Our Story

OUR STORY - it all began with Tony....

When our twins Rocco and Tony where born we were elated, but within hours things started going horribly wrong with Tony. First it was his heart, then began numerous problems with his brain, his vision, his development and so many medical issues…. He lived in and out of the hospital for the first 4 years of his life where he had many surgeries (2 included open heart). As a baby, he could not eat, swallow, walk or talk like his twin brother, and we watched him fall further and further behind developmentally. As he grew older he was diagnosed with profound intellectual delays, level 3 autism, severe apraxia of speech, non-verbal, seizures, strokes and brain degeneration, and the list goes on and on. For 6 long years full of hundreds of labs, genetic, and diagnosis testing, no one could tell us what was wrong with our son. That is because he was born in 2008 and it wasn't discovered until 2014.

In May of 2014, we were given the news that our son was the 1st child ever in the US, 11th in the world, diagnosed with a genetic mutation on a master brain gene called the Activity Dependent Neuroprotective Protein (ADNP). It was not hereditary, it was a spontaneous mutation on one of the worst genes to have a problem with, only in Tony’s DNA. Read about the crazy odds of that happening at How My Son Won the Mega Millions Lottery Jackpot of Rare Genetic Disorders. Tony is still the only known person in the world with his specific mutation.

This condition was so RARE and unknown that this was essentially the information we were given, it had:

ONE medical publication existed, that was it!
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.
NO WAS NOT AN OPTION!

This devastating diagnosis left us feeling HELPLESS because we were all ALONE. We had no information, we were SCARED and HEARTBROKEN. We were left to grieve the life we thought our son and our family would have and we where told that he would most likely not live to become an adult.

Our son was diagnosed with this INCURABLE disorder and there was nothing to help him because nothing existed. Like I said, this was not an option and grief quickly turned into determination to find a way to help him. If no one in the world was trying to cure my sons rare disease, then I was going to fight like a mother to help my son and get someone working on it - ASAP.

HELPLESS turned into hopeful (which was a much better feeling).
ALONE turned into connecting with families.
SCARED turning into knowledge by researching and learning about ADNP.
HEARTBROKEN turned into determination to find the best scientists in the world to work on ADNP.
INCURABLE turned a mindset that we will find a cure.
NOT AN OPTION turned me into one part Erin Brockovich (aka Google educated parent scientist) and one part Honey Badger (aka scary relentless 24/7 ADNP attach dog) determined not to stop until I find an option because ‘no option’ was not acceptable.

In 2015, I created the International ADNP Syndrome Parent Support Group and ADNPkids.com, so that no family would ever feel alone after receiving an ADNP diagnosis like we did. Now they have a place to connect with other families from all around the world, all who want to learn more, want to support each other, and want to help their child live their best life possible.

Also in 2015 I dove head first into research and became what I called a "crazy obsessed, middle of the night, internet stalking, ADNP mommy detective". I started doing my own studies and research projects because nothing existed at the time that was meaningful and informative for families. My walls turned into spreadsheets of symptoms and grafts and I started developing our informational website.

I quickly identified that our children shared much more medically complex conditions than currently known. I began to collaborate and co-publish papers 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, 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 100% volunteer run organization with no employees.

We are leading the worlds efforts to accelerate research together, because together we believe we can help our children faster, and 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, which importantly is not seen in any other known syndrome in the world, making it unique to ADNP.
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 and have a 6th with Mount Sinai Seaver Autism Center in peer review.
The most important research accomplishment has been, after receiving information through artificial intelligent from a fellow rare disease parent, myself and another father of a child with ADNP Syndrome - researched and hypothesized a viable treatment and I presented to Mount Sinai our 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 at the Mount Sinai Seaver Autism Center.

Below are photos of my son Tony from 2008 (birth year) to 2020. It shows the common facial features as well as the medical complexities over his lifespan.