Parents: Erin (mom) and Andy (dad)
Child with Rett syndrome: Penelope (Penny), age 10, diagnosed at age 3
Brother: Jacob, age 6
How does Penny inspire you?
Penny Works so hard. Like all people with Rett syndrome, everything is harder for her, but she always tries. Even on her worst days she still tries to communicate with her Tobii to make that connection with us.
She also makes an impact on everyone she meets. So often when we are out in our community, other kids come up to her to say hello. I often have no idea who they are, but they know Penny and she's always thrilled to see them.
What does your family like to do to spend time together?
Traveling with Penny is hard, and gets even harder the older she gets, but we do it. We take a trip to the beach every summer. We rent a beach wheelchair, and she gets to enjoy the beach and the water with us. We all look forward to it!
This October we will be going to Disney on her “Make a Wish” trip! It was postponed two years due to the pandemic, so we are all very excited to finally be going.
What’s the relationship like between Penny and Jacob?
Jacob always makes sure that people say “hi” to Penny, that they talk to her, not just about her. He makes sure that she is involved in conversations with others, and he loves to explain how her Tobii eye gaze device works!
How have you and your family taken action to accelerate a cure for Rett syndrome?
I have helped organize an event called Reverse Rett Philadelphia three times now. It's a lot of work but I'm proud to help.
Our family and friends have been extremely supportive of our fundraisers. We couldn't do it without them! They have been so generous over the years and continue to help us raise awareness of Rett syndrome.
What has surprised you about getting involved in fundraising for Rett research?
I've learned it's a small world. You never know who you are going to meet who has a connection to Rett syndrome. I have a Rett awareness sticker on our van, and someone stopped me at the Costco gas station while I was pumping gas to tell me about their friend whose daughter has Rett as well. I told him all about our upcoming fundraiser, and he wanted to donate!
There is always a reason to be hopeful about Rett research and a cure.
What is your advice for a family who has recently received the Rett diagnosis?
Take it one day at a time. It's a very overwhelming and emotional time when you first get a diagnosis. There is so much to learn. The thing that helped me the most was meeting other moms who were further along in their Rett journey. They helped show me that everything was going to be okay, and I try to do that now for new families.