Tags » Tay Sachs

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


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


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


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

Rare Disease Advocacy Groups Receiving FDA Orphan Designations

Rare disease patient families are setting up not-for-profit organizations, leading the way for funding research and accelerating the drug approval process. This Blog Post looks at two rare disease advocacy groups that have received FDA Orphan Drug Designation (ODD) for novel gene therapies: 527 more words

Orphan Drug Development