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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!

RTS Facts

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Sharing Braxton’s Story

A few weeks ago, we visited KXAN here in Austin, but our interview was preempted by coverage of the French Open so we recorded the segment and it was to air on the 17th.  Well, then there was a little mishap and our segment got erased.  Instead of just moving forward, the producer called me personally to apologize and so graciously invited us to come back and try again.

So, this past Wednesday, we visited KXAN studios again, this time to do our interview live. We are so grateful to our friends at KXAN Austin News for allowing us  to share our update on Braxton’s diagnosis and to talk a little about U.R. Our Hope, the organization who has been walking with us every step of the way along this journey. Dr. Parker, the medical liaison for U.R. Our Hope and our Physical Therapist (they mixed up her title on the video) joined us in our interview.  

Here is the link to the full story on KXAN: Parents triumph in toddler’s diagnosis

And here is the video!

 

 

Being able to share our story has been so incredible because of the awareness that has been raised.  There are so many people who don’t know that a child CAN in fact go without an actual diagnosis for so many years, that a child may NEED a feeding tube to survive and thrive, and they may have never even heard of Rubinstein-Taybi Syndrome. Heck, there are some physicians who have never heard of it! So, with every person that reads our blog, visits our Facebook page, sees our news story, there is something so much more happening. Every view is one more person who can say “Hey, I’ve heard of that” or “Oh, I saw this child on the news with a similar situation.” when they or someone they know finds themselves in a situation like this.  We had no idea until it was all thrust upon us, and now we want to be able to share our experience so that we may help others.

This journey can be incredibly rewarding, but it is without a doubt difficult at times.  We want to make sure others know that they aren’t alone. You don’t HAVE to walk this path by yourself. Find a support group. Reach out to a parent who’s “been there.” Trust me, it makes all the difference in the world when someone can reach back and say, “Hey, I’ve been there too and I know exactly how you feel.”

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A New Journey Begins

After 21 months of searching, hoping, and waiting for a diagnosis, we finally have an answer! [And a whole lot of questions.] Today has been quite the rollercoaster of emotions for us all, and I’m still learning and processing all of the information, but here’s what I know now.

The official diagnosis is: Rubinstein-Taybi Syndrome. [I’ll get to the explanation in a bit.]

If you do any research, you’ll find that making this diagnosis is usually pretty straightforward, but in Braxton’s case, there were also some other factors that made finding this diagnosis somewhat difficult.

Today, we learned that Braxton has a mutation/variance in 8 different genes that we know the functions of AND contribute to his characteristics.  There are at least 20,000 genes in the human body, and current technology only really knows what about 4,000 – 5,000 of those genes do.  It’s possible Braxton may have other variances in genes that either do not further explain his characteristics or that we have no idea what that variance means.  We are now waiting for the expanded report that will tell us any information of the other genes that were tested, but for now, it may not mean much of anything until the science catches up to us.

In addition to Rubinstein-Taybi Syndrome (RTS), the test found a mutation in a gene that causes Cornelia de Lange Syndrome (CdLS). However, it turns out that I (mom) also have the same mutation in my genes, and since I’ve not had any issues related to the syndrome, it’s unlikely that Braxton is actually affected by it.   [This is one area I have a question on. Doesn’t quite make sense to me, so I’ll report back later on what that really means.] The crazy thing about this is that I’ve had multiple people contact me and ask me specifically about these two syndromes and whether or not Braxton had been tested for them.  Our geneticist mentioned CdLS at our VERY FIRST VISIT, but discounted it because Braxton wasn’t “as hairy as those individuals.” When I mentioned RTS, she discounted it because his thumbs weren’t really as broad, his nose was different, and his hearing loss was too profound to be RTS. As he got older, and the more I read, the more I saw him grow in to the diagnosis.  I truly felt in my heart it HAD to be one of these two, and lo and behold, it was. So, THANK YOU to the individuals who reached out to me and brought them both to my attention.  And thankfully, because I have researched both of them, I wasn’t completely blindsided today. I had at least heard of RTS and read up on some of the symptoms and expectations, but hadn’t committed them to memory.  [I’m working on that now, though] Braxton also tested positive for another mutation that apparently mom has that would point to Genitopatellar Syndrome, but again since I don’t have that syndrome or problems related to it, it’s not Braxton’s diagnosis.

Braxton also tested positive for a variance in 3 different genes related to hearing loss and deafness. Aha! That would be why Braxton’s hearing loss is more profound than other kids who have RTS.  For one of those genes, mom and dad both tested as carriers, which means that if we had another child, there may be some issues with hearing loss or deafness.

