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STXBP1 Foundation (STXBP1 Disorders)

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Raquel Good is fundraising
Kiki's Fight to Cure STXBP1
Hi, my name is Raquel and I am raising money for the STXBP1 Foundation in honor of my daughter who has been diagnosed with STXBP1 encephalopathy.

We have been through so much... Through becoming a mom at 16 and a mom of 2 at 19, graduating high school, then going to college, graduating with an AA, then a BA, going to grad school, graduating with a master's in psychology, all while working and traveling with my younger daughter as a competitive cheerleader and taking care of Keyarah's increasingly complex needs as a single mom... I have learned how many things I am capable of accomplishing alone. What I cannot do alone, though, is cure STXBP1. That is why I started this page.

I so badly want my daughter to experience life without the debilitating seizures she experiences multiple times a day. I would give anything to hear her speak a single sentence. Keyarah is currently 19 years old and I have never heard her call me "mom"; I've never heard her say, "I love you." Watching her regress from a once overly active child to one who has a hard time standing and walking alone has been heartbreaking.

The STXBP1 Foundation is comprised of parents of children with STXBP1. I am so in awe of and inspired by what these parents have achieved. They have worked tirelessly to identify doctors and researchers dedicated to finding successful treatments and a cure for Keyarah and the other children with an STXBP1 disorder. When Keyarah was diagnosed in 2017, the doctor told us there were 300 known cases in the world. The genetic counselor told us with a condition this rare, it was really up to the parents to work on making a difference. And that is what we are doing. Rare disorders struggle to get enough funding to conduct impactful research. The STXBP1 Foundation is fundraising to support continued research and clinical trials of potential treatments (this is HUGE).

What would a cure mean to me?

Over covid and throughout grad school, I had to make sacrifices. One of those was my health and fitness. I am working on getting back in shape, and I joined a new gym. There is a flag on the wall that says, "Discipline equals freedom." That really spoke to me in terms of diet and exercise. I immediately understood it to mean that if I wanted the freedom to move about as I wanted without limitations in mobility or endurance, I needed to be disciplined in my fitness regimen and food consumption. But when I was asked what a cure would mean to me, I knew it would mean freedom in a similar way. I have to be highly disciplined when it comes to taking care of Kiki. I have to measure her food out down to the exact ounce; I have to measure her medications to the exact milligram; I have to make sure she takes her meds at the same exact time every day, that I pick up her meds on time, that I have her on a sleep schedule, change her diaper on time, and so on and so on. But given all the discipline I have, there are still so many things that I cannot control and these things hold us back from a free life where we can pursue what we want, when we want to. STXBP1 controls our future, past, and present. I can only be so disciplined as a parent. We will not have complete freedom until there's a cure. My daughter is an adult, but I have to take care of her similarly to infant care. I live in constant terror of what her regression means and how her seizures are developing. A cure would give me so much hope for a future for Kiki, and it would give us freedom.

We strongly believe a cure is possible.

It starts with funding the research for that to happen. Every single cent raised with this fundraiser will go directly to the STXBP1 Foundation to support their research endeavors.

Our Story

I became a teen mom when I was 16 years old. Keyarah was born on April 15, 2003. As teen parents, her father and I were not able to maintain our relationship and eventually, I became a single mom. I always knew I wanted to go to school to study psychology, and although my journey was far from linear, I kept pursuing that goal.

When she was born, so many friends from our high school loitered in the hospital hallways in excitement. I am sure it was an unusual sight. I was so afraid and nervous. But as soon as I saw her little face, I was instantly in love. I knew in that moment I would go to the ends of the earth for her. I knew I had to achieve my goals of finishing high school, getting a degree and a good job. I had to provide for her, make sure she could follow her dreams, whatever they may be, walk her down the aisle one day, teach her how to drive, and just support her in any possible way I could and protect her from anything that could possibly hurt her. Little did I know, I would indeed need to fight for her in a very different, unanticipated way.

