My Why: Ella Schilling
By: Brian and Michele Schilling
What happens when you or someone you love is diagnosed with a rare genetic syndrome? What if there was so little information about this rare syndrome that not even the doctor delivering the diagnosis knows what it is or what the future holds? What if this was your child? And most importantly, what if you could make a difference?
When our daughter was first diagnosed with Pitt Hopkins Syndrome (PTHS), we did not know where to turn or where to look for help. We had so many questions and wanted answers as quick as we could find them. But there were no immediate answers and no real information to help us. We were stuck searching for answers and more specifically what the future meant for our then four month old daughter, Ella. Pitt Hopkins Syndrome (PTHS) was so rare that there really was no information about developmental treatments, medical treatments, or studies on what could improve the quality of life. So if the opportunity arose to help in some way, would we jump on it? The answer is absolutely. When there was no government funding, we realized we had to this with the help of others, other PTHS families. We needed to be the ones to raise awareness so that others in the medical community and in our own towns, neighborhoods, and local medical establishments knew what Pitt Hopkins was.
In 2012 we hosted our first fundraiser, Ella’s Bounce Extravaganza in place of Ella’s 2nd birthday party. At this event, our family’s goal was to raise money for research. The current research was limited and we knew that our family had to focus on helping to support any opportunities for research. What if there was some sort of medication or therapy out there that could help our daughter?
When the research began, the opportunities we were looking for started to open and we don’t want that door to close. Research is moving forward each and every year and we are closer to finding answers than we were yesterday. We will do everything in our power to keep that momentum going forward. Fundraising is an easy decision for our family with so many benefits:
- Raises awareness of PTHS in both your social community and the medical world.
- Opens the door of communication in your community about your child.
- Gives people the opportunity to help you.
- Give YOU the feeling that YOU are first hand doing something to help your child.
That is why we fundraise each and every year. Our community has been so supportive of our events and has also joined us in our journey to fund PTHS research. We will not stop and we can only get closer to finding answers.
