NGF Mentor: Sharyn Lane

Sharyn Lane
Georgia
Adult with Gaucher
Email: slane0410@yahoo.com

Maybe my Gaucher story began with my great grandparents, who were first cousins living in a village in Russia. They married and left for America, unknowingly bringing the Gaucher gene along with them.

I was born and raised in Brookline, Massachusetts. After college, at age 22, I married my husband while he was in medical school and our odyssey began. We have lived in Boston, Philadelphia, Cleveland, Kileen (TX), Savannah, London, Ft. Lauderdale (18 years), Louisville, and finally Atlanta for the past 13 years. We have two grown children and 5 grandchildren.

I would say that I had a fairly normal childhood. After the birth of my first child I had severe bleeding that was stopped with medication. But after the birth of my second child I had severe hemorrhaging that caused me to receive 4 units of blood.

Over the next 15 years I worked for my husband and then worked in the Adult Education Department at a local community college. I was often fatigued and bruised easily, but none of my physicians suspected that I had anything of significance. After having a surgery, I experience a bone crisis in my knees. The various doctors couldn't figure out what was causing this. My blood counts were continually low so I eventually went to see a hematologist and through the bone marrow biopsy it was discovered that I had Gaucher Disease. At that point there were no options for treatment.

I had never heard of this strange disease called "Gaucher" and a few years later I finally met my first "Gaucher compatriot" who was the cousin of one of my friends. He told me about a low dose enzyme study being conducted by the NIH. I joined the study and was part of that study for about 2 years, lugging huge containers of urine through the airport as I traveled to Washington from Ft. Lauderdale and then from Louisville. At the end of the study I continued on Ceredase and was eventually switched to Cerezyme.

I feel much more energetic and have a better quality of life being on Cerezyme. I have had treatments at the NIH, at a hospital outpatient facility, an infusion center, and for the past 10+ years at my house. For me, that was the best decision I could have made.

I work full time and for the past 13 years I have been a Program Manager at the National Multiple Sclerosis Society. I educate and counsel clients as well as plan a variety of educational programs and events. I enjoy my work but more importantly, it provides me with the insurance I need to continue my treatments. In Georgia I would be unable to obtain individual insurance with the diagnosis of Gaucher Disease. That's an advocacy issue I would like to work on in the future.

I am grateful that I have access to a medication that can give us back our health and a wonderful quality to our lives. Thank you, Dr. Brady, for your dedication.