If you have been following our story from the beginning, you’ll know that over the past year we have celebrated many many awareness days along this journey to diagnosis. In April, we finally got the diagnosis that has connected us with a fantastic worldwide support group and I’m very fortunate to share in our first World RTS day with this new family.
This doesn’t mean that we will abandon some of the days we’ve celebrated or stop trying to help raise awareness, because they are really all so very important. We will continue to celebrate Feeding Tube Awareness Week, as Braxton’s feeding tube has become such an integral part of our life. It’s such a part of our life that it’s just “normal” for us, so much so that I forget to even mention it as part of Braxton’s medical condition sometimes, because that’s just the way things are. I don’t even think of it as anything different or awkward anymore. Crazy how that happens. We will still celebrate Rare Disease Day, and this time we have a name to represent as well. And I will always, always have a place in my heart for the Undiagnosed community and Undiagnosed Children’s Day. I will continue to help in that mission in giving these children a voice and helping them to find the resources they need in their journey to diagnosis. Although we have an answer, there are still SO MANY searching and we continue to support them every step of the way.
The last few months have been full of so much research and learning everything I can about Rubinstein-Taybi Syndrome. As I learn, I’m excited to share everything I can through our blog and our facebook page to help others learn about RTS. Awareness is the key to funding research and finding answers. Thankfully, there is some research available, but there is still so much to learn about RTS, why it happens, and how it really affects an individual. I’m so lucky to now have the chance and platform to do my part in raising awareness.
The RTS community has been phenomenal in this short period of time since we have joined. I have had the pleasure of speaking to several parents who have a child with RTS ranging in age from an infant to adult. I’ve celebrated birthdays with them virtually and milestones and really have so much more hope for our future. Having a support group to reach out to when you have questions is so important because you learn about so many different experiences. I’ve learned that this community is really like a family. Everyone is incredibly supportive and encouraging through everything.
I’m really looking forward to possibly attending one of the RTS reunions next year so that we can finally meet some other families in person. Things just didn’t work out this year for us to attend, but I know to keep an eye out next year so we can make plans! You really don’t understand how exciting that is for us. It’s nice to see the community coming together and making these meet-ups happen. As Braxton gets older, it will be nice for him to be around kids who look like him and share his experiences. Hard as we try to include Braxton in everything and not make him feel “different”, he will eventually understand that he is, so having the opportunity to interact with other children with RTS will be great for him in the long run. It will also be a good chance for Aileen to meet other siblings and make friends who understand exactly how she is feeling.
Since receiving our diagnosis, Braxton has made some really incredible progress! I know now that the average age children with RTS learn to walk is around 2 1/2 years old and Braxton is almost there! He is very actively working on cruising around furniture. He’s tolerating standing a little more than he used to. He used to just drop immediately and crawl off, but we’ve been able to get him to stand longer and even without support a few times! I’ve watched him cruise around our coffee table and transition to our couch without hesitation several times. It’s just a matter of time before he takes off on us! He is still working on verbalizing. Braxton makes lots of sounds and loves to laugh. He still hasn’t said any words, but he’s trying. He’s also getting really good at using the iPad which will be great when we start looking at communication programs.
We’re still very new to our diagnosis, but we’ve learned a lot from research and through talking to other families. I look forward to Braxton’s continued progress and getting to know our RTS family much better in the years to come. I encourage you to learn more and share our story with others to promote awareness. Every like, share, or comment is one more person who has at least heard of Rubinstein-Taybi Syndrome and that means so much to us. Thank you for joining us on this journey. I hope you stick around because you don’t want to miss all of the amazing things I’m sure Braxton has in store for us all.
To our RTS brothers and sisters, today we celebrate with you! Happy World RTS Day!