​OUR STORY, it all began with Tony....​

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 only months after it was discovered and published.  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.  This condition was so rare and unknown that it had NO name,  NO research or patient organization, NO doctors or specialists who understood it, NO place to find support or connect with other families, NO informational websites, NO medical or therapy protocols, NO treatments, and worst of all, NO CURE.   

I felt HELPLESS because we were all ALONE.  I was SCARED and HEARTBROKEN.   We were left to grief the life we thought our child would have, and had to come the realization that he would never live a normal life.  We were given no options to help our son with this INCURABLE DISORDER.   Tony  lived in and out of the hospital for the first 4 years of life, where he had many surgeries and procedures, 2 included open heart, where he earned his nickname "Superman" because he would endure these painful surgeries, was poked with needles daily, and he would do it all with a smile on his face like he felt no pain, he was the man/boy of steel!  Tony was profoundly affected and it took 6 years to find a diagnosis.  As a baby, he could not eat or swallow, he could not walk or talk like his twin brother.  He fell further and further behind developmentally.  By the time he was diagnosed. he had profound intellectual delays, level 3 autism, severe apraxia of speech, seizures and brain degeneration, and the list goes on and on.  We were told that there would NEVER be a treatment for a this type of brain disorder; and if there was, it would never come in his lifetime - THIS WAS NOT ACCEPTABLE TO ME.  I realized that I had to find a way to save my son, and if I couldn't help him, maybe I could help another family not live this hell of watching their child suffer their entire life, so that is what I set out to do. 

Helpless turned into hopeful, which was a much better feeling. 
Alone turned into finding families and hunting down the best scientists in the world to work on ADNP.
Scared turning into relentlessly working to learn about and understand ADNP 60-70 hours a week to accelerate research and awareness forward as fast as possible. 
Heartbroken turned into focusing all my energy day and night into finding a treatment for ADNP. 
Incurable turned into a plan to one day cure this disease.
NOT ACCPETABLE TO ME turned me into one part Erin Brockovich (aka parent scientist) and one part Honey Badger (aka relentless 24/7 attach on ADNP).
​By 2015, I decided to create the International ADNP Syndrome Parent Support Group, and ADNPkids.com so that no  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.  And those families that I found, they wanted to help, to share information and to find ways to help all of our children.  We became what we call, our ADNP Tribe..

I dove head first into research and started doing my own studies and projects, and 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 and that is when I decided to create the ADNP Kids Research Foundation.

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 as families are leading efforts to accelerate research together, because together we believe we can help our children find treatments.

Now with these amazing families, we are not stopping until we find a cure!
​​MY PERSONAL RESEARCH ACCOMPLISHMENTS INCLUDE:
  • 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 FDA drug trial for ADNP syndrome 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.