International Pompe Association

Tiffany was accepted into the first juvenile clinical trials with enzyme replacement therapy (transgenic ERT) in the Netherlands in June 1999. Although this (is) was an opportunity that we had hoped and prayed for, it brought with it many issues that we, as a family, had to face. We decided that Tiffany and I would go to the Netherlands and that Randall and the other two children would remain in San Antonio, Texas.

In March 1999, our family flew to the Netherlands, to find housing that would accommodate a handicapped person and the rest of the family when they came for visits. After a week, Randall, Andrea, and Randy returned to the US, and it would be 2 ½ months before we would see them again.

Tiffany and I spent this time adjusting to our new environment and waiting for the juvenile trial to start. Tiffany was lonely, but she worked hard and continued her schooling via email and correspondence course. This period was hard on the family at home as well. When school was out for the summer, both kids came to the Netherlands to live with us. Although we enjoyed having the family together, it was a difficult period because the trial had started, and much of our time was spent at the hospital. Randall continued to travel between the Netherlands and the US and spent as much time as possible with the family during the summer. In August Randy and Andrea returned to school in the US. It would be Thanksgiving before we saw them again.

The first six months of the trial was difficult. Tiffany had several operations (three muscle biopsies and the insertion of a porta-cath), a montage of testing, and weekly ERT treatments. This consumed most of our time, but we did manage to see some of the sights around Rotterdam due to the kindness of new friends. We also developed friendships with others in the clinical trials.

Our family returned to Rotterdam at Thanksgiving and again at Christmas and when the holidays were over, Andrea remained with us and attended school in Rotterdam. Tiffany now had her sister to talk to, and Andrea loved being in Rotterdam. This was a good situation for “the girls,” but we missed “the boys” who were on their own in Texas.

During the first six months of treatment, Randall and I were constantly worried; worried that the treatment was not working; worried that the dosage was too low; worried that they would not continue the trial, but the biggest worry was that Tiffany’s scoliosis was becoming critical and that surgery could no longer be postponed. We had hoped that her pulmonary functions would increase with ERT which would have made it safer for her to undergo surgery, but this had not happened. We had a dilemma. Tiffany had to have surgery; we wanted to return to the US to have the surgery, but Tiffany had to continue ERT treatment in the Netherlands.

After months of deliberation and consultation with specialists in both the Netherlands and in the US, we decided to try to get Tiffany’s ERT treatment approved for administered in the US. It wasn’t until June 2000, that these plans were in place, and we prepared to leave the Netherlands. Several months prior to this, the dosage on the juvenile patients was increased for the second and final time to 20 milligrams per kilogram of weight.

Tiffany underwent the first of two surgeries for scoliosis in July 2000, at the Mayo Clinic in Rochester, Minnesota. She remained in the hospital for three months and during this time continued to receive weekly transgenic enzyme infusions. As her release from the Mayo approached, we faced another dilemma. We wanted to return home to San Antonio and have Tiffany receive treatment there. It took six months before we received approval to do this and during that time we made weekly trips to the Mayo for Tiffany’s infusions. In April 200l Tiffany received her first infusion at the University of Health Science Center in San Antonio. Two years had passed since we first left San Antonio to begin enzyme replacement therapy in the Netherlands.

During Tiffany’s third year of treatment with the transgenic enzyme (June 2001-June 2002), she began to show signs of improvement. After three years of treatment with the transgenic enzyme, we were finally beginning to see a light at the end of the tunnel. We were encouraged by her progress, but new problems were on the horizon. In July 2002, after months of reduced supply of the transgenic product, Genzyme Corporation decided to cease production of the transgenic enzyme. Tiffany was transitioned to the CHO product, and her dosage was reduced by half.

After four months of treatment with the CHO enzyme, it was evident that Tiffany was once again experiencing problems that had previously subsided or diminished during her first three years of treatment with the transgenic enzyme. This was a devastating setback for Tiffany and for us, her family. Out of the four patients transitioned from the transgenic to the CHO enzyme in July 2002, three suffered setbacks. Since November 2002, steps have been taken to rectify this situation, but only time will tell what the outcome will be.

Although participation in a clinical trial offers hope, it is a virtual roller coaster of emotional experiences that are extremely monumental especially during the teenage years. This has impacted Tiffany’s life not only physically but psychologically as well. It has impacted the lives of us all.