Tag Archives: whole exome sequencing

One Year After the Diagnosis

It’s hard to believe that it has been exactly one year since we finally learned Braxton’s diagnosis.

I went back and read my entries leading up to the day we received our results and even a few weeks after, and I recognize that there has been so much personal growth.  I am in a very different place now and continue to grow with every passing day.

Before we received our diagnosis, life was full of questions, uncertainty, fear, confusion, frustration, and a host of many other unpleasant feelings.  It was so difficult to have to go to the doctor and tell them that I had no idea what was going on with my son.  Braxton’s care was entirely symptomatic.  As new things came up, we treated that specific issue, but had no idea how it fit in to “the big picture.”  It was as if we were grasping at straws just hoping that something would work.

Outwardly, we presented our best face and tried to remain positive, but the battle within was constant.  There were so many sleepless nights and nights full of tears simply because I felt as though I’d failed as a parent and felt that the medical community had failed us.  I was always grateful for our team of doctors, but always, always felt like more could have been done, like more should have been done.  But, alas, “coulda, shoulda, woulda” changes nothing.

Life after the diagnosis has been a dramatic difference.  Sitting in the doctor’s office one year ago, I remember my uneasy breathing and grasping the chair beneath me until my knuckles were white, until the doctor walked in.  When she finally delivered the news, I remember exhaling, a weight being lifted, and even smiling because I had already known what the doctor just told me.  I will always be grateful to the few people who reached out to us through our blog to suggest Rubinstein-Taybi Syndrome.  Doing my research then, helped me accept the diagnosis in the office that day.  It was familiar, it was not life-threatening, I was at peace.  I was relieved.

BraxtonThe first few weeks of researching and trying to explain things to our family was very difficult.  Our family members learned and dealt with it in their own way.  Some are still coping.  Some still believe that Braxton will magically be “cured” of RTS, although there is nothing to cure.  You can’t change genetics.  Braxton is who Braxton is going to be for the rest of his life.  He is loving. He is full of joy. He is full of spirit. He is full of drive and determination. He is a fighter. He is just like any other 2-yr old daredevil little boy. He may not move as fast, but he is well on his way.  Our family has been supportive every step of the way.  We have all grown and we have all come together.

Every day is a little bit easier.  Life is still full of therapy, but the doctor’s visits are less than before the diagnosis.  Most of the doctors are now seeing Braxton on an annual basis, with the exception of his Cardiologist who still monitors his heart closely.  Now that we have a diagnosis, our care is more focused.  I know some of the issues we will face and how other families have dealt with them, which has helped tremendously.  I can make informed suggestions to our doctors based on real experiences.

Our therapy goals are now geared toward the things we know will present difficulty.  We know Braxton will walk, so we are really pushing that goal and even his daycare is doing everything they can to get Braxton there.  We purchased a medical stroller instead of a wheelchair because we know Braxton will walk soon.   We know that Speech will be our greatest difficulty so we are trying many different methods of communication.  Braxton is still not picking up any sign language, but he has taken to the iPad and successfully demonstrated purposeful choice-making.  We’re now moving forward with a grant to purchase an iPad and augmentative communication program.  We’re still using sign language and picture cards, but we know this is what he is going to need long term, so we are able to provide medical documentation for a grant.  Before the diagnosis it may not have been so easy.

There is a whole other world of possibilities that has opened up for us now that we have some insight in to exactly what is going on with Braxton.  I can make decisions with more confidence and have more options available.  I felt stuck before the diagnosis and just accepted most of what the doctors recommended, because I didn’t want to look back in hindsight and wish I would have done more.

We have a new support group that has been fantastic.  In the first few weeks after the diagnosis, I asked A LOT of questions on the Facebook group and Listserv. Thankfully, so many shared their experiences and put my worries at ease.  A year later, I can now welcome new parents and share our own experiences. I’ve had parents reach out and tell me that my blog helped them come to terms with the diagnosis and to a place of acceptance. We have come full-circle.  There is a sense of family among our diagnosis and at any given time I can reach out for support and answers.  That is, perhaps, one of the most important differences in life before and after the diagnosis.  Before, I could reach out to families who had similar experiences but due to their specific diagnosis, it was handled differently than Braxton would have been.  I was thankful for the support and guidance, but it never really quite fit exactly.  After diagnosis, I see/hear stories and think “Oh my, that is EXACTLY how it happened with Braxton.  Here is what worked for us…” We finally have a “medical home,” a group of people who truly understand, people who have “been there, done that” who can offer advice and words of wisdom. It has truly made such a difference.

Braxton has grown tremendously and is making wonderful progress.  His receptive language is getting better every day and he is finally showing real signs of understanding.  His gross motor skills are taking off as well.  He is cruising like a champ, “knee-walking” all over the place and taking independent steps during therapy.  His is eating almost completely on his own now.  He will eat about 30 ounces a day by mouth and he gets one bottle via g-tube just to supplement calories.  He is even starting to drink now! With most of my worries gone, I can focus on all of the amazing things Braxton is doing and just be in the moment.  And the moments are incredible. Positivity is no longer something we pretend, it just comes naturally.  We are still going to have hard days ahead, but I am better equipped to face them and I know I don’t have to face them alone.

 

 

This anniversary comes just before “Undiagnosed Children’s Day” and I am reminded that there are still so many searching for what we have found.  The average journey to rare diagnosis takes about 7 years.  Yes, SEVEN years.  Our diagnostic journey was significantly shorter than the average but still took quite a toll on us. I can only imagine the families who are in agony and still searching.  To those families, I say please don’t ever give up hope.  Soon the answers you seek will find you.

