Saturday, October 28, 2017

He knows.

Display in the new waiting area
I got tears in my eyes during the grand opening of the new building at the kids therapy center, Midland children’s rehabilitation. They had put a permanent picture display in the waiting area and I was surprised to find a photo of Brielle prominently placed! The staff here love on her and care for her in more ways than I can understand. I’m so so thankful that God brought us out here to west Texas, not even knowing anything was abnormal about my then-six-month-old daughter... and how invaluable and crucial this place and these people would be for her.
But HE knew. ❤️

Brielle with her Physical Therapist, Brooke
Brielle is still our happy wild little girl. She speed-walks from room to room, and looks people in the eyes with wide excitement, speaking a whole volume without a single word. She’s getting more proficient at comprehension and following basic instructions like, "Time to eat, go to your highchair." or "Where is your toy? Go pick up your toy."

Custom gates Jonathan built!
Jonathan built custom “Brielle proofing” gates for the kitchen, as a safety precaution. She’s getting taller and entirely too curious. And I don’t have the money to replace all my dishware that she’s constantly pulling off the counters! Part of her genetic abnormalities include no awareness of danger, and the kitchen is full of those dangers. Necessity births ingenuity, thank you handy daddy to the rescue!

Love how much she is smiling these days!

In other exciting news, Brielle is on the waiting list to do a 30-day trial for an eye gaze communication device. If that sounds like something out of a sci-fi movie, it pretty much is. She will look at pictures on a screen, and the device’s camera will track her eye movement to detect which picture she is preferring. It will then “speak” that word for her! If she does well for the trial and seems ready for it, we will pursue purchasing one to give Brielle a voice. Pray she is ready to understand and engage appropriately, as this could be a huge milestone towards more independence and understanding of her needs and who she is! It would be wonderful to “hear” my daughter speak her own thoughts!

This beautiful girl continues to teach me so many things. It's hard to believe she will be five years old in December! I find myself daily looking at her in awe of how wonderful of a gift she is to me, and I can not imagine life without her. 

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 ;)

Monday, March 20, 2017

The Gospel According to a Minivan

Saturday night we were the recipients of extravagant generosity. I've cried three times since just thinking about how good the Lord is to us, and how blessed we are to have the co-workers and friends that we do.
We were given a new minivan. A MINIVAN. Not just a run-of-the-mill breadbox-shaped soccer mom van, either. It was a dream vehicle. We call it the spaceship. Bells and whistles and everything in between. It was a vehicle we knew would take years of saving to afford. Years of being in debt to obtain. It was simply: out of reach. And I was ok with that. I'm a practical person and would have continued to press on with our oldschool 1999 Dodge minivan with the hand-crank windows and the dashboard that went kaput 3 months ago.  With a short-list of mechanical problems (not to mention 160K miles), we knew it was less than reliable, but it was running and functional and we'd make due.

But this generous gift through my husband's company came purely out of appreciation and care for our family. It was extremely thoughtful and personalized to our needs. They found a way to pick out EXACTLY what we wanted (albeit something we never thought we'd have). And they handed us the keys without any expectations. They joyfully gave with smiles on their faces, and the love of Jesus bursting at the seams.

I've never received such a gift to this extent before (though we have received blessings of generosity from many over the years, which we are grateful for). But this to me seems like a beautiful picture of the Gospel. A picture of our Heavenly Father and how He cares for His children without exclusions or caveats or restrictions.

When God sent His only Son to the World for our redemption, it was a gift we could not give ourselves, that could not be bought or obtained even through great effort and hard work. Salvation was given to us FREELY.

And what should our response to this be?

Well, when given this van, my responses were all over the place. Speechlessness. Shock. Disbelief. Overwhelming gratitude. Some unexpected feelings, too. Suspicion, "Why me? What's the catch? What do I have to do to repay you? What do you want from me?" And even guilt, "This is too much and too good for me. I don't deserve this. Good things like this don't happen to people like me."

All of a sudden, I see the parallel between the Gospel and a minivan.

Just as we were given something freely that we couldn't earn on our own. So it was with God, generously and graciously offering us the gift of Eternal Life--something we could not achieve on our own merit.

And our response? Shouldn't our gratitude be even more so than how you would respond to receiving a minivan? Or if Uncle Joe left you a million dollar trust fund? Or if someone paid off a school or hospital bill anonymously? Or even if a friend brought you a meal and watched your kids just because they love you?

Shouldn't we cry and shout and be moved to speechlessness and our hearts be overflowing with thankfulness for his GREAT GENEROSITY through Christ and the cross? Shouldn't this eternal gift CHANGE us and motivate us and move us towards repentance and gratitude?

This minivan is a tangible reminder for me to be in awe of God's grace towards us. To appreciate and be grateful for his goodness and kindness, no matter what life brings... even when we don't get the minivan. Even when prayers aren't answered when or how we expect. Even when life is tight and tough and hard and sorrowful. I'm renewed in trusting that His timing is good and perfect and we are not forgotten. We are loved. And His gift of Salvation has already proven that.

