Latest news with #SMA
BBC News
a day ago
- Health
- BBC News
'Fragile' girl's life transformed after rare condition caused her to stop eating
A 'fragile' girl's life has been transformed thanks to "caring and loving" staff at a 12, from Salisbury, Wiltshire, has a rare life-limiting muscle wasting condition called Spinal Muscular Atrophy (SMA), which prevents her from House children's hospice came to the family's aid in 2023 after Ellie took to her bed, dropped out of school and expressed suicidal mother Beth said: "They just came in and gave us a chance to heal a bit. Cope a bit. Relax a bit. We were given this 360 care and love from people that were so gentle with us when we were so damaged." The family are sharing their story during Children's Hospice Week, which runs until Sunday, to raise awareness and funds for local parents first noticed their daughter might be unwell when she stopped crawling at nine months testing showed that Ellie had SMA Type 2. The condition is life-limiting, affecting her muscles, swallowing and period after the diagnosis was "absolutely awful", Beth said."I was searching for a cure anywhere I could. We were just desperate – we were like frightened children," she can still use her lower arms and hands to write, but is unable to stand independently or walk as her upper thigh muscles have weakened. "While she does physically struggle, it's Ellie's confidence and sense of identity that's damaged the most," said Beth. "She still very much cries because she can't go on a climbing frame and do things like other children. Her mental health is massively affected." 'Very fragile' In 2023, Ellie took to her bed on and off for about six months. She stopped eating, dropped out of school and told her parents she did not want to live. "It was an incredibly scary time for us and for her."But that was luckily the year that we discovered Julia's House, and things changed massively."Being around other children who are in wheelchairs or know what it's like to have a complex condition has also been phenomenal for Ellie. She has developed some really special friendships because of Julia's House."She added that all of Julia's House nurses, play worker and counsellor helped Ellie through her "very fragile mental health condition". 'Enormous strain on parents' Mike Bartlett, the charity's chief executive, said that Ellie's case proved how important it was to support parents, as well as children."Looking after a very poorly child puts an enormous strain on parenting. Research shows that many parents looking after seriously ill children suffer ill health themselves," he it is becoming more difficult for the charity to provide its services, due to the economic climate, he added."The problem is the costs have gone up, the cost of providing care, staffing, energy bills, inflation all have a pressure on our bottom line and it's getting harder and harder to fundraise," he said.
The Hindu
a day ago
- Health
- The Hindu
Newborn being treated for spinal muscular atrophy before symptoms set in
In perhaps a first in the country, a newborn found carrying the SMN1 gene mutation for Spinal Muscular Atrophy (SMA) through prenatal genetic screening is being administered presymptomatic treatment for SMA at the SAT Hospital here, thus minimising the infant's potential for future neuron damage. The infant, who is hardly three weeks old, is being administered presymptomatic treatment using Risdiplam, one of the rare disease-modifying drugs currently available for SMA, so that the infant will get the benefit of early initiation of treatment. This is a rare and very crucial step forward for the State in the management of rare diseases. SMA refers to a group of hereditary diseases that affect motor neurons, which are the specialised nerve cells in the brain and spinal cord that control movement of the body as well as skeletal muscle activity. The disease is currently not curable, even though several treatments have been developed for SMA that preserve motor neurons and improve muscle function to extend lives. In SMA, treatment early in life tends to provide more benefits. However, early diagnosis is fraught with many challenges. Most cases of SMA occur when the affected gene is passed down from the individual's parents. In this case, the mother is an SMA patient and through pre-natal diagnostic tests, it had been detected that the foetus was carrying the gene mutation associated with SMA. Though termination of pregnancy was an option, the woman chose to have the baby. Used in the West 'We do not normally get to diagnose SMA early before symptoms set in. Here, because of prenatal screening, we got a chance for early intervention and we thought we will try presymptomatic treatment, a protocol that is now being used in the West with very positive results,' V.H. Shanker, who heads the Genetics Centre at SAT Hospital said. The therapeutic time-window to treat SMA is narrow and early treatment, before the symptoms set in, improves motor function and outcomes. Early initiation of treatment with Risdiplam minimises motor neuron damage and maximises the potential for motor development, according to medical literature. Expensive drug 'SMA has no cure and presymptomatic treatment offers no guarantee that the child will not later develop the disease. However, the timing of the treatment is crucial and we hope that the infant will get the benefit of early treatment and that neuron damage can be minimised or prevented,' Dr. Shanker said. Health Minister Veena George said this was a rare opportunity for the State to potentially save at least one child from the debilitating disease. The State government is already giving Risdiplam, which is prohibitively expensive, to some 100 SMA patients for free, under its KARE (Kerala Against Rare Diseases), the State's initiative to devise a comprehensive care strategy to prevent and manage rare diseases.
