David’s Story of Gaucher Disease

October 4, 2022


Twenty-six years ago, our father was diagnosed with Gaucher disease. A “simple” broken shoulder turned into years of getting the wrong treatments and one false diagnosis after another until one doctor encouraged further genetic testing. It was at that point, Gaucher disease became a huge part of our family. For the last twenty-six years, we have watched my father undergo infusions for his Gaucher disease, battle multiple cancers, and struggle with deteriorating health as a result. As a carrier, I knew how important genetic testing was prior to getting married and starting a family of my own.

I met the girl of my dreams and of course, Gaucher disease lingered over our heads as we planned our future together.
We were introduced to JScreen through the National Gaucher Foundation and the stress was relieved. Within a week, our tests arrived, we provided a few samples of saliva and mailed them back. Before we knew it, their team of genetic counselors was on the phone walking us through our results.

Not only were we relieved to find out she was not a carrier, but we also had peace of mind knowing the results for countless other diseases we had never even heard of.

Even knowing our family history (and likely more so) I will admit, I really did not want to do the testing. It seemed inconvenient and a bit scary…

Now, as a husband and father, it was one of the best things I have ever done for my family.

I encourage everyone to simply give a spit (pun intended) and go get screened.

Learn more about Gaucher Disease here.



Headquartered in Atlanta at Emory University’s Department of Human Genetics, JScreen is a national non-profit offering at-home comprehensive and affordable genetic testing and counseling.

ReproGEN – determines risk for having a child with a genetic disease

CancerGEN – tests for genetic changes that increase risk for many types of cancer

If a person or couples’ risk is elevated, genetic counselors will privately address the results, options and resources to help plan for a healthy future.

JScreen believes that a combination of education, access to state-of-the-art testing technology, and personalized support by qualified medical professionals are key to preventing devastating genetic diseases.