#cureADNP for Keira - 126th Boston Marathon 2022
Tax deductible
Story:
As some of you may recall, a few years ago in 2019 I ran the NYC Marathon on behalf of Boston’s Children’s Hospital (BCH) and their Miles for Miracles Team. It was my first marathon and a great experience. During that time, I met my patient partner Drystan, who is an amazing, happy, and energetic young man (now in high school). He is healthy and very thankful for the phenomenal treatment he receives at Boston Children’s Hospital. It was during this time of meeting him and his family that I began to truly understand and support the enthusiasm they had for raising money for BCH, the cause it was going to, and families it impacts. It was a truly remarkable experience.
Shortly after this time, I set out on a personal goal to qualify for the Boston Marathon and raise money for a cause that is even closer to home. It doesn’t get any closer to home than my next-door neighbors, and their amazing daughter Keira. Keira is 13 and was one of the first children diagnosed with a rare genetic condition called ADNP Syndrome several years ago. She is kind, cheerful, funny, and always loves coming over into our driveway for quick hugs/snuggles and giving treats to our dog Kobe!
- I qualified and have recently been accepted to run the 126th Boston Marathon, scheduled to take place on Monday, April 18, 2022
- I am even more excited that I can use this as an opportunity to raise awareness, help the ADNP Kids Research Foundation, and raise money that will make such a meaningful impact to the amazing research, drug trials, and get treatment to market as fast as possible.
ADNP information you should know:
- ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene.
- This important brain gene affects brain formation, connectivity, plasticity, development, and function. In addition to the brain, it also affects many other organs and systems of the body and children can have a multitude of medical problems within the cardiovascular, endocrine, immune, musculoskeletal, gastrointestinal, and excretory systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, it can cause mild to severe delays in intelligence, speech, and global motor planning.
- ADNP dysfunction has been linked to various other conditions like autism, Alzheimer’s, Parkinson’s, and schizophrenia, suggesting that therapy development may be transferable to more common disorders.
- Recent studies have placed the ADNP gene as a top single gene cause of autism spectrum disorder (ASD) and accounts for approximately 0.2% of all cases of ASD. Ranked one of the top single gene causes of autism per the National Institute of Health (NIH).
- It is also the only known protein significantly decreasing in the serum of Alzheimer’s disease (AD).
Shout out to ADNP Parents and Families!
I want to personally give a shout out to the Parents and Families of ADNP children, as they have truly led the way by conducting countless hours of research to better understand the ADNP gene, raising awareness, participating in research studies, generating scientific interest, partnering with highly acclaimed research institutions, and working to drive drug trials.
In just a few years ADNP Parents and Families have:
- Partnered with Mount Sinai Seaver Center for Autism Treatment and Research
- Discovered and led drug trials
- Secured Intellectual Property (IP’s), fully funded and pushed the 1st ever drug trial for ADNP syndrome in record speed
Because ADNP is an ultra-rare brain disease, affecting less than 400 children worldwide, there is no government funding or grants available and no drug companies interested in investing millions of dollars for such a small patient population. Because of this, the ADNP Kids Research Foundation has funded and pushed forward research and drug development with only the support from family and donors. Very aspirational work!
Call to action:
The identified treatment for ADNP is in the application stage of a Phase 3 trial after a successful Phase 2a trial that showed promising results and can truly use the donations to push to market and help current and future children with ADNP, not to mention this trial may prove and be used to treat 0.2% of Autism cases.
Think of how many children this can impact positively…
Every small Act or amount helps, so please donate, share, post, or comment, and use the #cureADNP to raise awareness!
Your Support will give hope to kids from around the corner and across the globe!
A donation is tax-deductible, safe & secure, and ALL PROCEEDS go to help ADNP kids.
Thanks in advance,
Tim
Fundraising team (2)
Tim Larson
Organizer
North Kingstown, RI
ADNP Kids Research Foundation
Registered nonprofit
Donations are typically 100% tax deductible in the US.
Sandra Sermone
Team member
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