Tag Archives: exome sequencing

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 ❤

27 Comments

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

The Difference a Day Makes

Gah, I am a wreck this week! Tomorrow, we finally see Genetics again to go over the results from our Exome Sequencing that we had sent off back in December, and I’m all over the map with my emotions about it.  Tack on following the heartbreaking story of Gavin Leong, news coverage on the explosions in Boston, trying to hire new help in my office, all while Joseph is gone at work and I don’t even know how I am able to think clearly!

Slowly, things are starting to work themselves out.  Joseph has a better idea of his work schedule and should be home soon for his regular time off so I can get a schedule going again (he’ll be here for the appt tomorrow, but then it’s straight back to work).  I finally hired a new person who I think is going to be a great fit so I don’t have to go through the hiring process yet again, and I just stopped watching the news and clicking links because my heart just can’t take anymore.

With a few weights lifted, my focus is now on tomorrow.  Tomorrow, may finally bring us long awaited answers, yet leave us with a million questions I’m sure. Spent this week trying to make sure our medical binder is in order and writing down any question I can think of should we get a diagnosis, and questions of the next steps should we NOT get a diagnosis. How great it would be if we were part of the 20% who receive answers from this test, but 80% is a big number and far more likely. I am hopeful, but preparing for both scenarios.

Tomorrow, we may find out more than we know what to do with.  We learn a diagnosis, whether this was a random gene mutation which would tell us the probability of another child (should we decide to have one) having the same syndrome, and a few other things that I can’t readily recall at the moment.  Needless to say, it’s a huge day and a very important appointment.

Tomorrow, things could be completely different. We could have a reason behind all of the issues little man has had to face so far and an idea of what the future could bring.  Do kids with this syndrome talk? How is their cognitive ability? Likelihood of childhood cancer? Other health issues we need to watch for? Soo many questions.  I know that only time will tell and there is really no way to predict the future, but some preparation would be helpful.  Knowing now what to prepare for and how to help my son and how to help my daughter understand, all things I may actually have some ideas about tomorrow. Hey, we might even have to change the name of our blog?! Living with ___ syndrome??? (Hopefully I’ll come up with something better than that, but my creativity is a little bogged down at the moment)

You know what won’t happen tomorrow? He won’t magically be cured. He won’t take off running and talking. (That’s coming, but not tomorrow.) Nothing about his treatment is going to change.  He is still going to need all of the therapies that we thankfully already have in place.    All of the doctors we already have on board will remain the same.  We may even add a doctor, and the diagnosis may even help the other doctors prepare their treatments better, but they will remain the same.  We are so fortunate to already have a fantastic team of doctors and therapists.

So, why does a diagnosis even matter? On paper, it matters. For insurance, it matters.  For services, it matters.  “Unspecified genetic syndrome” only gets you so far, and to lose any of the doctors, therapies, and services we have would be detrimental.  Braxton has come so far and is doing so well and an official diagnosis would only ensure that he continues to get the treatment he needs.  Some guidelines and expectations would be nice to have as well.  Another big thing would be more support groups.  Being able to find a group of other parents going through the exact same thing.  Being able to see how their children are doing. Having a “seasoned vet” help me when I have questions.  Has anyone reached adulthood with this syndrome? Those kinds of things would be great to know to inspire more hope for us, to help me through the bad days. Knowing that despite everything, it’s all going to be okay.

Most importantly, tomorrow, I’m not going to love my son any less. He isn’t going to be some completely different person. He is going to continue to make progress and exceed expectations.  He is going to be the same joyful, lovable little boy that brings light into all of the lives he touches.

Braxton and big sis <3

Braxton and big sis ❤

Tomorrow, everything could be completely different, yet exactly the same.

3 Comments

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

Every Day, We Choose Joy

When life deals you a hand you didn’t expect, you can sit and be mad about all the things you think you’ve missed out on, or you can adapt and learn to embrace the life in front of you.  Sometimes, you go back and forth between those choices as you go through stages of grief and mourning the life that could have been, before you learn to love the life you have and make a choice to be happy.

We are often asked “how we do it?” or told how impressive our positive outlook is or that we’re special people so God gave us a special child.  Truth is, most days I don’t know what I’m doing or how I’m even functioning. Some days I’m not so positive, I sit and think about all the what-ifs and cry and worry.  And we aren’t special. We’re normal people, just like you.  It doesn’t take a special kind of person to parent a child with special needs, over time you BECOME who you NEED to be for the sake of your child.  We all have it in us to rise to the occasion, but it’s up to you to CHOOSE to do so.  The path to making that choice can be tumultuous and you go through every emotion possible, but eventually you CAN find your way to happiness.  I can’t promise every day is going to be happy. There will always be hard days.  But I CAN promise that the good will always outweigh the bad.

Perhaps that’s a promise to myself, since we have a very important appointment coming up next week, and it’s been weighing heavily on my heart.  It’s possibly the culmination of this journey and the beginning of the next, or possibly not.  In December, we had blood drawn and sent off for Exome Sequencing.  After many genetics tests, I was certain this was the one we needed, the one that was going to answer all of our questions.  When we arrived and the genetics counselor told me that in reality, this test has only provided a diagnosis for 20% of the patients who have had it done.  This was much lower than I thought and my hope was once again deflated.  Then, a few weeks later, I got a call from the genetics office telling me results for our test would be in by April 13th and that the doctor wanted us to come in for our results.  I told the lady we had an appointment already scheduled for the end of May and asked if we could just keep that one.  She put me on hold and came back and said “No, the doctor would like you here when your results come in.” I was baffled. Then, I was excited! They found something! No, there’s no way, it’s too soon, it’s only been a few weeks.  I spoke with one of our therapists, and she too, said there must be a diagnosis or at least a lead.  Again, I was full of hope and also impatience. But I wanted to know now, if they knew something why couldn’t they tell me? Perhaps they knew nothing at all? But surely….SURELY they would not call and move my appointment UP to tell me no news…would they?

