7 years ago we were given the life changing news that Isla had a rare chromosome disorder. I remember taking the phone call from the Paeditrician on a sunny Friday afternoon. I remember writing down a bunch of numbers and letters on a piece of paper and only taking in some of what he was saying as the shock took over. Deletion on long arm of the 2nd chromosome…..referral to genetics…..not sure what this means.
It was a surreal feeling as we had been given a diagnosis but no information at all about what it meant. We had already been told Isla had autism a few months prior and I was still slowly coming to terms with that. This was another whammy and proof that this wasn’t just all in our imagination! This was the start of the constant sinking feeling that I carried for a long time as I adjusted to the fact I would be a mum of a special needs child, who would then grow into a special needs adult.
Of course I immediately went to Google. I found a few worst case scenario case studies with terrifying descriptions such as mental retardation and intractable epilepsy. Meanwhile the Genetics Department had been in touch advising of an appointment in 7 months time!
I then came across a newly formed Facebook Group and I joined in September 2012. At this stage there were a handful of parents and we were all relatively newly diagnosed looking for answers. I wanted to get a glimpse into Isla’s future and see what similarities she shared with other children.
Many of these parents still exist in our support group today, along with many many others from all over the world, as children with 2q23.1 MDS* or now more commonly known as MAND** are increasingly diagnosed. Our children’s rare diagnoses suddenly seem not so rare at all!
The Facebook group eases the isolation of being a special needs family with a rare genetic anomaly. Technology connects us across oceans, cultures and languages. It really is a life line for many families. Noone ever tires of helping new members come to terms with their child’s diagnosis as we all get it and have been there. We answer questions and help point them in the right direction in terms of therapy, early intervention, schooling and medication. We have more knowledge, advice and experience than any specialist.
We celebrate our children’s successes, offer kind words in hard times and are constantly searching for ways to help our children.
As a group we have driven research, raised awareness and a few of our families have managed real life meet ups. So far we are the only family in New Zealand that we know of but hopefully in time we will be able meet our on-line friends and Isla will be able to meet some friends with the same genetic makeup as her.
*Microdeletion or Microduplication
** MBD5-Associated Neurodevelopmental Disorders