The Importance of Genetic Carrier Screening: A Mother’s Perspective

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For Becky Vivian, mother of four and the driving force behind Eli and Ella’s Prayer Warriors, the idea of genetic testing barely crossed her mind. “Yes, my doctor presented the idea of genetic screening but we talked about family histories, and I thought no one in my family has cystic fibrosis… I’m not Jewish… What I failed to realize is that creating a family requires two people coming together and you have no idea what that could potentially mean.”

Early this October the Vivian family learned that their children Eli 7, and Ella 4 have metachromatic leukodystrophy (MLD).  MLD is a genetic disease that leads to progressive destruction of myelin, the protective layer surrounding nerve cells in the brain and spinal cord. As a result, affected individuals experience deterioration of intellectual functions and motor skills, and can eventually lose the ability to walk, speak, see and hear. Both parents contribute to the risk of a child inheriting MLD.   According to Vivian she had never heard of MLD before Eli’s diagnosis:  “I never even knew MLD existed… No one on my side of the family has it… No one on my side of the family has even heard of it.  You don’t hear about these rare diseases, you don’t know what lies in your DNA, your partners’ DNA and you don’t know what that means when you put two people together…”

After Eli was diagnosed, Vivian had her three other children tested.  Sons, Eric and Evan are carriers of the disease – like Becky and her husband Steve – while the youngest Vivian, daughter Ella, has MLD but is not symptomatic.  After learning of Eli and Ella’s diagnosis Becky Vivian launched Eli and Ella’s Prayer Warriors, a page on Facebook dedicated to her children, promoting awareness of MLD and genetic testing.  So far since the page’s inception several weeks ago, Eli and Ella’s Prayer Warriors have garnered over 4,000 followers on Facebook and unprecedented support from the local and global community.

Like any mother, Vivian strives to provide her children with the happiest and healthiest lives possible.  Right now that means working tirelessly to get them into a gene therapy clinical trial in Milan.  Beyond helping her own children, Vivian hopes that the Prayer Warriors will help to raise awareness and support for the other families affected by MLD in addition to “teach[ing]doctors’ offices to really go in to genetics, not just a family history, but explaining what it means to be a carrier and what happens when you put two people together.”

For more information about the Vivian family and ways you can help, visit Eli & Ella’s Prayer Warriors.  The Vivian family will also be holding a fundraiser on November 17 in Phoenixville, Pennsylvania.  For more information on MLD and other ways you can get involved, visit the MLD Foundation’s website.

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About Author

Stephany Foster

Stephany Foster is the Associate Scientific Writer at Recombine, a genetic testing company based in New York City. She writes on topics spanning fertility, reproductive medicine, and recent advances in genomics. Stephany also writes about recently published research that Recombine presents at conferences and meetings around the globe. Before joining Recombine, Stephany interned at the George Church Lab at Harvard Medical School. She graduated from Brown University with an A.B. in Biology in 2014.