Sunday, July 16, 2017

Walking miracle

Somewhere along the way I forgot to post an update for over a year now... and boy, do we have a lot of updates to share!

In April of 2016, Brielle was diagnosed with the rare disease of the STXBP1 gene mutation. We still often feel the weight of this diagnosis, it's still hard at times. It's easy to compare with "normal" children. It's easy to be consumed with fear of the future, which still holds many unknowns. It's easy to grieve over the loss of our own dreams and expectations for our daughter.
But then we look at Brielle. And we see what a gift she is to us daily. How she can drive as mad, wear us thin, and then melt our hearts without ever saying a word. She truly lights up our life!

Progress report:
Brielle has grown leaps and bounds this past year! We are in awe of the miracle she is and how she is so determined to gain new skills and thrive--in her own way and in her own timing. I've discovered that Brielle likes to surprise us. She takes her time, then all of a sudden she takes off with a new milestone.

The most notable progress is she learned to WALK in November! Just weeks before her fourth birthday she took her first steady steps, and now... there are moments we are chasing her! She now roams the house freely, causing mischief when we aren't looking... it's a wonderful problem to have.
We had prayed in faith that she would be walking by the end of 2016. And the Lord was gracious in giving that gift to her (and us).

...Not only walking, but GROWING too!
For some perspective, you might remember when she was about two years old, we noticed a standstill in growth/progress. In fact, she was diagnosed with "failure to thrive". So much for that! SHE IS THRIVING NOW!
From ages 1-3, Brielle only gained maybe a total of 3lbs and an inch or two in the whole two year period. I literally had doctors tell me everything from "well you are small too," and "kids don't gain a lot of weight after the first year, it's normal" and even "she just needs more calories. Feed her french fries and milkshakes." NOT EVEN KIDDING. Trained medical doctors prescribed my kid FRENCH FRIES.
Thankfully, her endocrinologist re-tested her thyroid and we got her on proper medication at the end of 2015. From age 3-4 she gained about 5.5 pounds and over 3 inches, and moved up a size and a half in clothing!

But weight gain isn't the only progress. She's also happier and more engaged. She understands simple commands and instructions. She can climb into her own big-girl bed. She says "dada" (when in the mood). She can hold a sippy cup to drink out of it. She can stand independently from the floor (instead of pulling to stand). These were all things she wasn't doing a year ago! We call all these "little" things "inchstones". Special needs kids rarely meet milestones at the appropriate times or even in typical ways. That's why we celebrate all the in-between moments. For her, they are HUGE achievements!

All this to say, she is a walking miracle... a WALKING MIRACLE.

Now, one of our next big goals for Brielle is not necessarily milestone related, but social and relationship related. We are planning a trip to Orlando in May 2018, where we will meet dozens of other families with kids who have the exact same genetic disorder as Brielle. This is an incredibly rare opportunity, because as some of you might remember... this is an incredibly rare disorder! There are less than 300 known cases WORLDWIDE. She's one very special girl.
And next May, we will sit face-to-face with these kids. Meet their parents. Their siblings. Form relationships. Be in awe of the feeling of "normal" for once. They are all like us.

The thing about STXBP1 is that it is quite isolating. As much as we are so grateful for the support we receive from family and friends, who care for Brielle (and us) deeply. It is still something that no one can completely understand. They just haven't "been there". And that's ok.
But to be in the same room with possibly 200 people who "get it"... who are living this day after day. There's nothing that can explain that. To see a child crossing his legs just like Brielle does (yes it's a common trait!), to look in a mom's eyes and know what she is feeling, because you feel it too. To smile when you hear all the unusual squeals and shouts and noises that sound oh-so-familiar. To finally meet all the faces we recognize via the internet.
You see, we are no longer strangers. We've been connected through our kids and now they are family. Through our facebook group and other avenues, we ask questions, post pictures, updates, and ideas. We share each other's burdens and rejoice at each child's progress.

May 2018 will be a once in a lifetime.
Oh, did I mention Disney World is in the plans too?! (But shhh don't tell our kids! They don't know yet ;)