​OUR STORY​

In May of 2014, we were given the devastating news that our son Tony was diagnosed with a mutation on a master brain gene called ADNP.  Tony was the 1st child diagnosed in the US and 11th in the world.  Read about the crazy odds of that happening at How My Son Won the Mega Millions Lottery Jackpot of Rare Genetic Disorders.

At that time, only one single medical publication existed on 10 children in Europe.  There was NO research or patient organization, it had NO name, NO doctors or specialists who understood it, NO place to find support or connect with other families, NO informational websites, NO medical protocols, NO treatments and worst of all, NO CURE.   

This condition was so rare and so unknown that all we could feel at first was scared all alone with zero information to help our child. with this incurable disorder  As a mother, I could not fail my son any longer, I needed to find a way to help him and help families who followed so they where never left feeling hopeless and alone like we were.

It is because of that feeling that I created ADNPkids.com and the International ADNP Syndrome Parent Support Group, so that no other family would ever feel alone after receiving an ADNP diagnosis,  Instead, they would have a place to connect with other families and find information and support.  

During that time I also began my own parent reported patient research project since nothing existed,  and I identified that our children shared much more medically complex conditions than currently known. I began to collaborate with medical researchers around the world.
ADNP KIDS RESEARCH FOUNDATION IS BORN​
In 2016 there was still very little known about ADNP Syndrome and there was no collaborative research effort underway in the US, so I founded the ADNP Kids Research Foundation to accelerate and lead the global research efforts needed to find treatments and a cure for ADNP syndrome.

ADNP Kids Research Foundation supports a global community of families and growing team of researchers, dedicated to finding treatments and a cure for all children and adults with ADNP syndrome.   

We are motivated by the HOPE of incredible breakthroughs in the future of science and the belief that parents can move mountains to allow our children with ADNP syndrome to have a better quality of life.

We are a small grassroots organization ran by parents and fueled by the love of our children.  We are connected by this devastating rare disease and we are leading efforts to accelerate research together, because together we believe we can help our children find treatments and a cure!  
​MY PERSONAL RESEARCH WORK INCLUDES:
  • In early 2015 I discovered the first biomarker for ADNP Syndrome; children have rapid "premature tooth eruption" which is an early diagnostic biomarker in ADNP syndrome, and is not seen in any other known syndrome in the world. 
  • To date, I have co-author 5 ADNP specific medical publications with researchers from Tel Aviv University, Cognitive Genetics-University of Antwerp and University of Washington TIGER/Bernier Lab. 
  • The most important research accomplishment has been, together with another father of a child with ADNP Syndrome, we researched, hypothesized and presented to Mount Sinai an idea of a repurposed drug called low dose ketamine which we believed could be therapeutic for our children.  They agreed that this looked promising, and this has resulted in the 1st ever drug trial for ADNP syndrome with in an FDA Phase 1/2 trial at the Seaver Autism Center at Mount Sinai  which began in the fall of 2020.

BELIEVE
THERE IS
HOPE FOR A CURE!

Sandra Sermone
Founder/President
ADNP Kids Research Foundation
BIO under Board of Directors

Below are photos of my son Tony from 2008 (birth year) to present.   It shows the common facial features as well as the medical complexities over his lifespan.
Some of my articles, news stories and publications:
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All rights reserved. No portion of the content of this website may be reproduced in any manner without the written permission of the author/creator.   Any information used from this website must also have credit noted to ADNP Kids Research Foundation / www.adnpfoundation.org. The information on this website is not substitute for personal diagnosis or medical care advise. Families and patients should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on ADNP changes is a very fast-moving field and while the information in this guide is believed to be the best available at the time of publication, some facts may later be updated or change. Please see additional disclosures on our PRIVACY POLICY page.