ish dup(15)(q11.2q11.2)(SNRPN++) Approximately 8.7Mb DUPLICATION at 15q11.1-15q13.1 (PATHOGENIC)
We were, and no doubt most other families were when presented with a sheet of paper bearing a string of numbers and a diagnosis at their appointment.
The thing is, the sheet of paper is often given with little explanation other than ”It is a rare chromosome disorder” and “Unfortunately we don’t know much about it” and “Let’s wait and see how things go”.
But at that point in time, in that chaos and darkness, you don’t want to wait and see, you want answers, or at least the facility to obtain them. To be told by the very people who are experts that they don’t have the answers is soul-destroying, but such is the complexity of rare chromosome disorders that often the doctor has never heard of the condition before, let alone diagnosed and treated a child with it.
So, at that point you are sent away with a sheet full of confusing numbers, a million questions, some that you don’t want to know the answers to and a sense of confusion. An appointment with a geneticist usually follows some time later, although, by then most parents know as much about the condition as the geneticist does, and the appointment often seems like a frustrating waste of time that largely confirms what you already knew.
The reason why parents often know as much as the geneticist about the condition? A small group of hardworking specialists, dedicated to raising awareness and bringing families together to share information and knowledge. The team at Unique.
Luckily for us, our consultant had done some research and she handed us as much information as she had found, information courtesy of the hard work of Unique. In the weeks that followed the line of letters and numbers above were explained by the team, clarity was given to what they meant, support when needed and the opportunity to contact other families with similarly diagnosed children provided.
In the early days, we didn’t want to glimpse the future, the information and disorder guide from Unique read, the Facebook group joined but viewed from a distance, meeting other families was a step too far. Fortunately, the fear factor ebbed away as acceptance grew, and the support network provided by Unique came to the fore. We met other families, conversations followed and friendships grew.
Now, being thrown together by virtue of a shared chromosome disorder carried by your child is going to provide something of a melting pot of individuals, but thanks to Unique, as a family, we now have a group of friends who we meet with on a regular basis both locally and nationally.
Not only have we made some amazing friends, but we also now have access to a group of experts in all things 15q, knowledge gained over the years on the peculiarities and complexities of duplication 15q syndrome that is shared at will.
Advice and support in tackling non-medical issues such as disability rights, “the dreaded brown envelope” (for those not familiar with this, the brown envelope is when you are “invited” to apply or re-apply to highlight every minute detail of your child’s disability in the hope they may be eligible for support via DLA, a truly soul destroying process) or just a pick me up from another sleep deprived parent who understands when one of the group has had a day from hell and needs to vent.
Without the group and the friends we have made, I imagine there would be a real loneliness, left to our own judgement on the day-to-day, second guessing every behaviour, maybe foolishly accepting the word of the authorities and experts at will, not seeing the successes and achievements both within the 15q community and the wider Unique group that raise spirits and make you appreciate the little things.
All of that is only possible for one reason, and that is thanks to Unique. Through their hard work in connecting families, providing much-needed information, and, that on one week each year putting a greater emphasis into spreading the word through “Rare Chromosome Awareness Week”.
A week, where the profile is raised, lots of noise made to spread the word about these rare conditions and to interact with families who for whatever reason go without that help and support.
Breaking down barriers both for families where this is the day-to-day, but also in educating those who have never encountered a rare chromosome disorder and showing despite their rarity how common, in one form or other, they actually are.
So, on Rare Chromosome Awareness Week, thank you Unique, for being that light in the darkness back on diagnosis day, the ongoing support, opening door and creating new and hopefully lifelong friendships
Link to my wordpress blog and the original post from “A Dads View of 15q” is below for more posts on all things rare chromo.