Emma is a 12 year old tween with an active social life. She skis, cheers, dances and goofs around… a lot. She goes to summer camp for 7 weeks every summer where she water skis, swims, sings and just hangs out. She is a twin. She is just your normal everyday 12 year old… and she is a Gaucher Type 1 patient.
Emma was diagnosed at 4 which came as a huge surprise to her dad and I because as Jews of Eastern European descent we had gone through genetic testing and all had come back clear. So either this was a spontaneous case or…the testing was incorrect. Well we came to find out that genetic testing, while very important is also only 88% accurate.
Once we were able to confirm the Dx (this took months and a number of blood tests and doctor visits) we began our journey. First, it is important to know Emma had signs (enlarged spleen, enlarged liver and some bruising) but no real symptoms. We live in the NYC suburbs and so were able to take her to one of the top Gaucher’s specialists Dr. Gregory Pastores. After a 3+ hour consultation with Dr. Pastores my husband and I decided that we would not begin treatment on Emma just yet. She was 4, she had been through so much and she was doing ok. And so, with the Dr.’s blessing we waited and watched her levels.
When Emma turned 7 we knew the time was right. Emma began infusions. Not an easy thing for a 7 year old. At first she didn’t want ANYONE to know. I couldn’t discuss it in front of her. She didn’t tell her friends. Slowly Emma came to realize Gauchers doesn’t make her different it makes her special. I credit Dr. Pastores for so much of that. He explained to Emma that this is not really a disease as much as a disorder and explained the difference. He promised that when she went to camp she could skip her infusions. He told her in no uncertain terms that he would never let her be “a slave to Gauchers.” He made it all seem “ok” and so… it is.
Slowly she told her friends and they all WANTED to come to infusions. She is the kid that got to have friends over every 2 weeks to watch a movie and eat pizza while she infuses. Now that she is in middle school homework and Instagram kind of fill infusion times.
This winter we got to see Dr. Mistry and he told Emma about the possibility of the oral drug being tested for peds. She stepped right up with “SIGN ME UP!” She is amazing. She is open about her “disorder” she is willing and eager to share her story and to help other kids with it. She is my Emma and I am blown away by her all the time!
-Randi Grunstein; Ramsey, NJ