Tag Archives: journey

The 2-year Hurdle

Yikes! I inadvertently went on a blogging hiatus. Sorryyy! While things have been relatively ‘boring’ medically, I have managed to keep us all VERY busy! We have been taking advantage of things slowing down medically by actually enjoying our weekends and doing things that seem almost…’normal.’ Hmmm…imagine that!?

Movie time!

Movie time!

Earlier this month, big sister, Aileen, was invited to TWO birthday parties in one weekend!  That same weekend, I also took the kids to a Sensory Friendly Showing of “Cloudy With a Chance of Meatballs 2” at our local AMC theater.  This is the 2nd movie we’ve done with AMC and both times have been really great! I love that the lights are low but not completely dark and the sound is much lower than normal.  Even with his hearing aids, Braxton did really well and did not startle during the movie.  He also did really well at the birthday parties with his sister.  It was so nice to be able to let her have fun with her friends instead of having to stay home because brother was sick or needed to be on continuous feeds.

Shortly after, I started a new job and have been juggling my old job as well until the end of the month.  AND since I don’t have enough to do, I had also been working with U.R. Our Hope preparing for our inaugural fundraiser gala.  We planned a very nice dinner and silent auction with friends and supporters of the rare and undiagnosed community.  I think it all went very well, and it was so wonderful to see such incredible support.  As part of that weekend, U.R. Our Hope also hosted a conference on Patient Advocacy and we had the amazing opportunity to film with a documentary crew for an upcoming feature on the Undiagnosed.  I was asked to speak on a parent panel at the advocacy conference and also share our diagnostic journey with the film crew for the documentary.

It was in sharing our story and looking back on this past month of the most ‘normal’ we’ve ever had, that I realized we’ve reached this “two year hurdle.”  In talking to other families who have children with special needs, I’ve found that many say the first 2 years were the hardest and that somewhere around age 2 things seemed to calm down.  I really feel like that has been the case for us.

The first year was by far the most tumultuous.  We went through so much from not knowing how long Braxton would be with us, not knowing what the future held, not knowing the exact cause of all the issues, surgeries, countless doctors appointments, so many therapy sessions, and our relationship was tested in ways that should have broken us apart.  We spent so long just going through the motions, fumbling our way through our routine and this ‘new normal’ and I don’t even see how we did it.  Somehow through that journey I found people to walk with us and build us up to find the strength and the courage to stand up for our son, for our relationship, and ultimately fight to find answers.  The only way to explain it is that God was with us every step of the way testing us to the brink of all that we could handle and every single time he was there to catch us as we were falling and bring us back to where He wanted us to be.  We came out stronger than we ever could have imagined.

Around 15 months, something clicked for Braxton and he really started to take off.  It really hasn’t been ‘smooth sailing’ since then, but we have certainly seen easier days.  We have gotten most of Braxton’s medical issues under control and have learned all that we need to really be able to care for him.  I remember when handling the G-tube was the scariest thing I could fathom and now it is so much a part of him that I forget to mention it when giving a ‘medical history.’

Along the way I also learned how to focus on the positive aspects of our life instead of the negative.  Finding life’s blessings even in the darkest of times saved me from severe depression.  There have been times when I didn’t understand why this all happened or why my son had to suffer, times where I thought I just could not handle one more thing and then bam everything seemed to crash down.  But every time, I’d look down at my little boy and see his smiling face and I was reminded of everything I have to be thankful for.  I met families who were going through so much more than us and families who were having to say goodbye to their child way too soon and I realized that despite our struggles, we were blessed to still have our little man with us.  No matter how difficult things were, he was with us and needed us. Braxton has made us better parents and better people in general.

In every interview I’ve had to do, I’m always asked “What advice would you give to parents in your situation or who are at the beginning of the journey?” I always be sure to say that I want other parents to know that they are not alone.  This journey can be so lonely and so frightening at times that we feel like no one else on this Earth could ever understand what we are going through, but I’m here to tell you that there IS someone who understands! What I’ve learned is that despite the diagnosis, the special needs journey is similar for all who go down that road.  We all share many of the same experiences and have so much to offer each other in the way of support.  Let your guard down. Let someone come in and share their story with you. You would be surprised to learn just how similar their journey is to yours. We all share so many of the same emotions, fears, hopes, dreams, and we all want the very best for our children.  If you are just starting this journey, try to reach out to someone or allow someone to reach out to you and walk BESIDE you along this path.  Having someone to walk with you or simply be there when things get hard makes all the difference in the world.

After looking back on our journey as I’ve shared it over the past month I’ve found another important piece of advice; it gets better.  The first year is definitely tough, I’m not going to lie about that.  There is so much to learn and so many specialists to see to get all the answers you need to care for your child.  There will be sickness, uncertainty, unexpected hospital stays, financial strains, and a roller coaster of emotions, but eventually it all slows down and things get better.  We are down to yearly appointments with some of our specialists and still every 6 months with a couple.  We had 3-5 appointments every month for the first year.   This month we had 1.  Your journey may be different from ours and perhaps your child is more medically fragile, but at some point you learn to manage everything and come to a place where things aren’t so hectic.

Braxton walkingI know we aren’t in the clear and there is always the chance that something will happen to set off the cycle again, but for now I’m enjoying what has been the most ‘typical’ month we’ve had in 28 months.  I’m so thankful that I’ve found a support community both virtually and in person.  That outside support has been my saving grace at times.  We are finally making it over this 2-year hurdle and Braxton continues to amaze us.  He is doing so well with walking!  His balance is getting better and his pace is getting faster.  I just know that one day soon he is going to let go of my hand and walk away.

28 months ago if someone would have said “hey it will get better, he’s going to be walking and doing just fine,” I probably would have slapped them across the face because in my grieving that was the last thing I wanted to hear.  So if you are reading this and at the beginning of the journey, (I hope that you don’t slap the person that tells you this in person) since you and I are a safe distance apart, I’m going to go ahead and say it….IT GETS BETTER! Hang in there, this journey is rough but the rewards are great.  You will find the strength and the courage to carry on.  Find a support group either virtual or face-to-face to connect with someone who has walked this path before and can walk WITH you.  And just when you think you can’t take ONE more thing on your plate, know that slowly your plate will become more manageable and you might even find some space for dessert!

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

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