contact me at neodba.info@gmail.com.

Thursday, July 7, 2011

PHARC

I have PHARC. You pronounce it like "fark." It sounds like a
curse of some sort. Are you suffering from multiple
disabilities? Have you been searching for years but still can't
find a cause? Are you fed up with pain? Well, pharc it all!
Oh, pharc!

Years and years of searching and confusion. Too many questions,
very few answers. What is wrong with me? Why am I deaf-blind?
What happened to me?

Test after test reveal no clues. Everything says I'm normal.
All you need to do is look at me to know I'm not normal.

Usually my doctor follows a pattern in looking for a genetic
answer to my problems. He considers my symptoms, finds a
disease that matches, takes my blood and then tests to see if I
have the disease. This time he did it differently. He found
an abnormality in my DNA, matched it with a genetic mutation,
identified a disease and then looked at the symptoms.

Did my symptoms match those of the disease? Oh, yeah! Just
look at the name. PHARC stands for Polyneuropathy, Hearing loss,
Ataxia, Retinitis Pigmentosa and Cataracts -- all of which I do
have. There are other symptoms, as well, and I have most of
them.

PHARC is so new that there is very little research available. My
doctor is not ready to assign this diagnosis to me at this time.
He wants more research and information. But it is quite
apparent that this is what I have. It's right there in my DNA.
I'm also not the only one who has this. One report noted 19
people worldwide. I guess I'm number 20. It's comforting to
know I'm not alone.

Does it matter whether or not I can name a disease to my
problems? Yes, actually, it does. PHARC is a metabolic
disorder. Without proper treatment, my disabilities could get
worse over time. We need to figure out what my body is missing
and get it back in my system. Diet and supplements are the best
way to do that. In the future, there may be drugs to help treat
PHARC damage. Right now an eskimo diet is the primary approach
to prevent further damage.

It's also important for me to know the cause of my disabilities
so I can find out if my son is at risk for the same problems.
PHARC is inherited via a recessive gene. It is unlikely that he
would have received this gene flaw from both me and his father.
So he probably doesn't have PHARC. Later, once there is more
information, he can be tested, too.

I have only one complaint. Couldn't they have come up with a
better name? PHARC sounds so stupid. "Hello, my name is Angie
and I have fark." Not exactly the image I'm looking for... But
it's an answer! After 25 years of bewilderment, I'll take what I
can get.

That's all for now. I hope you have a PHARC-ing good day.

No comments:

Post a Comment

Followers