Hard to believe that conversation took place 3 months ago.  I didn’t know what I was going to do to keep from going crazy. All day long, I thought about that conversation.  Every possible scenario played through my mind.  What if they found something? What if what they found is so rare it doesn’t give us any information at all? What if the doctor was just going to be out of the office on our original appointment so they moved us up? How was I going to keep from wondering every single day what that call meant. That night, I cried.  I broke down. It was all too much. So overwhelming. And just like I had before when we came out of NICU, I made a choice.  I chose joy.  The what-if game brings nothing but heartache.  My life is full of enough uncertainty daily, I didn’t need to consciously entertain it any more.

21 months without a diagnosis. 21 months of worry. 21 months of uncertainty, fear of the unknown, wondering if my child would wake up the next day, wondering if my child would crawl, wondering if he will walk, wondering if he will speak.  Does a diagnosis change any of that? No, probably not. Best case scenario is that he’s diagnosed with something that there is already research for so we have some kind of prognosis to go by.  Sure, that’s not entirely accurate, but it would at least give us some idea about what life might be like.  Something to plan for. Something to teach my daughter about so she’s not scared and so she understands what’s going on with her brother.  Something to say this is a completely random gene mutation and it wasn’t caused by anything YOU did. (Because, yes, there are some days I do blame myself. I must have done something for this to happen. In all likelihood I did nothing, but it’s a feeling that is hard to shake)  Something that says if I decide to have children again I don’t have to worry about this. Or possibly that it will happen again…but at least next time I’d be prepared. I’d have a much better idea of what to do.  Worst case scenario…no diagnosis.  A “sorry, we still don’t know what’s happening with your child, but hey come back in 6 months and we’ll see if he’s grown into his diagnosis.”  Where do we go from there? What other tests are there? I’m sure there’s more, but what if there isn’t.  What if we’re to be 20 years with no diagnosis waiting for the science to catch up and give us the answers we want.  No, I’m not being crazy. There are families 20 years in to the journey still trying to find a diagnosis for their child.

These are the thoughts I suppress, because if this is all I focused on, I’d be a wreck.  I’d miss out on all of the wonderful and amazing things Braxton is doing.  Focusing too long on the unknown and the negative causes you to lose focus on the positive aspects of life.  Braxton is HERE. Braxton is ALIVE. Braxton is crawling. Braxton is making progress. Braxton is laughing. He is full of life. And he is full of so much joy that it just pours out of him and into the lives of others.  These are the things I choose to focus on.  I’m not going to sit here and pretend that I’ve got it all figured out, because I don’t.  I’m not a better parent than you.  I’m not a stronger person than you.  If you were in my shoes, you’d do exactly what I’m doing. You, too, would rise to the occasion.  You’d be surprised to learn the strength you truly possess.  However, I don’t wish this on you. It’s quite the paradox. I love the life I live, but I wouldn’t wish it on anyone.  It’s hard and some days it sucks. The rewards are great, but the hours are long.  But, it’s all about perspective.  Not just the journey with a child with special needs.  Life in general. Life is about perspective. It’s about what YOU choose to make it about.  You can choose to focus on all the problems you have, or you can choose to see the brighter side.  You can choose pity, misery, and uncertainty, or you can choose to have hope, love and joy.  For us, it’s simple…each and every single day, we choose joy.  We choose to live day by day cherishing each day and all the good in every day.  Yes, sometimes, we too complain about every day woes, but every day at the end of the day as we watch our children laugh and play we are reminded that this life, no matter how hard it gets (or what next week’s results might bring us), is full of so much joy and happiness.

Choose Joy Everyday

This post was also published on The Mighty.

8 Comments

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

Jumping for Joy!

I’m happy to announce some EXTREMELY exciting news!!!!

This morning I got a call from our geneticist’s office regarding our insurance authorization for the Exome Sequencing….

Insurance APPROVED our request!! Our insurance is going to cover the cost of Exome Sequencing and our out-of-pocket expense is ZERO!!

Fortunately, (but unfortunately ? ) our deductible has been met and our out-of-pocket maximum has also been reached so we won’t have anything extra to pay to have this much needed test.   What an amazing blessing and early Christmas present for us! I am beyond words excited. If I could do backflips, I would have been doing them all day!

LoveI was sitting at my desk at work frustrated with our GI doctor for not calling me back and at my wits end trying to figure out what else I can do for Brax’s vomiting when I got the call…Immediately I felt the tears well up and start to fall down my face.  Tears of JOY! Thank you, thank you, thank you ALL so much for your prayers and well wishes! God has been so good to us and continues to bless us along this journey.  We go next week to have blood drawn and sent off and then it will take about 5-6 months to get the results. Hopefully, this finally gives us a diagnosis and the answers that we need.  Just another step on the journey, but it’s such an important one and I’m sooo thankful we have the opportunity…

4 Comments

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