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Mommy and Gilly's Story

       In February 2001 I found out that I was pregnant with Gilly. It was scary to me, I wasn’t sure if I was ready to take on the big responsibility of raising a child. Then, after I came to terms with it that I was just very happy and excited to meet my baby. The pregnancy was rather easy for me, only during the first trimester I was very tired. For the remaining of the pregnancy I felt pretty good. I didn’t stop working until two weeks before the birth and only because Rex kept telling me to take it easy. On Sunday morning the 23rd of September I woke up with mild pains in my stomach. I wasn’t sure at first if these were labor pains or not. A couple of hours later I found out that this really was the real thing and me and Rex drove to the hospital. The pain was quite severe by now. On our ride over Rex said to me: ”I think that today is the day that we will start our family”. And that we did! Gilly was born that day at 1:53 p.m. She was the most beautiful baby that I had ever seen With a head of dark hair and blue eyes, I just started to cry when I held her for the first time.

      I had decided to breast feed her but that went never right from the start. Somehow she didn’t really suck and after two weeks we had to go to bottles and formula. Not even a week later we ended up in the emergency room with what we found out later a bad case of constipation. She started panting and breathing strange and after she did her big, huge poopie in the emergency room she was ‘fine’ again and we took her home. A week later, the pediatrician noted that Gilly was floppy and had a weak muscle tone. She wanted us to massage her daily and do exercises with Gilly and then come to see her in two weeks. That is what we did. Two weeks later everything was still the same and we got an appointment with a neurologist. We had to wait for hours in an examination room and after she came in and examined Gilly the neurologist left the room again and we had to wait again. When the neurologist came back she told that she thought that Gilly had Spinal Muscular Atrophy. I though that my world collapsed. A DNA test was done on Gilly and we had to wait two weeks for the results. Those were the most nerve wracking weeks in my life.

      Of course, we couldn’t wait two weeks, we were too scared. We brought her to Boston’s Children’s Hospital. There we stayed for 5 days. They did an EMG, a test with needles and electricity. A horrible, horrible test which I am sure that gave Gilly night mares for a long time after. At the end of the day, around 6 p.m., a bunch of doctors and residents called Rex and me and we were led into the family room. They had the results of the EMG.... They told us that it was 99% certain that Gilly had SMA Type 1 and that there was nothing that we could do. There was no treatment available and Gilly would die between two weeks and two months, she surely wouldn’t see Christmas. We went home with oxygen, an apneamonitor and a suction machine. One week later the results came back from the DNA test that was done and Gilly tested negative for SMA. I was very happy about that but it turned out that 5% of people have non-deletion SMA and Gilly happened to be one of them.

      In the meantime the weeks passed and it turned to Christmas. Gilly was still with us and we were overjoyed. After the holidays we got us a computer and had access to the internet. We got in contact with other parents of SMA children and because of them we finally got on our way with getting the right kind of care for Gilly. We saw a pulmonolegist who prescribed a Bi-Pap, cough assist and pulse-oximeter. We also scheduled an appointment for G-tube surgery. Gilly hadn’t lost her swallow yet but since she is a Type 1 she would lose it for sure. We just got everything in place before it happened.

      She was doing rather well until May the 30th when she ran into trouble because of a mucus plug. Her right lung collapsed and she was intubated for 31/2 weeks. Boy, those were scary times! But, luckily we got to go to UMDNJ and were under the care of the best doctors after our local hospital messed things up.

      Once we got home things really changed drastically, Gilly needed round the clock care. One of the hardest things to do was getting in a routine. We got it though and after some adjusting everything fell back in place. Gilly is the joy of our live and we are very happy that we can do our part to help and assist Gilly to live her life to the fullest.

      We are glad and thankful that we are able to do this, no thanks to the people in the medical field but thanks to the parents of other SMA children. They are the ones who gave us the hope at the time that we needed it and who always helped us with support and advice. Because of them and the grace of God, Gilly is with us today leading a happy and healthy live. Maybe our life is different than that we envisioned it to be when I was pregnant but it surely is as good, or perhaps even better, than we expected.


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