Mother of baby with spinal muscular atrophy wants all newborns to be tested for it
Chester was eight months old when his parents were finally told the condition that meant he couldn't swallow or move his legs and left him constantly distressed was spinal muscular atrophy, or SMA.
But it's a delay that will have a lifelong impact.
"He still can't hold his head up," said his mum, Kasey Mumford.
"If he'd been diagnosed by the heel prick test at like three or five days old, he could have started medication straight away, because there's a treatment for it, there are three different types of treatment, but there's no cure. He will never not have this."
Chester is nearly one now, but needs a ventilator at night to breathe.
But SMA isn't one of the 10 rare illnesses that newborn babies are currently tested for in the UK, unlike in the US and much of Europe.
Dr Vasantha Gowda, a consultant paediatric neurologist at London's St Thomas' Hospital, says clinicians from other countries are "all shocked that we don't have newborn screening for SMA".
"If we treat these children early, there is a possibility that… they would walk, run, climb, play. They would not need any support for breathing. They would need no support for feeding," she said.
"We know there's a potential to deliver this if the condition is picked up at the earliest possible stage."
SMA causes irreversible loss of motor neurons, which affects muscle function.
Nine out of 10 will either die before they're two or rely on a ventilator for life.
And when 2,000 parents were surveyed recently, 90% said they'd want to know as soon as possible if their child had SMA.
Four in every five wanted screening implemented immediately, and the same proportion considered the £5 cost per test good value.
The lack of testing for the condition is, according to the chief executive of the charity SMA UK, "unethical".
"The new 10-year NHS plan has highlighted that prevention is a key pillar," said Giles Lomax. "Newborn screening for SMA is essentially a very quick and easy win to align to that pillar.
"We've got the treatments there, we've got pathways, we have the expertise, we could make prevention for SMA a thing right now."
New therapies have been developed since SMA was last considered for inclusion, and in 2023, the UK National Screening Committee agreed to review the decision.
A large-scale study is now under way and the different governments across the UK have said they'll be guidedby the advisory body's recommendations.
But Chester's mum is clear that it must be included as "every single second counts" when it comes to receiving treatment.
Instead, for Kasey and her partner, Dylan, there will always be that uncertainty about what might have been had their boy been diagnosed sooner.
Hashtags
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
Telegraph
13 minutes ago
- Telegraph
Heston Blumenthal reveals he's taking weight-loss drug Wegovy
Heston Blumenthal has revealed that he is taking the weight-loss drug Wegovy. The celebrity chef admitted his use of the drug was a 'paradox' as a restaurateur, and warned that its continued use threatened to topple the food industry. The father-of-four said he started taking Wegovy to combat the effects of his bipolar medication after he was diagnosed with Type 1 bipolar disorder in 2023. He said the medication had also caused slurred speech, problems with balance and brain fog. 'I've put on so much weight, but it's starting to come off now,' the 59-year-old said, adding that the semaglutide injections had resulted in him losing 8kg so far. Blumenthal, who has been awarded seven Michelin stars over the course of his three-decade career, also warned the drugs would have an impact on the restaurant industry. He added: 'Wegovy, Ozempic, Mounjaro – you still enjoy food, but they stop appetite. So what's going to happen is people are going to want smaller portions.' He told Times Radio it is 'going to get much worse in the next six months' for the restaurant business, adding that supermarkets would also be affected. The Fat Duck, Blumenthal's three-Michelin starred restaurant, is among the fine dining establishments hit by the decline in appetite, while costs of food, labour and fuel have all increased. He said he was aiming to 'formulate' a plan that might combat some of the losses from its highly profitable tasting menus, which can feature more than 11 courses. Blumenthal, who divides his time between Berkshire and France with his wife Melanie, has previously written in The Telegraph about his 'surprise' bipolar diagnosis. The chef, who presented Channel 4 shows Heston's Fantastical Food and Heston's Feasts, as well as several series of MasterChef in Australia, was sectioned following a manic episode in 2023. He was the subject of BBC documentary Heston: My Life With Bipolar, which was broadcast in June. Discussing food programmes following the BBC's MasterChef fallout involving the former presenters Gregg Wallace and John Torode, Blumenthal said: 'I don't think food programmes are toxic. 'I think that when you do cooking competition shows, you work with a lot of people, and humans are humans. And that means relationship issues happen.'