Although I was removed from the traditional general ed classes in high school to the "pregnant teen program" in the bungalows at the back of the school to learn more about parenting and child development, as a teen mom, I wasn't able to recognize when Kiki wasn't meeting developmental milestones. The doctors picked up on it right away at her one-year-old check-up. At 1, she wasn't crawling, walking, or meeting speech milestones. Most one-year-olds speak their first words, and many are walking already. She didn’t crawl until she was 13 months old and didn’t walk until after she was two years old. This is what started our new journey with countless specialist appointments, testing, and the start of therapies: occupational, physical, speech, and even music therapy.

As the years went on, I worked various jobs and bounced around a bit. I had another daughter, Malaya, and even joined the Army. I was quickly discharged due to not having childcare to even attend boot camp. Eventually, I enrolled in Community College and then transferred to UCSD. I worked a few years after college and was finally accepted into a master's program, but it meant a lengthy commute. Long days, and late nights, it was extremely hard. It was not the type of program where you are guaranteed to pass - in fact, not everyone in my cohort finished. I also earned a spot in another prestigious fellowship training program which meant even more hard work.

Getting Diagnosed with STXBP1

About a year into my program, Keyarah was almost 14 years old, and she had a seizure episode like never before. It was terrifying. She was convulsing, she couldn’t walk, she was vomiting. I called an ambulance and had a friend come pick up Malaya. Keyarah was admitted to the local children's hospital and the doctors did so many tests. We came out of that admission after about a week with basically “constipation” as the cause. This wasn't convincing, but she was better and I had to get back to work.

A few weeks later got a call from her neurologist with test results from a genetic test I didn’t even know had been done. She had a mutation on the STXBP1 gene. What?

The STXBP1 gene is located on chromosome 9q34.1 and was discovered in 2008 (ironically, this same year, her doctor noted she should be tested for a genetic disorder, but insurance wouldn't cover it). Her doctor told us there were only 300 known cases in the entire world. Not just in San Diego, or in America, but in the entire world. He told us there was not a lot of information about it, told us about what he could find out, and referred us to a genetic counselor. In the meantime, I dived into my own research. I found Facebook groups and connected with parents.

STXBP1 actually stands for Syntaxin Binding Protein 1. In short, changes on the STXBP1 gene change the way neurons communicate with each other. These changes lead to the symptoms that Kiki has and STXBP1 has recently been identified as one of the 5 most common genes for epileptic encephalopathies and related neurodevelopmental disorders. The mutations on the gene differ for each kid, and as such, there is a lot of symptom variability. Some kids with STXBP1 never walk, and some function well enough to drive! We only know of one other kiddo with Kiki's gene sequence. STXBP1 mutations are considered to be de novo, which means it happens for the first time in an individual. These mutations happen by chance during development. For more detailed information presented way better than I can explain, please check out: https://www.stxbp1disorders.org/what-is-stxbp1

When we first received the diagnosis, I was ecstatic. I know that many people who receive new diagnoses wouldn't typically feel this way, but it had been fourteen years of an ever-growing list of diagnoses - none of which perfectly fit Kiki's symptoms. This was an answer. This gave me hope. Maybe now that we knew exactly what she had, we could figure out how to best help her.

I saw pictures of other STX'ers doing some of the things I thought only Kiki ever did. The STX Leg Cross. Kiki has done this since she was an infant and still does it at 19. There are so many other kids with STXBP1 who do THE SAME THING! I know it doesn't tell us much of anything, but it is so fascinating.

Then, one day, I was on my 2-hour commute to school when I burst into tears. I had seen a few posts about some kids with STXBP1 who passed away. I learned about SUDEP, which stands for Sudden Unexpected Death of Someone with Epilepsy. Until then, I never ever considered that I might not have my Kiki forever. I knew I had to plan for her after my own death, but the thought that she might not outlive me - it was (and is) too unbearable to think about. I cried and made it to school and parked and couldn't stop crying. I missed my first class that day.

One thing that made learning this so hard was learning that some of the kids passed away after regressing. Keyarah has started regressing too. I'm not sure if it is her anti-epileptic medications, the progression of the disorder, or something related to hormonal changes since going through puberty, but I never saw it coming. It used to be that one of the hardest things about taking care of her was that she would not sit still. She would get up and go into the kitchen and eat everything in sight, or worse, she would sometimes escape the house and we have found her down at the neighbor's house! I couldn't do anything like use the bathroom, take a shower, or be out of her sight without someone helping to watch her. She once even drank the chocolate syrup straight from the container... I have to admit I would do it too if I could!

