Emma Rose Rabinowitz

Emma Rose was born on May 17, 2004. She was a beautiful, healthy, and sweet baby. We were so thrilled for her to join our family especially to develop a special bond with her older brother, Jake.

Emma developed normally for the first 5 months. She rolled over at 4 months, and began sitting up at 5 months. At 6 months, she was sitting unassisted, but still unsteady. She rarely reached out for toys that were in front of her. I suspected that Emma had a developmental delay. But by the time she was 7 months, I had a gut feeling that something was definitely wrong. Emma had stopped rolling over and had not reached any new milestones. However, she was such a happy baby and would beam a huge smile whenever she saw a camera. Little did we know that gorgeous smile would eventually fade.

Then, I noticed that one of Emma's eyes began drifting slightly. Our pediatrician referred me to a pediatric ophthalmologist, who quickly found cherry red spots on her retinas. We met with a genetics counselor and a geneticist the next day. We were told that Emma most likely had 1 of a handful of lysosomal storage diseases all of which were incurable.

I remembered that I had been tested for Tay-Sachs disease, as well as several other diseases common to the Ashkenazic Jewish population prior to becoming pregnant with our older son, Jake. The results had all come back normal.

After waiting 2 long, painful weeks, Emma was diagnosed with Tay-Sachs disease at the age of 8 months on Jan. 24, 2005. It was at that moment that I felt as though someone reached inside of me and tore out my heart.

After her diagnosis, I was tested once again, along with Dave, to find the exact mutation of the disease. The results from this test and my original test differed greatly. There was obviously a huge error in my original screening.

Soon after Emma's diagnosis, she became very irritable needing to be held almost all day. She seemed much more lethargic, and often had a blank stare on her face. She also had a very pronounced startle response. By the time she turned one, she could no longer sit unassisted and she hadn't developed any new skills. Around 14 months, she developed seizures, which were mainly triggered by repositioning. In Nov. 2005, Emma had a G-Tube placed.

Since then, Emma has lost her vision completely. Her seizures have manifested in many different forms. She has fought 2 cases of pneumonia and 1 case of RSV, in addition to several respiratory infections. She still randomly smiles and giggles. We have not heard Emma cry since Feb. 2007. She has no independent movement, other than to slowly turn her head at times. However, she recognizes the voices, smells and touch of those people closest to her. Her responses are small, but very clear to us.

On March, 1 2007, Emma became a big sister. After having CVS testing done early in my pregnancy, we found that our baby, Zack Emerson, is a carrier of TSD, but thankfully not affected.

Emma is our little ray of sunshine. She possesses a warmth and sweetness that radiates around her. Just holding her brings us a sense of calmness and peace. Emma defines the word patience. She has touched so many people’s lives she is a true inspiration to us. We treasure each and every moment we have with her.

Julie & Dave Rabinowitz
djrabinowitz@optonline.net
www.caringbridge.org/visit/emmarabinowitz