Child with Rett syndrome: Ruby, age 13, diagnosed at 18 months
Siblings: Sam, age 11, Francie, age 9
How does Ruby inspire you?
Ruby continues to work so hard to do things that come so easily to all of us. She is so patient with us, and it must be really hard to depend on another person for every single thing. Ruby has to face really tough things, such as seizures, spinal surgery, loneliness, dependence, lots of doctors and hospitals, and the very difficult diagnosis of Rett syndrome. She does so every day with extraordinary courage.
What does your family like to do to spend time together?
We are a very active family and prioritize Ruby’s inclusion in everything we do! We go skiing together, and we recently got a Mountain Man junior sled so that we can go wherever we want and not be dependent on adaptive ski programs. We do love adaptive ski programs, including Mount Sunapee and the New England Healing Sports Association in New Hampshire. We also tried Breckenridge Outdoor Education Center in Colorado, which was beautiful.
We also take Ruby to play golf. She rides around our neighborhood in a golf cart so that she can hang with her neighborhood peers. Ruby also participates in equine therapy, and she helps groom the horses at her grandparents’ place. Just to get her up, we get her in her stander whenever and wherever possible.
We also love water sports, we go kayaking, and we like to float in lakes and pools. We have even tried water skiing with the Leap of Faith group in Sandy Hook, Conn. Ruby also participates in aquatic therapy.
We’re Looking for a good dance group if anyone has ideas!
Can you share a Rett-related story about something that made you extra proud of your other children?
Ruby's younger brother and sister are incredible. Once, when her brother, Sam, was 2 and Ruby was 4, we were out on a really hot summer day. We had just gotten back to the car and put Ru in her car seat. As we were loading in her stroller, Sam had already gotten Ruby a drink and was feeding it to her, before he even got a drink for himself. He was only 2, and he was giving his big sister a drink. Our two kids are always thinking about her.
How have you taken action to accelerate a cure for Rett syndrome?
When Ruby was diagnosed, we sent a letter to all of our family and friends explaining her diagnosis and what Rett syndrome is. We shared how we were feeling and how they could support us, especially by explaining Rett to their children and by carving out a safe and accepting space in this world for Ru and our family. Since that time our friends and family have been in all of this with us. They are Ru’s Crew.
How has your community of family, friends, colleagues, neighbors, etc. reacted to your outreach to raise awareness and fundraising for a Rett cure?
They have been incredible. Our friends’ children have had bake sales and lemonade stands to help raise funds and awareness. They have had campaigns to wear your shirt backwards to “Reverse Rett” and increase peer awareness. They have made Ru’s Crew t-shirts and bracelets to show support and spread awareness. They have done school projects on Rett to teach others, and currently there is Operation Smartie in our middle school to raise money for RSRT, organized by one of Ruby’s friends at school. When Ruby was diagnosed my family and friends started an event to raise research funds in Maryland called Art for Ruby. That ran for a few years. Simultaneously we joined the Reverse Rett NYC event, which we continue to be involved in.
When you’ve been involved in raising awareness and fundraising, has there been anything surprising to you in terms of what you’ve learned?
Really just that we are all connected. Showing your vulnerability and asking for help can feel awkward, but all of us will need help at some point. People feel like they can share more with us and ask for help because we have done the same with them.
Please share some reasons you are hopeful about the current research for a Rett cure.
I feel like there is good research to support that Rett symptoms can be improved and possibly reversed. I also think that gene therapy and genetic research have made incredible strides recently. We are very hopeful. Any improvement for our children would be meaningful.
What is your advice for a family who has recently received the Rett diagnosis?
I would have hope, because we have something to be hopeful for with the incredibly promising research. I also think it’s a really good idea to write a letter to everyone in your life to tell them how to support you and let them know what’s happening in your life and the lives of your family. It’s so much better than having an awkwardly emotional conversation when you run into them. It will carve out a space of love and support for you and your child.