Knowledge is Power When You’re a Carrier

July 22, 2015

by Rachel S.

Our journey with Gaucher disease started when my husband, Ryan, and I decided that we wanted to start a family soon. It was August 2011 and I was due for my annual visit with my OBGYN. Knowing that within the next year we would want to start trying to have children, I asked my OBGYN to test me for the full panel of genetic diseases common in Ashkenazi Jews.

I had heard about these diseases and the need for testing through my synagogue. A couple weeks later the nurse called and told me that I was a carrier for Gaucher disease and that my husband would need to be tested to see if he was a Gaucher carrier as well. Ryan was tested and again, a couple weeks later, we got the call that he was also a carrier for the same Gaucher mutation as I was.

No one in our family has had the disease or knew that they were also carriers prior to each of us getting our results. My heart sank when we got the news, not knowing what our next step would be or could be. We met with a genetic counselor where we were able to learn a lot about our options, both natural and using reproductive technologies, as well as more about what Gaucher disease is. We were told that, for each pregnancy, we had a 25% chance of having a child affected with Gaucher disease, a 50% chance of having a child that is a carrier for Gaucher disease and a 25% chance that our child would not have the disease nor be a carrier.

Type 1 Gaucher disease is an autosomal recessive genetic condition. Major signs and symptoms include enlargement of the liver and spleen, a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets, lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.

We chose to have in vitro fertilization with pre-implantation genetic diagnosis (IVF with PGD). This way, our fertility doctor would only implant embryos that did not have Gaucher disease. After a long PGD/IVF process, we are thrilled to have amazing and healthy 17 month old twins, Morrison and Jude that were born on February 11, 2014! Both of them are also carriers for Gaucher disease, just like their Mom and Dad, and that’s ok because carriers are healthy!

When they get older and start having families of their own, we will be able to educate them on their genetics so they can have the knowledge to make educated decisions on how they start their own families. Knowing our genetics was an important step in making sure we had the healthy family that we had always dreamed of, and thanks to genetic screening and counseling we do!

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.