Get to know a little bit more about us, our children, and how we found out about our kids’ diagnosis of the STXBP1 genetic disorder.
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Kendall was our first baby. The pregnancy and birth were uneventful, and all typical screenings and check ups following were great. We had no indication that we were dealing with anything out of the ordinary. Shortly after Kendall turned two months old, she began having seizures. The seizures were subtle, I guess you could say, as no one outside of our immediate family could see them. With epilepsy, subtle doesn’t mean harmless. Hundreds of seizures and very harsh medications followed. We spent her first year of life in and out of the hospital, trying and failing medications. She became seizure free at 11 months old. As Kendall aged, she remained seizure free, but her global development fell further behind the norm with each passing “milestone.” In our desperate search for answers, we visited dozens of doctors in multiple states and had countless tests conducted, including many specific genetic tests. Each time, no matter the test, the findings were “normal.” I can’t describe the heartbreak and frustration of those 6 years. In mid-2016, Kendall’s team at Children’s Hospital of Pittsburgh of UPMC ordered exome sequencing. In August 2016, the results were in. When we got the call that “something” was found, the relief we felt was indescribable. We met with the genetics team, and we were given the STXBP1 diagnosis. Little information was known. What we did know was that this mutation was not inherited and that it is very rare. We were told that the known symptoms are intractable epilepsy and profound intellectual disability.
Since meeting families from around the world whose children also have this diagnosis, we have never felt so “normal”! All of Kendall’s quirks and seemingly unique (and sometimes very frustrating) behaviors are shared among these individuals, and the parents “get it.” We have finally met other parents who get it! Raising a special needs child is isolating. Raising a rare child is isolating. Because of genetic research, we no longer feel this isolation so strongly. We don’t know what the future holds, but we know it’s going to be challenging. We’re thankful to now know that we’re not in this alone. We have a diagnosis. We have new friends to help us through. We have passionate researchers dedicated to understanding these rare kids and adults. We are blessed to be the parents of this beautiful child. West Virginia, USA
My daughter Angela nicknamed Angie Pangie, is the light of my life! We found out she had a deletion of STXBP1 and several other genes in 2011, when she was 18 years old. A couple of years ago, I joined the Parents of Kids with STXBP1 Facebook Group, and met an incredible group of people whom I respect and admire greatly. I am hopeful the research in STXBP1 will uncover treatments that could help improve the lives of Angela and others like her.
Someone once described Angela as having “a gentle and harmonious presence” and I thought it fit her very well. Although she is non-verbal and non-mobile, Angela communicates her likes and dislikes very well with her eyes and gestures.
She is very much in tune with my emotions, and I with hers. I have experienced the deepest depths of despair when she has been sick and when she is happy, my heart soars to the highest clouds! Definitely, she has made me a better and stronger person than I would have been. I am very glad, after all these years, to have an STXBP1 family of other parents and kids to share our journeys together. Florida, USA
He stole my heart from our first snuggle. I can’t imagine feeling more love for another human being. Things aren’t easy but I realize I trust him and I believe in him so I fight for him so that he can be the absolute best version of who he is supposed to be. If I truly think back, I knew there was a problem while I was pregnant. Mitchell stayed in mostly one spot for my entire pregnancy. When he failed to meet milestones he was diagnosed with Spastic Quadriparesis Cerebral Palsy at 12 months old but we knew there was a genetic piece to this puzzle. After over a year of staring spells I could no longer be talked out of my belief he was seizing and he received his EEG. My darkest fears came to fruition when it was revealed that he was seizing constantly. Through the course of a lengthy hospitalization we conducted an epilepsy panel that revealed our smoking gun STXBP-1 EIEE.
This is a painful, exciting journey and my little angel has made me grow in ways I never imagined. I am so happy to have found our STXBP-1 community and I know we will do so much. Pennsylvania, USA
Our angel is the sweetest, happiest little girl who brings great joy to everyone that meets her. Katelyn has a fraternal twin sister;so, we always had a built-in control to notice any development issues. At 6-7 months old when her sister, Allie, was crawling and pulling up onto the sofa, Katie would only rollover and insist on just staying on her back. We intervened with PT and at one session when Katie was 13 months old she had an “episode” that the doctors had previously suggested to us was simply a gastro issue.
