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!

What a difference two months can make!

This is a post that I have been anticipating and hoping to write for a very long time. It wouldn't be too much of a stretch to label these past two months as a series of mini-miracles and milestones in Brielle's little world. We are far from through searching for all the answers, and I know she has a long road of progress ahead of her. However, the Lord continues to keep us hopeful and has brought us far on her journey in a short time.

Since we last wrote, Brielle has seen three specialists, had another EEG, switched medications, and added one medication. She also accomplished a big milestone and is more active than we've ever seen! This summer was certainly a whirlwind for her.

In a nutshell, we now have her seizures under control with the new medication. And we suspect that removing the previous medication is contributing to her alertness, new activity, and happy demeanor. She went from an occasional crawl here and there to finding myself saying multiple times a day, "Where did Brielle go?" I have never been so happy to have to fully "baby proof" our entire house! She now crawls from room to room on a daily basis with gusto and it is pure joy to watch.


I guess Brielle figured while she was at it, she may as well start pulling up to standing too! In the past week she has mastered this skill and she looks for anything and everything to pull up on now. We even had to lower her crib mattress! She has also made attempts to "cruise" on furniture, so knowing her personality--once she figures it out, she'll have that mastered in no time too!

one-handed standing & her adorable ankle braces

standing up! she now does this
without cheerio motivation ;)

Six months ago I certainly had my doubts about whether or not I would see her crawling or pulling to stand. Now I have hope that perhaps next year we might see her walking as well! We are so proud of her progress and often have a prayer of thanksgiving in our hearts as we see her getting around so easily. She seems so pleased with her accomplishments, too. :)

One other huge praise report is that FINALLY after almost two years of countless doctors and tests, we have an answer to some of her concerns. She has been diagnosed with hypothyroidism and is now taking thyroid medication to increase those hormone levels. I try not to focus on the "why didn't someone catch this earlier" ...shouldacouldawoulda. I am just thankful for SOMETHING to finally make sense, and something that can easily be fixed. This could improve many things for her... I'm sure in ways that we will not even expect. We are very hopeful that we will see more progress, activity, strength, and alertness over the next six months or so.

So, enjoy some happy pictures and videos of our darling little girl showing off her new skills, her new adorable ankle braces, and her proud smiles of a job well done. We thank you for your endless prayers and ask they continue as we move forward with hope.

swinging is her favorite!

lowered the crib. proud look ;)

love this smile!

You will lead us through the storms

It's been a rough week in Brielle's world. Her seizures have become uncontrolled for the past week, despite medication, and we now have a myriad of tests and doctor visits lined up once again, just like this time last year. Another EEG, a new pediatric neurologist... and we've scheduled a consult with a genetic counselor in Fort Worth next month as well, to get a second opinion before running labs for the genetic tests. So far, every single test, lab, and appointment has left everyone clueless because she is the healthiest mystery ever. All tests come back negative, all labs come back clear. On paper, she is perfectly healthy. But obviously something is still amiss.

But God is still good. And as I rushed out to the pharmacy to pick up a second prescription for our little girl today, this song comes on the radio. Tears burn at the corner of my eyes and I can't help but sing-pray the song out loud. It is my heart cry in this season. It is all we can do. It is especially what we should do.

"My Lighthouse" 

by Rend Collective

In my wrestling and in my doubts

In my failures You won't walk out

Your great love will lead me through

You are the peace in my troubled sea

You are the peace in my troubled sea

In the silence, You won't let go

In my questions, Your truth will hold

Your great love will lead me through

You are the peace in my troubled sea

You are the peace in my troubled sea

My Lighthouse, my lighthouse

Shining in the darkness, I will follow You

My Lighthouse, my Lighthouse

I will trust the promise, 

You will carry me safe to shore

Safe to shore

I won't fear what tomorrow brings

With each morning I'll rise and sing

My God's love will lead me through

You are the peace in my troubled sea

You are the peace in my troubled sea

Fire before us, You're the brightest

You will lead us through the storms

He will carry us safe to shore. He is our peace when the storms rage. Instead of asking "why send the storm?" or "Are you here when the skies grow black and the fear begins to rise in my heart?"

But I know He will carry our daughter through to safety, and He brings peace in the midst of stormy hearts and unanswered questions. 

