2018 rare disease

Today we celebrate Rare Disease Day!  “What does that mean?,” you may ask…

Well, for our family it is a way for us to bring awareness to Prader-Willi Syndrome, to honor our daughter, Siena, who despite all the obstacles she faces, THRIVES while living with this rare disease. She amazes us every day with her wit and charm… and “occasional” stubbornness. Just this morning I was yelling to the other room to my oldest daughter, Isla…”ARE YOU GETTING DRESSED?”… Siena, who was standing beside me, says “Well, I GUARANTEE that’s NOT happening.”  This little girl who had such low muscle tone when she was born that she could not suck from a bottle, didn’t walk until she was two years old, and who we could barely understand just 2 years ago IS NOW learning to read and write and jump and swim and sing and dance and… make jokes!  Her sense of humor leaves us in stitches!

Since Siena was diagnosed in 2011 there have been TREMENDOUS efforts made for the treatment of PWS, but we still do not have a cure.  There may never be a cure, but WE HAVE HOPE that Siena will be able to live an independent life, FULL of happiness and her every dream.  While we would never want to change all of the amazing and RARE qualities that make Siena..well, Siena… we WILL do anything to help eliminate the challenges she faces today and the days that lie ahead.

According to Global Genes, approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.  THANKFULLY, Prader-Willi Syndrome has two amazing resources.  The Prader-Willi Syndrome Association https://www.pwsausa.org/ and the Foundation for Prader-Willi Research https://www.fpwr.org/ (and YES! you will see Siena on FPWR’s website! xo).

Over the past 7 years we have supported FPWR and their research efforts to ensure that the most important scientific research is funded to find treatments for the many complications of PWS. Today there are many drugs in clinical trials that have the potential to change Siena’s future and possibly afford her that independent future that we dream of for her. In honor of Rare Disease Day and Siena, we’ll be giving to FPWR. If you feel inclined to give to a charity for Rare Disease Day, FPWR’s Board of Directors will be matching up to $10,000, so you can double your impact! https://research.fpwr.org/donate  (AND ANOTHER BONUS…IF YOU CLICK ON THIS LINK YOU WILL ALSO SEE SIENA WITH HER SISTERS!!!!!!)

RARE FACT : In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population.  IF  YOU KNOW SOMEONE LIVING WITH A RARE DISEASE GIVE THEM A SPECIAL SHOUT OUT TODAY.

And as always, THANK YOU, THANK YOU, THANK YOU for your love & support. xo



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