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World RTS Day 2016: Beyond the Medical Facts

world-rts-dayToday is World Rubinstein-Taybi Syndrome Day! World RTS Day is recognized each year on July 3rd. For the past several years, I have shared our story and various medical facts about RTS to raise awareness of this rare condition. (You can read those posts here and here.) While the medical facts are extremely important to know and understand, I have also realized that sharing our life experiences is equally important. Sharing medical facts is important because you never know who you might reach. Perhaps, there is a family out there like us, living in the dark, not knowing what is going on with their child, with a team of doctors baffled and scratching their heads – that family can use the medical facts to finally find answers for their child. That family might not have to wait 2 years for a diagnosis like we did. On the other side, we have to go beyond just the medical facts. We must share our life experiences so that people know what life is really like for individuals with Rubinstein-Taybi Syndrome – it isn’t always as it is portrayed in the research.

So, this year I want to go beyond the Medical Facts. If you’ve followed our blog and Facebook page, you have a great insight into our lives and our journey with Rubinstein-Taybi Syndrome. For those who are new to our journey or parents learning their child’s diagnosis for the first time, here are just a few things I want you to know about RTS this year.

Rubinstein-Taybi Syndrome is not terminal, but it is lifelong. Because of the diagnosis, there are challenges our children will face their entire lives with communication, gross motor skills, dexterity, endurance, living independently, and much more. But, this is not something to be pitied. Our children are resilient. They learn to experience their world in ways we might not have ever imagined. It might take them longer to get there, but they do attain skills like walking, running, jumping, climbing, and much more.

Our children are capable of so much! When I first learned about our diagnosis, words like cancer, developmental delay, musculoskeletal issues jumped off the screen. I immediately began thinking of all the things Braxton would never get to do. He’d never throw a baseball with his dad, never ride a bike, never play on a playground. But, when I joined a Facebook group for families of children with RTS, I found hope. There were families who had children playing baseball, swimming, running, and Special Olympic athletes. I realized that despite what the research said, Braxton had endless opportunities. And, look at him now…. Braxton played Baseball with Miracle League this year, he’s learning to ride his AmTryke tricycle, he loves being in the water, and he enjoys swinging with his sister.

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Our children exude love and happiness. No, not every day is sunshine and rainbows, but most of the time our sweet kiddos have a smile on their face. Don’t get me wrong though, Braxton has a temper like no other! I’m willing to overlook that some days when he flashes that big smile and wraps his arms around me for a big bear hug. 😉 Braxton knows no strangers. He sees the good in all of us and loves unconditionally. The smile is the one almost universal characteristic trait of Rubinstein-Taybi Syndrome.

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The medical challenges are tough and often difficult to handle, especially in the first couple of years. Although we did not have a diagnosis, Braxton’s first two years were incredibly difficult for us. On top of not knowing what was going on with him, we saw over a dozen specialists, he had several surgeries and medical procedures, he was hospitalized once for pneumonia, and he was sick constantly with colds, sinus infections, and ear infections. However, despite these challenges, it DOES GET BETTER! Braxton has been medically stable for the last 3 years. He is making great progress, achieving therapy goals, and staying healthy. We still have all of our specialists, but our visits are down to annual visits and some doctors have simply said, “He looks great, call us if you need us!” I know how difficult those early years are, but hang in there, there is a light at the end of the tunnel.

The fear and the worry never go away, but they do get quieter. I was terrified in the early days and again after getting our diagnosis and reading the medical research on RTS. But, now 3 years after our diagnosis, the fear and the worry no longer consume my life. They are always there in the back of my mind and with every cough, every sniffle, every fall, I wonder if this is going to be the event that turns our world upside down all over again.  I hold my breath for a moment and then I remember to breathe. I can tell you not to worry, not to be scared, but who am I kidding, it’s our parental instinct to worry and be scared for our babies. So, instead I’ll tell you that it’s okay to be worried and be scared, but don’t let it keep you and your baby from living life. Take chances, take risks, hold your breath, but don’t forget to breathe.

Rubinstein-Taybi Syndrome is a diagnosis that is a large part of our child’s life and shapes the experiences and the way our children interact with the world around them. It has it’s challenges, it’s highs and lows, but doesn’t prevent us from living life. I want you to know about the medical facts, how rare it is, and how it effects us, but I also want you to know that our children have the same life experiences as other children. They may require some accommodation and do things a little bit differently, but they love big, play sports, dream, and learn just the same. Learn what makes our babies different, but also learn what makes us the same. Then, we not only have awareness, but we also have inclusion, acceptance, tolerance.

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World RTS Day

World RTS Day

 

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!

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