IN HONOR OF RARE DISEASE DAY:

IN HONOR OF RARE DISEASE DAY:
How my 10 year old son won the genetic lottery jackpot of rare disease

Everyone wants to hit the Lottery!  We dream of winning that enormous mega millions jackpot!  We all have thought about the wonderful things we could do with the winnings and dream about how our lives would change.

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!

Look at this picture and all you can see is pure joy.  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 and heart defects, severe neuro-developmental delays.  You can't tell that behind that beautiful smile he is non-verbal and has autism.  You can't see all of the surgery scars or dozens other medical conditions that he suffers with each day.

In 2014, after 6 years of hospitals, specialists, surgeries, tests and procedures, we finally received a genetic diagnosis for our son.  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 doesn't it?  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 of our DNA.  Located on one of those chromosomes, (chromosome 20 to be exact), is a protein-coding gene called ADNP.  Inside that one gene, the 1046th letter should be a T and the 1047th letter should be a G.  Tony 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.  And to take these odds over the top, this genetic mutation is NOT hereditary.  Meaning, neither his father or myself carry this genetic mutation, and this is why his twin brother is not affected.  Like I said, Tony hit the genetic-jackpot, what are the odds?

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.  He has the most incredible smile, an infectious laugh and the sole of a warrior!   In addition to his brain and heart abnormalities, he has cortical vision impairment, severe cognitive and developmental delays, regression, feeding difficulties, sleep disorders, seizures, cerebral atrophy, 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. Many of these rare diseases are linked to brain genes and cause global delays and autism. My son falls into ALL of those categories.

Tony is one of those 30 million American’s and on February 28th we recognize him and everyone living with a rare disease. It 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 here. 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.

Rare disease patients like my son are superheros. They are brave, strong, courageous and unique. The are full of love and hope for research and treatments. You can make a difference in their life on Rare Disease Day and every day by recognizing them and by supporting them so that they can thrive and succeed.

​To learn more about ADNP Syndrome please visit www.ADNPkids.com and to learn more about Tony visit www.ADNPkids.com/Tony

If you would like to know what it is like to be a parent of a child with a rare genetic syndrome, this is EXACTLY what is it like! (see image below)