07 Oct 2014
Posted by Aliyah 
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When you mention getting genetic testing to people or your partner you may be met with a terrified face. But getting the genetic testing is such a important thing to do. What you do with that information is up to you and your partner. That’s the key says Julie, whose daughter has Familial Dysautonomia, a Jewish Genetic Disease.
When Julie was 15 she had been tested for the most common Jewish Genetic Disease, Tay-Sachs, and was found not to be a carrier. But over the next 15 years technology advanced and she had no idea the vast possible new genetic markers and tests were available, and necessary.
I was honored to get to speak with Julie, who desperately wants to share her story as a lesson to others;
“When Miriam was born it was evident she couldn’t suck or swallow. She has had a number of lung infections and now she is fed through a permanent G tube.” I can feel Julie’s smile through the phone, “developmentally, she’s amazing. She is very social and smart. The main issue is her regulatory system doesn’t work properly, for example, she doesn’t feel pain the same way.”
“The hardest part is knowing she is in pain and there is nothing I can do.”
At 18 months old Miriam was diagnosed with Familial Dysautonomia which affects the autonomic and sensory nervous systems malfunction. Symptoms vary, and may include insensitivity to pain, unstable blood pressure and body temperature, absence of overflow tears, frequent pneumonia, and poor growth.
“The hardest part is knowing she is in pain and there is nothing I can do. We had to bring her home from camp because she was nauseous and sick. What I see is how I feel right before I throw up. That’s how I think she feels, she feels gross. We live with that.”
“Whatever the result, you can make an informed decision. Whatever that may be. It’s true what they say. Knowledge is power.”
“I wish I had been tested [again]. I love my kid, but I could have had another kid that wouldn’t have to suffer everyday. As parents, we can handle what we’ve been given because we would do anything for our kids. But it’s not about me, it’s about her and how she suffers. She cannot live a “normal life” and she is aware of that. She can talk to me about it and that’s cool, but at the same time she’s becoming more aware and is asking questions.”
I asked Julie why it is so important to her that couples do genetic testing?
“I think the most powerful thing someone said to me was, ‘there is so much that we cannot control and protect our kids. But if you have the opportunity to avoid, and you can, by doing a simple blood test’. You can have the knowledge to make an informed decision. It is so painless. Whatever the result, you can make an informed decision. Whatever that may be. It’s true what they say. Knowledge is power.”
Julie told me about one site, jscreen.org, where you can order a kit to your home for anywhere in the US, but she says, “everyone should consult their doctors and find out about the best way to get tested depending on where they live. jscreen is one example but there are certainly others.” Talk to whomever you feel most comfortable, whether that be your rabbi, doctor, or there are even genetic counsellors. Stay tuned for our follow up post next month with more information.
Columbia will be holding Jewish Genetic Screen Testing open to students and anyone else. Fill out this quick form for more information http://tinyurl.com/m7u7f63
“I know it’s scary. It’s scary to think about, but like anything else you don’t want to think about the worst things that can happen in life. You still have to talk about life insurance, writing up a will. This is just another insurance policy so that you have some control over bad things that can happen. If there’s something wrong at least you can do something about it.”
Have you been tested? What questions would you ask your doctor or rabbi? Share your comments below.
Check out our full medical post about Genetic Testing here.