The PT advised us that this was neurological and we immediate got in to UCSF for studies. Katie was diagnosed with a partial complex seizure disorder and we worked hard over the next few years to manage the seizures with various meds like Keppra, Lamictal, and Banzel. All along we were searching for the cause of her seizures, ataxia, and severe developmental delays. We went to the Mayo Clinic, CHoP, Rutgers, and Stanford over the years. In 2012, we did one of the first full genome mapping with the Genetics department at Stanford and we found the dropout of STXBP1. Following updates on genetic disorders led our family to the Parents of Kids with STXBP1 and we promptly joined in. California, USA
That moment you become a parent, the whole world looks different and that child is the most important thing in your life, but nothing can ever prepare you for a medical condition that shows up in what you feel like is out of nowhere. Benjamin is a happy little boy, even before his STX/IS diagnosis he was always so calm spirited and easy to please, and still is. After his seizures started at the age of 4 1/2 months, our world was turned upside down. We knew nothing about epilepsy, let alone why all this was happening. After several weeks and several medications, his seizures were controlled. We got his genetic diagnosis of STXBP1 at 10 months old, which at least gave us some insight. Although there is still a lot to learn about it, we take it day by day and keep him moving forward with his weekly EI therapies. We are so proud of him. With the help of our amazing doctors and a STXBP1 family community, it makes it a little lighter to know we have support of those that are in similar shoes. We hope that after more research is done, we can help not only our own children, but those with future diagnoses. Pennsylvania, USA
Lukas is our 6 year old son. He is charming and cute and he knows it. There is no better thing than a hug and a kiss from him. Lukas illustrates the diversity of STXBP1 conditions. Lukas was a normal healthy little boy until his first birthday. His first seizure was at 13 months. By his 2nd birthday he had profound regression, losing many of the skills he had gained till then. The neurology team at our children’s hospital conveyed to us the Lukas had an epileptic encephalopathy (an electrical brain storm). We waited another year to find out that STXBP1 was the culprit. Although it confirmed that Lukas had a severe condition, it also provided an answer, hope and a target for a treatment. Importantly, it also connected us to a community of families that we could share our experiences with and band together to advocate for our children. Toronto, Canada
When Holly was not even 2 days old, she had her first seizure and was transferred to the NICU at a nearby children’s hospital where she stayed and was tested for two weeks. She left the NICU with clinical diagnosis of Benign Neonatal Seizures; we were told she would grow out of her seizures and have a normal life. Blood work was taken during a hospitalization a few weeks later disproved this diagnosis. Holly’s first 3 months were rough with hundreds of clonic tonic seizures, but after 3 months they stopped. Besides a febrile seizure with croup at 8 months old, Holly had no more seizures until she was a year old. For her first year of life Holly’s low tone and delays were being blamed on phenobarital (a seizure medication). Holly’s seizures returned during a Phenobarbital wean, it took convincing she was having seizures, we were told we were seeing acid reflux episodes. Eventually, an increase in Keppra stopped the seizures for about another year. When she was completely weaned off of the phenobarb, and still had significant delays, she had a brain MRI which showed no damage. Inspite of the clean MRI, Holly’s orthopedic doctor diagnosed her with diplegic cerebral palsy. At 2 years old Holly’s seizures returned and have never fully been controlled since then. Shortly before turning two, her neurologist ordered a comprehensive epilepsy panel which looked at over 350 genetic diseases related to epilepsy. That test revealed the true cause of her symptoms, a de novo STXBP1 gene mutation. Her diagnosis came with mixed emotions. However, we are fortunate to know the root of her symptoms at such a young age. The greatest part of it is having a small community of parents and families to share with, it is priceless gift!
Holly is our gemstone. She is rare and beautiful. She is so tough and gracefully handless all of the obstacles that comes with her disease. She has taught me and everyone who knows her so much. She works hard to try to be mobile, and has had a lot of success with Conductive Education. Her motor planning is a big setback, but she is determined to work through it. She started writing her name with a little bit of assistance at her wrist when she was less that 3 years old. Holly is an extraordinary little girl, and we are proud to be her parents. New Jersey, USA
On August 26th, 2008, I walked into labor and delivery, calm as could be and so excited to meet my third child. I had dreamed of the moment I would look into my little girl’s eyes and feel a connection unique to the one I shared with my 2 sons. Her birth was perfect and everything I hoped it would be. She had Apgar scores of 9 and 9. She didn’t get a perfect score only because she didn’t cry. Instead, she looked at me and around the room in wonder at this new world she was seeing. She latched on and nursed until she fell asleep. It was a cherished, albeit brief moment of bliss.
