Kate McMahon shares her story about what it is like to receive a diagnosis and how the family copes when that diagnosis is so rare.
I used to joke that my daughter had “Olivia Syndrome” when people asked me what was wrong with her. It seemed a better thing to say than “actually, we really don’t know.” Because for two and a half years, my husband Tim and I had no idea why our beautiful little ray of sunshine had so many issues. It is a huge relief to be able to now say to people: “she has Kleefstra syndrome”. There are only about 300 people in the world with “KS” and it is so rare not much is known about it. Typically, those with the syndrome have moderate physical and intellectual disabilities and experience developmental delays, but there is a large spectrum of abilities so we are still working out where we fit.
When I was asked to write about what it was like to get a diagnosis for Olivia, I guess the overwhelming feeling we have is that we are lucky. I think you always assume, until you learn differently, that doctors hold the answers to most ailments. We had done a lot of tests, including an MRI and several x-rays and ultrasounds, as well as blood tests and photographs. So it was sobering to be told by the Genetics team at the Royal Children’s Hospital that Olivia had an undiagnosed genetic syndrome, and the likelihood was they would never be able to tell us what it was.
Thankfully, in February 2016, against the odds, we finally got our answer. Olivia had been put forward to participate in the Melbourne Genomics Health Alliance Demonstration Project, a prototype to show the effectiveness of whole exome sequencing in diagnosing rare syndromes. We were warned in advance the chance of her exome sequence finding something was only 20 per cent, which had really haunted us. We wanted more children in the future, but were not prepared to shoulder the unknown risk of having another child with Olivia’s issues.
We got a call about ten months after the test was sent away to come in for a chat with our geneticist, Dr Zornitza Stark. She told us she had found the tiny “spelling mistake” in Olivia’s genes which resulted in Kleefstra. There were a lot of tears and hugs.
I think every parent holds onto that tiny bit of hope that all of a sudden, their child may just “come good” until they are told otherwise, even when you know that is against every instinct. But reading the brochure on KS, it was like someone was perfectly describing our daughter. It was so overwhelming and inspiring to see other families talking about how their children were at school, walking and talking – milestones we were never sure until that moment if Olivia would be able to meet. But there are many obstacles we will have to deal with too. We have since linked on Facebook with some of the parents whose children have KS, and we know that there are many, many very tough challenges to come for Olivia and ourselves. Overall, however, we are so relieved to have the diagnosis.
We sincerely thank Kate, Olivia and their family for sharing their story.