Living with Gaucher:
I want to have a little sister said Maria. All her friends had siblings they could play with and she wanted one too. When we told her we where going to have a baby, she couldn’t have been happier. We all waited anxiously for the arrival of the new baby. Finally on October 9, 1994, Victoria was born. She was a beautiful 8lb 7oz baby with a 9.5 on the Apgar Scoring. Like her sister she was a wonderful baby, never a bit of trouble. For fifteen months we were very happy. Her older sister could not wait until Victoria was older so they could play together.
Things changed during the Christmas Holiday, 1995. A strange rash developed all over her body and she was running a high fever. I remember the New Years Eve party. While everybody was having fun in the house, I was in another room holding her in my arms. We were at a relatives’ home for the holidays and had to rush back home early to take her to the doctor. We were told that she had Erythema Multiforme, but they were unsure of the cause.
It was in January, 1996, at her fifteen-month doctor’s appointment that he noticed her spleen was enlarged. We were sent to the hospital for an Ultrasound and some blood work. Victoria’s blood levels were a little low, so he decided to put her on iron and wait for a couple of months. The doctor thought the enlarged spleen could have been caused by the rash she had at Christmas, but asked us to come back for another appointment. When we went back in April her belly was so big she looked nine months pregnant and her balance was so bad that she kept falling all the time. After checking her, the doctor decided to send us to a specialist in hematology. On April 29 we went to the hospital for some tests. They told us that there was a possibility that Victoria had Leukemia, and they wanted to discard that. We went back the next day for a bone marrow biopsy and some more tests. Victoria could not understand why they were doing all this to her and we felt helpless. On May 3, 1996, they called us and told us that she had Gaucher’s Disease; we had never heard of it before. The first thing we did was to try to find out about the disease. We read a lot and for three days, we prayed that she would be Type 1. On May 6 (my birthday) we had to go back to talk to the specialist on Gaucher’s Disease. That was so far the worst day of my life. The doctor mentioned the three types of the disease and talked about some of the symptoms. She said that Type 3’s had the Horizontal Ocular Apraxia. She then looked at Victoria’s eye movement and said that she was certain she was a Type 3; she also said that she would not live to see her twelfth birthday and that before that she would deteriorate progressively. At that very moment I thought my world stopped and I felt like somebody was squeezing my heart. I couldn’t breath. When we left the hospital we decided to contact NIH and have her evaluated there. We went in July but in the middle of the evaluation we had to come back home because she had got sick with a virus and was having a hard time fighting it. We went to the doctor and he said that as long as she was drinking it was okay. Two days later we had to rush to the hospital, she was completely dehydrated. She was 21 months old and she weighed 16 pounds. She barely had any life in her. I thought she was not going to survive and I felt very much alone. I don’t think we had prayed so much in our entire life. I know it was my faith in God that helped us to survive it all. I was crying for joy when finally one night a nurse had to sneak into the Cafeteria for a piece of bread. She was asking for food.
Victoria had her first enzyme treatment on her father’s birthday, August 29,1996. Since then she has been getting better every day. Her spleen and her liver have reduced almost completely, her blood levels are normal and she is growing at a normal pace. Last year we started her treatments at home. She loves Sandy the nurse and she always lets her put the IV in with a smile on her face. She does great with the stick and she even flushes the line herself. Victoria is happy because she can finally play with her older sister. Her father calls her his “sunshine” and she feels very proud of that, but the truth is that she always had a radiant smile on her face. She is now almost five years old and, if you didn’t know it, you would never know that she has Gaucher’s Disease.
I asked her a few days ago if she knew why we always ask God to heal her, and she answered, “I don’t know”. She is a very happy girl. We don’t know what the future will bring us, but we know that she has changed our lives forever and as long as she is with us we will enjoy every minute of it. Life has a new meaning for us; we don’t take anything for granted anymore. And I know in my heart that God is taking care of her.