Wednesday, October 23, 2013

We Are Published....

Please read this will be over most of your heads...however, Ian is the 9-year-old boy in the article. Hoping some new families come out .... a very special thanks to Lelia Jamal and Dr. Raymond...we would not be where we are without either one of you.

Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

1 comment:

Anonymous said...

Shelly Thompson Wow!

Annelise Sullivan Ditto to Shelly's comment. Not a good reason to get published, but hopefully Ian's story will help other families in the future.

Carrie Levin Weitzman Hopefully, getting published will shed a light for some families desperately looking for a diagnosis for their son or daughter. This could also lead to families coming forward to allow for research. Would it help to have more relatives tested for this genetic variant? I would be happy to help in any way I could. I am thinking of you!

Mark Brodinsky Keep getting the message out there, as you mentioned you want others to know about this, so they can be tested and prepared.

Marci Weinberg Scher Carrie Levin Weitzman you don't have to be tested unless you are planning on having more children, but it is something for you to keep in mind to pass along to your kids so when the time comes they can be tested to know if they are carriers. As we don't know which one of our parents if not both of them are carriers, we can't turn around to say you do or don't have to have your kids tested.

Mindy Hammerman Lipsey We tested all our kids for them to know regarding having families of their own one day. While we discovered my daughter isn't even a carrier, the boys have a much greater chance of having a child with the same retinal eye disease since they already carry two mutations. Anyone they marry is automatically a carrier. In our field, they had a husband and wife test their embryos and they had a healthy child; however you have to think about the remaining embryos and playing "G-d". Something to think about as my boys find special women in their lives. Now I just have to get through today! PS - I know many people who choose not to test their other children as they would rather not know. Personal choice I suppose. I'm all about "knowledge is empowering".

Marci Weinberg Scher Mindy Hammerman Lipsey we have had Becca tested and know she is a carrier. We are working on making sure as many relatives know about testing as well but most insurance companies are not going to test the old generations to see if they are carriers or not as it does not affect them having more kids or not. Make sense?

Michelle Kampler Schwartz What a way to be published and get famous...BUT - Ian is paving the way for others and one day they will figure out this disease, too. I believe that.
October 24, 2013 at 12:39pm · Unlike · 1
Michelle Kampler Schwartz
Michelle Kampler Schwartz Btw - is that part of the genetic screening that the J organizations do?

Marci Weinberg Scher Michelle Kampler Schwartz, I agree with you...regarding figure it out. As for the being part of the genetic screening that the J organizations do no, maybe one day. With only 4 of the 6 cases being J, not enough data to support it.

Michelle Kampler Schwartz Hmm...need to ask my pediatrician daughter about that... IAN is a WARRIOR! I love that boy. <3

Carrie Levin Weitzman If it would help in regards to research, I would get tested and depending on the results, test my kids. Just putting it out there.

Marci Weinberg Scher Thanks Carrie Weitzman I will let them know.

Amy Eisenberg Samay I'm so glad they published this article and hope it leads to other families not needing to spend years like you did searching for a diagnosis and answers. I can see why they don't currently include this test on the "Jewish Panel" of genetic tests because of it's overall rarity, but 4 out of 6 still seems like a lot. Maybe one day as more data is gathered, it will be added. I tested as a carrier for one of the diseases on the Jewish panel, and it was so interesting to me that it had a prevalence of 1 in 8 in the Jewish population, yet I had never heard of it before (Gaucher's). Knowledge is power, yet as a Jewish woman there was so much I didn't know before being tested.