Most importantly a power wheelchair and the advance payment for a wheelchair assessable van which will be able to make Draven’s life a lot more independent and comfortable now and as his condition further deteriorates.
What is DMD? Duchenne muscular dystrophy (DMD) is an X-linked recessive form of muscular dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and premature death.
This disorder is caused by a mutation in the gene dystrophin, located on the human X chromosome, which codes for the protein dystrophin. Dystrophin is an important component within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane. While both sexes can carry the mutation, females are rarely affected.
Symptoms usually appear in boys between the ages of 2 and 3 and maybe visible in early infancy. Even though symptoms do not appear until early infancy, laboratory testing can identify children who carry the active mutation at birth. Progressive proximal muscle weakness of the legs and pelvis associated with loss of muscle mass is observed first.
Eventually, this weakness spreads to the arms, neck, and other areas.
Early signs may include pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, and difficulties in standing without help or an inability to walk upstairs. As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue (fibrosis).
By age 10, braces may be required to aid in walking but most patients are wheelchair dependent by age 12. Later symptoms may include abnormal bone development that leads to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occurs, eventually leading to paralysis. Intellectual impairment may or may not be present but if present, does not progressively worsen as the child ages. The average life expectancy for individuals afflicted with DMD is shockingly around 25.