ADNP-syndrome – Breaking out of the bubble.

The story of Jesper

My son Albert found his tribe in the spring of 2015. He was 5 years old then. Born in 2009, Albert had a rough start to life, barely surviving birth. Due to a congenital heart defect, Fallots Tetralogy, he had heart-surgery at the age of 3 days old, and again at 3 months old. We were all quite traumatized after that.
 
In hindsight, we did notice differences as time passed along, and we did express our worries. But only vaguely, and our surroundings kept calming us, referring to his rough start to life, and that he just needed a bit of extra time to catch up. However, signs grew bigger and Albert didn’t seem to catch up, rather the opposite.
 
Albert was developing increasing discomfort, stress, stomach-issues, distancing himself from peers, having great trouble tolerating loud and sudden noises, being very focused on lights and spinning objects continuously.
So we went in for an evaluation for Autism, and had a diagnosis of Atypical Autism with a long list of extras to the menu…
 
Then came a period of trying to make the world around us see, and understand these difficulties, and Albert’s stress and compulsory behaviors just kept increasing. Heart surgery would almost seem like a walk in the park compared…
 
It was quite diffuse and not really all that helpful, but fortunately someone wondered and suggested a Whole Exome Genome test, and we went along. The answer was delivered by a Doctor, knowing next to nothing about this particular syndrome, but then neither did we. But we where referred to the Cognitive Genetics Dept. of the University of Antwerp web site, where a small Facebook-button could be found.
 
That day we met our new loving and understanding family. Oh what a day it was. From there on we had people to connect with, people to ask, people who knew. Knowledge and experience, nothing really compares when you have a child with a rare disease, and we are so happy to be part of this community, although scattered all over the world.
 
Albert is now a school-kid, enjoying life when the music plays, and the waves hit the beach. And he willingly shares hugs and laughs with his closest and trusted. Yet peers are still a bit too loud and unpredictable, but tolerance is increasing.
In general, we have a happy and joyful son, although not quite enjoying the same as other kids his age, but certainly many great things quite out of the ordinary, which seems to fit him quite well.
 
We have had the immense joy of meeting a family from Norway, and yet another family from Denmark, where we live ourselves. So we are slowly building relations and connecting. Sharing experiences and doubts, questions and answers, and above all, the love of our children and the hopes for their future.