Tag Archives: emotions

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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Filed under Family, Kids and Family, Life, Special Needs Child

Invaluable Support

The past 19 months have been quite the journey.  Braxton is not the only who has come such a long way from that first day in the hospital.  We’ve had many physical and emotional ups and downs since day one.  Although I don’t like to discuss those initial feelings often, I think it’s important now so you can understand this post.

SAMSUNG

In those first few hours/days/weeks of Braxton’s life we were so scared and full of uncertainty, and we were also in a very “us” centered world.  It did not matter to us about the countless others who had been or were in our shoes at that time.  Every time someone said “It could be worse” I wanted to punch them in the face…Joseph usually quipped back “Yea, well it could be a lot better too.” Most people didn’t know how to respond so they just stayed silent.  (I suppose that was as effective as a punch to the face.) I’d also cringe as well meaning family, friends, and strangers who wanted us to know we weren’t alone offered their unsolicited advice or story.  In those early days we were inconsolable, no amount of advice, happy-ending story, or tears was enough.  I just wanted my son to be better. I wanted to take him home. He belonged at home. I had another child who also needed me. Why is this happening? What did I do wrong? Everyone grieves differently, and the fact that things weren’t the way we had planned or imagined them to be was certainly reason enough to grieve.  We put on a happy face, pulled ourselves together and visited Braxton daily.  For a while I think I even fooled myself into thinking “I’ve got this. No big deal, I’m good, I don’t need anyone or anything right now.” Once we were able to take Braxton home, caring for him and getting him all the treatment he needed took over my life.  My needs came well below his and often were forgotten and not met anyway, not for lack of trying, but because he needed me around the clock and there was no time (or I didn’t give myself the time) for me.  It wasn’t until Braxton was essentially “stable” that I finally began to settle down and realize that I needed to take care of myself too.  During this time, even most of my family was left out of the loop.  We didn’t tell anyone very much.  Anything that was told was on a very “need-to-know” basis.  I was certainly not as forthcoming with details as I am now in my facebook posts or blog updates.  In fact, it wasn’t until I started this blog that anyone really knew the whole story.  My own family was shocked to learn many of the details…they had no idea what I was holding on to.

Fast forward to the present, and I’ve let go of many of those emotions and I’ve come to really value the stories of others who are on a similar journey. In fact, I now seek them out myself! *Gasp* It took a very long time to finally come to terms with what was going on and to begin to adjust to what was now our life.  Once we finally settled in to a routine and we realized that Braxton was doing better than we all initially thought, the “threat” was removed and I wasn’t as “on edge” and I was able to listen to others.  I slowly began to realize that we weren’t alone and that so many people truly wanted to help us. They wanted to relate, they wanted to understand….I wanted them, no, NEEDED them to understand.  That is about the time I finally decided that I wanted to start this blog as a cathartic release for myself, but to put our story out for others to read whenever they were ready to seek out the information.  Not too long after I published the site, we were invited to join U.R. Our Hope (an organization I’ve grown very fond of that helps those with rare and undiagnosed syndromes) Our PT supervisor is the co-founder and she is the one who invited us to begin attending the monthly meetings they had.  She introduced me to families whose children had similar diagnosis as Braxton and naturally, I found this to be something I didn’t realize I needed.  That once a month lunch/dinner with people who really “get it” was extremely relieving and helpful.  It was the first time I truly felt that we weren’t alone.  I love all of my family and friends, and although well intentioned, many will never truly understand what we go through daily because they’ve not lived it.  Being able to meet families who are living it was inspiring and hearing their stories and what their kids have overcome really helped me further open up about our journey.

In addition to this tangible support, I’ve sought out many virtual support sites, facebook pages, blogs, and articles.  I’ve joined so many virtual groups and met some really amazing families from all over and I cannot speak enough about how much this has helped.  NOW, the stories from others who have it worse or have been where we are and how they got through it is so meaningful to me.  NOW, I want to hear all of these things, I want to read as much as I can…I want to know we’re not alone.  The stories are all so inspiring to me and if someone feels the same about us, I’m humbled and glad we could be that for you.  One of the online groups I’ve really taken to is “Mommies of Miracles” which is probably the largest virtual support group around for mothers of children with special needs.  Their facebook page is extremely active and you can literally have questions answered within minutes whereas answers from doctors can take hours or days. (Of course, for most things you should really consult a doctor, but MoMs helps to give you ideas or questions to ask the doctor right away) MoMs also has regional groups you can join and of course I’ve joined the Texas Mommies of Miracles and have been able to “meet” and “talk” to mothers from all over the state.  We’re all on the same journey, trying to do what is best for our kids.

I often speak about Braxton’s happy demeanor and how easygoing he is, and to some it seems out of character for a child who has “gone through so much” to be so happy, but one thing I’ve learned from MoMs is that ALL of these children are happy.  Sure, some may have more mood swings than others or have a crying hour..err hours? but those moments of just pure happiness from our children is a true miracle.  They are just like any other child who needs love and attention.  They have REAL feelings just like any other child.  They are all so easy to love and bring light in to all of the lives that they touch.  Recently, the admins for Texas MoMs put together a slideshow of all the Texas Miracles and as I watched it, I couldn’t help but smile from ear-to-ear.  The pure joy on these childrens faces is so inspiring.  Despite their struggles, despite their challenges, they all know love and happiness and it is now displayed for all the world to see. I’d like to share the slideshow with you.  I hope that these smiles inspire you to fight on despite whatever struggle it is that you are facing.  No matter how big or small, remember these smiles.  If these kids can smile through some of the toughest struggles, you too can get through anything that you are facing.

 

I am ever so thankful for all of the invaluable support we’ve received from day 1.  If you happened to be around at day 1, we probably weren’t very nice, and we’re sorry.  For anyone who has offered a story, a congrats, a share, a ‘like’, words of encouragement, prayers, well wishes, a hug, a personal message…we thank you.

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