Rhiannon Louden shares her experience of receiving the diagnosis of her daughter’s rare, life limiting condition
Originally from Canada and now based in Glasgow, mum of two Rhiannon Louden is a freelance photographer specialising in weddings, elopements and proposals. In spring 2024, she received the news that her youngest child has Rett Syndrome.
I knew something wasn’t right. Poppy had stopped hitting her milestones, and her behaviour had really changed. Everyone assured us she was “probably just taking her time”, but soon their concerns grew too. Just shy of her turning 18 months old, this nightmare began.
It was a fight from the get-go. To be taken seriously, to see the right people, to get proactive care. So many appointments; no answers. We ruled out the less severe explanations, and our worry grew. Finally, just after Poppy’s second birthday, we got an appointment with a developmental paediatrician who wanted to run genetic testing.
Four months of excruciating waiting. They tell you not to Google, but of course you do. I came across Rett Syndrome: a rare neurological and developmental disorder that fit Poppy’s symptoms.
A RARE SYNDROME
The doctors thought so too, and decided to test specifically for Rett. We asked for a change in paediatrician to someone with experience of rare genetic disorders (Rett affects one in 10,000 girls), so Poppy would get the best care. We would never have known to do that had it not been for the support we found through the Rett community online: they were, and are, our lifeline.
Almost one year to the day that we first raised concerns, we got the call.
I walked into that appointment feeling almost certain we were getting a positive diagnosis. My husband was more optimistic, wearing the ‘lucky’ t-shirt he’d worn for the births of both daughters.
We sat down facing our new paediatrician and a geneticist. She had tears in her eyes. I knew before she said the words. “The test has confirmed Poppy has Rett Syndrome.”
I don’t remember much else. I sat there quietly, listening but not hearing.
A RAW MOMENT
On the drive home, we desperately tried to push past our grief, reassuring each other that knowing was good: a diagnosis meant we could better help Poppy. Sharing that news with Poppy’s big sister, Charlotte, was one of the hardest things I’ve ever had to do. She listened carefully, and let out a wail of grief: perfectly encapsulating everything I felt.
The three of us held each other tight, clinging on for dear life as we mourned through our tears. In that raw moment, we found a new closeness and strength.
And, for the first time that day, I felt sure that we would get through this.
FOR MORE INFORMATION
Discover Rhiannon’s work at rhiannonneale.com, and keep up to date with her experience as a busy mum juggling business and a child with additional support needs via instagram @rhiannonneale.