I was diagnosed with Gaucher’s disease back in 1975 when I was 4 years old. During a routine visit to my pediatrician she noticed an overly enlarged lymph gland in my neck. After discussing their options, my parents decided to have it removed. My pediatrician consulted with several doctors and then sent the results to a friend of hers down at the National Institute of Health. Little did I know that her friend was none other then Dr. Roscoe Brady. If you do not know who he is, do a quick Internet search. You will quickly realize that anyone who has Gaucher’s disease owes him a debt of gratitude. After seeing the results of my biopsy, Dr. Brady told my parents to get on the next plane to Bethesda. That would prove to be the first of many trips my mother and I would take to NIH over the next 15 years.
Over the next decade and a half I participated in countless clinical trials all aiming to find a treatment for Gaucher’s disease. I don’t think I need to go into detail about the number of liver biopsies, liver and spleen scans or bone marrow tests I had, not to mention all the needles and blood draws. Suffice it to say, there were a lot! One memory that will stay with me forever was being one of the first children to ever receive enzyme replacement therapy (ERT). Unfortunately, this ERT did not work. It did,however, give Dr. Brady and the phenomenal doctors and scientists the information they needed to realize that the enzyme needed to be properly protein coded so that it would go where it needed to go and not just pass through our systems.
This breakthrough led to the last clinical trial I participated in. Myself, and a handful of other patients received a new version of ERT. To make a long story short, it worked and all our Gaucher’s markers began to improve. The success of this clinical trial led to the FDA approving a treatment for Gaucher’s disease. Since this trial, I have been receiving ERT every two weeks. For anyone that is counting that is over 700 infusions.
I am happy to say that as of the writing of this bio, I live a completely healthy life. My wife and I have two children and neither have Gaucher’s. I would like to take the time to thank every doctor, nurse, scientist, infusion specialist, research assistant, and yes, even the phlebotomists, for all the work they have done, and still do, to help everyone in the Gaucher’s community.
For anyone who would like to reach me, feel free to email me with any questions you may have (kevinrkline@yahoo.com).
-Kevin R. Kline; Livingston, NJ