Asperger Syndrome and Beckwith-Wiedemann Syndrome
Our family shares the joy of two genetic medical conditions. Here is a bit about them.....
We are a family that is blessed with a great diversity in our abilities, minds and personalities! My boys, both Master S and Master J have a diagnosis of Asperger Syndrome. This is a form of Autism or also known as a Persuasive Development Disorder.
Classic Autism, Asperger's and PDD-NOS all fall under the umbrella of Autism Spectrum Disorders.
Contrary to many peoples speculation and opinion - Autism is not always associated with intellectual disability. The majority on the Autism Spectrum are brilliantly intelligent.
I would be blessed for those of you reading this to broaden your knowledge on the disorders. To gain greater understanding, patience, knowledge and respect for the many people in our communities who are affected by ASD's.
I remember the most heart wrenching comment spoken to me by one of my oldest friends whom I thought had some understanding of ASD's. She commented when my boys were playing with another child whom has an Autism diagnosis... "he doesn't look autistic". What does an autistic person look like to you? Not all people with an ASD will run around in a circle or stim every minute of the day.
My heart was broken by the fact that even some closest to us chose not to educate themselves. I hope my blog can help broaden the knowledge in the world of two interesting conditions that our family is affected by.
Check these out...
Autism Research Centre
Beckwith-Wiedemann Syndrome is a rare genetic disorder that affects approximately 1 in 13500 people. Our Master S was diagnosed at the age of 3 months old.
He has had a glossectomy (also known as tongue-reduction surgery) at the Melbourne Royal Children's Hospital; performed by Professor Andrew Heggie.
He has had regular monitoring for whilms and heptoblastoma lesions which have all been clear. Master S grows steadily on the 98th percentile. He is exceptionally gifted and my angel.
Master S was born with the typical diagnostic characteristics which include:
Macroglossia (enlarged tongue)
Ear pits and grooves
Enlarged kidney and intestines
For further reading please check out this website
and there are also a few facebook groups.