Written by Brenda Jacobs
The first 20 years of my life was a breeze. At age 20 my life was completely turned around by giving birth to my first child and discovering that I had Cystinuria. Life suddenly became very painful and my once peaceful existence turned into a nightmare. None of the doctors where I live had ever treated a cystine stone producer. They didn’t know what to expect or how to help. I suffered for many years on special diets and large amounts of sodium bicarbonate. My condition only worsened. I have had all types of surgery and none of it works very well, because in the end the rocks always return to hurt another day.
Over the years I have researched this disease as much as I could. I wrote to most of the big teaching hospitals in the United States and luckily some of the doctors wrote back or called me in person. All of them seemed to be guessing about treatments and they all wished me well. I am not one to give up easily so I wrote to Dr. Charles Pak in Dallas, Texas. It took two letters but finally one day I received a call from his research assistant, Dr. Lisa Ruml. What can I say; she was wonderful. We talked several times and I decided to fly to Texas to become part of their research. I had never flown before and the trip was quite an experience. Dr. Ruml and Dr. Pak were great. Dr. Ruml knew the answers to most of my questions and she left quite an impression on me. These people are working around the clock to try to come up with the answers and I truly believe it will happen in the not too distant future. But for now I continue to suffer and put my family through this ordeal. My husband supports me and works two jobs to keep our household going. Since I have been connected with CSN I have made some fabulous friends. They are Brian Kirby and Marilyn Shipley. I couldn’t make it without either of them. We talk on the phone and write. I would like to thank Jann Ledbetter for leading me to these two wonderful people. I have just recently met a third person, Tina Robinson, who I am starting a new friendship with. Life with Cystinuria is hard but with my family and these friends and doctors, I think I can get by.
As I write this, I am getting ready to go into Duke University Hospital for more surgery. There is a doctor, Glenn Preminger, at Duke who studied under Dr. Charles Pak in Texas and he seems to know a lot about this disease. So off I go again down the yellow brick road to see the wizard. Maybe the wizard’s at Duke.