Tag Archives: syndrome without a name

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.

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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.

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Hey you, yes YOU, you’re awesome!

Big sister showing love for her brother :)

Big sister showing love for her brother 🙂

Rare Disease Day is winding down, but one thing that isn’t, is our gratitude.  Just a quick post to thank each and every one of you who visited the site, read our posts, clicked around to other posts, shared the blog on facebook, changed your facebook profile/cover picture…the support is truly overwhelming.  Our friends and family never cease to amaze me. I tried to ‘like’ or comment on every single share or picture change, but I honestly lost track, so if I missed you, I’m sorry, but I do thank you from the bottom of my heart! Joseph and I BOTH thank you!

I really hope this doesn’t start to sound old or fake, but we really are so very grateful to you all for sharing our story.  We think Braxton is amazing, but we’re his parents and we’re supposed to, so to know YOU think he’s amazing too, well that just warms our heart.

Continue spreading the word, because Braxton has so much to teach the world.  Destined for greatness.

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Rare Disease Day

Rare Disease Day 2013Today is the 6th Annual Rare Disease Day.  There are 6,000 – 8,000 rare diseases currently identified.  A rare disease in the US is classified as a disease that affects fewer than 200,000 people.  In Europe, it is classified as a disease that affects 1 in 2,000 people.  For many, having a name to the syndrome doesn’t necessarily mean it’s a walk in the park.  Since so few people are affected there is often not enough information available to provide a prognosis for many patients.

Then, you have kids like Braxton.  So rare, that they do not have a diagnosis.  Whatever it is that is affecting Braxton, does not yet have a name.  There are no real statistics available for the number of children who are undiagnosed, but I’m certain Braxton is not alone.  Often times a disease is so rare a child is classified as “undiagnosed” because the specialists they are seeing are not familiar with the disease.  Or the child doesn’t grow in to the diagnosis until later in life because key identifiers are not present at birth.   There are also identifiers that could indicate so many diseases that they really aren’t useful in diagnosis.  It is also possible to have symptoms from two different syndromes that make a diagnosis even more difficult! Genetics is a very tangled web of possibilities! Even the Exome Sequencing test we did really only has a diagnostic rate of about 20%  Our bodies have over 20,000 genes and currently, researchers only know what about 5,000 of them do for us.  Thankfully, technology is constantly advancing, so it’s possible to find a genetic mutation in a gene whose function may not be learned until later on in a child’s life.

I’m so amazed by the medical community and how quickly things develop and change.  Even in Braxton’s 20 months, things have changed.  Exome sequencing was very limited at first, and it is now being offered by more labs and even being covered by insurance.  That’s huge!! Advancements like this are made possible by raising awareness among the general public who can in turn help parents to advocate for legislation and services to help those with rare and undiagnosed diseases.

RareDiseaseDayCover

That’s what this is all about.  That is why I write.  I keep this blog to continue to promote awareness for the many kids like Braxton.  You never expect something like this to happen, and nothing prepares you for it.  The baby books don’t ever talk about the possibility of having a genetic syndrome.  Reading about it now from us and others who live daily with this diagnosis, might prepare you one day when you find yourself scared that your child is being sent to NICU.  Hopefully, a medical professional finds this blog and learns more about Braxton and eventually contacts us with a test that can possibly diagnose Braxton.  Maybe a medical student finds it and when she begins practicing she comes across a kiddo like Braxton and she can say, Hey, I’m familiar with this.  This isn’t so scary, overwhelming, or what have you. Maybe a legislator finds it and says, wow THIS is what Medicaid pays for, or it’s people like this who NEED more services, and together we CAN do something about it.  The more stories that are put out for the public, the more awareness we can raise for a very real NEED!

Wear That You Care for Braxton

There are over 60 countries participating in World Rare Disease Day 2013 – that is simply phenomenal.  Whether you are a “One and Only” or have a disease that only affects 200 people worldwide, TOGETHER our voice is loud and we can ALL make a difference by standing together to bring awareness.You can join us in supporting Rare Disease Day by visiting the official website and also by visiting the Global Genes Project to learn about the “Wear That You Care” Campaign.  I encourage you to wear your favorite jeans (yes, a play on ‘genes’), share our story, or the story of countless others who are living with a rare disease…if just one more person knows about rare syndromes, then today would be a success.

Here is the official video for Rare Disease Day:

And here is the video from the Texas Mommies of Miracles showing off our miracles living with Rare Diseases and the “Hope” they give us.

Thank you for your support and helping us spread the word!

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