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previous little mix Star Jesse Nelson Shared the news of the tragic deaths of her twin daughters, Ocean Jade and Story Monroe Nelson-Foster. Diagnosed with Spinal Muscular Atrophy Type 1 (SMA)a rare genetic disease may prevent them from walking.
The 34-year-old singer, In May of this year, he and his fiancé Zion Foster welcomed twins ahead of schedule. Emotionally revealed the diagnosis Instagram Sunday’s video details the “grueling three/four months” that led to the discovery.
Nelson explained that after an “endless” series of appointments, her daughters were confirmed to have “a severe muscle disease called SMA Type 1.” She emphasized the urgency of treatment, noting that “with this disease, time is of the essence.”
Review forecasts great ormond street At the hospital, Nelson shared the heartbreaking reality: “We were told they might never walk, they might never regain the strength in their neck, so they were going to be disabled, so the best we could do right now was get them into treatment and just hope for the best.”
She expressed deep gratitude for the treatment her daughters received, acknowledging that “if they had not been treated, they would have died,” but also noted the brutality of their medical journey and feeling that “the hospital has become my second home.”
To shed light on this challenging situation, the Press Association spoke to Giles Lomax, chief executive of Spinal Muscular Atrophy UK (SMA UK), who gave a comprehensive overview of SMA, its various types and key early indicators.
Lomax described SMA as “a rare neuromuscular disease” that affects “one in 14,000 births per year” and is characterized by “general loss of motor function.” He clarified its genetic and hereditary nature, explaining that “there is a one in four chance that your parents inherited a defective SMN1 gene, which means you have SMA.”
There are four main types of SMA, each with different characteristics.
Type 1 is the most severe form and usually appears in babies younger than six months old. Lomax noted that “babies with this condition tend to be very floppy babies with difficulty breathing, coughing, and swallowing” and “tend to never sit down or progress beyond the lying down stage.”
Type 2 usually appears between 6 and 17 months, and affected children are usually able to sit but are unable to stand or walk. They may experience “gross motor development, weakness and difficulty coughing, and may have scoliosis.”
Type 3 is diagnosed in older children who initially follow a normal developmental path but may begin to lose the ability to walk after three years.
The rarest type, type 4, occurs in adulthood (18 years and older) and is usually less severe, but is still a serious condition that can be difficult to diagnose due to possible overlap with other conditions.
While every case is different, Lomax highlighted several key symptoms of SMA type 1. “Weakness” is a big indicator, especially if the baby has difficulty holding his head up or eating. Another common symptom is “belly breathing,” which is breathing more from the belly than from the upper chest.
Additionally, these babies often exhibit “abnormally low muscle tone” in their limbs, meaning “they don’t kick their legs and swing their arms as expected.”
SMA is diagnosed with a blood test to identify the defective SMN1 gene. Lomax emphasized the importance of early detection and treatment, noting that “if babies get blood tests early and receive disease-modifying therapies, in many cases these children can grow up to follow normal developmental pathways.”
However, without treatment, the prognosis for patients with type 1 is grim, with “their chance of surviving past two years very slim.” People with SMA often face multiple health challenges due to weakened muscles, especially breathing muscles.
This leaves them vulnerable to infection as they “also cannot cough”, leading to frequent hospital admissions, particularly in children with type 1 who have difficulty clearing secretions. Living with SMA can have a profound impact on daily life, requiring multiple hospital appointments across a variety of specialties, including occupational therapy, physical therapy and neurology, as well as reliance on equipment such as orthotics, spinal braces, breathing assists, wheelchairs and housing adaptations.
Fortunately, there are three disease-modifying treatments available in the UK. Zolgensma is a “one-time infusion” gene therapy for infants younger than 12 months. Risdiplam is an oral medication that is taken daily for life and is suitable for patients from infancy to adulthood. The third option is Nusinersen, which is injected directly into the spinal cord and requires injections every three to four months throughout life.
Jesse Nelson’s candid revelations highlight the daunting challenges families face when diagnosed with spinal muscular atrophy. While the road ahead for Ocean Jade and Story Monroe will undoubtedly be difficult, the emergence of disease-modifying therapies offers a beacon of hope, changing the outlook for children born with this rare and serious disease.