The Sun
43 minutes ago
- The Sun
I've lost 5.5 stone on Mounjaro but still eat chocolate & get takeaways every week – the truth everyone needs to hear
A WOMAN who has lost 5.5 stone on Mounjaro in eight months has shared the advice everyone needs to hear. La Hauser, from the UK, took to social media to share why you shouldn't be losing weight too quickly on the weight loss jab. 2 La revealed that she was losing 2.7lbs a week on the jab, but was still seeing people online call it a slow loss. But she reckons she has found the key to success on the injection, and it still allows her to eat takeaways. She wrote: "I started in January and have lost an average of 2.7lbs per week. "I've lost 5 and a half stone in total. I still have a few stone to lose to be at the weight of my preference. "There are so many posts where people are saying they are disappointed they have only lost 3 pounds and their mate lost 3 stone in the first week." Instead, La said those on their weight loss journey should concentrate on being consistent, rather than how much they are losing. She even revealed that by going for a slower approach, she was still able to enjoy sweet treats and takeaways while shifting the weight. She continued: "Don't compare to others. Focus on your journey. Focus on what makes you feel joy. "I eat a takeaway/restaurant meal every week. I eat chocolate every day, but I track every calorie so I know I'm still focused even when it's an unhealthy option." The less is more approach is obviously more sustainable than depriving yourself of everything, like a crash diet, so you stay consistent even without the drug. "Don't deprive yourself as you're in it for the long haul, make it sustainable, make it enjoyable," she added. The post was shared on the Facebook group, mounjaro ozempic wegovy weight loss support, and was a hit with other members. One person wrote: "I totally agree! Keep up the good work - been on for almost 2 months - lost 16. I'm pleased." Another commented: "Well said and well done." "Great advice," penned a third. What to do if you lose too much weight too quickly whilst on Mounjaro IF you're losing too much weight too quickly while on Mounjaro, it's important to take action to avoid potential health risks like muscle loss, malnutrition, dehydration, and fatigue. Here's what you can do: Evaluate Your Caloric Intake Mounjaro reduces appetite, which can make it easy to eat too little. If you're losing weight too fast (more than two to three lbs per week after the initial adjustment period), try: Tracking your food intake to ensure you're eating enough calories (apps like MyFitnessPal can help). Increasing protein intake to preserve muscle mass (aim for 0.6–1g per pound of body weight). Adding healthy fats and complex carbs (e.g., avocados, nuts, whole grains) for balanced energy. Adjust Your Dosage (With Doctor's Approval) If your weight loss is too rapid or causing side effects, your doctor may: Pause dose increases or lower your dosage. Adjust your treatment plan to stabilise your weight loss. Strength Training & Exercise To prevent muscle loss: Incorporate resistance training at least two to three times per week. Stay active with low-impact exercises like walking or yoga. Hydrate & Manage Electrolytes Drink enough water (Mounjaro can reduce thirst). Electrolytes matter - Consider adding magnesium, sodium, and potassium if you feel weak or fatigued. Monitor for Malnutrition & Deficiencies Rapid weight loss can cause vitamin/mineral deficiencies (especially B12, iron, and electrolytes). If you experience: Fatigue, hair loss, or dizziness, ask your doctor about supplements. Consider Further Medical Guidance If your weight loss is excessive or causing health concerns, speak with your healthcare provider. They might adjust your dosage, diet, or exercise plan to help stabilise your weight loss. Meanwhile a fourth said: "Totally agree." "Well done, looking great,' claimed a fifth
Daily Mail
an hour ago
- Daily Mail
American abortion pioneer dies in UK hospital aged 93 after being sectioned due to dementia, inquest hears
An American abortion pioneer died in the UK aged 93 after being sectioned due to dementia, an inquest has heard. Dr Horace Hale Harvey III, born in New Orleans in December 1931, opened one of the first independent abortion clinics in the US in July 1970. The clinic, called Women's Services and located in Manhatten, New York, provided safe and affordable abortions for women after after New York reformed its laws. Prior to the opening of his transformative clinic, the medical doctor, who had a Ph.D in philosophy, had been performing illegal abortions in New Orleans. He also became a preferred provider of the Clergy Consultation Service on Abortion, a network of ministers and rabbis who confidentially referred women to medical professionals with a reputation of providing safe terminations. In 1972, Dr Harvey moved to the Isle of Wight where he worked for public health services before relocating to Dorset after his house burnt down in 2014. The innovative physician was said to have chosen the small UK coastal isle as 'according to his research, it had the highest average temperature and received more hours of sunlight than anywhere else in England'. He died in Dorchester on February 14 of this year due to complications from a fall, his daughter Kate Harvey revealed. An obituary by the New York Times described Dr Harvey as an abortion provider who had sought to 'combat what he felt was an epidemic of unsafe abortions at a time when unmarried women were denied access to contraceptives, and when comprehensive sex education was discouraged'. Meanwhile, Arlene Carmen and the Rev. Howqard Moody previously described Dr Harvey as having a 'unique style' with an 'imagination to provide extras that no other "illegal" abortionist would have even considered'. He was said to have provided fizzy drinks and cookies to patients after the procedure, alongside decorating the operating room with bright colours. Prior to the implementation of Roe v. Wade legislation, Dr Harvey's office was known to be one of the most important abortion clinics across the US, operating seven days a week. After moving to the UK in the early 1970s, Dr Harvey resumed his philosophy studies and even showed up for classes at the University of Cambridge, despite not being enrolled as a student at the prestigious institution. A catastrophic fire destroyed the home that he had previously shared with his former wife, Helen Cox, and their two children, eventually prompting the move to Dorset. In a statement read to the Bournemouth inquest, Kate said that her father was 'very determined' to keep healthy by walking a mile and doing 20 squats each day. She added that her father, who was 'committed to Aristotelian ethics and scientific learning' also 'enjoyed laughter and making up jokes', alongside activities such as dance, table tennis and snooker. Dr Harvey was sadly found dead in his bed at Dorset County Hospital, Dorchester (pictured) on February 14. A Bournemouth inquest heard that in late 2024, Dr Harvey was diagnosed with Alzheimer's and PTSD following a catastrophic fire at his home 10 years prior The inquest heard that in late 2024, Dr Harvey was diagnosed with Alzheimer's and PTSD after the house fire 10 years earlier. On January 22 this year, he was taken to Dorset County Hospital having suffered a rib fracture due to a fall at home. Due to physiotherapists' concerns at Dr Harvey's ability to understand care instructions, he was later assessed by psychiatrists and detained under the mental health act. Coroner Richard Middleton said that Dr Harvey was increasingly experiencing delirium and paranoia. Dr Harvey was sadly found dead in his hospital bed in the early hours of February 14. A post-mortem examination found his cause of death to be schaemic heart disease and coronary artery disease. Recording a conclusion of death by natural causes, the coroner explained that the inquest had to be held by law because Dr Harvey was formally detained by the state at the time of his death. Mr Middleton added: 'I express my deepest condolences to all of Dr Harvey's family and friends for their loss.' Dr Harvey is survived by his daughter Kate, son Russell and three grandchildren.
