Baby Oscar inspires mum's fight for routine genetic testing

Isabelle Stone and her partner Joe welcomed Oscar Allan Knowles into the world just before Christmas. 

Just six hours after he was born, the 19-year-old started to notice something wasn’t right.

Isabelle alerted nurses at Calderdale Royal Hospital and the family was later transferred to Leeds General Infirmary, who worked alongside Manchester’s genetics team.

Tests showed Oscar's levels of ammonia were more than 2,000 per cent above normal levels.

Despite Isabelle having a healthy pregnancy, Oscar had a rare genetic disorder known as ornithine transcarbamylase deficiency (OTCD).

Oscar Allan Knowles, pictured (Image: UGC)

“I’d never even heard of it,” said Isabelle.

“When we were told about it, I was like, what on earth is that? I was going crazy, Googling.

“Currently in the UK, the only genetic testing that is done is Edwards Syndrome, Down Syndrome, and Patau's syndrome. 

“A lot of people think that is as far as genetic disorders go. There’s so much that isn’t spoken about.”

Often carried through the maternal line, the condition can have a devastating effect on children born with the condition.

The couple sat by their son’s bedside as he battled for his life while clutching onto a toy octopus.

Oscar with his octopus (Image: UGC)

Oscar - who faced a Urea Cycle Disorder - couldn’t absorb formula and breastmilk in the normal way or process waste products.

In the case of OTCD, this can lead to catastrophic levels of ammonia poisoning his body and brain damage.

Oscar tragically died in early January.

Now, the Liversedge family hopes to ensure no other new parents experience the same heartbreak.

Isabelle holds Oscar in her arms (Image: UGC)

Their petition to fund routine genetic testing for all expectant mothers on the NHS has garnered almost 4,000 signatures so far- it can be viewed by visiting https://bit.ly/genetictestingpetition

“At the minute all my grief I’m just throwing it into getting the petition where it needs to be, raising awareness about it and making sure this change happens.

"In my head, I see it as all the people that are signing a petition is all the people that know about Oscar.

“He doesn’t get the chance to grow up, people aren’t going to know of him through school or friends. This is my way of people knowing who Oscar was and his story. 

Baby Oscar (Image: UGC)

“There’s very hard days, you sometimes think, I don’t want to get up. I don’t know what I would have done without my friends.

"One of my friends got me a bear made with his heartbeat put inside it. Another one of my friends bought me some jewellery. They’ve been there when I need them. They’ve been amazing. Everybody who’s close to me has been amazing.

“There’s a few groups on Facebook, there’s very few because it’s quite rare. It’s been nice to connect with other people. A lot of them are American, Australian. There’s very few British people. It’s been comforting to know you’re not the only person.”

Speaking about how she copes, Isabelle said: “It’s hard to even say because you have to. You don’t have a choice, you have to get up and get on with it. Every day I just think I’m doing everything I’m doing to make Oscar proud. It would be quite easy to say, I can’t do this anymore.”

But support for the petition has been a source of hope for the family.

“It’s amazing,” said Isabelle.

“It was at 2,000 in the first two days. I couldn’t believe it. I was in shock, I was so emotional. I don’t think I stopped crying that day. This is how many people know about Oscar and this is change that’s going to happen in Oscar’s name.

“People don’t know I should have a baby with me. When you go out and see other people with babies I always think, you have no clue I should have a baby with me now.”

In a message to anyone who has lost a baby, she said: “You’re not alone. When Oscar died you feel like the only person in the world. The most important thing I’ve done is talking about Oscar.

"That’s my way of healing. It gets to a point you can talk without crying. Don’t feel guilty for feeling better. It’s a good thing you can talk about your baby or child without crying.

"Everybody grieves differently. Don’t let anybody tell you what’s right or wrong. Everybody’s situation is different.”