Now one of the hardest things is seeing her struggle to stay awake throughout the day, and struggle to stand up or walk alone. Everyday things like taking a shower are dangerous for her because of how many seizures she has. She falls in the shower and it is so hard to get her up. She has seizures that range from mild - staring-like seizures - to full-on convulsive seizures. It is so hard to watch her go through this without being able to help. She usually is struggling to breathe after the bigger ones and they usually knock her out. Sometimes she wheezes when she comes out of seizures and I have to give her a breathing treatment with a nebulizer and albuterol. Routine things like filling her medications are also a consistent struggle. Since she is on so many it seems like I am always struggling to get one of them filled. I spend a lot of time on the phone with the pharmacy.

Defying the Odds

About 50% of teen moms graduate high school. Only about 2% of teen moms graduate college. I couldn't find data, but we have to deduce that less than 2% of teen moms go on to complete graduate degrees. The reason I shared so much of my life story is because I hope you can see I NEVER gave up. NEVER. But there are things I cannot do on my own… I need my community to help support the fight for an STXBP1 cure.

How can YOU help?

1. DONATE. Every little bit helps! No amount is too small, and all donations are tax-deductible. Check to see if your employer matches gifts here: https://www.stxbp1disorders.org/matching-gifts

2. SHARE. Share on all social media! You can use the following hashtags: #KikisCure #cureSTXBP1 #raredisease #epilepsy. Please email this link and these steps to all contacts you know.

3. FUNDRAISE. Leverage any avenue you have to make this go viral! Or start your own fundraiser by contacting info at stxbp1disorders.org!
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Lauren Jensen is fundraising
Austin's fundraiser for STXBP1 disorders
September is awareness month for STXBP1 globally, as STXBP1 is a mutation sitting on the 9th chromosome and September being the 9th month of the year. All the money we raise will go to the STXBP1 Foundation in the US. They are a parent-led organisation, and the only entity that drives research into treatments for this extremely rare condition. The donation currency is in US dollars because of this. Your donation will go directly to the STXBP1 Foundation whose mission is to promote awareness of the disorder, accelerate research, and advocacy.

What is STXBP1 disorder?

STXBP1 is a gene which is important for normal brain function. It plays a vital role in the release of chemicals in the brain (neurotransmitters) which the brain cells use to communicate with each other. A disruption or the absence of this gene results in abnormalities in the function of the brain leading to seizures, developmental delay, learning difficulties and behaviour problems.

There are about 750 known individuals with STXBP1 disorder worldwide and just over ten children here in Australia. They have a wide range of abilities; some are mobile, most are nonverbal, some get control of seizures and others still have seizures every day.

Austin's Story

Our son Austin entered the world as a healthy, happy baby on June 23rd 2021. Two days home from the hospital, at only seven days old he started experiencing seizures. The next five weeks would include three trips to the emergency room, two hospital stays and one ambulance ride; all amongst the backdrop of isolating covid lockdowns. Austin endured invasive blood collections, lumbar punctures and catheters in addition to MRI’s, ultrasounds and EEG’s until we finally got a diagnosis.

At six weeks of age Austin was diagnosed with STXBP1 disorder via genetic testing. In Austin's case, he has a single letter change in the STXBP1 gene. One little letter change with a very big consequence. Austin is currently on anti-epileptic medication but still suffers from breakthrough seizures weekly. Whilst his future is unknown, we won't give up hope for a cure for our little fighter who continues to delight us with his growth week on week.

Thank you in advance for all your support and please feel free to share this fundraiser with your community.

To learn more about the condition and the clinical research currently being undertaken head to: www.stxdisorders.org
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108 supporters
Heather Jones is fundraising
Camden's STXBP1 Cure
Before the birth of our third child, we were quite literally the Joneses down the street.

Then our sweet Camden entered the picture and every shred of the normalcy that we ever knew quickly went out the window. Camden initially shocked us with a bilateral cleft lip and palate that went undetected in utero, but that was just the beginning....

