My one-year-old daughter’s rare genetic condition makes her one in 300,000

Courtney Olsen, from South Shields, is raising awareness after her one-year-old daughter, Reeva, was diagnosed with Pitt Hopkins Syndrome.

It is an ultra-rare genetic disorder that affects development, movement, communication, and many other parts of daily life - with Pitt Hopkins UK estimating that there are only around 300 families in the country impacted by it.

Pitt Hopkins is caused by an abnormality in the TCF4 gene, which plays a crucial role in brain development and function.

Courtney has told the Shields Gazette how Reeva’s diagnosis came about after health professionals noticed something wrong just weeks after she was born.

The 27-year-old said: “From around six-weeks-old, professionals noticed that Reeva couldn’t follow things with her eyes - I’m not sure of the medical term but it was like her eyes were shaking, which no one had seen before.

“The health visitor referred her to an eye consultant when she was around three/four-months-old, who found that she was short sighted but all of her optic nerves were good.

“I wanted to get it sorted so I asked the health visitor to refer us to a paediatrician who carried tests on her blood and DNA.

“She wasn’t developing the way she should have been, she wasn’t rolling over or holding her head up as her muscles were very weak.

“Then in May, we got the news that she has Pitt Hopkins Syndrome.”

Courtney has revealed that despite the condition impacting Reeva’s development, she is continuing to bring joy to everyone who meets her.

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She added: “I knew there was something not quite right but being a first time mam, all of this has been very new to me - even my mam didn’t think anything of it.

“When I found out how rare it was, I was devastated because you always want the best for your baby and you plan a future for them.

“News like this makes you feel like that future has been chucked away but with it being so rare, it makes it harder because there is such a big umbrella of symptoms that could impact her - we don’t know how severe her disability will be.

“She is very delayed in developing, she can’t sit up on her own and it is only in the last few weeks when she has started to roll.

“But despite everything, she brings light to everybody as she is just so happy and is always laughing, which is lovely because I know that she isn’t in any pain.”

Deborah Olsen, Reeva’s grandmother, has set up a Go Fund Me page to help raise some money, which Courtney is going to use to help Reeva access various therapies to help support her development.

Courtney commented: “The money raised is absolutely amazing, I never thought I’d do anything like this because I’m really independent and I’ve always worked.

“But with Reeva’s diagnosis, I’ve had to take some time off work and whilst she gets NHS physio, she needs more intense treatment so that money is a big help towards that.

“I’m looking at things like physiotherapy, hydro-pools, musical therapy, and also things like intense massages - but all these aren’t cheap.

“I know it is my choice to do this but I’m doing it for Reeva because I want her to have an amazing life and do things that other children do.

“I’m not just doing it for her, I’m wanting to raise awareness for other families who might be going through similar genetic conditions - I don’t want people to feel alone.

“That is why I’ve set up a TikTok account to document Reeva’s journey so people know what the money is actually being used for.

“I don’t normally share her on social media but I do need the help now.”

At the time of writing, the fundraising has raised £956 of its £1,000 target - you can view and donate at: https://www.gofundme.com/f/one-in-225-million-help-reevas-journey-with-pitthopkins.

You can also follow Reeva’s journey on TikTok at: https://www.tiktok.com/@rarebutreeva.