‘It’s Rocco’s world and we’re all just living in it’ - The Jewish Chronicle

When Kimberley van der Velde’s fourth child was just a few months old, she could tell that he was not developing like his older siblings. “As a mum, there was something in my gut so deep down and so strong telling me there is something seriously wrong with him,” she says. “He was a floppy baby, who couldn’t hold his head up, he didn’t move his legs, they were frog-shaped and bent inwards.” She was right. Her son Rocco was diagnosed with Spinal Muscular Atrophy Type 1 when he was four months old.

SMA is a progressive muscle-wasting condition and is the most common genetic cause of infant death. It has made national headlines recently, after a series of candid interviews from former Little Mix star Jesy Nelson, whose twin daughters have both recently been diagnosed with the condition – after “the most gruelling three, four months, and endless appointments”, she says in a video posted to her Instagram.

Pop star Jesy Nelson, who recently revealed that her twin baby girls have SMA (Photo: Getty)[Missing Credit]

Similarly, Rocco’s diagnosis was far from straightforward. Despite how early Kimberley spotted symptoms, medical professionals were slow to take her seriously. “I took him to my GP – they said he was a lazy boy who will catch up,” Kimberley tells the JC. “I was completely dismissed to the point that I started to question my own sanity.”

This is especially frustrating for families affected by SMA because the earlier the condition is identified, the more effective all three of the main SMA treatments are – including Spinraza, the drug that Rocco takes, and Zolgensma, which Nelson’s twins have started on. According to SMA UK, “once symptoms appear, motor neuron damage has already occurred and cannot be reversed”, and that irreversible damage only escalates the longer it is left untreated.

That is why Nelson’s television appearances are not solely to raise awareness of the rare disease, but also to campaign for SMA screening to be included in the newborn blood spot test, which is performed usually when a baby in the UK is five days old. The current test checks whether a newborn has any of ten rare but serious conditions; SMA is not among them at present. “I’ve seen children who were diagnosed with SMA as newborns who are living a typically developing child’s life,” Kimberley says. “Instead, children are deteriorating before they get any help.”

It is not like the UK would be a pioneer in this regard either; much of Europe, as well as countries including Ukraine, Qatar, and Taiwan do SMA screening shortly after birth. “They’re saying it’s about cost,” Kimberley says. “But the cost of looking after these children once they’re diagnosed, versus the cost of the heel prick… they should be doing the heel prick all day long.” All in, Rocco’s care and treatment costs over £1 million per year, compared to the projected £4 to £5 cost per baby of adding SMA to the heel prick test.

Dr Shelley Jacobs is a paediatric emergency medicine consultant who has been volunteering for Camp Simcha for over 15 years and recently became the organisation’s medical director. She concurs with Kimberley on including SMA screening for newborns. “It makes perfect sense to me – I don’t know why you wouldn’t include it. It’s a time-critical diagnosis, therefore early screening is really important.”

Rocco with his mum, Kimberley (Photo: Richard Eaton)Richard Eaton

Camp Simcha CEO Daniel Gillis echoes her sentiments, saying: “Jesy Nelson’s brave decision to speak publicly about her twins will, we hope, help raise awareness of this life-changing illness and the huge impact it has on children and their families.”

Indeed, it has already got the attention of Health Secretary Wes Streeting, whose words will hopefully translate into action.

Kimberley’s life, meanwhile, is rarely simple. Rocco’s condition requires her attention day and night. “Our house has turned into a hospital”, she tells the JC. “We had a downstairs bedroom made just for him. We have cough-assist machines, saturation monitors, a suction machine, a specialised bed. He sleeps on a ventilator overnight, with a feeding tube going into his bowel and stomach. There’s a feeding regime and daily medication. I have to fight for him to attend mainstream schooling because SMA does not affect his cognition, find him suitable seating, and know how to check frequently for infection. I’ve had to save his life multiple times. It’s a full-time job in itself.”

Rocco’s four siblings all adore him and help Kimberley as much as they can. “His oldest brother carries him upstairs. His younger sister is his interpreter – she understands everything he says. Having the siblings has made Rocco far more determined to meet goals and surpass expectations.

Rocco with one of his sisters and his mum at a Camp Simcha family fun day (Photo: Richard Eaton)Richard Eaton

“They [her other children] have also become more understanding,” she continues. “I can’t go to everything; I can’t go to their football and rugby matches in the cold as Rocco can’t be there on the side. As horrible as it is, they’ve grown up extremely fast.”

For more than eight years, Camp Simcha has been by Kimberley’s side. The charity provides bespoke support to the entire family and frequently hosts multi-day retreats, bringing fun and joy to the children and a short break from the demands of everyday life for the adults.

“The retreats are my children’s favourite things to go on every year,” Kimberley says. “On one of them, Rocco was rock-climbing in a hoist. How can a child who can’t walk go rock climbing? The volunteers make the impossible possible.”

Dr Jacobs often volunteers at the retreats as the on-site doctor “to be around so that parents can have complete confidence that when their kids are away from them, that they don’t have to worry about their child medically. That’s a huge load off their mind,” she says.

Kimberley is immensely grateful for the ongoing support from Camp Simcha and its volunteers like Dr Jacobs. “They are like a blanket of love, support and care,” she says. “I never want that blanket to be unwrapped.”

Rocco with a Camp Simcha volunteer (Photo: Camp Simcha)[Missing Credit]

Despite all the challenges he faces, Rocco certainly lives his life to the fullest. His Instagram account features him with Arsenal players Kai Havertz and Bukayo Saka, and helping Jim Carrey to direct a scene on the set of Sonic the Hedgehog 3. “It’s Rocco’s world and we’re all just living in it,” Kimberley says.

Thanks to the success of Spinraza, Rocco is one of the oldest SMA Type 1 children in the country. “He’s already outlived his life expectancy,” Kimberley says. “When he was diagnosed, we were told to take him home and love him, because we’ll get a maximum of 18 to 24 months with him. He’s taught me so much, to really appreciate the little things. He gives me so much love and joy.”

Kimberley and Rocco at a Camp Simcha retreat (Photo: Camp Simcha)[Missing Credit]

At one point during Kimberley’s interview with the JC, Rocco comes over to the phone, midway through one of his thrice-weekly physiotherapy sessions, which he has as well as weekly hydrotherapy. Kimberley asks Rocco for the thing he most loves about having SMA, to which he responds: “I love my family and the support I get.” Then she asked what should change about SMA, and Rocco answers: “They should give treatments quicker.”

Indeed, the introduction of at-birth SMA screening in the UK is the much hoped-for outcome of this campaign. “When Jesy said [on This Morning]: ‘I don’t want to be their nurse, I just want to be their mum’, I burst into tears,” Kimberley says. “Nine years later I feel exactly the same.”

To find out more about screening newborns for SMA and the campaign, visit: smauk.org.uk or click here

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Topics:

Camp Simcha

SMA