Undiagnosed Genetic Syndrome: How Do You Help When You Don’t Know What’s Wrong?

When your child is ill you just want them to get better. But what if you never knew what it was that was troubling them? This is Undiagnosed Genetic Syndrome. 

How could you fix things if no matter how many doctors you met, none knew what the problem was or what was causing it? And how would you cope if you never knew if your child would get better?

This was the reality for our family for almost three years as our much loved daughter Olivia failed to meet milestone after milestone. After being diagnosed with a heart condition, lung problems, eye and ear problems, we we were told it was likely her developmental delays were due to an underlying genetic syndrome. But no one could tell us what that might be. 

There were lots of guesses as we saw specialist after specialist and completed test after test. But it never brought us closer to an answer. I used to say she had Olivia Syndrome because it seemed so futile constantly telling people that we actually weren’t sure what was wrong. Especially when we were subjecting her to so much in a quest for answers.

There was so much uncertainty. Every couple of months a specialist would start investigating another syndrome that they were convinced Olivia had. Syndromes that often threatened dire outcomes with development regressions or even death. The emotional rollercoaster was ongoing and intense as we grieved and tried to come to terms with things, only to have them overturned again when she again was, once again, given the all clear. It was tough not just for us, but for all our friends and family, who love Olivia so much, and wanted nothing more than to reassure us all would be well – but they couldn’t.

Among all this was the heartache that my husband and I may never be able to have more children. We simply couldn’t risk having more kids with the same condition. Life was already so uncertain.

Luckily, life changed for us in 2015, thanks to the Melbourne Genomics Health Alliance. After doing an Exome sequence which scanned all of Olivia’s genes, scientists found a small mutation, which meant our little girl was actually one of just 400 children in the world who had Kleefstra Syndrome.

Kleefstra has only been a syndrome since 2010 and there is very little research available on it. From what we have been able to learn though, those who have the syndrome have moderate physical and intellectual disabilities and experience developmental delays.

Our wonderful Olivia started walking just last year and is now starting to talk using a combination of sign language and words. She’s very proud of herself for these milestones, as are we.

[mc_block_title custom_title=”The Importance of a Diagnosis”]

Getting a diagnosis was such a huge moment for our family, and one we thought would never come. Even when we agreed to Exome sequencing we were told our odds of finding out exactly what was going on were only about 20 per cent. Since finding out Olivia’s condition was a random mutation, our whole lives changed. We moved closer to a great specialist school where Olivia will get the support she needs, we got a disability sticker for the car and other specialist equipment, we got support from other Kleefstra parents around the world through Facebook, and we expanded our family, welcoming a boy, William, last October.

While some aspects of Olivia’s diagnosis were confronting, for us living with the “undiagnosed genetic syndrome” label was like being stranded on an island in the middle of the ocean.

Sometimes the water would be still and clear, but you could never ignore the waves that might be lurking over the horizon. Sometimes, out of the blue, I would be hit with exhaustion, regret and grief. It was easy on those days to be totally overwhelmed and to run through every detail of the pregnancy and our parenting, wondering if we had done something wrong.

Now we have a community we can turn to for advice and help, and Olivia’s specialists and therapists can help us to plan for her future.

But there are hundreds of families in Australia just like ours who are still waiting for help to unravel their mystery illnesses.

[mc_block_title custom_title=”But what of the undiagnosed children and families?”]

We are members of Syndromes Without a Name Australia and we see so many families who are desperate to access exome sequencing and other tests to try and help their child. In Melbourne alone, the Royal Children’s Hospital estimate that they see 20 families a week who would benefit from extensive genetic testing. Up to 60 per cent of cases where a genetic syndrome is believed to be the cause of a problem, remain undiagnosed. The tests are expensive, and in most cases have to be privately funded. In our opinion, that shouldn’t have to be the case.

It’s nothing short of a miracle when we hear stories of families who have lived in uncertainty for years finally getting a diagnosis. It changes lives – not just for the child, but for their family, friends and community.

[mc_block_title custom_title=” National Undiagnosed Children’s Awareness Day”]

Annually as a family we now acknowledge National Undiagnosed Children’s Awareness Day. Events are held around the country, with family fun days in Melbourne, Sydney and Brisbane to raise money and awareness for those families who are still waiting for answers.

The days will be brilliant with food, family entertainment and lots of fun, but there’s a seriousness behind the smiles. Our hope is that every child living with a mystery illness will one day soon be able to access the support they need to get to the bottom of their genetic mystery. And that no one is left in the dark.

This article by Kate McMahon.