Gaucher Community News - National Gaucher Foundation

In desperation, I gently grasped his arm along
with a deep glare into his eyes and said, “there
is something wrong; please help us.” The doctor
scattered, read the results and replied in a stuttering
manner, “Mrs. Schiavone, I agree and bear with me a
minute. I will be right back.” That was a bittersweet
suffocating minute.
Emily Schiavone
Genetic Awakening
Submitted by Carla Rose Schiavone
In 2006 I met the man of my dreams unexpectedly
at the cross roads of life. We married and waved
goodbye to our lives as we knew it, and together
began a new chapter without looking back. It took
almost two years to conceive Emily. She was born
three weeks early, had reflux, colic and GI issues
from the start.
Her stomach appeared big from infancy, though
we assumed it to be a Buddha belly.” No doctor
took notice even after pointing it out. She never
presented any thriving issues which I feel aided
the difficult time in diagnosing her. We had her
evaluated with many specialty doctors, children’s
hospitals, etc., with no findings. Every appointment
I felt judged as a neurotic mom. I knew something
was wrong, yet nothing was found.
Emily’s blood levels have always been off and the
Hematology/Oncology doctors were not concerned
due to her frequent colds/ear infections and felt the
levels were a reflection of that. Until finally at 23
months old, a visit to the hematologist's office to
review the recent alarming blood levels.
We ended up getting a different doctor in the group
this day thankfully.
My heart dropped to the pit of my stomach. I knew
we were on our way to getting the answers we
sought for nearly two years. He urged me to take
Emily to the hospital to see his colleague to conduct
more tests.
We had a bone marrow biopsy aspiration, CT
scan, X-rays and an ultra sound done the following
day. We were told she had leukemia and we were
devastated. After that was revealed, we were told
the diagnosis was “premature” and that Emily had a
“storage disease” and to see a geneticist, which we
did. DNA studies were done, and one of the findings
was Gaucher Type 3 for which she began having
treatment.
Our family chooses to live in the present. The
could have, would have, should haves in respect
to doctors and how this journey unfolded is
counterproductive. We feel Emily’s diagnosis was
found exactly when it was supposed to, and we leave
the unknowns to the Universe.
I hold hope for pediatrics to integrate the
knowledge of genetic disorders as a possible
indication for any abnormalities in their patients,
and additionally to look outside the box with the
understanding that every child is unique and does
not present the exact same symptoms.
One day at a time and one moment at a time, is the
approach we adopt here in New Jersey. When my
thoughts seem to stray off course, Emily reminds me
the importance of keeping a clear focus on the present
by singing her favorite chant “Happy Sun Heart.”
Carla Rose Schiavone has a website that she hopes will
help others who find themselves in similar circumstances.
www.caringbridge.org/visit/happysunheart/mystory
4