When Camden was just three weeks old, we were blindsided with the most devastating news that would shake our entire world, change our life trajectory and turn our whole family upside down. It turns out that Camden had a genetic microdeletion and was missing 4 million base pairs, including the STXBP1 gene. The deletion of this gene resulted in a very rare neurological disorder with only about 300 patients diagnosed worldwide. It was then that Camden’s genetic counselor told us, while her hand was shaking and her cheeks were flushed, that our son may never walk or talk and have we noticed any seizures? We should watch him even when he’s sleeping because he will probably develop epilepsy... exactly what parents of a newborn want to hear.

We were in denial for the first few months while we dealt with the clefts, but then started researching this disorder – what were those letters again?? We had to dig up the genetic report in a pile of medical pamphlets we had received and found them – STXBP1. After some googling and joining facebook groups, we found out that STXBP1 disorder affects the brain and nervous system due to impairment of transmission between nerve cells. Patients with the disorder typically exhibit early onset epilepsy, global delays, cognitive impairment (mild to profound), movement disorders, autism spectrum and are nonverbal. There’s no way that’s what God has in store for Camden – no way. We then started searching for scientific research, studies, trials, treatments and came up pretty much empty handed.

It was then that we decided we had to do something, ANYTHING, to help our son. We couldn’t sit on the sidelines and watch this play out. We wanted more than anything for him to live a typical life – to play with his siblings, run with his siblings, heck, even fight with his siblings. We assembled Camden's dream team of over 15 doctors, specialists and therapists and we began therapy to help with any glimpse of development we could.

At the same time we became active in the small but tightknit STXBP1 community, we began fundraising, we attended conferences, we researched words we had never heard of, and Youtubed videos on genetics and DNA that we had forgotten since 7th grade science class.

But it’s not enough. All the while, our sweet, full of joy boy is having uncontrolled seizures, extremely developmentally delayed and he is not able to communicate with us. His seizures started around 19 months old and despite trying numerous anti epileptic medications, the ketogenic diet, CBD and everything else we can think... the seizures persist. Some days when Camden clusters, he has up to 40 seizures before we can get them under control with either rescue medication or medical intervention at the ER. SUDEP (sudden death in epilepsy) is a real risk for us, it affects about 1 in 100 people with epilepsy and lingers in our minds every single night. SUDEP has already stolen too many children from our small STXBP1 community, and we will fight and fight to prevent one more family from losing one more child due to seizures.

We must do more. These kids deserve more. These families deserve more. And we won’t rest until they do.  We are so hopeful and encouraged by the work going on in the labs of our small and dedicated research community. There are some very promising therapies being worked on that when the proof of concept is validated, we want to be able to drive it forward. We want to be able to fast track the clinical trials and the FPA approvals and all of the other red tape that stands between getting it from the labs to these children.

But that takes money... and a lot of it. Asking for help is not something that comes easy to us, we do hard things in our family and we are tough as nails, but we can't do this alone. WE NEED YOUR HELP!!

As a community we want to raise $1.5 million by the end of 2022 in order to make significant progress on therapy development and clinical trial readiness. PLEASE HELP US GIVES THESE KIDS A FIGHTING CHANCE!!

WAYS YOU CAN HELP:

1.     DONATE Every little bit helps! No amount is too small and all donations are tax deductible. Check to see if your employer matches gifts! We also would LOVE to cultivate corporate relationships.
2.     SHARE Share on all social media with hashtags #cureSTXBP1 #CamdensCure. Email this link and these steps to all contacts you know.
3.     FUNDRAISE Leverage any avenue you have to make this go viral (or send leads/tips to heather.jones at stxbp1disorders.org). Want to partner and have a fundraising event? Hit me up!

QUESTIONS:
1.     Where will this money go? I can personally attest that every penny will go to research being done right now on STXBP1 through several amazing hospitals and institutions around the world. We are currently racing against time to fund this research, trial and ultimately cure all STXBP1 children. We are strictly volunteer based parents working toward a cure.
2.     Is my donation tax-deductible? Your donations are fully tax deductible as we are a 501c3. Our EIN is 82-1439459. If you made a donation over $250 you will receive via email and below $249, your credit card records are sufficient.
3.     Where can I learn more? Check out our website at stxbp1disorders.org to learn more about the disorder and sign up for our quarterly newsletter.

