Tag Archives: rubinstein-taybi syndrome

The Sweetest Word

For 6 years I have waited.

I have prayed.

I have dreamed.

In my dreams, I hear your precious voice. I feel the joy in my soul and pride in my heart with every spoken word. But, sadly, I awaken to see you sleeping and I know that it was just a dream. Sometimes, I  wipe the hot tears of sadness from my face as I squeeze you tightly and wish one more time, that one day, I will awaken to the sound of your voice.

Last night was different. As I lay next to you knowingly wide awake, the two of us, I heard it. The first word. It was just 3 little letters in a brief, fleeting moment. It was slow and deliberate. I quickly pulled out my camera and asked you to say it again. You spoke the word, beamed with pride, reached out for a hug, and then slowly drifted off to sleep.

As the video replayed, my heart leapt from my chest and I felt the familiar feeling of hot tears rolling down my face, but this time…this time, they were tears of joy. Never has the word “Mom” sounded so sweet and meant so much. This time, I cried myself to sleep happier than ever.

Lest I think it was a fluke, today, I have asked you time and time again, and every time I hear you say “Mom”, my heart melts.

You have had many sounds for so long, but today was the first time they held meaning. The first time you looked directly in to my eyes and said what I have been longing to hear. The first time they were more than a button on your iPad. As I listened to your baby sister coo and babble, my heart hurt thinking she would reach this milestone before you. You have worked so hard for so long, and today, that hurt was replaced with a renewed hope that soon, we will hear all of the words you have been waiting to speak. All the words we have been waiting to hear.

 

[The following is compilation of videos I have taken from last night and today. The first video is from last night, when Braxton first said “Mom.” The other clips are from throughout the day and include us talking and making other sounds so you can see the differentiation between his sounds and the very deliberate, “Mom.”] ❤

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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.

BraxtonRTSProfile

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An Unexpected Setback

Braxton had a follow-up Swallow Study today and we got some unexpected news.

A few weeks ago we followed up with our Sleep Doctor/ Pulmonologist and I mentioned to the PA that Braxton had recently started making a strange noise while he was eating, like he was clearing his throat and then swallowing his food. I didn’t think much of it until we were at the appointment and something told me I should tell the doctor about it, considering Braxton’s history of aspiration (swallowing liquid into his lungs). The PA was concerned enough to talk to our main pulmonologist who decided we should order a new swallow study. She also listened to his lungs to make sure they were clear, and they were.

Here is a video of what we were seeing:

 

We didn’t make any feeding changes and I made sure to talk to our Speech and Occupational Therapists, we were all stumped. Our Speech Therapist thought it could have something to do with all the ear trouble we have been having this summer since the ear and throat are all connected. It would certainly make sense if swallowing was hurting his ears and he was trying to relieve the pressure or whatever it is he was feeling. He still seemed to be swallowing normally and wasn’t showing any signs of aspiration, so we continued with our current feeding regimen.

IMG_2347Today we finally had the swallow study. I went in not expecting much of anything, but we may have a new issue to worry about.

During the test the speech therapist and the tech kept saying they saw Braxton regurgitating the food which is part of the reason we are seeing multiple swallows and the throat clearing. There were also a couple instances where it appeared he *might* be aspirating again. He was surprisingly calm and cooperative the entire time, so aside from the Barium not being so tasty, he did exactly what we would see at home. Once completed, we sat in the waiting room while the speech therapist and tech reviewed the recording to discuss their findings and recommendations with us. It took much longer than it has in the past.

 

The speech therapist finally came out and let us know that while she is not able to give us an official diagnosis, what she was seeing appeared to be an esophageal dysfunction. When you eat, your esophageal sphincter opens to allow the food to pass and then it closes so that air does not enter. Braxton’s upper esophageal sphincter is sometimes opening properly and other times it is opening and closing before his food gets to the esophagus. And there are times that the esophagus regurgitates the food which gives him trouble with swallowing. She also noted that even when everything works properly he is taking two or more swallows per bite.

So, now we need to figure out what exactly is going on with his esophagus. We’re looking at some kind of structural anomaly that we haven’t seen before. The speech therapist said she’s never seen what she saw today with Braxton. She also called in another radiologist who also said she’d never seen this. (Of course! Braxton has always been quite the medical mystery).  The plan for now is continue with oral feeds, but she was insistent that we proceed with caution since we don’t know what is really happening. We will need to cut back on his food and give him smaller bites since he did seem to tolerate that better than the larger bites. She will also be making a recommendation for us to get back in to the Aerodigestive Clinic so that our ENT, GI, Pulmonologist and a Speech Therapist will all be able to see him at the same time so we can all discuss what’s going on and formulate a plan.

I’m really not sure where we go from here, but obviously, this was not the news we were expecting. This could explain why we have had some difficulty getting Braxton to move up to thicker foods and different textures. Cutting back on feeds will certainly be a setback we didn’t expect. But, like all things, I know we will make it through.  I hope we can get some answers and clarity very soon. And to think I almost didn’t even bring it up to the doctor!

I am doing my best to stay away from Dr. Google today and patiently waiting for a follow-up with our doctors. Braxton and I enjoyed some time outside this afternoon on his new swingset. His sweet smiles and laughter filled my heart, and for a moment all was right in the world.

 

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So will he ever speak?

