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We Get By With A Little Help From Our Friends…


Who of us isn’t guilty of it? You have a legal issue you’re worried about, you run it by your friend, the lawyer! Your son’s fever is just a little too high, you call your neighbor, the pediatrician! And when it comes to your friendly neighborhood genetic issues, I often get some of those calls. To be honest, I don’t mind. My genetics knowledge doesn’t help anyone with scraped knees, bad cuts, or medication related worries, but when it comes to genetics issues, I’m your gal!

Recently I had a fantastic conversation with a good friend. It went something like this:

Friend: I have some good news! We’re expecting!

Me: That’s fantastic! I’m so excited for you guys.

Friend: Oh, I have news for you.

Me: More news? (Something more exciting than that you are expecting??)

Friend:  We did the Ashkenazi Jewish genetic testing a couple years ago, neither of us are carriers. I did Fragile X testing, and I’m not a carrier.

Me: That’s great! BUT you should make sure to update your Jewish carrier screening.  There are a few more tests since you guys were tested (I think).

Friend:  Really?

Me: Yea, if you tell me how many you were tested for- I can tell you what you’re missing  and either a genetic counselor or your doctor can order the new ones. My guess is it’s only 2 or 3 more

Friend: Bloom, Canavan,  CF, Familial Dysautonomia, Gaucher, Neimann-Pick, Mucolipidosis type IV, Tay-Sachs. That’s it.

Me: Oh. there are actually many more. Don’t freak out. They are not all super common,  but it’s good to test just to be sure.

The pdf is the list of 18 Jewish genetic diseases +SMA+Fragile X that i give to my patients.

Click to access table%20of%20diseases-AJ%20SMA%20FraX.pdf

Friend: They want me to test for spinal muscular atrophy, too.

Me: Yes, I’d add that on too. It’s not a Jewish genetic disease, it’s common in all populations  but you fall in to the “all populations” category too. Similar to Fragile X.

Bottom line is, I’m grateful that I can be a resource to my friends about all of the “genetic stuff”, as long as they don’t  mind me calling them about my twisted ankle..

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