PGD: The Zoe and Isabella Story

August 3, 2015
JScreen

by Becca Shimshak

 

There’s a land that I see where the children are free and I say it ain’t far to this land from where we are.” – Marlo Thomas

For me, having children felt so far away when I was diagnosed with endometriosis and an ovarian cyst. I turned to in vitro fertilization (IVF) reluctantly because I was committed to trying to have biological children with my husband Steve.

 

IMG_2548 (1)Wanting to be responsible for my health, I determined that if I was going to move forward with IVF, I would only do so with the cards stacked in my favor — chock full of information from pre-implantation genetic diagnosis (PGD). PGD is often used for couples who are both carriers for the same recessive genetic disease. The procedure allows the parents to become pregnant with an unaffected child and plan ahead for a healthy family. I learned of PGD from a woman I met through Mayyim Hayyim, the pluralistic Mikveh in Newton, MA.

We chose PGD because we had a previous first trimester miscarriage related to a common genetic abnormality, and wanted reassurance about the baby’s health. I felt that if I knew the derivation was from genetic causes and I could deter that from happening again, why wouldn’t I?

Eventually, we proceeded with our first round of IVF with PGD. PGD is an investment; I like to remind myself that college will be far more expensive and I got to accrue some Marriott points along the way (which made our babymoon even more special!). I am fortunate that this was the only cost I had to incur to conceive and I know others aren’t as lucky. These decisions aren’t easy but for me it was a no-brainer. When the nurse called the morning of my IVF transfer to inform me that two of my embryos were genetically viable, I saw years of my life reimagined. The land where the children are free was getting closer…

PGD enabled Zoe Ann Shimshak and Isabella Rose Shimshak to begin growing together in my uterus and to come into this world 37 weeks and 2 days later, at a healthy 5 pounds 8 ounces. We are so fortunate to have access to technology that empowers us with data so we can plan for healthy children, and enjoy the peace of mind that comes from knowing our families will be happy and well.

 

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Becca Shimshak is the Executive Director of Uprooted, an organization with the mission to cultivate a pluralistic Jewish healing community to educate, raise awareness, and provide support around fertility challenges.

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.