5 Lessons Learned Since The Diagnosis

5 Lessons Learned Since The Diagnosis

One year…..One year since we received the call that would firmly change the projected path of our lives.  Early in the morning on January 11th, 2018, we received answers for our daughter’s developmental delays.  PURA Syndrome - the first time I would hear the name of this rare genetic condition.  Knowing provided answers, and a community, yet also leaves us with many questions, as is the case with most rare diseases.

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Top Four Posts of 2018

Top Four Posts of 2018

I started this blog in May of 2018, about four months after Taylor was diagnosed with PURA Syndrome, a rare genetic condition affecting approximately 200 individuals worldwide. I wasn’t really sure what I wanted to do with it at the time, but I knew I wanted a quick way to update the many people who are very interested in Taylor’s life, and also wanted to bring awareness to my daughter’s condition and other rare diseases.

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Give Thanks

Give Thanks

Thanksgiving is upon us!! We love this time of year.  Our family views it as a time to come together and reflect on the blessings of the last year.  2018 has not been the easiest year for our family, considering we received a diagnosis for our daughter, Taylor, which explained her significant developmental delays, but despite that, we are trying to approach life with thankfulness and gratitude.

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Coincidence or Sublime Plan?

Coincidence or Sublime Plan?

My husband and I recently decided we wanted to start the process of looking for a new home.  We have been living in a tiny two-bedroom condo for the last several years, one we bought shortly after the recession for an amazing price.  As I reflect, we weren’t even planning to buy the condo.  Back then, we were a newly married couple looking to move a little closer to the city.  We met with the previous owner, a sweet, recently widowed retiree, with the intention of renting. 

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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.

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