WHEN Jenna Whyman gave birth to little twins Raffy and Siddy she was excited to mark each and every milestone her gorgeous sons met.
Just three months into their lives though, Jenna, 36 and her partner Steve, 39, from Essex, noticed they weren’t where they should be.
The pair would struggle to hold their heads up and couldn’t roll or sit unaided.
After seven months, things didn’t improve and speaking to The Sun, mum Jenna said she knew something wasn’t right.
Swim instructor Jenna saw GP after GP before finally being told her little ones were suffering with Spinal Muscular Atrophy type 1 (SMA 1).
This is a rare progressive neuromuscular genetic disease that, if left untreated, is fatal before the age of two.
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Little Raffy and Siddy now 15-months-old need special physiotherapy and equipment to treat the condition so they can have the best chance at life.
The twins were born on April 12, 2021, and at seven months Jenna called local health teams and explained her worries about their development.
But she was told doctors would sort everything out at their 12 month checks, so Jenna held on.
With each health visit, the mum became more and more frustrated.
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She said: “Each visit ended with the same outcome – being told that they would catch up, they were lazy because they are twins and I was told I was ‘just being neurotic’.”
However, during their one year check-up, which the twins had at 10 months, Jenna was told she was right to be concerned and a referral was made to the GP, which Jenna says she had to battle for.
“Eventually I saw a really nice GP that I hadn’t seen before and they gave me a referral to the paediatrics department.
“It was really overwhelming, I had gone from people fobbing me off to being rushed through for genetic testing.”
While she waited for test results, the anxious mum said she started to Google the symptoms her little ones were displaying.
“A lot of results for cerebral palsy were coming up and I’d never heard of SMA.
“I’m usually a very resilient person but I started to develop panic attacks.
“Doctors were testing them for life-limiting conditions and once you hear that, it’s all you can think of.”
Three weeks after initially having the tests done, the family were then called back in, on the day of the twins’ first birthday.
What is Spinal Muscular Atrophy type 1?
Spinal muscular atrophy 1 is also known as Werdnig Hoffmann disease.
Symptoms, including muscle weakness, lack of motor development and poor muscle tone, generally develop before the child reaches six-months-old.
Children affected are not able to sit up or stand, with most not expected to survive past two-years-old.
To inherit the condition, the parents of the child usually each carry one mutated copy of a gene.
Around one in 10,000 babies born are affected by a type of SMA
The family had plans for a day out at the Sea Life Centre in Southend and were having their friends around to celebrate with some cake.
Medics told the family to come in after the day out, which Jenna refused to do.
“I’m glad I said no, we had a blissful day out and I felt it was heartless of the hospital to give us the diagnosis on that day. I knew a day wouldn’t make any difference.”
When they went to the appointment, the family were told the boys had SMA.
Jenna said that while they explained it to them, they were also given a piece of paper about the condition to read at home.
“It was awful to read,” Jenna said.
STAY POSITIVE
The twins were referred to Great Ormond Street Hospital (GOSH) for treatment and Jenna said the team there have been so supportive.
“Not just for the children, but for me too. Since they’ve been there I've had no panic attacks.”
The twins have had Gene Therapy provided by the NHS and were awarded a drug – zolgensma – through a panel.
They have been attending GOSH on a weekly basis for their bloods which is standard procedure.
Jenna added: “They will continue to attend gosh for bloods until they are completely off steroids. The steroids are lowered when their liver enzymes and platelet levels return to a normal range. It's a long, slow process of weaning their bodies off the steroids.”
Zolgensma works by targeting the root cause of SMA by replacing the function of genes with a working copy.
It’s a new drug which is helping – but the boys still have mobility issues.
Jenna said: “We are trying to stay positive. We have a little girl, Marnie, 4, and this has also had a huge impact on her.
“We have to carry on, my children need me,” she added.
In order to make the boys’ lives as easy as possible, the family are fundraising for physio and hydrotherapy.
“The NHS has been amazing, but funding is limited for any disability.
“The kids have weekly physio at the moment which is costly.”
Before the team at GOSH stepped in, Jenna said the family were having to pay to get from their home in Benfleet to Central London.
The family are now trying to raise £30,000 to help cover the cost of treatment.
Trust your instincts. Keep pushing and fighting
This would include both physiotherapy and hydrotherapy – which costs around £70 for each child, for each session – equating to £7,280 each year if they attend just once a week.
Hydrotherapy on top of that would be an additional £600 a month.
The family will also need to make modifications to their home, such as a ground floor extension so they can have both a downstairs bedroom and a wetroom.
This is because as they get bigger – their parents will no longer be able to carry the boys up the stairs.
For other parents worried about their children, Jenna said you just need to keep pushing for answers.
“Trust your instincts. Keep pushing and fighting.
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“Those medical professionals can’t always make a thorough assessment in a ten minute appointment,” Jenna added.
So far they have raised over £20,000, you can donate through their GoFundMe page.
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