"Now to Him who is able to do exceedingly abundantly above all that we ask or think, according to the power that works in us, to Him be glory in the church by Christ Jesus to all generations, forever and ever. Amen." --Ephesians 3:20-21

And now our response is: Let us use this gift to further glorify Him. It will serve our family needs for many years... and we are thankful.

Turn your eyes upon Jesus,
Look full in His wonderful face,
And the things of earth will grow strangely dim,
In the light of His glory and grace.

--Helen H. Lemmel, 1922

Wednesday, April 6, 2016

STXBP1: Brielle explained, but not defined

I am happy to report that we have the long-awaited answers to Brielle's health issues. ANSWERS. Full, weighty, real, hard, factual answers.

We had a whole-exome sequencing panel done for genetic testing 4 months ago. STXBP1 might sound like computer codes or a Star Trek spaceship, but to us, those 6 letters have consumed our world because it [finally] explains our daughter.  Our very unique one-of-a-kind daughter with a neuro-developmental genetic disorder that only affects about 150 reported cases WORLDWIDE.

STXBP1 means nothing to anyone unless you google it, and even then, it's a lot of medical jargon to filter through. But all anyone, including ourselves, wants to know is, "what does this mean for Brielle?"

Good question. And we kind of know some of the answer. Sort of.

But first, I want to say, I am thankful.

Thankful for a diagnosis. A name to explain everything. No more unanswered questions and fears and worries of the unknown.

I am thankful for the timing of technology. The specific genetic testing we did has only been accessible to the public for a handful a years. STXBP1 has probably only been named for about a decade. It is a newly-discovered genetic disorder. Brielle has been diagnosed very young compared to many, and for that I am grateful.

Thankful we are not alone. We are blessed to have already found a support group via Facebook specifically dedicated to parents of kids with this medical condition. Almost 300 members, 70 documented children represented. I have learned more about this disorder in just a few short weeks from this community than any amount of googling or talking with doctors and specialists. It is invaluable.

I am thankful that, long ago, the Lord prepared my heart for such a time as this. Since before I was born He planned to enable me to understand what it is like to live with a family member who has special needs and disabilities. My mother, who battled Multiple Sclerosis for about 25 years, unknowingly gave me the gift of understanding. I grew up watching her struggle with this disease, and watched others struggle to know how to interact with her and help her. What a beautiful gift she gave to her granddaughter that she never even had the opportunity to meet: the gift of [unwanted at the time] experience that has prepared my heart to care for my child in a unique way. Not to say that I don't struggle and it's not hard. But I do feel very grateful for my own upbringing, concerning Brielle's needs.

So, what does this mean for Brielle specifically? What will life look like for her long-term?

STXBP1 is primarily a genetic disorder that affects development, intellect, and often causes seizures.
She may stop [and restart later] seizure activity. She will have limited motor function--but to what degree, we don't know. She will have intellectual disabilities and limitations. She will most likely live a normal life-span, assuming no other medical conditions complicate things. And we expect that she will probably not live independently from us. It explains her muscle weakness, her oral fixations (sorry if you ever got a "love bite" from Brielle ;), her lack of communication, her seizures, and her lack of development in general.

What this disorder doesn't explain is her future. Each child is different. Each child has varying degrees of disability, communication, seizure activity, and skills. Some run, jump, talk, and go to school. Others do none of those things and are more medically fragile. Brielle, so far, is somewhere in the middle.
So Brielle will need to show us what she can do, what skills she can gain, what she can achieve over the years. We will go at her pace and timing--trusting that it's God's timing. Genetics may explain her on paper, but they don't define who she is and how God sees her. It can't define God's ability to work in her life in whatever way He sees fit. And it can't explain her beautiful heart.

Although we wish this was a "find X disease and give X treatment and then she is cured" situation... God has bigger plans than we can understand. We don't doubt His goodness. We're not angry or fearful. He has given us peace and a growing love and understanding for our precious girl. We continue to receive the gift and consider it a blessing to parent such a unique and special child.

Just days after we received her diagnosis, I heard this song on the radio. Peace overcame me as I was reminded of Who cares the most for us. Who cares the most for our daughter? It is the very One who created her. She is not a mistake, and He is not surprised. He is still in control. He will anchor us, sustain us, and carry us through.

You, as our friends and family, have been our greatest encouragement through this journey. The way you care for, pray for, and love on our daughter is unmatched... and we are grateful.
I hope you don't see this as a journey ending. It's really just beginning! We covet your continued prayers and encouragement as we embark on a lifelong journey in caring for Brielle. It will take a village, and we are glad you are in our village!

**In other smaller but still important news: Brielle's thyroid is functioning at normal levels again thanks to her medication over the past 6 months. And she has gained 3 pounds and grown 1.3" during that time!