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My name is Karen, I am 54 years old and I have ARPKD/CHF. I am the
oldest
of three girls from that marriage. I was 6.3 pounds at birth.
ARPKD/CHF didn't even have the name then. As a kid I got sick more
than my
sisters but nothing special. At age 12 a routine blood test showed
a very low
white count. Sent to a blood specialist I was put in the hospital
for tests (even
a bone marrow
aspiration, not necessary now). As one after another came back
negative, no one knew what else to look for. I remember
two doctors
disagreeing
over whether my spleen was enlarged. This was determined then
solely by feeling
the edge of my rib cage! I was sent home with everyone scratching
their heads.
At fifteen a cursory
physical for after-school sports showed elevated blood
pressure. Everyone thought it was no big deal except the nurse
there. I was so
angry at her, she made
me get a note from my doctor saying it was O.K. to participate,
which he did. Looking back, that nurse was good. Around 19 I was
put on blood
pressure pills which were slowly raised until I was 27 before they
found a
combo that got it close to normal. As I aged it got even better.
At 15 I had my
first kidney stone, one of many to come. Finally after years of
this
I was sent to a
University for an analysis of stones and a CT scan. The tech said
he wanted to do it again with contrast, asking me if anyone ever
said anything to
me about cysts. By then
I was in my thirties. Again nothing came of it except every other
year ultrasounds.
Later after a scan my
doctor told me to remind
her to do it again in
six months. When I did, I was told it could wait another six
months. On the way home
I thought about this. I called to ask for a copy of the
last report. To make
things short it said something looked odd about my liver.
Now that I had asked for
the report it was done again right away. I was sent
to a gastroenterologist who wanted a liver biopsy. When I asked
for the results
I was only told it was being sent for another opinion. "Where?" I
asked. "To the
Army." "What?" "They are knowledgeable about the liver." When that
came back
I was told the result was unbelievable, something very rare called
ARPKD/CHF.
He said my slide was being passed around to all the universities in
Chicago. I was
also told I had about two years to live. I wasn't alarmed; I felt
fine and didn't
believe them.
Meantime I got older.
Nothing happened except all I could find in
my own research
(pre-computers) was information on kids. What about me I wondered.
In 2004, I found information on my computer regarding a new study at
NIH on this rare disease.
I called and volunteered. I was there in '04, '05, and didn't have
to return in '06
I was so stable. I go
back this December. Everything is at no cost. Meantime I wonder
how many other people like me just don't know
they have it. I think
from my experience there are more out there. I am excited to
be in this study, hoping my longevity with few complications so far
will help find
the "modifier genes"
which keep me so healthy. I hope this will someday help lead
to a treatment. I love
all the doctors and technicians at NIH and being where they know
the latest about ARPKD/CHF
and give all the information they gather to you directly.
My personal favorite is Dr. Theo Heller, but they are all
wonderful. As busy as they
are with research they find time to talk to you and answer all your
questions
as best they can in a
very gentle and caring way. I love it there. If you are thinking
of going you'll be glad
you did. It's a "no lose" chance, they even fly you there
and back.
Karen
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