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The following, as conveyed by Betsy Findley, is slightly edited for formatting and style.
Tell us about your beginnings with Gaucher disease. How did you learn about it?
We first found out about Gaucher disease when my youngest brother, Andrew Cizek, was diagnosed (as a teenager) at NIH in the late 1970’s – early 1980’s.
I believe all of us – our parents and all five children – were tested using a skin biopsy (a hole was cored from our arms). Andy and I tested positive. He was almost 11 years younger than I was.
Information helped explain my severe bruising, enlarged liver and spleen, and bleeding complications following two C-sections and other surgeries.
Andy was part of early enzyme replacement trials; I was a young mother and went on with life. There were no suggestions of treatment or further discussion that I recall.
How did you get connected with the National Gaucher Foundation?
My mother, Joan Cizek, joined the NGF and would get newsletters, which she would share with me.
In 2010, I contacted NGF and it was suggested that I reach out to the University of Virginia. UVA was amazing; just amazing. The coordinated testing and efficiency of scheduling allowed for much to be accomplished on each trip. They did an extensive work-up and many scans, including an endoscopy and bloodwork, and found the specific genetic markers I had for Gaucher disease.
It was recommended that I receive ERT, but the supply for the drug was not readily available.
About 2 years ago, I started having hip pain and Kaiser Permanente found a lot of odd bloodwork that landed me with an oncologist. Coincidentally, the same oncologist treated my brother, Andy, for ERT and then later for cancer. Andy died in 2017 at the age of 52.
The oncologist was hitting a lot of walls in her effort to get treatment for me. This frustration led to a conversation where she suggested I reach out to NGF, who directed me to Dr. Goker-Alpan.
Dr. Goker-Alpan did some bloodwork and examined me. She was unhappy to see how high my Lyso-GL-1 plasma level was and pushed for Kaiser to do more tests and begin treatment. More walls.
At this time, we were moving and planning on switching to Medicare. Once all this sorted itself out, I began ERT in mid-October 2023 and am now under Dr. Goker-Alpan’s care.
An important part of this story is how Robin Ely came into my life during a time when I was seriously questioning why I should have ERT. She responded to an email sent to the NGF universe and spoke with me at length. It was beyond helpful. I am grateful!
What message do you want to share with patients and families that are just beginning their Gaucher journey? Are there any lessons you’ve learned that you think they should know?
Beginning ERT at 68.5+ years is probably not the norm. I’m on weekly ERT infusions for 6 months and have not yet had bloodwork to see if platelet counts and other numbers have improved.
I put off getting treatment for several reasons – being a busy working mom, caring for elderly parents and family members. We all hear that we need to take care of ourselves in order to care for others. I think that’s the lesson; take time to care for yourself. I didn’t.
Is there anything that you think the general public should know about Gaucher disease and the greater Gaucher community?
It would be helpful if Gaucher disease were better known. My understanding is that pediatricians are now more aware and checking children with symptoms. My generation was pushed through with excuses. I was never aware I had low platelets until I was in my late 20s. It’s all so different now.
I played many sports through high school and college. During annual physical exams, I would hear that my liver and spleen were enlarged. This week at my ERT appointment, there was a book – David Explores Gaucher Disease. I read it, and it’s well written and explained. The fun part was hearing how he should play other sports. I’m guessing (now) that my favorite sport I played for almost 20 years was not the best idea. My bruising from hits and injuries were spectacular…
I’m just now remembering how volleyball was so painful in gym class – hmmm.
If you could describe the Gaucher community in a few words or phrases, what would you say?
I have reached out to the Gaucher community three times: twice for my own questions and once for my brother when he was battling cancer before his death. The support, knowledge, and patience have been remarkable.
I am grateful.
