Imagine being told you might not reach your second birthday. That's the harsh reality for many babies born with Spinal Muscular Atrophy (SMA), a muscle-weakening disease. But here's a story of defying the odds.
Singer Jessy Nelson's revelation: This week, singer Jessy Nelson shared that her twin daughters have been diagnosed with SMA type one. And in a powerful move, she's advocating for all newborns to be tested for SMA at birth, a critical time to prevent irreversible damage to the nervous system.
Ben Morris' personal journey: BBC journalist Ben Morris, who has SMA, opens up about his experience. He recalls his parents' initial concerns when they noticed his delayed development at six months old. After a series of tests, a neurologist diagnosed him with SMA type two on October 15, 2001, and predicted he might not live past two years old.
The impact of SMA: SMA significantly affects the respiratory system, making common winter illnesses potentially life-threatening for babies. Morris' family received support from a charity, and he found comfort in connecting with others living with SMA.
Defying expectations: Despite the initial prognosis, Morris is now 25 years old, working as a journalist, and living independently with assistance. He uses an electric wheelchair and a ventilator overnight, and takes a daily drug, Risdiplam, to manage his condition.
The importance of early testing: Morris emphasizes the importance of early testing and treatment. Gene therapy with Zolgensma can help restore the missing SMN protein in SMA, but it's only effective when given to newborns due to its impact on the kidneys.
SMA by the numbers: According to NICE, SMA affects approximately one in 14,000 births globally, with an estimated 47 cases in the UK in 2023, 60% being type one. Currently, between 683 and 1,366 people in the UK live with SMA.
Living with SMA: Morris shares how his family managed his care, with his father coordinating various support services. He attended a mainstream primary school with a teaching assistant and participated in all aspects of school life. Morris has accomplished remarkable feats, including racing at London Stadium, speaking at 10 Downing Street, and earning a journalism degree.
Hope for the future: Nelson's twins have a promising outlook, as treatments for babies with SMA have advanced. There are numerous success stories of individuals living fulfilling lives with SMA, proving that it's possible to thrive despite the challenges.
Controversy and discussion: While early testing and treatment are crucial, some may argue that the focus should be on finding a cure for SMA. What do you think? Is early intervention enough, or should more resources be dedicated to curing this rare genetic condition? Share your thoughts below!
