Former Little Mix singer Jesy Nelson has shared a heartbreaking health update concerning her twin babies, revealing they have been diagnosed with a serious genetic condition that will prevent them from walking.
Understanding the Diagnosis: What is Spinal Muscular Atrophy?
The star confirmed her children are living with Spinal Muscular Atrophy (SMA), a rare and incurable disorder. This disease attacks the motor neurons located in the spinal cord, which are responsible for sending signals from the brain to the muscles. The result is progressive muscle wasting and profound weakness.
For Jesy Nelson's family, this means her twins face a future where they will never achieve the milestone of walking independently. The condition, while devastating, has seen significant medical advances in recent years that are changing outcomes for many children.
The Cause and Impact of SMA on the Body
At a genetic level, SMA is caused by a deficiency of a crucial protein known as Survival Motor Neuron (SMN). Most individuals inherit two working copies of the SMN1 gene, which produces this protein. People with SMA, however, have two altered or missing copies, leaving their bodies unable to produce enough SMN to maintain healthy motor neurons.
Without these nerve signals, muscles are not used and begin to shrink, a process known as atrophy. The primary symptom is muscle weakness, typically starting in the core muscles of the shoulders, hips, and thighs.
Key Symptoms and Progression
As SMA advances, it leads to several serious complications:
- Respiratory issues: Weak chest muscles make breathing difficult and increase the risk of frequent lung infections.
- Feeding difficulties: Weakness in the jaw and throat can make swallowing dangerous, often necessitating a feeding tube.
- Scoliosis: Weakening back muscles can cause the spine to curve, further impairing breathing capacity.
Types of Spinal Muscular Atrophy
The condition is categorised into types based on when symptoms first appear and the physical abilities achieved:
Type 1 (Werdnig-Hoffmann Disease): This is the most severe and common form, usually diagnosed before a baby is six months old. Infants struggle to lift their head, swallow, or breathe without support.
Type 2: Onset occurs between 6 and 18 months. Children can usually sit without help but cannot stand or walk independently.
Type 3 (Kugelberg-Welander Syndrome): Diagnosed after 18 months, children can walk but may experience increasing mobility problems, like frequent falls.
Type 4: This rare adult-onset form appears after age 20 or 30, causing mild to moderate muscle weakness.
A New Era of Treatment and Hope
For many years, a diagnosis of Type 1 SMA was considered terminal, often before a child's second birthday. The landscape has transformed dramatically with recent medical breakthroughs. While not cures, these treatments can halt disease progression and, if given early, allow children to reach milestones once thought impossible.
The main treatments now available include:
- Zolgensma: A one-time gene therapy infusion that replaces the faulty or missing SMN1 gene.
- Spinraza (Nusinersen): A medication injected into the spinal fluid that helps a backup gene, SMN2, produce more functional protein.
- Evrysdi (Risdiplam): A daily oral liquid that also works by boosting protein production from the SMN2 backup gene.
These therapies represent a beacon of hope for families affected by SMA, offering the chance to stabilise the condition and improve quality of life significantly.
