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Tuesday, April 10, 2012

pharc

PHARC

The doctor speaks in a husky voice, Well, Angela, How have you
been since our last meeting?

I mumble, fine, just like I always do.

I'm here for my semi-annual appointment with a genetist. He's
Dr. Marvin Natowicz, Ph,D/MD. Call me Marvin. This is the
doctor who acquires genetic cases no one else can diagnose. He's
a real-life Dr. House, MD, but Marvin isn't a jerk.

I've been here before. I know how it goes. It's our ritual
dance. He informs me that all previous tests were normal or
negative. The vampire lab takes more blood and urine. We repeat
the cycle every six months.

The doctor talks in his calm, cerebral manner.

Angela, as you know, I sent your blood to Germany for a special
test. The results came back positive.

My eyes widen as my jaw falls open. The room begins to spins.
My mind is a tornado of shock and disbelief. No, surely I
misunderstood.

Yes, after five years of intensive testing, we have finally found
the source of your medical condition. You have a genetic
mutation know as PHARC.

Fark? Did he just say fark?

The doctor begins to explain, PHARC, he says.
Polyneuropathy
Hearing loss
Ataxia
Retinitis Pigmentosa
Cataracts

As he elaborates, all the pieces fall into place. My vision
problems and eventual blindness, my hearing loss, my balance
issues and shaky limbs, The pain, numbness and paralysis of my
legs and feet.... It all comes together in one tidy package. I
have PHARC.

This is an extremely rare condition, he tells me. You are the
20th person world-wide to be identified with this gene mutation.

Once again, I'm falling off my chair. 20 people? It sounds like
a small number. I view it the opposite way. 20 people? That
means there are 19 others out there in the world who share this
nightmare with me. They have similar stories to tell. I'm not
the only one.

At home, I tell my son about PHARC. He listens carefully and
asks many questions. Finally, I complain about the name.
Why do they have to give it such a stupid name?, I ask him. I
feel so dumb telling people I have PHARC.
He speaks with that simple wisdom that only a child possesses.
It's a stupid disease. It deserves a stupid name.

At last, after 25 years of bewildering and searching, I have the
answer. I know what the enemy is. I've gained the peace of
understanding.

My name is Angela, and I have PHARC.

Angela C. Orlando
April, 2012

3 comments:

  1. Hi Angela,

    I just found out that my brother and I have PHARC. So now there are 22 of us!

    Elise

    ReplyDelete
  2. Hi Angela,

    I just found out my brother and I have PHARC. Now there are 22 of us.
    I'm very glad to find your blog and read your story!

    Sincerely,
    Elise

    ReplyDelete
  3. Hi Angela,

    I just found out that my brother and I have PHARC. So now there are 22 of us!

    Elise

    ReplyDelete

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