There were a couple other variances that were noted, but didn’t really help us any with his “clinical picture.” We also found out that Braxton has a few enzyme deficiencies which make it difficult for his body to metabolize certain medications, luckily he is not on any of them (he was on one, but not any longer), but it’s important for us to remember as he gets older.

That’s the summary on the test results. Now, back to the official diagnosis.

Our doctor gave me a folder full of articles about Rubinstein-Taybi syndrome that I’ve read and highlighted and made notes all over this afternoon. For the most part, Braxton matches a majority of the symptoms. So, what the heck is it? First of all, in almost all cases, RTS is a RANDOM mutation, meaning that most cases happen without anyone in the family ever having it before. It also means that neither mom nor dad were a carrier, so the chances of having another child with RTS are less than 1%. If Braxton were to have kids, his chances of passing it on are about 50%, unfortunately, most males with RTS do not have children.  RTS is pretty uncommon and occurs in 1 in 100,00 to 1 in 300,000 people.

RTS is characterized by several very distinct features. They include:

  • Broad thumb and great toe
  • Downward slanting eyes
  • Beaked nose (tip of the nose slants down)
  • Heavy/Highly arched eyebrows
  • High arched palate
  • Long Eyelashes
  • Small Head
  • Small jaw
  • Prominent Forehead
  • Broad nasal bridge

One of the most distinct features, is the smile.  “The grimacing or unusual smile with nearly complete closing of the eyes is almost universal.” [From an article by Raoul C.M. Hennekam on RTS]

Other signs and symptoms: (these include some less common signs, but they are ones Braxton has)

  • Eye Anomalies (tear duct obstruction, coloboma)
  • Variety of Congenital Heart Defects
  • Joint hypermobility
  • Constipation
  • Feeding difficulties
  • Sleep apnea
  • Vertebral anomalies
  • Kidney abnormalities
  • Agenesis or hypoplasia of the corpus callosum
  • Moderate Intellectual Disability
  • Delayed development of motor and cognitive skill
  • Short stature
  • Benign tumors

Many kids with RTS learn to crawl around 19 months, Stand at 29 months, and walk at 35 months.  These are rough estimates, but on average most report their kid learning to walk at about 2 1/2 years old…Braxton is almost there! He was cruising quite a bit at the dr today, so I don’t think walking is far off.

First words are usually spoken at about 2 years old and 2-3 word sentences take as long as 4 years and sometimes up to 7 years.  Some children remain relatively non-verbal.  Many of the articles I read reinforced the importance of Speech Therapy and many reported children learning sign language and having the ability to sign and speak.  Some may also use alternative technologies (like an iPad) to communicate.  I am SO extremely thankful we have a fantastic Speech Therapist on board with experience in AAC to help us on this journey.  It will be a little while longer, but Braxton should be able speak! Yay!

Another reported potty training being reached at about 5 years old.

I guess the short story is, Braxton is going to be able to walk and talk, many of the issues he may face we are already monitoring, speech therapy will be key in helping him communicate, physical and occupational therapy will continue to be necessary to help make progress, most individuals have their feeding issues resolve so he may not need his feeding tube forever, Braxton will have an intellectual disability and require special education courses when (not if) he goes to school, and he will reach adulthood and his life expectancy isn’t any “worse” than normal for any “typical” individual.

It’s a lot of information, and a lot of it seems far worse than it probably really is.  Only time will tell what our experience will really be like.  I am so thankful to have a diagnosis now. Thankful that there IS research available for it, a few support groups, and that we are already ahead of the game with many of the services he needs. Going over the “things to do after a diagnosis” and we’ve checked off most of them.  There are a couple things we need to do now that we have a diagnosis (like a sleep study to check for sleep apnea), but not anything totally life altering.

Ohhh, I left out something.  Almost all of the articles I read, noted that parents said their children were easy-going, very happy, social, and lovable babies. One said, “they have an absorbing smile that has been described in reports as ‘grimacing’, but in reality their smile radiates the love and acceptance that these children have for everyone around them.”  This is no news to us. 🙂

Please don’t feel bad, or sorry, or take pity on us.  Yes, some aspects of the syndrome are difficult to take in, but at the end of the day, Braxton is our son FIRST, a child with RTS second.  While many of the characteristics describe Braxton’s experiences thus far, he is sooo much more than a diagnosis.  Like I said before, he is an extremely happy little boy who exudes joy and brings light into all of the lives he touches.  That’s never going to stop. Today, a new journey begins. A journey full of hope and endless possibilities.

A smile full of hope and love <3

A smile full of hope and love ❤

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