Every year on 23 February parents of children with this rare condition set about raising awareness about this relatively unknown genetic syndrome.
I happen to be one of them.
Isla was originally diagnosed with 2q23.1 Microdeletion Syndrome.
In Isla this causes autism, epilepsy, intellectual disability and other associated issues.
We are 12 years into our journey raising a child with this condition and 10 years from the realisation that something wasn’t right with our child who reached all her initial milestones.
From the time Isla was diagnosed her condition has been renamed MAND by Geneticists.
This stands for MBD5-Associated Neurodevelopmental Disorder.
This encompasses not only microdeletions but also deletions, duplications or disruptions within the genetic region of 2q23.1
Isla’s tiny deletion is on the long arm of the second chromosome.
The deletion itself is small enough at 180kb to not necessarily be problematic.
It is because it also deletes part of the MBD5 gene that causes the problems. MBD5 is a gene which is haplosufficient.
In simple terms this means the remaining copy of the parental gene is not adequate to produce the needed gene product to preserve normal function.
MAND parents find each other through a private Facebook group that was set up in 2011.
Even though our children are all unique they share similar characteristics.
Every Awareness Day we find many more families who find relief in finding support and knowing there are others out there sharing the same challenges, battles and heartbreak.
We also celebrate our wins and love for our children with others who understand.
Other goals for our Awareness Day are to educate others thereby increasing understanding.
This will hopefully lead to inclusivity and hopefully in time foster necessary medical research worldwide.
Our Awareness Day is largely run online through our public Facebook page.
We ask that people dress in blue and upload a photo to show their support.
If you would like to help us you can visit https://www.facebook.com/2q23.1
#bluefor2q and #mand