A mum has been left devastated after her newborn baby was given a devastating diagnosis which makes him “forget how to breathe”.
Steph Roberts, 33, and her partner, James, 34, were over the moon when they welcomed their second child, Casper, into the world on 2 December 2021.
But just 12 hours after being born, he was rushed to intensive care and intubated as he had stopped breathing.
For the next four months, the tiny tot had to remain in hospital as doctors tried to figure out what was wrong with him, leaving both Steph and James, from East Sussex, heartbroken.
“To be told your newborn baby isn’t breathing and had to be placed on a ventilator is just absolutely devastating,” Steph, who is the co-owner of the charity, Keep Me Breathing, told NeedToKnow.co.uk.
“Everything was completely normal, the pregnancy, the birth, and then he just suddenly got taken away by a nurse.
“It was when she didn’t return with Casper that reality really sunk in.
“I remember the doctors sitting us down and telling us they had no idea why Casper was unable to breathe, and that it would be a long road ahead for us.
“As a mum, you immediately start thinking of the worst-case scenarios and, unfortunately, in our case I was right.”
Shortly after being intubated, Casper was diagnosed with meningitis, which lead doctors to believe this was why he was unable to breathe.
However, as he began recovering from the infection, it became clear his breathing was not getting any better.
After four months of being in the hospital and having several tests, Steph and James were finally told the devastating truth.
Their little boy had actually been battling neuroblastoma cancer and congenital central hypoventilation syndrome (CCHS) – a lifelong condition which affects normal breathing.
Screening also revealed a mutation in the PHOX2gene, responsible for the
development of nerves early in pregnancy.
This means that the nerves which normally control automatic processes such as breathing aren’t working as they should.
It means that whenever Casper falls asleep, he will be at risk of forgetting to breathe.
Steph said: “Hearing that news was just horrific.
“He is such a happy smiley boy and it is awful to see what he has to go through.
“We were moved to Great Ormond Street Hospital where Casper began his chemotherapy treatment for his cancer.
“We were also told that Casper would not be able to breathe by himself for the rest of his life.
“Because of this, he needs to have a ventilator with him at all times and needs it when he is sleeping.
“All I want is for us to have a normal life with Casper and my other son Max, but I know that can’t happen, and it breaks my heart.”
After nine months of being in the hospital and receiving treatment, Casper was finally discharged from the hospital and was able to go home.
However, he has to be supervised by a nurse every night to make sure he doesn’t stop breathing, which causes Steph extreme anxiety.
Steph said: “I have not had an interrupted sleep since Casper was born.
“Although we have the nurses there, as a mum, I still want to be there for my baby.
“We still have a baby monitor in his room so I can hear out for his crying during the night.
“As his mum, all I want to do is make him better, but I can’t.”
In September 2022, Casper finished his chemotherapy, however, the family recently received the heart-breaking news that his tumours had begun growing again, resulting in more treatment being needed.
However, despite battling such gruelling conditions, Steph says the little boy is her “inspiration” and is the “happiest” child.
Since his diagnosis of CCHS, Steph and James have been on a mission to find and create a device which will help Casper breathe without needing ventilation.
So, within weeks, the pair started a charity to fund the research and development of a pacer, getting in touch with researchers at Cambridge University and setting up a board.
Amazingly, they have already raised £130,000 towards developing the pacer and the first model has now been created.
Steph added: “We are building something that will change people’s lives.
“Hardly anyone knows about CCHS and we want more people to hear about our story, and support us.
“We are putting all of our time and determination into this product because we want to just make Casper’s life better.
“He is now one-and-a-half years old and going to nursery, but he has to go
in with a carer and has to take in a lot of kit.
“With this pacer, he wouldn’t need to do that, his life wouldn’t be dependent on a ventilator.
“We have hope that one day, we will be able to change not only our son’s life but all the children’s lives who are suffering with CCHS.”
