Living with Gaucher:
Emily Filomena 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 2 years to conceive Emily.  She was born 3 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.  Finally, at 23 months old, a visit to the Hematologists office to review the recent alarming blood levels.  Thankfully, we ended up getting a different doctor in the group this day thankfully. 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.  My heart dropped to the pit of my stomach I knew we were on our way to getting the answers we sought for nearly 2 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, cat scan, x-rays and ultra sound done the following day. We were told she had Leukemia, we were devastated.  After that was revealed we were told the diagnosis was “premature” that Emily had a “Storage Disease” and to see a geneticist which we did.  DNA studies were done and one of the findings was Gauchers Type 3. We had the port placed for weekly ERT infusions of Cerezyme.

Our family chooses to live in the present.  The could have, would have, should have’s 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 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, 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, one moment at a time, is the approach we adopt here in NJ.  When my thoughts seem to stray off course, Emily reminds me the importance of keeping a clear focus on the present by singing he favorite chant “Happy Sun Heart”.

Carla Rose Schiavone

visit our website/blog @ www.caringbridge.org/visit/happysunheart/mystory