Written by Rowland's Mom
Rowland (aka Roly) is one of 5 children in our blended family! When I gave birth, my obgyn placed him on my chest and said, “You have given birth to the most perfect little boy. We know everything about this little guy!” She said this as we did extensive genetic testing in utero during my amniocentesis, as we had lost a baby girl in between pregnancies and the tests were negative for all syndromes linked to autism and many other microdeletions. (Little did we know, the ADNP gene mutation was not discovered until the year that he was born (2012) and it was not on the genetic panel.)
We brought Roly home and smothered him with love. The first nine months seemed relatively normal but my husband and I always made observations about one notched eyelid, clenching fists and his unusual gaze towards lights and moving objects. These notations proved to be a precursor to his ultimate diagnosis.
As Roly developed so did some of his underlying symptoms of ADNP syndrome. For example, he has a thyroid condition, had two eye surgeries, a tonsillectomy, and android removal as well as two sets of hearing tubes. These were the medical issues and with that we noticed his inability to meet his developmental milestones in gross, fine motor and cognition development. He was a late walker, had a few words and then lost them and he loved to mouth all objects. As the days passed by, the severity of his symptoms became more pronounced. He was obsessively drooling, had a full set of Chiclet sized teeth and his sleep was erratic to say the least. We began to become concerned that something was not right.
We took Roly to many top neurologists and naturopaths who all said, “Roly has the Rowland syndrome -which is a set of developmental delays. He will catch up with some early intervention.” I almost felt like we were told to “Cool Our Jets”.
That feeling made my husband and myself want to go further into our research. We changed his life at home. Since his early years we put him on a gluten and dairy free diet. He takes a daily concoction of supplements and injections of B12 every 3 days. We stopped his immunizations and we met with an endocrinologist who prescribed a thyroid medication and set up a meeting with the head of genetics at Weill Cornell at NY Presbyterian hospital. With mere saliva cheek swab and a blood sample, his destiny laid in the hands of genetics again.
On August 30, 2016 Rowland was diagnosed with ADNP syndrome (also known as Helsmoortal-Van Der Aa Syndrome), an extremely rare, non-hereditary neurodevelopmental disorder.
That day was life changing. My husband and I were given a few pieces of paper with his results and were told that only 54 children had been already diagnosed.
I will never forget the southern accent of the genetic doctor saying that children with this syndrome may have an IQ of 30. With tears streaming down my face, I said to him that an IQ of 30 was mental retardation and that our son was not going to have an IQ of 30!
The next few days were filled with sadness and grief. The strangest part was grieving for a child that was still alive.
I will never forget my husband saying to me that the diagnosis was not going to define him or our family. We were not going to be ashamed or in denial or change our love for him. In fact, we were going to collectively fight for him and all other children affected with ADNP syndrome.
I contacted Sandra Sermone, the President of the ADNP Foundation and the ADNPkids International Family Support Group Facebook page and I began to talk about her son Tony and all the other ADNP children worldwide.
Talking to her brought huge relief and solace. It was able to share my feelings with another mother who experienced the same dark moments that I had.
Around that time, my grief turned to feelings of HOPE. I woke up one morning and said to myself “This is your life Genie, make to most of it for all your kids and make a significant change for Rowland.”
Since, that day over two and half years ago, Jamie and I contacted Dr. Illana Gozes, the professor who discovered the ADNP mutation in Israel who was incredible in her explanation of Roly’s mutation and how it affects his body. She is also the mastermind behind a possible clinical trial that might have efficacy in helping children with this syndrome.
From there, we met Dr. Joseph Buxbaum and his incredible team at The Seaver Autism Center (Icahn School of Medicine at Mount Sinai hospital) and have helped facilitate and start a comprehensive study on ADNP syndrome. This study is currently taking place with as many as 10 children and is booming!
I have become the Vice President of the ADNP foundation and Jamie and I have been working hand in hand with Sandra on the comprehensive study at Seaver. This involves a mass amount of fundraising, learning about the research projects taking place there and working towards a clinical trial or pilot study for a drug that may help children with ADNP.
The path Jamie and I have taken has been one with hope. As members of the Seaver Board we are learning more about autistic related disorders, lowering the price of genetic testing and the science behind ways we can help families in their journey with their loved ones.
All of this has happened because Roly was born! Roly has opened our eyes to looking at life with more gratitude then before.
A child with a disability is humbling. As a parent, you celebrate every little success or milestone. Roly’s eight-year sister calls each new discovery a “Starfish Day”. This came from her declaration years ago that Rowland would walk or talk or feed himself on “Starfish Day”. That day would be any day that he was ready to show us his capability or what he can do. We experience many “Starfish“ days and for each new skill he learns it becomes a milestone!
With milestones also comes many days that I feel like a wilting flower. This happens if Roly pulls hair, has a terrible nights sleep or is sick but can’t use his words to express a tummy ache, sore throat or growing pains. But, the flower stem always reverts to standing and growing with support from providers, family, doctors and friends. But, most of all Roly keeps the flower blooming to it fullest. He in my eyes is “the prefect little boy” that was handed to me at birth. He will defy the odds and will never have an IQ of 30 because he is uniquely brilliant in his own way. An IQ is just a number and we will never put a number on him. Instead, Rowland will lead the way with his ADNP diagnosis and now that we have Seaver and a network of families who live similar lives we feel that we have hit the Jackpot and for that we are grateful!
Articles including Rowland and his family:
Starfish Days By Charlotte Egerton-Warburton (Age 8):
The Baby Nation Show - Roly and the ADNP Tribe:
Health Central - ADNP Syndrome: From Powerless to Empowered
Seaver Center for Autism- finding a cure:
Orange Socks teaser interview (Whole Family)
Extensive Orange Socks Interview about finding out about Rowland’s diagnosis and how we live day to day.
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