As family and her brothers came in to meet her, she jerked hard in my arms and started crying. It took a good 15 minutes to calm her and a knot began to form in my stomach. Something wasn’t right, but I couldn’t accept it yet. I just needed to be able to enjoy her. Over the next day while we were in the hospital, she started sleeping more, waking and feeding less, and having more of the strange jerking episodes. The pedatrician saw one while examining her and assured me it was nothing. I wanted so badly to believe her so I took my Emma Rose home. Emma -Read More Ohio, USA
Frederik is 6 years old and has brought an equal amount of joy, sorrow and fear into our lives. However, mostly joy as he is a very gentle, calm, loving and affectionate little boy. Our lives took a very serious turn, when Frederik started having seizures, when he was 6 weeks old and and even worse, when we were told on his 1/2 year “birthday” that he had a STXBP1 deletion – that he was the first to be diagnosed in Denmark with this particular deletion and that at the time there were only 8 other kids in the world with the same diagnosis.
Frederik has had seizures all his life – he has tried all anti-epileptic drugs under the sun, has been on the ketogenic diet for 2 years with no success and has been through VNS-surgery 3 years ago. My husband and I have joined the STXBP1 Facebook Group, which is extremely helpfull on a personal and professional level. All these amazing and brave children, who are supported by their equally amazing an brave parents, makes me very proud. We all experience similar challenges and fears – and this makes this Facebook Group very special. My hope is that a lot of more research will be done in order to be able to help our children in the best way possible. Klampenborg, Denmark
Evelyn is the happiest (and cutest!) four year old you will ever meet. We noticed her first seizure at eight weeks old, which involved blinking, head nodding and staring. Over the next eight weeks in hospital she would be tried on seven different anticonvulsants and eventually the ketogenic diet. None of these were effective in controlling her seizures, which had progressed to infantile spasms by that point. After many EEGs, several lumbar punctures, an initial diagnosis of Glut 1 disorder and over a thousand seizures, we still didn’t know what was wrong.
One magical morning at nearly six months old we realized it was nearly lunchtime and we had not seen a seizure. It took 18 months for our epilepsy genetic panel to come back through a research project in Melbourne, and she was diagnosed with a frameshift mutation on the STXBP1 gene. Currently Evelyn is still seizure and medication free and we hope and pray that this continues.
Her development has been slow but she is now running and learning to climb the stairs. The day she took her first steps was absolutely amazing and we are so grateful for every new skill she learns. She also uses an iPad to communicate with us and she is improving every day. Her current favourite is saying ‘goodnight’ and ‘I love you’ before bedtime. She is and she has taught us so much about love, life, perseverance, strength and joy. Brisbane, Australia
Harriet is now 14. Within a week of being born she was having multiple seizures and she was back in hospital, where we received a diagnosis of ‘Idiopathic neonatal epileptic encephalopathy’ – STXBP1 hadn’t been discovered back then. With hindsight, I think Harriet had a few seizures before birth too.
Her seizures were quickly controlled, but only for three or four months. Then started the worst 12 months of my life – multiple seizure types, including infantile spasms, lots of different, changing medications, and a bleak prognosis. But, despite her label of ‘global developmental delay’, Harriet started to progress. Painfully slowly, but progress of any sort gives hope. She started to walk at age four or five, and is still mobile. She’s achieved things I never dared dream she would – she can run, bounce on a trampoline, and ride a pony. She loves swimming, canoeing and riding on our tandem (although I’m the one who does all the work!) She’s not as keen on climbing walls and caving.
Harriet’s diagnosis came when she was ten – after numerous other possibilities had been ruled out. Having the diagnosis, for me, was important, even though it’s unlikely to alter the course of Harriet’s life. It’s allowed me to meet other families who are experiencing the same challenges, and I’ve found that a great support over the last few years. Harriet’s first trip in a plane was to fly to the south of France to meet up with several STXBP1 families at a conference! Harriet is a very happy, smiling, very sociable young lady who lives in the present moment. She doesn’t dwell on the past and she doesn’t worry about the future. She loves her family and friends. She loves life.