WHEN Jenna Whyman gave birth to baby twins Raffy and Siddy, she was thrilled to mark every milestone her beautiful sons reached.
However, just three months into their lives, Jenna, 36, and her partner Steve, 39, from Essex noticed they weren’t where they should be.
The pair reportedly struggled to hold their heads up high and couldn’t roll over or sit up unaided.
After seven months things haven’t improved and speaking to The Sun, mum Jenna said she knew something was wrong.
Swim instructor Jenna saw GP after GP before learning her little ones had spinal muscular atrophy type 1 (SMA 1).
It is a rare progressive genetic neuromuscular disease which, if left untreated, is fatal before the age of two.
Little Raffy and Siddy, now 15 months old, need special physiotherapy and equipment to treat the condition so they can have the best chance of life.
The twins were born on April 12, 2021, and at seven months Jenna called local health teams and explained her concerns about their development.
But she was told the doctors would sort everything out during their 12-month check-ups, so Jenna stuck it out.
With each medical visit, the mother grew more and more frustrated.
She said: “Every visit ended with the same result – they were told they would make it up, they were lazy because they are twins and I was told I was ‘just neurotic’. “
However, at 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, for which Jenna says she had to fight.
“Eventually I saw a very good GP who I had never seen before and they referred me to the pediatric ward.
“It was really overwhelming, I had gone from people pushing me away to being rushed for genetic testing.”
While awaiting test results, the anxious mum said she had started Googling the symptoms her little ones were showing.
“A lot of results for cerebral palsy were coming in and I had never heard of SMA.
“I’m generally a very resilient person, but I started to develop panic attacks.
“Doctors were testing them for life-limiting conditions and once you hear that, that’s all you can think of.”
Three weeks after initially carrying out the tests, the family was then called back, on 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 low muscle tone, usually develop before the child reaches six months of age.
Affected children are unable to sit or stand, and most are not expected to survive to the age of two.
To inherit the disease, the child’s parents usually each carry a mutated copy of a gene.
About one in 10,000 babies born is affected by some type of SMA
The family had planned a day at the Sea Life Center in Southend and were having their friends over to celebrate with cake.
The doctors told the family to come after the day, which Jenna refused to do.
“I’m glad I said no, we had a wonderful day and I felt the hospital didn’t have the heart to give us the diagnosis that day. I knew a day wouldn’t make a difference.
When they went to the appointment, the family was told that the boys had SMA.
Jenna said that while they were explaining it to them, they were also given a piece of paper about the condition to read at home.
“It was horrible to read,” Jenna said.
The twins were referred to Great Ormond Street Hospital (GOSH) for treatment and Jenna said the team there were so supportive.
“Not just for the kids, but for me too. Since they’ve been there, I haven’t had any more panic attacks.
The twins received gene therapy provided by the NHS and received a drug – zolgensma – through a panel.
They attended GOSH once a week for their blood, which is standard procedure.
Jenna added: “They will continue to go for blood until they are completely off the steroids. The steroids are lowered when their liver enzymes and platelet levels return to a normal range. It’s a long and slow process of weaning their bodies off the steroids.
Zolgensma works by targeting the root cause of SMA by replacing gene function with a working copy.
It’s a new drug that helps – but the boys still have mobility problems.
Jenna said: “We try to stay positive. We have a little girl, Marnie, 4, and it’s had a huge impact on her as well.
“You have to continue, my children need me,” she added.
In order to make life as easy as possible for the boys, the family raises funds for physiotherapy and hydrotherapy.
“The NHS has been amazing, but funding is limited for any disability.
“Kids have weekly physio at the moment, which is expensive.”
Before the GOSH team intervened, Jenna said the family had to pay to travel 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 cost around £70 per child, for each session – equivalent to £7,280 a year if they only attend once a week.
Hydrotherapy on top would cost an additional £600 per month.
The family will also need to make modifications to their home, such as a downstairs extension so they can have both a downstairs bedroom and a shower room.
Indeed, as they grow up, their parents will no longer be able to carry the boys up the stairs.
For other parents worried about their kids, Jenna said we just have to keep looking for answers.
“Trust your instincts. Keep pushing and fighting.
“These medical professionals can’t always do a thorough assessment in a ten-minute appointment,” Jenna added.
So far they’ve raised over £20,000, you can donate via their GoFundMe page.
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