Hope for Mary
Your donations are urgently needed for Bridge the Gap to help us find better treatments and a cure for our daughter. Rare Disease Day this year is February 29, 2020.
Mary just turned three years old. She has the biggest, most genuine smile. She loves playing in the water, listening to music and her favorite books. She is so beautiful and precious.
Around 9 months old, we noticed that she was not developing like she should. She would learn a sign or a word, like "milk" or "deeyah" for Daddy, but then would forget it. She would not eat food and would not crawl. Then, as she got older, she developed seizures.
We saw a lot of doctors and specialists to figure out what was wrong, and about one year ago, we received the results from her genetic testing that she has a SYNGAP1 genetic variation. Most people have never heard of it. None of her doctors at the time had ever heard of it. We actually had to educate many of them on the disorder. As far as we know, there are only a few hundred people in the world diagnosed with it. Because of her SYNGAP1 mutation, she has more than 100 brief seizures per day, intellectual disability, sensory processing disorder, and she is still non-verbal.
The SYNGAP1 gene has instructions to create the SYNGAP1 protein which is responsible for the communication between neurons in your brain. Think about it like this: Mary may have as many as 100 billion neurons in her brain. Each one of those neurons can connect to up to 10,000 other neurons. Every one of those connections doesn’t work right in Mary’s brain because of the SYNGAP1 mutation.
The SYNGAP1 gene was discovered in 2009. Even though there are only a few hundred diagnosed cases of SYNGAP, researchers think as many as 1 out of 100 cases of intellectual disability are caused by this disorder.
Mary, and kids like her, need your help. We hope for better treatments and a cure. These kids are really suffering. Hundreds of seizures per day, intellectual disability, issues communicating, behavioral issues, and autism. It’s no way for anyone to live. We believe that we can find a cure and treatments for our kids. We know that Bridge the Gap can help!
Bridge the Gap - SYNGAP Education and Research Foundation provides specialized programs and services that help support families like ours and the entire SYNGAP1 community.
Awareness - Raising SYNGAP1 awareness globally.
Advocacy - Advocating for policies and programs that benefit
SYNGAP1 patients and families.
Research - Raising funding to accelerate SYNGAP1 research.
Family Meet Ups and Scientific Conferences - Providing
opportunities for families, clinicians, researchers and other
SYNGAP1 community stakeholders to meet, share information
and collaborate.
SYNGAP1 Centers of Excellence - Partnering with medical and
academic institutions to launch multi-specialty SYNGAP1 clinics,
where patients can receive comprehensive healthcare, provided by
the world's leading SYNGAP1 experts.
SYNGAP1 (MRD5) Natural History Registry - Launched in 2015,
in collaboration with the National Association of Rare Disorders
(NORD) and the FDA, the registry is maintained by Bridge the Gap -
ERF. Data from the registry is being utilized by clinicians and
researchers to aid in the understanding of SYNGAP1 prevalence,
symptoms, biomarkers and development of research trial design.
Please, be our Hero by today! Your generous donation will help support our family, and families like ours, find better treatments and a cure for SYNGAP1.
Action = Impact
Remember, every single donation brings us one step closer to a better life for those affected by SYNGAP1!
Thank you in advance for your contribution to this cause that means so very much to us.
Mary just turned three years old. She has the biggest, most genuine smile. She loves playing in the water, listening to music and her favorite books. She is so beautiful and precious.
Around 9 months old, we noticed that she was not developing like she should. She would learn a sign or a word, like "milk" or "deeyah" for Daddy, but then would forget it. She would not eat food and would not crawl. Then, as she got older, she developed seizures.
We saw a lot of doctors and specialists to figure out what was wrong, and about one year ago, we received the results from her genetic testing that she has a SYNGAP1 genetic variation. Most people have never heard of it. None of her doctors at the time had ever heard of it. We actually had to educate many of them on the disorder. As far as we know, there are only a few hundred people in the world diagnosed with it. Because of her SYNGAP1 mutation, she has more than 100 brief seizures per day, intellectual disability, sensory processing disorder, and she is still non-verbal.
The SYNGAP1 gene has instructions to create the SYNGAP1 protein which is responsible for the communication between neurons in your brain. Think about it like this: Mary may have as many as 100 billion neurons in her brain. Each one of those neurons can connect to up to 10,000 other neurons. Every one of those connections doesn’t work right in Mary’s brain because of the SYNGAP1 mutation.
The SYNGAP1 gene was discovered in 2009. Even though there are only a few hundred diagnosed cases of SYNGAP, researchers think as many as 1 out of 100 cases of intellectual disability are caused by this disorder.
Mary, and kids like her, need your help. We hope for better treatments and a cure. These kids are really suffering. Hundreds of seizures per day, intellectual disability, issues communicating, behavioral issues, and autism. It’s no way for anyone to live. We believe that we can find a cure and treatments for our kids. We know that Bridge the Gap can help!
Bridge the Gap - SYNGAP Education and Research Foundation provides specialized programs and services that help support families like ours and the entire SYNGAP1 community.
Awareness - Raising SYNGAP1 awareness globally.
Advocacy - Advocating for policies and programs that benefit
SYNGAP1 patients and families.
Research - Raising funding to accelerate SYNGAP1 research.
Family Meet Ups and Scientific Conferences - Providing
opportunities for families, clinicians, researchers and other
SYNGAP1 community stakeholders to meet, share information
and collaborate.
SYNGAP1 Centers of Excellence - Partnering with medical and
academic institutions to launch multi-specialty SYNGAP1 clinics,
where patients can receive comprehensive healthcare, provided by
the world's leading SYNGAP1 experts.
SYNGAP1 (MRD5) Natural History Registry - Launched in 2015,
in collaboration with the National Association of Rare Disorders
(NORD) and the FDA, the registry is maintained by Bridge the Gap -
ERF. Data from the registry is being utilized by clinicians and
researchers to aid in the understanding of SYNGAP1 prevalence,
symptoms, biomarkers and development of research trial design.
Please, be our Hero by today! Your generous donation will help support our family, and families like ours, find better treatments and a cure for SYNGAP1.
Action = Impact
Remember, every single donation brings us one step closer to a better life for those affected by SYNGAP1!
Thank you in advance for your contribution to this cause that means so very much to us.
Organizer
Andrew Blumhardt
Organizer
La Plata, MD
Bridge the Gap - SYNGAP Education and Research Foundation
Beneficiary