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!