THERE IS A CLEAR FAST TRACK PATH TO A TREATMENT:
1. Create proof of concept
2. Manufacture clinical grade drug production
3. Final safety studies
4. FDA approval to proceed with clinical trial
5. Start clinical trial

Thank you thank you thank you thank you a million times over for giving us hope, supporting a family, and rallying behind our boy so we can give him the best life possible!!

With lots of love in our hearts,
Matt, Heather, Clara, Ralston and Camden
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358 supporters
Ben Shipley is fundraising
A million steps for STXBP1
All of us have little errors in our genes.

Most of us are lucky to have these errors in places that don’t make much of a difference.

We are raising awareness and funds because our gorgeous little girl Coco, has one of these errors in a place that really matters. Coco is missing the tiniest slice of DNA on her ninth chromosome. It’s a tiny slice that causes very large consequences.

Coco has just learned to take her first independent steps, something we were told was likely to never happen. We’re going to use this inspiration to do something great.

Over the course of this month, our family is going to take a million steps for our little girl. We’ve set up an Instagram account (@a_million_steps_for_STXBP1) if you’d like to tag along and share your support. If you can, we’d love your support in funding research to benefit all kids with STXBP1.

September is STXBP1 awareness month globally. All the money we raise will go to the STXBP1 Foundation in the US. They are a parent-led organisation, and the only entity that drives research into treatments for this extremely rare condition. The donation currency is in US dollars because of this.

Coco’s Story.

We wouldn’t change our Coco for the world.

We would love to make her load a little easier and allow her the basic human opportunity of living an ordinary healthy life.

We would love Coco to be seizure-free. Coco’s epilepsy is due to the change in her gene and has proven resistant to treatment. In her 4 years, Coco has been on more than 15 medications to try and control her seizures, and at this current time, her seizures are not medically controlled. Coco’s epilepsy is a complete disrupter. The seizures set back Coco’s hard-fought skills and on a bad day rob her of the ability to chew, stand or sit. It is heartbreaking.

This is not a sad story. We have much to be thankful for with our amazing little girl.

Coco is quite possibly the happiest little four-year-old you could ever meet. She shows up every day, giving 100% to her therapies, and has determination and bravery in spades.

Coco is so very loving and empathetic; when one of her team is having a bad day she will pat their arm, if a friend at kindy is sad she will sit with them or give them a kiss.

Coco works very very hard to gain the smallest of inchstones and rarely grizzles. Every skill is so hard-fought and requires quite the entourage.

Coco is a complete performer and loves to dance. She highly rates Bob Marley, Teeny Tiny Stevies, and the Rolling Stones. We are so proud of her excellent taste in music.

Coco is nonverbal but her intention is strong. We know that communication is an essential part of her being able to make her own choices, and her understanding surprises us daily and she never misses an opportunity to let you know she loves you.

We are all beyond proud of our little girl and what she achieves. We really couldn’t love her more and every day she wakes with her little giggle is a wonderful day.

What is STXBP1?

Genetic conditions are complex. I need to share that this is not the way our Neurologist or Genetics Team described STXBP1, but hopefully will help you understand things a little, at least.

Syntaxin Binding Protein One is a chemical that helps to build connections between neurons in the brain. The production of this protein is described by a gene on the ninth chromosome. STXBP1 disorders occur when there is either a deletion in the gene, or the correct spelling of the gene is jumbled up.

There are about 700 people around the world with an STXBP1 disorder and just over ten children here in Australia. It was identified 10 years ago, and the oldest living person is in their 40s.

It can help if you think of the brain like a railway network. Connections between neurons are like the track we place between stations. Tracks allow us to move quickly between places that are important, so as we learn new things, we lay down track. Kids with STXBP1 disorders take longer to lay down these tracks than you or I. Sometimes much longer.

