When your child is diagnosed with a Rare Chromosome Disorder, it doesn’t really feel like a diagnosis at all. At least it didn’t to me at the time.
“Yes, but what exactly is the name?” I’m fairly sure I shouted at our then peadiatrician down the telephone at 5pm on a Friday.
“There isn’t one”, he said, “it’s a deletion on her seventh chromosome; apply for the Carer’s Allowance, you’re going to need it”. And that was my introduction into the world of Rare Chromosome Disorders. Later on, when I received the official microarray result letter, it stated Evie’s deletion was a terminal deletion (meaning at the end of the 7th chromosome) but I thought she was going to….well, you know.
After scans revealed some spinal anomalies in utero and on subsequent x-rays post birth, I had a strange sense that things weren’t “quite right” with my adored daughter Evie in the months afterward. But Evie fed, slept and developed well and in some areas was reaching milestones ahead of the “norm”. Still, after repeatedly informing our health nurse and peadiatrician that something just wasn’t right, a blood test was performed when Evie was around 14 months old. The result came back with the diagnosis of a 7q36.2-36.3 deletion. Much googling and reading ensued but when there is no name, no support group and obvious research, a worried mum cannot make sense of this on her own!
Almost 4 years have passed since Evie’s diagnosis, bringing with it genetics appointments at the wonderful Royal Children’s Hospital in Melbourne, lengthy and risky spinal surgeries, MRI’s, eye surgery, grommet surgery x3, tonsillectomy and numerous appointments with well-known and highly regarded orthopaedic and neuro surgeons. I have read research articles and genetics books to educate myself about various chromosome disorders. Not your typical bedtime reading material!
Evie is developing wonderfully well and I have finally connected with various support groups around the world including Unique; the Rare Chromo support group which even has a booklet about 7q.36 deletions. Some of the information applies to Evie and some does not. Even though Evie has a diagnosis, much of it is still a mystery – a wait and see scenario. So far, she is the only child in the world with her exact deletion that we know of. Of these 51 deleted genes, 4 of them have been identified as performing a specific role in crucial in-utero development. Some of the genes are responsible for her physical issues such as a tethered spinal cord, and other genes there just isn’t enough research into as yet. Despite all of this, Evie is a non-stop chatterbox who loves to dance and sing and is extremely social and loving. In many ways, a very typical 5 year old. She has recently mastered the fine art of hopping, which is a major milestone worth shouting from the rooftops about! We special needs mums really do learn to celebrate the littlest achievements, things parents of ‘typically developing’ kids may not consider worthy.
Sometimes a diagnosis can bring with it more questions than answers. Sometimes I’m ok with that, and sometimes I’m not. But I am always ok with having this unique little girl by my side.
Alison Prior – 2016