In honor of Rare Disease Day, I would like to raise awareness and donations for my dear friend’s daughter, Sophie.  Steph, Sophie’s mom, and I have been friends for over 20 years.  To know Steph is to love her. She is and always has been unapologetically herself and that’s what those who are close to her love most.  She married her sweet husband, Josh, and I honestly couldn’t have picked a better person for my friend.  He is a wonderful father and husband, and most importantly, he has put up with all of our antics for all these years.   They have two of the sweetest boys, Josh and Drake.  

They also have 3 yr old Sophie.  I vividly remember Steph and her family coming to  my house for dinner a couple years ago.  I had out my son’s activity seat and said she could put Sophie in it.  I remember Steph hanging her head and saying that Sophie couldn’t sit up.  Like any friend, I told her there was nothing to worry about and that kids all develop at different times.  She said the pediatrician had told her the same thing, but call it a mother’s intuition, Steph knew it was something more than just a delay in development.  Fast forward a few years, many tests, a lot of bloodwork, and tears later, and Sophie was diagnosed with a very rare disease.  She has Adenylosuccinate lyase deficiency.  Sophie is about 1 of 100-150ish in the world with it.  She will require lifelong care, and the prognosis for this disease is not optimistic, which is why it’s so important for Sophie to be able to live each day to the fullest.

About 8 months ago Sophie received stem cell therapy.  Steph was able to see improvement even after just a few days. Sophie was able to start crawling and moving across the floor.  She showed more “presence” and her personality blossomed.  Her legs weren’t as stiff and she was even able to start feeding herself a little.  These are all HUGE for people with this disease.  

Josh and Steph would like to get more stem cell therapy for Sophie, but it’s very expensive and not covered by insurance.  Please consider donating, even if it’s just $1.  Every little bit counts.  Sweet Sophie deserves the best quality of
life possible to her.