Tags » Tay Sachs

Finally! A Genetic Test for Sephardi and Mizrahis Too

For years, when we got inquiries from Sephardi or Mizrahi patients about preconception genetic testing, we would respond that there is currently no testing panel as there is for our Ashkenazi patients. 616 more words

Program For Jewish Genetic Health

Day +1,500 and 2 days till officially 5 years old

Thank you, thank you, thank you for your continued love and prayers! Isaac continues to be a a miracle and proof of the power of prayer. 454 more words

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The Most Special Boy, www.taspo.org

Today I want to share the most profound encounter I can remember having. This is an excerpt from the TSAPO website written by Michelle, Ethan’s mom. 871 more words

Sensory play

Santa brought these fun beads to Isaac for Christmas and I just remembered them and hydrated a few.


He was interested in the texture and temperature. 26 more words

Photos

Family Visit Recap in pictures 

We visited Grampy and Grammy in Tucson to celebrate their retirements mid-June.

Hopefully that means lots more of this:

Isaac appears to be blowing a kiss to Grammy here: … 184 more words

Photos

Gene Therapy and a Birthday Party

Every time I visit Steve Gray and the University of North Carolina Gene Therapy Center, I want to run home and immediately write a blog post and email all of my media contacts and friends in the rare disease community and tell them what’s happening in a lab two hours from my hometown. 445 more words

Infantile Batten Disease

Day +1,334 Spring and back to Busy!

Hello all and thank you for your prayers! As you may have seen on Facebook, Winter seemed to last forever and Isaac was sick continuously from the day after his birthday in November until April and then he had another cold or two after that! 385 more words