Join us in person on November 24th, 2024 at the St. Bernard State Park from 12pm till...
Welcome to the TEAM BELLA campaign for STXBP1 DISORDERS. Unfortunately, for those affected by STXBP1 disorders like Bella, there is no cure and we need your help and support!
What STXBP1 Disorder is?
The STXBP1 gene is located on chromosome 9 and it plays a vital role in the brain cells ability to communicate with each other. A disruption or the absence of this gene results in abnormal brain function leading to seizures, development delay, movement disorders, learning difficulties, behavior problems, etc. In most situations this DNA malfunction of the stxbp1 gene occurs randomly (de novo). There are approximately 1200 people affected by Stxbp1 Disorder worldwide. When Bella was diagnosed in 2018, she was one of 200 diagnosed worldwide and now in just 6 short years, we have an estimated 1200 people diagnosed worldwide. Its amazing progress!! The STXBP1 Foundation has been working hard to raise awareness and bring the medical community together for the future of kiddos. Please join us and help Shine A Light On Stxbp1!!
How STXBP1 has affected BELLA
Bella started seizing at 4 days old and was hospitalized for the first 4 weeks of her life. Thankfully her seizures became under control during that initial hospital stay and we had been seizure free until April of 2022. Bella received her STXBP1 diagnosis when she was 2 months old, her STXBP1 gene is missing a portion of the gene itself affecting its ability to produce a vital protein needed for brain cells communication. That was when we found out what we could be facing even though there wasn't much information out there go on at that time. Bella did miss every one of her milestones. She sat up at 1 yr, crawled and starting chewing foods at 2 yrs, pulled to stand at 3 yrs. She started walking unassisted in May of 2022 at the age of 4. And now at 6 years of age, she's running, hopping, climbing, and skipping everywhere she goes. She doesn't talk but don't let that fool you. She is very vocal and definitely has lots to say. She knows exactly what she wants to say and will definitely figure out a way to tell you. She does know how to sign Yes, More, Hi, and Bye and express herself through the use of AAC tablet. She is one determined happy little girl who will no doubt excel in anything she puts her mind too.
Thank you in advance for your generous donation to the STXBP1 Foundation, we are thrilled to have you join TEAM BELLA. Your donation and participation means the world to us and the entire STXBP1 community! Donations directly fund critical research for treatments, therapies, and a cure for STXBP1 disorders.
Buy custom team shirts here: https://www.bonfire.com/stxbp1-disorders-team-bella-2/
