Samuel’s Story
Meet Samuel — born in 2021, diagnosed with ReNU Syndrome in late 2024. This is his family’s story, in his mum Michaela’s words.
A blessing, and a change
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 number of visits we had to the GP, private feeding and tongue-tie specialists, private cranial osteopaths, and private baby chiropractors.
On top of these difficulties, we also became aware that Samuel wasn’t hitting any of his milestones, all behaving in the same way as his older brother.
“They are all different”
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 of worry.
Finally listened to
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. She 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.”
— Michaela
Samuel had test after test. The doctors were convinced it was a genetic condition, but everything came back clear apart from an MRI which had some abnormalities they initially described as PVL but later retracted as insignificant.
A new name for what we were living
It was late in 2024 when the doctor discussed retesting genetics, as it had been two years since Samuel’s last tests. I happened to mention a new genetic condition — ReNU Syndrome — that I had seen on the SWAN (Syndrome Without A Name) Facebook group. The doctor agreed there were facial similarities between Samuel and the other children, and said she would discuss it with the geneticist.
Just a few weeks later, I received a phone call from the doctor. 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 something we could have prevented. To confirm it wasn’t my fault. I was ecstatic.”
— Michaela
Samuel with his family
The complicated aftermath
Now, 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 — 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.
Not quite OK — but I will be
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.
“For now, I will admit that I’m not quite OK — but I will be.”
— Michaela
With thanks to Michaela Kerr for sharing her family’s story so honestly. Samuel’s story remains theirs to tell.
Every story matters
Samuel’s story is one of many — every family living with an RNU Condition has their own journey, and each one helps build understanding, awareness, and community.