Camden's STXBP1 Cure
Tax deductible
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
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
Organizer
Heather Jones
Organizer
Apex, NC
STXBP1 Foundation (STXBP1 Disorders)
Registered nonprofit
Donations are typically 100% tax deductible in the US.