Time of India
2 days ago
- Health
- Time of India
Advanced pre-symptomatic treatment for spinal muscular atrophy provided in Kerala, first in India
Thiruvananthapuram: For the first time in India, pre-symptomatic treatment to an infant, diagnosed with spinal muscular atrophy (SMA) within days of birth, was provided in Kerala, marking a significant step in rare disease treatment. Tired of too many ads? go ad free now The pre-symptomatic treatment, which was highly effective in the USA and Canada, was successfully conducted in the state. The second child of a woman from Thiruvananthapuram received the expensive drug Risdiplam for free. Health minister Veena George congratulated the entire team for delivering world-class advanced treatment, setting an example for the nation. The inability to identify genetic disorders and their risk factors early often poses a challenge for SMA treatment. However, with pre-symptomatic treatment, medication for SMA can be administered during pregnancy or within days of birth. This approach allows children to achieve 100% normal growth. The woman, also affected by SMA, sought govt assistance to save her unborn child after understanding the risk. George instructed the child health nodal officer to take necessary action. Treatment was then ensured at SAT Hospital, Thiruvananthapuram. A specialised committee assessed each stage of the pregnancy to determine treatment based on the severity of the condition. Genetic counselling and adherence to protocols from similar cases in developed countries were part of the treatment process. "When both parents carry the defective SMA gene, there is a 50% chance that each of their children could inherit the disease. Studies show that in India, there is a possibility of one child being diagnosed with this disease for every 7,000 births," said an official statement. Tired of too many ads? go ad free now To ensure comprehensive care for children with rare diseases, a special scheme was formulated in 2024, marking a first in India. Govt's policy "Diseases may be rare, but care should not be" led to the launch of CARE project. Through this initiative, over 100 children affected by rare diseases, including SMA, receive expensive medications and corrective surgeries for spinal curvature free of cost.
Time of India
2 days ago
- Health
- Time of India
16cr gene therapy starts on 16-month-old girl
Kolkata: A 16-month-old girl received a second chance at life on Wednesday when doctors at Peerless Hospital administered doses of the world's most expensive gene therapy medicine, which travelled approximately 13,000 km from California. Tired of too many ads? go ad free now Ashmika Das from Ranaghat became the first child in eastern India to receive the Rs 16-crore medicine for Spinal Muscular Atrophy (SMA) Type 1 through crowdfunding. Parents Subhankar and Laksmi Das are hopeful that their only child will lead a quality life. The child was diagnosed with SMA Type 1, a rare and often fatal genetic disorder, when she was only six months old. It is a progressive condition that weakens the muscles and causes respiratory failure. "We travelled as far as Vellore and Bangalore to try our luck for a cure, only to come back to Kolkata. Our world collapsed, but we did not give up. The support we received from strangers, communities, and people we've never met restored our faith. Our daughter got a second chance because people cared," said the father, who works as a web designer. The drug, called Zolgensma, is a one-time gene therapy that costs over Rs 16 crore. The drug manufacturer also helped with their Early Access Programme to make the drug available when Rs 9 crore was raised through crowdfunding, on compassionate grounds. Paediatrician Sanjukta De and her team, including Subhransu Sekhar Sarkar, who are working on children with rare diseases, heaved a sigh of relief after the child was administered the gene therapy. The team is assisting a few more cases of SMA 1, like Hridika Das, a toddler, in documentation for crowdfunding and coordinating with the manufacturers so that these children receive the therapy as and when funds are ready. Tired of too many ads? go ad free now "If this gene therapy is given within two years of age, children with this rare disease can lead a quality life. Otherwise, they do not live long and mostly die of choking, respiratory failure, and pneumonia. We already lost a few children while waiting for funds," said De. De and her team currently have four children waiting for funds for the gene therapy. "Caring for children with this rare disease requires compassion and perseverance. Kudos to the paediatrics team who are not giving up despite the challenges. The management will support this effort," said Ravindra Pai, managing director of Peerless Hospital, Kolkata.
