The Lottery, MegaMillions, Powerball! Everyone dreams of hitting that enormous mega jackpot! Admit it, we have all thought about the wonderful things we could do with the winnings and dream about how our lives would change.
Look at this picture (picture attached to submission titled Tony 001) and all you can see is pure joy, you would think we won the lottery! This adorable little boy looks like the happiest kid in the world because he is on his all-time favorite Dumbo ride! But what you can’t see are his brain abnormalities, heart defects, severe neuro-developmental delays, autism or the dozens of other medical conditions that he suffers with each day.
Our dreams were crushed when one of our twin boys named Tony won the equivalent of what we call the “bad-luck genetic lottery”. He didn’t just win; he hit the Mega Millions Jackpot!
In 2014, after 6 years of hospitals, specialists, surgeries, tests and procedures, we were told that out of the 6 billion people who walk our planet, our son was the only known human being in the world with this specific genetic change causing a condition that has NO treatment and NO cure; the bad luck jackpot.
Sounds like some crazy odds, so let me explain.
We all have 23 pairs of chromosomes. In those chromosomes are approximately 20,000 human protein-coding genes and those genes contain thousands of letters which write the coding in our DNA. Located on chromosome 20 in one of those protein-coding genes called ADNP, the 1046th letter should be a T and the 1047th letter should be a G. My son is missing a “T” and a “G”, two measly letters in one teeny tiny gene and this has caused a horrific debilitating rare genetic disorder called ADNP Syndrome.
But he is not the only one out there. There are approximately 150 children in the world who also have some sort of mutation, slightly different from his, on their ADNP gene. They also have won the genetic lottery and now share the same condition as Tony called ADNP Syndrome.
ADNP Syndrome is a rare neurodevelopmental genetic disorder caused by a mutation in the ADNP gene. The gene affects brain formation and development, as well as brain function. It can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Characteristics in children are a happy demeanor, frequent smiling and laughing, and that they really love to be around adults. A unique biomarker is early baby teeth eruption and most children with ADNP syndrome had a full mouth of teeth by their 1st birthday. Individuals can have mild to severe delays in intelligence, speech and motor planning (including gross, fine and oral motor) and it causes behavior disorders such as Autism Spectrum Disorders and is one of the most frequent ASD-associated genes known to date.
Tony is an adorable 10 year old little boy who has the most incredible smile, an infectious laugh and the sole of a warrior! On the outside, Tony looks like a normal child but Tony has many debilitating medical conditions such as brain abnormalities, several heart defects, cortical vision impairment, severe cognitive and developmental delays, regression, feeding difficulties, sleep disorders, seizures, cerebral atrophy, and he is non-verbal and has autism. He has had dozens of surgeries and procedures, including two open heart surgeries and sees a massive team of doctors, specialists and therapists on a regular basis. Tony needs assistance 24/7 to help him with all aspects of his personal care, including feeding and diapers. These are just “some” of the health problems that will affect him for the rest of his life.
According to the rare disease advocacy group Global Genes, 30 MILLION AMERICANS have a rare disease or disorder. 50% of those are children, 80% are genetic in origin and 95% of rare diseases have not one single FDA approved drug treatment. My son falls into all of those categories.
Tony is one the 30 million American’s and today is the day that we recognize him and everyone living with a rare disease. TODAY IS RARE DISEASE DAY!
The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. So as a parent of a child with a rare disease, and on behalf of the 30 million other Americans with a rare disease, please remember that we are out there. Please remember that we have small non-profit foundations and are trying to fund research to save our children and that we need your help, that we need to have our voices heard from our homes all the way to Capitol Hill and that this is not just one little boy, its 30 million Americans, many who have also won the genetic bad-luck lottery.
Alone my child is RARE, but together with the RARE community we are STRONG. I hope that those reading this will join us today as we recognize World Rare Disease Day and stand strong together with the hope of help, healing and change.
To learn more about ADNP Syndrome please visit www.ADNPkids.com and to learn more about Tony visit www.ADNPkids.com/Tony