Kyle was born on June 22, 1993 weighing 11lbs 1oz and 23 inches long. Kyle was the picture of health. We came home from the hospital 2 days after Kyle was born. July and August were normal months; Kyle was your typical 2-month-old. In September of 1993 we noticed some congestion in Kyle’s chest but put it off as just a summer cold. Kyle had a choking spell in September and we were able to clear him. Again, we put it off as the formula going down the wrong pipe. The congestion was not getting better so our doctor referred us to an allergist. Kyle was tested for all of the normal allergies and he did not have any known allergies. Meanwhile, the congestion was continuing so the doctor thought Kyle was allergic to his formula. Again Kyle had another choking spell which was harder to clear. In November of 1993 Kyle went for a well baby check and the doctor told me that Kyle was very stiff for a 5-month-old and his head was slightly back. The doctor told me that Kyle might have Cerebral Palsy. I could not believe what I was hearing and I did not call the Cerebral Palsy foundation. Kyle’s congestion was only getting worse and in December of 1993 Kyle was hospitalized for the RSP virus. He spent about 4 days in the hospital and was sent home. We had an HMO and they were not really enthusiastic about sending us to real doctors. They kept us in their own team of doctors that only frustrated us and it was not helping Kyle.
In January of 1994 we were at a restaurant in Syracuse when Kyle had a choking spell. This was the worst choking spell he had and was rushed to Syracuse University Hospital for Children. Since this was a teaching hospital we went over and over Kyle’s symptoms a million times with every Intern. He was admitted to the hospital and the doctors told us he would not be released until they found out what was wrong with him. We were now in a real hospital with doctors who were not interested in keeping human lives on a budget.
Kyle went through so many tests. A spinal tap, an acid-reflux tests. They took his blood and sent it to the Mayo Clinic. The neurologist finally diagnosed Kyle with Gaucher II but to be exact they had to wait for the blood work to come back. We prayed they made a mistake and the blood work would prove wrong. Kyle was diagnosed in January of 1994. The doctors handed us a sheet of paper with one paragraph about Gaucher II. They told us there was no cure and he would not live past the age of two. I felt dead. They told us they only know of one case and that was in Cincinnati. A doctor, Gregory Grabowski, would be the most informed.
Meanwhile Kyle’s choking spells were getting worst. They put a G-tube in Kyle’s stomach before we took him home. While at home, Kyle choked again and was rushed to the hospital. There the doctors told us that Kyle would not live much longer. Our only hope was a tracheotomy. Kyle’s dad was against it but I could not bear to lose him so soon. Kyle was trached and he came home again from the hospital. The tracheotomy did give him some quality of life, nothing compared to normal but more than he had.
We had nurses 8 to 16 hours per day. Kyle was watched continuously. He was never alone. Kyle never sat up after he came home from the hospital. He never walked. If fact Kyle did not like to be picked up because he was very stiff. Kyle did smile a lot. From the beginning of this, Kyle remained such a pleasant baby.
In April of 1994, I heard about an enzyme called Ceredase or Cerezyme. I spoke with Dr. Grabowski and he said he would prescribe the medicine for Kyle. I wanted it for the relief of his liver and spleen. I realized this would do nothing for the neurological damage that had been done. Kyle received his first dose in the hospital in case of a reaction. After the first dose, we had a Hickman catheter put in so he could receive the Ceredase. The medicine was given at home from an RN.
Kyle’s stomach went down and we felt he was more comfortable. Kyle’s day was spent lying in front of the TV or someone reading or talking to him. Towards the end of 1994, Kyle was getting worse.
Kyle ended up back in the hospital in November of 1994. The doctors were ready to let him die if he choked again. I was not ready for that and he managed to make it home. We were trained on how to administer Morphine if we felt Kyle was not going to make it. In 1995 Kyle was getting worse. He weighed only 11lbs. The same weight he was when he was born. Through the months we spent as much time with Kyle as we could. He celebrated his 2nd birthday on June 22, 1995.
It was July 30, 1995, at 4:00am in the morning when I woke up to check on Kyle. He was resting peacefully. I gave him a kiss and told the nurse if he felt good to start his feeding at 6:00am. That was the last time I saw Kyle alive. He passed away that morning. He was at peace, his face was so peaceful and he looked so calm and rested.
As Kyle’s mother, I will never get over his loss. I move forward but I am not whole. I compare it to losing an arm, you go on the best you can, but everyday you look down and know a piece of you is missing. Knowing that doctors are now looking for a cure gives me peace. Through the efforts of the Children’s Gaucher Research Fund parents not only have support, but they now have something even more important – hope. One day, when a child is diagnosed, doctors will tell the parents, “It will be okay. We have a cure”.
Adrienne and Phillip Herrell