Gulf Today
4 days ago
- Gulf Today
Sharjah museums invite young explorers to join summer camps
Sharjah Museums Authority (SMA) is inviting young explorers to dive into a summer of creativity, discovery, and fun through its 2025 Summer Camps, held across five of its most popular museums throughout July and August. The engaging programmes are part of SMA's commitment to nurturing children's curiosity and creativity while offering enriching experiences that help them learn, play, and grow. All camps run from 9:00 AM to 12:30 PM and due to limited spots, early registration is recommended. At Sharjah Archaeology Museum, the first national museum dedicated to archaeology and the first museum to be established in the Emirate of Sharjah. Children aged 7 to 9 can travel back in time through the camp titled 'My Ancestors' Professions, Shaping My Future.' Taking place from July 14 to 17 and again from July 21 to 24, the programme introduces young participants to ancient trades such as farming, pottery making, hunting, and trading. With hands-on activities and fun workshops, children will connect with the roots of early civilisation while imagining how these professions still influence life today. At the Sharjah Museum of Islamic Civilisation, one of the region's most unique museums, attracting those interested in Islamic history, science, culture, and art. It houses more than 5,000 artefacts displayed. Children aged 10 to 12 can join 'Creating with Our Own Hands' from July 14 to 24. This imaginative programme takes children through artistic workshops exploring colours, mosaics, stone art, woodwork, weaving, and the intricate decoration of traditional swords and daggers. Through these activities, children will gain an appreciation for Islamic heritage and craftsmanship while working together in teams. Over at Sharjah Aquarium, UAE's first and largest governmental marine education centre, where visitors can discover a wide variety of fascinating marine species. Children aged 9 to 12 can take part in an underwater journey like no other from July 28 to Aug.7. Led by marine experts, this camp offers a close-up look at local fish, coral reefs, and rare marine creatures. The programme aims to raise awareness about marine biodiversity and the importance of protecting aquatic ecosystems, with interactive learning and real-time observation adding to the excitement. For science-loving children, Sharjah Science Museum, one of the most interactive and engaging science museums in the UAE, designed to ignite curiosity and scientific imagination among children and youth. Week one, from July 28 to 31, is designed for children aged 7 to 9 and features workshops such as Colour Factory, Melodies and Sounds, and Little Chef. Week two, from Aug.4 to 7, welcomes children aged 10 to 12 for a thrilling schedule including space exploration, hands-on chemistry experiments, artificial intelligence activities, and a perfume-making session. The camp's fun challenges and practical workshops are all aimed at sparking scientific thinking and problem-solving skills. Meanwhile, Sharjah Maritime Museum is hosting 'Maritime Adventures' from Aug.4 to 14, welcoming children between 6 and 12 years old. Sharjah Maritime Museum, the first of its kind in the UAE, showcases over 670 artefacts that trace back more than 7,000 years of maritime heritage. The museum offers unique insights into the rich seafaring traditions of the UAE, and Sharjah in particular. This exciting camp dives into the UAE's rich seafaring past, guiding children through the world of marine exploration, historic trade, and traditional boats. Participants will experience a live fishing session, learn about fishing tools and types of fish, sample delicious traditional Emirati dishes, and create their own scented herbal candles as special souvenirs. Sharjah Museums Authority is proud to offer these summer camps as a central part of its ongoing mission to provide inclusive, engaging, and educational experiences for the community. WAM
