The Journey to a Diagnosis
December 2021 saw us welcome our second son into the world, another IVF miracle we were so blessed to have.
Life quickly changed upside down., however, when we came to realise within just a few days that he was the most unsettled and unhappy baby with severe silent reflux and feeding issues I can’t even tell you the amount of visits we had to the GP, private feeding and tongue tie specialists, private cranial osteopaths, private baby chiropractors. On top of these difficulties, we also became aware that Samuel was not hitting any of his milestones all behaving in the same way as his older brother. It felt like no one cared or listened.
“They are all different”
“He’ll do things in his own time”
“Is he your first?”
We lived off minimal sleep a maximum worry. A private osteopath eventually got the ball rolling when she confirmed that a few things weren’t quite right with Samuel’s eyes and reflexes and got in touch with the health visitor and in turn the GP who referred us to a gastro paediatrician who then further referred us to a neurodevelopmental paediatrician.
It was such a relief to be listened to but also terrifying the speed and number of appointments that came through. Samuel had test after test. The doctors were convinced it was a genetic condition, but everything came back clear apart from MRI which had some abnormalities they initially described as PVL but later retracted that and said they were insignificant.
It was late in 2024 when the doctor discussed retesting genetics as it had been two years since his last tests. I happened to mention a new genetic condition ReNU syndrome that I had seen on the SWAN Facebook group. The doctor agreed there were facial similarities between the other children and Samuel and said she would discuss it with the geneticist.
Just a few weeks later I received a phone call from the doctor and instead of letting me know the outcome of the discussion she called with the news that the Whole Genome Sequencing genetics panel had retested Samuel’s sample and confirmed he did in fact have ReNU syndrome.
A diagnosis – The one thing we had longed for. To confirm it wasn’t all in our head; To confirm it wasn’t nothing we could have prevented; To confirm it wasn’t my fault.
I was ecstatic.
Now we are a month down the line, my emotions have changed completely. I’m terrified. I feel so grateful to have been able to connect with a network of other parent carers in the same boat. But now, having an idea of what the future might look like for Samuel, I’m scared and sad. There’s a new worry about seizures (as they’re a big part of the condition), there’s the confirmation that Samuel is likely going to need caring for, forever, and finally the guilt that Elliott, his big brother, is going to have to take on a much heavier, caring burden in his life than he should ever have to.
I know these emotions will subside again, as we learn to accept and come to terms with everything. I know they will subside as we continue to navigate this life we have been handed as a family. I know they will subside as we continue to enjoy Samuel’s cheeky smile and infectious personality. But for now, I will admit that I’m not quite OK, but I will be!
Michaela Kerr
