A young mum is hoping to help her little baby girl defy a rare genetic condition.
Courtney Olsen has spoken of the challenges little baby Reeva will face as she lives with the ultra-rare Pitt-Hopkins genetic condition(Image: Courtney Olsen)
When Courtney Olsen gave birth to baby Reeva in June 2024, the little baby seemed well – but by the time she was six weeks old signs of developmental problems began to show themselves. After a series of appointments with NHS experts and even genetic testing, Reeva was diagnosed with an “ultra-rare” condition called Pitt-Hopkins when she was 11 months old.
This is a condition currently thought to affect just 300 families worldwide – and Courtney said that while she had expected “something” – this news was still a real shock. The South Shields single mum, who works in addiction support, told ChronicleLive she was determined to do whatever she could to give Reeva the best life chances possible and raise awareness of the condition.
Pitt-Hopkins is a rare genetic condition caused by a “deletion” on one of Reeva’s genes. It’s impact is unknown at present – but it is a neurological condition which causes a range of developmental problems. It could mean that Reeva struggles to walk and talk, for example.
Courtney said: “It was just a normal birth, everything seemed fine. She seemed fine and there was no obvious concern about anything being wrong with her. But when she was roughly six weeks old her health visitor came out and noticed a twitch with Reeva’s eye.
“She said she had never seen anything like that. I said I had noticed a few times but as a first-time mum I didn’t really think anything of it.”
The little girl was referred to a consultant ophthalmologist – but tests revealed nothing of obvious concern. Courtney added: ” He checked all about her eyes – and said her optic nerves were fine, and that while she was short-sighted this might change in future – and that was that.
“They said to keep an eye on her – and that if there issues with her development they would look into things further.”
Our ChronicleLive Daily newsletter is free. You can sign up to receive it here. It will keep you up to date with all the latest breaking news and top stories from the North East.
But the next time the health visitor attended their home, Courtney asked for a broader opinion on how she felt Reeva was developing. And as a result, they were referred to a paediatrician.
Courtney added: “Reeva wouldn’t really use her right arm very much. She would just always use her left arm to grab things. The health visitor said she would refer us to a paediatrician – and by the time we got to see them, we knew Reeva wasn’t really developing as she should have been.
“So we saw the paediatrician and were sent off for blood tests Everything else was checked and nothing stood out. We had to wait three months for the genetic testing to come back.
“We got that at 11 months old – in May – and were told that Reeva has this ultra-rare condition.
“It was such a shock. I did expect something – just as I knew children her age who were doing a lot more than she was – but I hadn’t thought it would be something like this.”
Courtney Olsen with daughter Reeva – who has the ultra-rare genetic illness Pitt-Hopkins(Image: Courtney Olsen)
As for the impact, as it stands how severely Reeva will be affected is a huge unknown. “She might not walk and talk. She could have seizures. It’s all unknowns for us now,” Courtney said. “She’s going to have a learning disability but we don’t know how severe that is going to be.
“All we do know is that her development is behind. As it’s such a rare condition, speaking about it is really hard. No-one really knows much.”
Reeva’s grandmother – Courtney’s mum – Deborah has set up a GoFundMe page to support them, especially given the difficulty of being a single-mum who has to work full time to support the family. Courtney added: “This is not the road we wanted but it is where we are.
“Reeva has always been a really happy baby. She’s always smiling and smiles at everybody. She’s such a lovely little girl. What I didn’t realise is that it can be part of the condition.
“I’m someone who never asks for help. I have been really dedicated and always working since leaving school and would never have wanted to be asking others for money especially when I know times are hard – but’s something I’m doing to give Reeva the best chance in life, whether that’s to get her help to walk or just to be able to be a child. “It’s mindblowing that people have donated to give her that.”
And speaking about the future, she added: “Our journey might look different to others, but it’s ours — and I’m so proud to walk it with Reeva by my side.”
Find out more and visit the crowdfunding page here.
ChronicleLive has created a dedicated WhatsApp community for breaking news and our biggest stories. You can join this WhatsApp community here. It will keep you up-to-date with news as it breaks and our top stories of the day sent directly to your phone.