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!


  1. I LOVE the faith shown in this post. Specifically the peace surrounding the knowing does not define who God has in store for her to be in her future. We will keep praying and standing in the gap for this little girl always!!

  2. Praying for all of you. My Granddaughter had Tay-Sachs disease and their is no cure that either. She lived for 5 years and we enjoyed every moment that God let us. Enjoy all the time you can with her during her journey. She's a Angel from God and with your help she'll enjoy her life with you and your family. Take care. I'm a friend of Mary Tack.

  3. Thanks for sharing this update. So glad you have found a support group, because that will be your best source for information. Your journey with Brielle may not be easy, but with that adorable smile she is so worth it. Continued prayers for your family.

  4. Dear Charisma, my heart goes out to you and Jonathan. This post truly brought me to tears. It pains me to hear of Brielle's struggles knowing those you bravely endured with your beloved mom...yet I found it beautiful in spirit and spoken with such grace. A testiment to your love, strength and unshaken faith. We stand beside you in this Village ever so willing to help in any way. We love you dearly and I feel blessed to call you my cousin. Brielle will continue to amaze us and touch the world in her own special way. After all, she has remarkable parents. You are a true inspiration! Hugs, Heather, Nick & Emberly

  5. My baby had a mutation in the stxbp1

  6. My baby had a mutation in the stxbp1

    1. M.t. thanks for your comment. are you on the Facebook group Parents of Kids with STXBP1? - dad of Brielle