Dr. Marvin Natowicz, MD/PhD. He's the doctor who
gets genetic cases that no one else can figure out. He's an
amazing and wonderful doctor. He really cares about his patients
and treats them like people. For example, he prefers to be called
Marvin.

Dr. Natowicz put me on high levels of energy enhancing
supplements. For five years, he order scores of DNA testing...
Maybe even a hundred. I gave so much blood and urine for testing.
They also did a skin biopsy and cloned my cells for special
research.

Everything came back negative or normal. In real life, my body
was a mess. But I looked perfect on paper.

He would not give up. We did test after test... At every visit,
he had new ideas to test for. This area of medical studies is
rapidly growing. They make new discoveries every day. Marvin was
sure it was only a matter of time. He was right.

In July, 2010, I sat in his office as he told me a test came back
positive. I was too shocked to understand at first. After 30
years of bewilderment and searching, we finally got an answer. I
have an extremely rare genetic diseased called PHARC. Nice name,
huh? It stands for Polyneuropathy, Hearing loss, Ataxia,
Retinitis Pigmentosa and Cataracts. I have all those, plus most
of the other symptoms of the disease.

Reading about other case studies was like reading my own story.
It is amazing to realize there are other people out there like
me. Not many... but some. I'm not alone anymore. And now I
understand what is wrong with me.

I also have the peace of mind of knowing that my son, who is now
11 years old, does not have my disease. That was always my
biggest concern. Now I can concentrate on me.

There is no cure or treatment for PHARC. There's still little
research about it. I am hopeful that as more people are
identified with the gene mutation, there will be more research
and ideas for treatment. I am part of the research studies now. I
don't think there's much help for me. But maybe new knowledge
will help someone else in the future so they do not go through
what I had to endure.

As for Tony, it seems obvious that he had PHARC, too. Sadly, he
passed away five years ago, from an unrelated cause. There is no
way to test him for the disease.

I still see Dr. Natowicz every six months. He monitors my
condition to keep me as strong and stable as possible. He's also
continuing research on PHARC. If anyone can help me, it will
surely be Marvin.

I say, Don't cry for me. Don't count me out. i'm still living a
full life as a mother, student, writer, leader and more. If I
want something, I go after it. I'm too stubborn to give in or
give up And, so, life goes on....

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