by Amy Skentelbery
A single mum from Latchford in Warrington has been left heartbroken after receiving the news that her 4-year-old son has been diagnosed with a rare condition called Myotonic Dystrophy type 1 (MD1).
Claire Barker has been left devastated after her only child George was diagnosed with one of the two types of Myotonic Dystrophy, an inherited type of muscular dystrophy that affects the muscles and other body systems. It affects most parts of the body including the heart, lungs, eyes and nervous system. The severity of symptoms varies among people with MD1.
MD1 begins in early childhood and typically presents before the age of 10. George went for tests due to behavioural problems and struggles in school.
The first symptoms tend to be more behavioural and cognitive than physical, which is true in George’s case. As the child matures into adulthood, typical features of adult-onset MD1 usually emerge, where serious cardiac rhythm disturbances may occur alongside progressive muscle wasting and weakness.
George attends Cobbs infant school where his mum also works in the link club and kitchen. Due to this rare condition, George struggles to cope in school and has regular breakdowns throughout the day, sometimes the cause of these outbursts is unknown. Days can be a complete disaster for George and very difficult for his mum.
Learning difficulties in various degrees is a common problem for people with MD1. They struggle with attentional deficits, as well as cognitive and behavioural problems. This is why school can be a very difficult place for George, although Claire says the staff do “an amazing job supporting him.”
George wears ear defenders to cope with sound and also needs additional support in the classroom. Aside from these issues, he is a “very lovable and sweet boy” who has an amazing connection with his mum and grandmother due to their hard work and persistence. An “avoidant” or apathetic personality also can be part of the picture, which is why key relationships for George are vital.
People with MD1 have progressive muscle wasting and weakness, although this usually starts in young adulthood. The muscle wasting and weakness develop in their lower legs, hands, neck, and face. Other symptoms include fatigue, muscle pain, difficulty swallowing, clouding of the lens in their eyes (cataracts), and irregularities in the electrical control of their heartbeat.
Life expectancy can be reduced for people with MD1. This is due to respiratory and cardiac (heart) symptoms. An increased risk can be caused by a young age of onset, more severe muscle weakness, and cardiac conduction defects.
There is currently no cure or specific treatment for Myotonic Dystrophy. Treatment is aimed at managing symptoms of the disease. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. Canes, braces, walkers, and scooters can help as muscle weakness progresses. Heart problems associated with Myotonic Dystrophy can be treated through the insertion of a pacemaker, medications, and regular monitoring of cardiac function. Cataracts can be surgically removed.
Although George has just been diagnosed, his mum is anxious about how she will support her child and realises the importance of preparing for the future, as it is a condition that progresses. As soon as possible she would like to get a heart sensor watch so she can start to monitor George’s heart, as this is something that is affected by the condition. He will also need physical and occupational therapy. A physical therapist can teach him exercises to help improve movement and strength and decrease pain.
A go fund me page has been set up to support George and his mum on this journey. The money raised will be spent on a heart monitor watch that can alert his mum to any irregularities, different types of emotional and physical therapy and any equipment that George may need in the future.
You can donate here:
https://www.gofundme.com/f/support-for-george-myotonic-dystophy
