All articles tagged with #spinal muscular atrophy
Jesy Nelson, former Little Mix member, shared that her twin daughters have been diagnosed with the severe and rare genetic disorder SMA Type 1, which may prevent them from walking or regaining neck strength. She emphasizes the importance of early treatment and raising awareness, expressing hope for her daughters' future despite the challenges.
Jesy Nelson, former Little Mix singer, shared that her twin babies, born prematurely, have been diagnosed with severe genetic disorder SMA1, which may prevent them from walking. She emphasized the importance of early diagnosis and treatment, and hopes to raise awareness about the condition to help other families.
A five-year-old boy from Colchester with SMA has made remarkable progress after receiving the world's most expensive gene therapy, Zolgensma, which has transformed his mobility and quality of life, highlighting significant advances in treatment for rare genetic conditions.
Marshall Bowling, a 14-month-old boy diagnosed with spinal muscular atrophy, received a breakthrough gene therapy at Akron Children’s Hospital, allowing him to go home after a prolonged hospital stay. The $3 million therapy was covered by insurance, but Marshall faced subsequent health challenges, including a collapsed lung and a virus. Shortage of home nursing care posed a challenge, but Marshall's emotional "clap out" marked his departure from the hospital, bringing joy and relief to his family and caregivers.
Patients with spinal muscular atrophy (SMA) who received the gene therapy Zolgensma are increasingly requiring additional drugs, raising questions about the long-term effectiveness and value of high-cost gene therapies. While Zolgensma has shown positive results for many patients, a significant number have needed supplementary treatments to achieve desired outcomes. This challenges the perception that gene therapies can provide a complete cure and raises concerns about the justification of their exorbitant prices. The experience with Zolgensma highlights the need for further research and real-world data to determine the true value and cost-effectiveness of gene therapies.