We Can Do It Together

/
We Can Do It Together

I sat at a nearby bar long after the fundraiser was over talking with Jean.  We talked about the joys and the struggles of raising a child with special needs.  As we talked, I was reminded of my own experience after Taylor was diagnosed in January of 2018. After the initial impact of receiving an official diagnosis, I wanted to know how I could help.  I wanted to find out as much as I could about the condition. I wanted to connect with other families.  I wanted to raise awareness for a genetic condition so obscure, only 300 people are diagnosed to date.  I wanted to do EVERYTHING I could to set Taylor up for success.  

Read More

Top 9 Issues Facing the Rare Disease Community

/
Top 9 Issues Facing the Rare Disease Community

Rare isn’t really all that rare….according to the National Organization for Rare Disorders (NORD) 1 in 10 people live with a rare disease, and this does not include the millions, living with an undiagnosed, rare condition. About 7,000 rare diseases have been identified and advances in genomic testing are finally allowing us to identify and discover new conditions.  However, the journey does not end with a diagnosis.  The fight for appropriate medical care and services is ongoing in the rare disease community. Here, we highlight nine of the most significant issues affecting the rare disease community (and as you will see, one thing can lead to another):

Read More

Together We Can Do Something Wonderful

/
Together We Can Do Something Wonderful

One of my favorite quotes is from Mother Teresa: “None of us, including me, ever do great things.  But we can all do small things, with great love, and together we can do something wonderful.”  Tough Like Taylor’s parents had an opportunity to travel across the pond at the end of June to attend the 3rd Annual PURA Syndrome Conference.  The conference was held in the United Kingdom at the Wellcome Genome Campus, home to the Wellcome Sanger Institute, which is one of the leading genomic research centers in the world.  One third of the human genome was sequenced for the first time on this campus, which provided the largest single contribution of any center to the Human Genome Project (HGP)……pretty cool stuff.  Way over my head…..but pretty cool.

Read More

6 Tips For Talking With Your Child About Disabilities

/
6 Tips For Talking With Your Child About Disabilities

We have all experienced it.....you are having an eventful shopping trip to Target (one where you claim you are going to buy sunscreen, aaaaand $175 later.....)  You have cleared out the store and are waiting patiently in the check-out line.  You look into your shopping cart and see your child staring, aghast at a person in a wheelchair and then loudly proclaiming, "Mommy, why is that boy drooling?!" 

Read More