When Braxton first got his G-tube at 2 weeks old, inevitably the first question I was asked after explaining his tube to family, friends, and strangers was, “So will he ever be able to eat by mouth?” For the longest time my response was, “I don’t know,” and we genuinely did not know. Once we started working with a Speech Therapist and making progress, that “I don’t know,” turned into “Yea, more than likely he will be able to eat like you and me, but he’s still learning.” Nearly 3 years later and you would never know there was a time he couldn’t eat. He still uses his tube for liquids, but he eats all of his meals by mouth. He still only eats purees, and we continue to work toward table food, but he IS eating.

Our journey to communication has been similarly riddled with questions and uncertainty. When we learned of his hearing loss, we quickly began learning sign language. Family and friends asked “Do we need to learn sign language, too?” I don’t know. Braxton did not pick up sign language as quickly as we had hoped and it seemed almost pointless to make our family learn, too. Instead, we encouraged them to continue speaking to Braxton just as they would any other child. That constant exposure to language was still just as critical. We hoped for verbal language, but were never sure if it would come.

When we finally received the diagnosis of Rubinstein-Taybi Syndrome  (RTS), we learned from other families that many of the children are non-verbal and use sign language or a communication device to speak. There are many who have at least some words and a few who are very verbal. Where would Braxton fall on that spectrum? I don’t know.

By that time, we had already started on the path to high tech Augmentative and Alternative Communication (AAC), and the diagnosis confirmed this was the path we needed to pursue, always holding on to the hope of verbal speech. We saw little progress at first, but we saw enough to keep hope alive and to continue this path. The dream has always been (and will always be) verbal speech, but the goal is communication. Communication using whatever means necessary.

As we have worked on using Speak for Yourself, a communication app on the iPad, quite heavily in the past year, the inevitable question has become “So, will he ever speak?” I don’t know.

I don’t know if he will ever speak.

I don’t know if we will ever hear his precious little voice.

I don’t know if I will ever have the chance to tell him to stop talking. (I don’t know that I would ever want to say that after waiting so long to hear him).

I don’t know what the future holds. We simply hope for the best.

 

Here’s what I DO know…

I know that by pursuing AAC we are giving him a way to communicate with us NOW.

I know that AAC is giving him his best chance to succeed.

I know exactly when he wants hugs and kisses, because now he can tell me with his talker.

 

I know exactly which toy he wants to play with.

 

I know that he likes to read.

I know that he likes to be outside.

How do I know? Because he can ask for it himself using his communication app.

 

To see this explosion of communicative skills grow right before my very eyes is nothing short of a miracle. Today, he was roaming around the living room with a slight whine and I tried so hard to find out what was wrong. He had just eaten not long ago, he had a fresh diaper, and he was playing with his toys. I looked around to see if a toy was broken or not working as intended, but nothing. I sat down and rhetorically asked what was wrong. Braxton saw his talker and walked right over to it, turned it on and hit “sleep” repeatedly. Then he climbed on to the couch where I sat watching him, laid himself down in my lap, pulled my arm around him and closed his little eyes.

Braxton Asking to Go to Sleep

 

The dream is verbal speech, but the goal is communication. Braxton just purposefully and successfully communicated to me that he was ready to go to sleep. Because of AAC, we can check that goal off our list.

Braxton now has a way to communicate and interact with the world around him. He can tell me what he wants, he can tell me what he likes, he can tell me that he loves me, he can tell me anything he wants, because we have provided a means to do so. Speak for Yourself has given Braxton a voice. A voice he is learning to use quite well!

So, will he ever speak? I don’t know. I haven’t given up on verbal speech. I would still LOVE to hear his voice, but I LOVE that I now have a way to know what’s going on inside his beautiful mind even more. One day, maybe he will verbally talk to us, but for now, he’s communicating and I couldn’t ask for anything more than that.

 

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A love/hate ode to Rubinstein-Taybi Syndrome

This month, The Mighty is asking bloggers to write a letter to their child’s diagnosis. Here is our love/hate ode to Rubinstein-Taybi Syndrome a la 10 Things I Hate About You (I might have read too many Buzzfeed nostalgia pieces recently).

 

To my child’s rare diagnosis:

I hate that no one’s ever heard of you, and that you’ll always be around.

I hate the way that blue tag in my car hangs down.

I hate the way you make others stare.

I hate when my child hurts and I can’t read his mind.

Braxton and Dad

I hate that so much it makes me sick, it even makes me rhyme.

I hate the ways he’ll always be delayed,

I hate it when you make me cry.

I hate that you stole my child’s voice, even worse that I have to fight to get him a device.

I hate it when his basic needs aren’t met, and the fact that my answer to all developmental questions is “not yet.”

Mostly, I hate the way I don’t hate you,

Not even close…

Not even a little bit…

Not even at all.

 

You see, you’ve made me change my perspective, and

I see that there is so much life to be lived.

Braxton at the beach

That smile we’ve come to love is one of your many hallmark traits,

And that infectious laugh warms the heart and soul of all acquaintances he makes.

I appreciate the way you make me take a closer look

And celebrate the inchstones not found in any baby book.

We say that you don’t define him, but the him we know and love?

Well, without you that him he would not have become.

We’ve made peace with your existence and we know this path will be met with resistance.

Armed with faith, hope, and love this, too, we shall overcome.

They told us not to expect much, but they didn’t know his spirit.

The nevers became maybes, the maybes became soon, the soon became now and now we know he has no limit.

We have the courage to dream again without fear of the unknown,

Because now we have a community of support, and my how it has grown!

The people in our life we might not otherwise have known, had we not started on this journey feeling so alone.

Every challenge faced has made us stronger and now it’s more clear than ever, a hold you have on us no longer.

Braxton and Mom

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