Celebrating Life with Elianna
Our daughter, Elianna, is special in so many ways.
She is an aspiring actress who has been in 12 plays over the last
3 years. She takes lessons in voice, dance and acting. She tried
playing the trumpet, but the early morning practices didn’t fit in
with her busy lifestyle. She is an excellent student who reads at a
12th grade level. She is a pesky little sister, Daddy’s
little princess and Mommy’s best friend. Ellie has ARPKD/CHF, and we
can’t imagine life without her.
Ellie was diagnosed with ARPKD when she was three months old.
Because she had no symptoms other than an enlarged abdomen, we were
sent home from the hospital the day she was diagnosed with no clear
direction of where to turn next. We were fortunate enough to have
had her diagnosed at a major children’s hospital, so the doctors who
spoke with us were very knowledgeable and not unduly alarming about
her future.
However, once we were away from the hospital and we tried to
gather as much information about the disease on our own, things
became very frightening and very uncertain. We turned first to the
national PKD foundation. While the people were very kind, they
seemed very uninformed about ARPKD. The local chapter was even
worse. As many other parents have experienced, the medical
literature was dismal. The first time I read under an entry for
ARPKD that the only prognosis was death, I almost couldn’t breathe.
We felt so alone.
Over the years, we patched together more contacts and more
information, increasingly more reliable. We’ve had our share of
nephrologist turnover in the search for the best fit for our needs –
from the doctor who tried to bully us into growth hormone when Ellie
was 3 to our current nephrologist who will soon be operating a
research center devoted to ARPKD.
We realize that we have been blessed with good fortune. While
Ellie clearly has detectable changes in both her kidney and liver on
ultrasound, the function of both organs are basically unaffected.
She is a little growth delayed, but endocrinologists locally and at
the NIH feel that it is unconnected with the ARPKD, and more likely
just another little genetic glitch because her father was a “late
bloomer.”
Today, we feel so hopeful about Ellie’s future, and a large
amount of the credit goes to the ARPKD/CHF Alliance and the study at
the NIH. Parents of babies diagnosed with ARPKD/CHF today, while
still feeling the same sadness and uncertainty that we felt, have
good solid research to turn to, as well as supportive individuals
and a supportive organization solely focused on improving the lives
of children diagnosed with this dreaded disease.
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