In other news, this little one is CRAWLING now and pulling on furniture to high-knees! We are hopeful that the next step is pulling to stand. We just had an orthopedic appointment today and she will be getting some ankle braces and some other equipment to strengthen her muscles and bones, and encourage her next goals: STAND AND WALK!

Thanks for STANDING with us in prayer for our sweet Brielle.

In darkness, we embrace the gift

We continue with questions as we swim through the murky waters of an unknown future for our daughter. But we are never without hope. Never.
Just as we trusted the God of the universe with every intricate detail of pregnancy and delivery of this beautiful girl, we will trust Him with every day of her life. Regardless of the unlikely, uncertain kind of life she has right now. Regardless of the number of her days. Regardless of her needs. We know He can meet them, and in many ways better than we ever could.

Brielle is almost 29 months now. Her therapy seems to help in small ways, and she is thoroughly enjoying her hippotherapy (horse therapy) once a week now, too! But progress is painfully slow--slower than we hoped for-- and we are reaching a threshold of patience once again. A crossroads is emerging, and we must once again choose which path to take, which tests to run, which road to go down with our little girl in our search for answers.

Our next step seems to be genetic testing. Something we'd considered before, but held off to see if removing seizures from the equation was the only hindrance. Now, we're not so convinced this was just about seizures. Perhaps there's something else going on that we need to address.

Here's the thing with genetic testing. It is scary. It is overwhelming. It is crazy expensive. And, even if conclusive, it is often left with no real cure or answer. Just a label or title. A name to put to the problem we're facing. It also brings about fear. Fear of finding an answer we don't want to hear. Fear for her future. Fear for the health of our future children, if any. Fear fear fear. Ironically I fear being fearful. I actually worry about the possibility of fear. Sheesh, if that isn't a vicious cycle, I don't know what is.

And then I think on the book of Job in the Bible. The guy had everything, and then God allowed everything, including his own health, to be taken from him-- just to prove his faithfulness. Even his own wife gave up on him, and God...

2:9 His wife said to him, “Are you still maintaining your integrity? Curse God and die!”

2:10 He replied, “You are talking like a foolish woman. Shall we accept good from God, and not trouble?”

I don't want to be the foolish woman. I want to accept all things from God. Both what I see as good and what I see as bad. Both can be blessings, if we are looking for His hand in it. Both offer an opportunity to trust and grow in our faith.

I've been reading the book "One Thousand Gifts", and it is extremely timely in this season of life. It's the challenge to see everything as a gift from God. All things. Seek the gift, seek the beauty; even in the broken and hurt... we can find grace, healing, hope, and beauty from our Creator. Our Father, who loves us. He turns even those darkest things into something good--if we look for it. Not to say that He is the Author of evil-- by no means! But He is the Author of our faith. And he brings about good things to completion, if we are willing to embrace with open hands what He gives us.

Like I heard just last night from a friend--
To the things we like and enjoy, shout to the Lord, "Thank you!" and have a grateful heart. And to the things we don't understand or don't like, tell God "OK", and accept in faith. Like a child who is obedient even when they don't feeeeel like it, or when they don't understand their parent's rules. We can be obedient--without fear. Out of faith, because He parents us PERFECTLY. Without flaw or fail. We can trust in His goodness wholly. We can lean on our Heavenly Father, even in the hurt and confusion... no, especially in the hurt and confusion.

"Shall we accept good from God, and not trouble?"

These are weighty, raw, and painful questions. It hurts to hurt. It hurts to see others hurt. It hurts to see others suffer, to see our own suffering. To not understand, to question God's intentions, to question His love for us, to question ourselves. But those questions and hurts can draw us to our Creator, to grace and contentment. Even in the ugly, messy, terribleness. Even in the "why's" of life.

And our daughter? Shame on me if I miss this gift. This precious beautiful gift. This messy, imperfect, break-the-mold gift. This "God is my might" little Brielle-girl, with the sun-gold hair and the sly smirky smile and the unadulterated ocean eyes. The giddy greetings and the ornery protests and the quiet contemplative soul. The white-wrinkled fingers, soft from all-day-sucking, wet with drool, patting me softly on the face. The gentle goodnight nuzzle in the crook of my neck at day's end. These are gifts. She is my gift. And I embrace it.