IN HONOR OF "RARE DISEASE DAY"

How My Son Won the "Mega Millions Lottery Jackpot" of Rare Disease

Everyone at one point or another dreams about winning the lottery.

We dream of winning that enormous 'mega millions jackpot'! We dream about the wonderful things we could do with the winnings, We dream of how our lives could change. We dream about all of the incredibly good and amazing things that would happen if only we lucked out and drew those magic 6 numbers.

But the odds are stacked against us, and there is probably a one in a billion chance of someone reading this post actually hitting the jackpot, yet we still dream!

My dreams were shattered when my son Tony won the equivalent of the "Genetic-DNA-Lottery"!  He didn’t just win; he hit the Mega Billion Jackpot!

Look at this picture above, all you can see in his face is pure and unfiltered joy. This adorable little boy looks like the happiest kid in the world. Not because he just won millions of dollars on a lottery ticket, but because he is on his all-time favorite Disneyland ride Dumbo! Look at that face one more time, that smile, that joy. I bet it makes you happy just looking at it.

But now read this and then look at this picture again. What you can't see are his numerous brain and heart abnormalities. You can't see that he has had mini strokes, seizures or that his brain is shrinking. You can't tell that behind his beautiful smile he can't speak, has severe autism, profound intellectual disability and global developmental delays. You can't see that he must still wear diapers, that he can't feed himself, dress himself, communicate or even have the ability to tell us if he doesn't feel well. You can't imagine that he has no friends, never gets invited to parties and often sits alone in a school classroom with no other kids because when you are this severe that is where your school thinks he belongs. You can't see the heartbreaking sight of his little body full of surgery scars down his chest, across his back and all over his body. You can't see the dozens of other medical conditions that he suffers with each and every day. The only thing you can see is that great big gigantic mega millions jackpot "winning smile"!

When this beautiful boy was born in 2008, along with his equally adorable twin brother, we felt like we had won the lottery! We had an amazing 2 year old daughter and now 2 healthy twin boys. But within hours, everything changed, everything started going very wrong with Tony. Our dream of our perfect family, life and plans for the future, all came crashing down on us and our new family was forever changed and the life we dreamed for our son was forever broken, he had something so severe and rare that it took 6 years to diagnose him.

In 2014, after years of hospitals, specialists, surgeries, therapies, 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! Yes, that would be the "bad luck mega billion DNA 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 even more, 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, it's just changed in Tony's DNA.... . Like I said, Tony hit the genetic-jackpot, what are the odds?

But he is not the only one out there. There are approximately 300 other children in the world now 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 just about every system in the body. 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. Characteristics in children are a happy demeanor, frequent smiling and laughing. A unique biomarker is early baby teeth eruption; most children with ADNP syndrome had a full mouth of teeth by their 1st birthday.

Tony is an adorable 13 year old little boy. He has the most incredible smile, an infectious laugh and the sole of a warrior! He has endured so much pain and hardship in his life, yet he always smiles. In addition to his brain and heart abnormalities, he has cortical vision impairment, severe cognitive and global developmental delays, repeated regression and loss of skills, feeding difficulties, sleep disorders, seizures, cerebral atrophy and has had dozens of surgeries and procedures, including two open heart surgeries. He 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 protection because he has no understanding of danger. These are just “some” of the 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 diagnosed in children
• 80% are genetic in origin
• 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.

Tony falls into ALL of those categories. #jackpot

Tony is one of those 30 million American’s and on February 28th this year, we recognize him and everyone living with a rare disease. It is WORLD RARE DISEASE DAY!

The main objective of Rare Disease Day is to raise awareness among 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.

Rare disease patients like my son are superheros. They are brave, strong, courageous and unique. The are full of love and they hope for research, treatments and a cure.

​You can make a difference in their lives on Rare Disease Day and every day by recognizing them and by supporting them, so that they can thrive and succeed the best that they can.

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

https://www.cbsnews.com/news/one-moms-mission-to-find-a-cure-for-her-sons-rare-disease/

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To read a story about our journey to finding treatments click on the link or photo below:
https://sparkforautism.org/discover_article/the-fight-for-tony-a-mothers-quest-to-unravel-a-mystery-and-push-autism-research-forward/?category_selected=&page=1&keywords=

​Author: Sandra Sermone
​Sandra founded ADNPkids.com in 2015 and the ADNP Kids Research Foundation (IRS accredited 501(c)3 nonprofit) in 2016 and acts as the Director and President for the foundation. Sandra serves with the following organizations: National Organization of Rare Disorders (NORD) ​RAN Washington State Co-Ambassador, Autism Speaks Advocacy Ambassador, SPARK for Autism (Simons Foundation) Community Advisory Committee, International Society for Autism Research member, ADNP International Consortium member & Global Genes Foundation Alliance member