STXBP1 causes developmental delays, epilepsy, and an increased chance of SUDEP. There is no magic pill. Rare diseases like ours rely entirely on their community of parents and loved ones to raise awareness and funds for life-changing treatments. We believe it is important to step up, not just for our little girl but for our whole STXBP1 family, as well as giving hope to the babies who are born with this disorder down the track.

We hope that with our love and support, Coco will live a long and happy life.

Thank you,

Ben, Chelsey, Otis and Coco x

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218 supporters
Heather Jones is fundraising
36.5 Miles for Camden's 365 Days
Hi there and thanks for stopping by our fundraising page! On October 4, 2018 I will be running 36.5 miles (36.5 laps around Womble Park) to celebrate Camden's first 365 days of life. This kid is such a fighter and my own personal hero… he has already endured more hours of surgery and more pokes and prods than most adults ever have. Not only has he endured, he has persevered and been tougher than I ever believed was possible! Now that his major surgeries are behind him, Camden can work on developing and growing in all aspects of his life. Many of you have followed Camden's cleft lip and palate journey via social media, but I have been more reserved on his genetic disorders and have not shared that journey. A little background on what this means….

Do you know what it is like, when your child is three weeks old, to be told that he may never walk, may never talk, will probably develop epilepsy, and will experience some form of learning delay whether it be mild to profound? We do. I remember that day so clearly no matter how badly I would like to forget it. We had already come to terms with Camden's cleft lip and palate and all of the future obstacles that may present themselves, but this prognosis seemed too surreal. Birth defect? Genetic mutation?? Nope, not this family, you've got the wrong one this time, God, this can't possibly be happening to us. Our Camden, our third little perfect child, he had a genetic microdeletion and he was missing over 4 million genes. It took me over three months of denial and just pushing it out of my head before I could look at the paperwork that the geneticist handed to us after shattering our world. It wasn't until then that I started my research on STXBP1 (one critical gene included in his deletion) and what this diagnosis would mean for Camden and our family. Any special needs parent knows that their child "can be anywhere on the spectrum" and you hope and you pray that they are on the "good end" and you sign them up for every damn therapy you possibly can.

STXBP1 is responsible for relaying signals between neurons and is critical for normal brain function. A mutation in this gene is known to cause epilepsy, global delays, mild to profound cognitive impairment, autism, movement disorders, cerebral palsy, and the list goes on and on. Needless to say, it is a very important gene that he is entirely lacking. At this point, Camden has not yet had any seizures, although repeat EEGs have showed that he has multi focal discharges in the temporal lobes of his brain. These discharges could manifest themselves into seizures at any point so we remain on high alert. Camden is considered severely to moderately delayed right now and is receiving PT, OT and ST to try to bridge the gap and continue moving forward.

We know where we currently are on the spectrum, but what if the actual spectrum could be modified?? What if there was something out there that could help all of our STXBP1 kids replicate this crucial gene that they are lacking?? It is certainly an exciting time in the world of gene therapy and with the first RNA drug to treat a rare disease recently being approved by the FDA, we don't want to be left behind! Families affected by this STXBP1 disorder have set up a nonprofit foundation "focused on advocacy, driving research, and providing our families and their physicians with information and resources" which you can see here: http://stxdisorders.org/ . 110% of all funds I raise will go to this foundation to further their mission and keep STXBP1 research moving forward.

Why run? Running may seem a bit silly and not directly related to Camden's prognosis, but its all I know to do. On the brightest days and on the darkest days, to clear my mind or to clear my tears… whenever I can. I run. I run. I run. Unfortunately my background is in accounting and not gene research, so for the time being, this is what I can do to raise awareness surrounding this disorder. I'm not sure what my next move will be, but if you know me, you know I'll be damned if I take a sideline seat to a prognosis like this. I will fight every last fight I can for Camden.

Camden, you are loved SO much my little fighter!! Mommy will not rest until you can run into my arms saying "I love you," until you can sing The Greatest Showman soundtrack with Clara, until you can wrestle with Ralston (we'll talk to him about being gentle) and until you can kick the soccer ball with Daddy. Let's do this, son, we've got our work cut out for us!
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STXBP1 Foundation (STXBP1 Disorders) is a 501(c)(3) public charity, EIN 82-1439459. Donations are tax-deductible. Select content is provided by Candid.

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