Today is World Rare Disease Day. This day has come to mean a lot to our family since Siena was diagnosed with Prader-Willi Syndrome, but this year it hits even closer to home. In January Siena spent a week at Nemours Children’s Hospital after they discovered an abdominal abscess causing a life threatening infection. Twice she had been sent home from a local hospital with the diagnosis of constipation, and I cannot even stomach to think about what could have been, were it not for our gut instincts, knowledge of PWS and guidance from Siena’s PWS specialist/endocrinologist. We still do not know what caused the abscess, and are left with more questions and more of the unknown.
This entire experience has truly opened my eyes to the importance of advocating for our Rare Disease community. So today I ask you to wear your favorite pair of jeans in support of RARE DISEASE DAY and our girl Siena and if you tell just one person about the meaning of this day, you never know what impact that could have on the future of Rare Disease. #WRDD2017 https://globalgenes.org/
Siena is making a speedy recovery after her third bilateral myringotomy (ear tube surgery) yesterday and told me last night her ears feel better. It was quite amazing to me how different our experience was yesterday compared to 2011 when Siena was first diagnosed. I remember just 5 years ago feeling that even the staff at Nemours knew very little about Prader-Willi Syndrome. But yesterday was not like that at all – I didn’t feel like I was speaking a different language. Even the cardiologist in Hershey seemed knowledgeable about PWS.
ALL OF THIS TO SAY THANK YOU. Thank you to each of you who have told someone else about Prader-Willi Syndrome and have helped us spread awareness. Thank you to each of you who year after year attended Siena’s PWS Walks. And thank you to everyone who recently donated to Siena’s Foundation for Prader-Willi Research fundraising page, which raised almost $4000! In just a little over 60 days the PWS community raised $1,388,000 – all of which was MATCHED by Leon and Irina Shaulov (parents of a son with PWS)! These are the reasons we feel more confident every day that Siena will be able to accomplish anything her sweet little heart desires!
We work hard as a family to keep Siena safe and strong, but if it were not for all of you, I am certain we would not be where we are today. So sending a HUGE hug to EVERYONE and wishing you and yours a healthy and happy 2017! MUCH LOVE & GRATITUDE TO YOU ALL ! xoxo
One last thing: If you are still looking to donate to FPWR, inspired by the Shaulov’s generous matching gift, the Grandparents of a child with PWS have pledged to match donations through the end of the year (up to $50,000)! Here is Siena’s page link!
In a day of reading post after post filled with anger and dread, I would like to distract your attention with a story about acceptance and kindness….
As I watch my girls at gymnastics every Wednesday evening, I see Isla perfecting her handstands, Lucca practicing her cartwheels and Siena working her hardest to keep up with the other kiddos in her class… I will often notice some of them becoming frustrated with her speed and they will sometimes skip ahead of her so they don’t have to wait – Siena does not mind and I do not blame the kids at all, but it does at times leave me with a heavy heart….
BUT TONIGHT….TONIGHT WAS SO DIFFERENT. I found Siena on the bars and noticed a girl in her group talking to her and trying to help her swing to kick the block like they were supposed to at that station. The girl then moves to the next bar and tells Siena to come along, she proceeds to drag a heavy mat over for Siena to stand on so she could reach the bar. My eyes were glued, my arms had goose bumps….no heavy heart here tonight folks… instead it is exploding with JOY, HOPE & OPTIMISM. I wanted to jump over the balcony and hug that little girl! However, I did contain myself and instead thanked her after class and told her father how she had warmed my heart…. I do hope this has warmed your heart as well.
When Siena was first diagnosed in March 2011 with Prader-Willi Syndrome we were given the lengthy list of all the characteristics associated with this rare disease. At the time, the thing that hit me the hardest was when they told me she would most likely never have children or live on her own.
A few weeks ago I was going through Siena’s worksheets from school and came upon this one that immediately brought back all of the emotions I had 5 1/2 years ago and my heart was in my stomach. And then I showed my husband, and he said, “Jamie, Siena could be a mom.” His positivity is what gets me through most days, and his words have become my mantra ever since.
And after attending the conference in Rhode Island this past weekend with so many other positive families, doctors and scientists, I am convinced more than ever that the road to Siena living an independent life is being paved by The Foundation for Prader-Willi Research and all of the family and friends supporting it…..and maybe, just maybe… one day Siena WILL be a mom OR ANYTHING her sweet little heart desires!
SOOOO everyone LOVES to get a deal, right??? Well, RIGHT NOW there is an amazing opportunity to double your money! A very generous family, Leon and Irina Shaulov, have pledged to match EVERY SINGLE DOLLAR raised for FPWR from now until Thanksgiving Day, November 24th. That means whatever you donate will be DOUBLED to fund research and find a cure for our kids.
Since we did not have a walk this fall and many of you have asked how you could help this year, we are asking that you consider making a donation of any amount. Thank you to all of our family and friends for everything you do for us and for all the love you give our Siena Eve! This is an exciting time. We remain hopeful that Siena, and all her friends, will — one day — live an independent life!
CLICK HERE for Siena’s donation page:
The photographer for this story spent two weeks with this family to try to gain a better knowledge of Prader-Willi Syndrome – amazing work!
Remembering this day 6 years ago and all the moments in between. Happy Birthday to our Sweetest Siena! Xo