To everyone else, I say please keep these families in your thoughts and prayers.  Continue to support the organizations who serve the Undiagnosed and Rare community because it is those organizations that helped lift us through the hard times.  I don’t know where we would be were it not for U.R. Our Hope and our Physical Therapist who helped guide our journey.  I’m grateful to them for fighting the fight.  And I’m so proud of the documentary team who is filming “Undiagnosed: Medical Refugees.” I hope this film comes to fruition and the world learns what we have had to face and why answers are so important.  More can be done and more needs to be done for these families.

 

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Simply click to vote! It’s THAT easy. Then feel free to browse some other really great mommy blogs. Thank you!

 

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The Silver Lining

Silly Face

Handsome Man 🙂

How fitting that I posted about the rain of sickness upon us, that today amongst the clouds we found our silver lining.  Today, we saw our geneticist and she had some pretty exciting news for us.  We had previously discussed Whole Exome Sequencing with her earlier this year, but since it was still fairly new, most insurances weren’t yet picking up the cost for it. At a mere $8,000 I can’t believe we didn’t just do it anyway! -__- *sarcasm* Who has an extra $8,000 lying around for a test like that?! Anything we had in savings has certainly been used in 17 months of caring for Braxton and his countless doctors appointments.  At this point, she also explained that Blue Cross Blue Shield basically considers genetic testing as “experimental,” I don’t see how any thing that could help determine need of future healthcare costs could be considered “experimental,” but that’s beside the point, when she previously discussed it with us, it was out of the question.

I should back up a moment and explain a little about just why this test is so important.  This is in my own way of understanding the test and in no way totally scientific.  Whole Exome Sequencing is a way of testing specific regions of DNA that we know the functions of.  There are some 22,000 genes in our body and at this time researchers only really know what about 5,000 of them do and/or specifically control.  Exome sequencing breaks those 5,000 genes down into regions and can tell what region controls or affects different parts of the body.  For example, researchers know the specific gene sequence that signals if there is a defect on the 21st chromosome in our body which signifies Down Syndrome.  Because Down Syndrome is now so well known and studied exome sequencing is not necessary to detect it, but for other syndromes that are rare or still unknown (like DS was previously) Exome Sequencing is excellent in telling doctors and researchers exactly what part of a person’s DNA is different.  This could then tell doctors exactly what gene has a defect and what that particular gene controls.  This in turn could help prepare parent expectations as for prognosis in their child’s life.  If there is a gene defect that controls motor movement a parent would then know motor skills like crawling and walking need extra help and attention.  It is also possible to have a hybrid of syndromes.  A child could have signs and symptoms of two different syndromes and not fit into either of them perfectly, exome sequencing could tell doctors exactly what two syndromes are at work and help formulate a better plan for the future.  This is WAY oversimplified, but it’s what makes sense to me and hopefully to you. You can check out this link for more – Exome Sequencing (Wiki) here is some info from one of the companies who performs the test – Ambry Genetics Exome Sequencing  From my understanding, there is also Whole Genome Sequencing which actually tests all 22,000 genes as opposed to only the 5,000 that we know. Talk about information overload! Braxton has already had all other tests that are lower cost that could potentially give us answers, they were all returned as normal.  The two isolated genes our dr had tested also came back normal.  Continuing to grasp at straws and test one gene at a time is time consuming and incredibly expensive. Far more expensive than doing this more all inclusive test now and getting it over with.

I understand, that although this would tell us what gene has a mutation on it, it may still not answer our questions.  If it turns out to be a rare disorder we may have no numbers to go off of, no prognosis, no expectations, but at least we’d have a cause and a name. Technology is ever evolving and in time we’d know more, so to know NOW the root of the problem is extremely beneficial.  The test would also help us to determine if it is some random genetic mutation or if all future children could have this issue.  Stop right there grandmas! There are NO new babies on the way now or in the near future!!! hahaha But, it’s something we need to know so that if way, way, way, way, in the future we decide to have more children we’ll know their chances of having the same syndrome.  The results also wouldn’t necessarily change our plan of action with regard to therapy. It’s obvious that whatever syndrome it is, it is causing developmental delay in all areas so all the therapies we have in place are still necessary.  It could however offer answers as to WHY the delay is there and could potentially help our therapists better address the issue.  Bottom line, this test is what Braxton NEEDS right now.  If Braxton is accepted in to the NIH program we told you about earlier, they would do either the genome or exome test as part of their research.  NIH is still reviewing Braxton’s records and it will be quite some time before we find out if he is accepted for that program.  Buuut…..

Happiness

Happy baby..yay for good news 🙂

Back to the good news. 🙂 We may NOT have to wait for NIH! Our geneticist told us today that she felt we’d exhausted enough testing and she recommended we move forward with the Whole Exome Sequencing. She said some insurances are picking up the cost of exome sequencing as long as prior authorization is obtained first! Although they told us previously about BCBS and genetic testing, (surely we can’t be the only ones with BCBS) they assured us that no one they have submitted has been flat out denied.  The biggest problem has been out-of-pocket expenses on the family.  Thankfully, we are near the end of the year and our deductible has been met, as well as our out-of-pocket maximum, so with a little luck, if Blue Cross approves our pre-auth within the next 2 weeks, it is possible we will have our blood drawn and sent off before the end of the year! Hopefully, if there is still an out-of-pocket cost it won’t be too much so that we can have this test done and finally get the answers we need.  Such an amazing silver-lining.  Even amidst the storm God reminds us that He’s here….

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