Why My Son With ADNP Syndrome Is Just Like Superman
Tony is an adorable little boy who was born as a healthy twin along with his brother Rocco. However, at 2 weeks old we were told that Tony had a very rare congenital defect, and we were sent to genetics and a long list of other specialists. And so began our journey with our “Man of Steel.” Here are five reasons why he’s our Superman.
1. He is brave. Since Tony had his first open heart surgery only a few months old, we called him Superman. He was always so brave and for most of his many surgeries and procedures, he sported adorable Superman pajamas – cape included. The cape was not only cute, it made a statement. The cape is what made him look so strong, so capable, so powerful and so brave, even though he was just a little tiny baby boy.
2. He is unique. As time went by, more and more severe medical conditions were discovered. We were heartbroken, scared, and like all families who have a child with rare medical conditions, we did not know what the future looked like. We discovered Tony had many brain abnormalities, four heart defects, a neurological vision impairment, GI problems, feeding problems, sleep disorder, autism, severe global developmental delays, strokes and more. Tony could not walk, talk, look at us, play, or even chew and swallow to eat. On the outside, he was a beautiful baby boy; on the inside his illnesses were causing a great big medical mess. And no one could give us any answers to why this was happening.
3. He is strong. As a baby, Tony spent almost every single day seeing doctors and developmental therapists: geneticists, cardiologists, neurologists, endocrinologists, allergists, gastroenterologists, urologists and other specialists.
Years went by, meaning more surgeries, tests, scans, pokes and prods.
Each major surgery would knock him down, but each time he would get right back up!
He would do therapy after therapy, test after test, and endure things that would make an adult drop to their knees.
Once I watched as they had to take blood out of a vein on his head. He didn’t even flinch and the young student/ tech helping hold him down said, “Wow, this is one badass boy.” I burst out laughing and said, “Yes, yes he is!”
4. He is complicated. Tony was undiagnosed for six years and underwent years of traditional genetic testing, which kept coming back negative. But in 2012, he started to have significant regression and it was discovered that he had an episode of cerebral atrophy. At that point, his doctors seemed to give up looking for answers. We were unsure if he would live or die, or if his twin brother was affected. We were not going to accept not knowing what was wrong and we were not giving up on our son. So, we went out on our own in search of clinical trials and research studies. After hundreds of calls, he was accepted into an Undiagnosed Genetic Syndrome study at Duke University, where in a matter of months, using whole exome sequencing (WES) and an LDT from GeneDx, he was diagnosed with a mutation on his ADNP gene.
5. He has a purpose to help others. We found out Tony has a mutation on his ADNP gene causing a syndrome that includes autism, developmental delays, and affects many other organs and functions of the body. He and many other wonderful ADNP kids are now becoming even greater superheroes by participating in research studies by medical and genetic teams all around the world to define this newly discovered genetic condition.
He has donated his stem cells, blood, skin, baby teeth, hair and brain scans, all to help researchers understand ADNP and genetic autism. He has inspired me to put on my own Mommy “cape” to become a researcher and to create the first ADNP Facebook Parent Support Page, The ADNP Kids Research Foundation and ADNPkids.com. Because of Tony, we now advocate for all children with ADNP syndrome/Helsmoortel Van-Der Aa syndrome and won’t stop until we find a treatment or cure for these amazing children.
Our new team of superheroes now includes researchers at Cognitive Genetics in Belgium, ADNP expert Dr. Illana Gozes at Tel Aviv University in Israel, and the University of Washington and OHSU all working on research and treatments for our children. We have discovered treatments that are working for some of our kids. We have discovered phenotypes that will help with early diagnosis. We are creating a community of families and finding support. These families are participating in research and helping the greater good! We do not have a cure yet, but we are hopeful we can connect with organizations doing gene therapy and drug treatments. We have found amazing organizations like NORD and Global Genes which have been able to connect us with other advocates for children with rare diseases. We finally have a community of ADNP superheroes, and for the first time, we have hope.
My son Tony might have profound medical conditions and disabilities, but he is our Superman. While he might be behind developmentally, he is still moving forward little by little. Now, alongside 83 other ADNP superheroes all around the world, there is more hope than ever for these children who have this rare disease.
So if you have a child with a rare disease or genetic syndrome, don’t give up.
Instead, put on your cape.
To learn more about ADNP Syndrome go to www.ADNPkids.com.
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