Part 2: The Journey Continues
Dr. Permutt and Jon Wasson, who helped discover the WS gene and named it WSF1, were leading the first-ever WS clinic in St. Louis. Dr. Hershey and many other fabulous doctors from Washington University in St. Louis and other areas of the United States, started the first database of WS families and symptoms. Dr. Permutt talked with us about his mission to find a cure for WS, and he was so overwhelmed with emotion that we were willing to help him with his dream, even though it was a financial burden on us. For so many years, he studied only mice afflicted with WS. Now he had actual patients with this terrible disease, and our united efforts to help him find a cure.
We heard there wasn’t going to be a second clinic because Dr. Permutt’s grant did not come through for a second year. Again, our hopes and dreams were crushed. But soon we learned there was a new family diagnosed with WS right in St. Louis. We discovered we had a mama bear ready to take on the mission. Stephanie Snow came at us full speed. She quickly set up fundraisers to get the money we needed, and through her hard work, the Snow Foundation was able to fund the second WS clinic.
It was during the second clinic that we discovered Dr. Permutt had cancer. He had said nothing to us so we were very surprised. After the clinic, we learned he had died. I felt all our hopes and dreams also died. We had worked so hard and for so long to have the possibility of a cure within our reach, and I was completely devastated. For only the second time since my daughter’s diagnosis, I broke down and cried.
We thought we were back at ground zero, but we soon learned that Dr. Hershey had come up with a three-year grant. With that grant and funding from the Snow Foundation, we were able to hold four more research clinics. We also learned that Dr. Fumi Urano, who attended our first clinic, would take over Dr. Permutt’s role and research. We were again headed in the right direction and had hope. But the year after Dr. Permutt died, the clinic was a little somber. One day Jon Wasson asked to meet with us. He told us this would be his last clinic; he had cancer and was going to die. This was almost too much to bear. Again, we mourned the loss of another WS pioneer.
At the sixth research clinic, we learned that Dr. Fumi found a drug he believed would at least stop the progression of symptoms. This was exciting news! The only problem was that it had taken seven years to reach this point, and my daughter’s condition had worsened over that time. They were ready to start the first human safety trials on the drug that could possibly stop the symptoms from progressing. The drug would target the optic nerve loss, the beta cells of the pancreas, and balance. My daughter was already blind, and she had no beta cells left in her pancreas; the balance wasn’t enough to get her into the clinic. I told them that if the drug couldn’t help my daughter, we would step aside so it could help someone else. What they didn’t know was that on the nine-hour drive home, I cried most of the way. This was everything I had hoped for, but it was too late. It was only the third time I cried since my daughter’s diagnosis. I had failed her.