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

Undiagnosed Children’s Day 2013

SWAN USA Banner

I wrote a little bit earlier this week (this post here) about some of our feelings about being undiagnosed and the upcoming genetics appointment looming in the air, but today I’d also like to share this video from SWAN USA (Syndromes Without A Name) featuring Braxton and many other children on the journey to diagnosis in honor of Undiagnosed Children’s Day.

Today, we celebrate Braxton and all of the children around the world who are still searching for a diagnosis.  Although all of our stories are different, we all share so many of the same joys and sorrows.  We celebrate every bit of progress no matter how small, because to us none of it is small.  We all know just how hard our child worked to accomplish things like tracking an object as it moves across a room, sitting up, rolling over, forming sounds, turning the page in a book, pulling up to stand, taking a few bites of food…everything that may seem so insignificant to the average person is cause for triumphant celebration for us.  And to those of you who have joined us on this journey and celebrate all of these steps with us, we can’t tell you how much it means to us to have your love and support.  We all worry about what tomorrow will bring, if our child will even see tomorrow, if taking our child on a play date will bring them life altering sickness, even if it’s not mentioned out loud, I guarantee it’s always in the back of our mind.  But, as I said in my last post, you can’t focus on the bad. You must make a conscious effort to hold your head high and keep moving forward.  One thing is evident to me as I read other stories of undiagnosed families..we all take it day by day and cherish today because tomorrow is not promised.  As I read through blogs or follow facebook pages, there are so many smiles and there is so much love in each and every child.  Despite their circumstances these children have so much to smile about and have a way of touching the lives of so many.

Today, I encourage you to keep them in your heart and celebrate their lives.  Every day, they are beating the odds. Every day, they are changing the world. Every day, they keep fighting. And every day, they fill the lives of so many with so much joy and happiness.  Braxton truly brings us more joy and happiness than we could ever imagine, and I’m certain the same is true for all of these children.  Don’t feel sorry for any of them. Celebrate them. Pray for their continued progress and the continued strength of their family. Take time to get to know them and share their stories.  Pray for the science and technology to catch up to them before it’s too late.  Pray for answers. Pray for courage if answers cannot be found.  Thank you all so much for joining us on this journey. It’s far from over, and your love and support help keep us going. I simply cannot thank you enough.

To our fellow families along the journey, today we celebrate with you. Happy Undiagnosed Children’s Day, keep up the great work with your child, you are truly doing an amazing job! Much love, from our family to yours! ❤

And just in case you didn’t know, our blog now officially has a page on Facebook.  Come on over and ‘like’ our page to see even more on our story every day and meet some of our other precious friends on their own diagnostic journey.

Happy Undiagnosed Children's Day!

Happy Undiagnosed Children’s Day!

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