The Smith family, of Dunedin, has learned to “live in the moment”, as they deal with the ongoing impact of muscular dystrophy.
William and Stacey Smith’s elder son Stanley (5) has Duchenne muscular dystrophy, a progressive physical and neurological condition which is gradually robbing him of mobility.
Younger brother Albert (3) is unaffected by the condition, which came about for Stanley through a spontaneous genetic mutation.
Usually, Duchenne muscular dystrophy (DMD) is carried through a family’s “female line”, but can occur spontaneously.
A relatively rare condition, caused by an absence of dystrophin – a protein that helps keep muscle cells intact – DMD affects about one in 4000 boys.
DMD is one of nine types of muscular dystrophy.
Mrs Smith told The Star that Stanley had been relatively normal as a toddler, meeting his milestones, but by age 3 there was a noticeable gap between him and his friends.
“We had our suspicions when he stopped jumping and it took him a lot longer to get up and down stairs,” she said.
From there, Stanley had intensive testing, resulting in a formal diagnosis of DMD about 18 months ago.
Both pharmacists, the Smiths have a good understanding of medical matters, but have still found the many medical appointments and physiotherapy sessions challenging.
“It has turned all of our lives upside down,” Mrs Smith said.
Along with doing daily physical therapy routines, Stanley must take steroids to preserve heart and lung function, as well as helping to improve muscle function.
The drugs come with several side effects, including aggression and mood swings.
DMD also has a neurological impact, meaning Stanley takes a little longer to process information.
many of the supports available to families focused on the physical issues, it had been challenging to deal with the neurological effects of the condition.
Joining the Dunedin-based Muscular Dystrophy Association southern branch and meeting field worker Joanne Smith and other families had been a huge help, he said.
“Most of the other parents we have met are much further through the journey that we are on, so they have been able to give us great advice,” Mr Smith said.
Mrs Smith said despite the neurological challenges, Stanley was a bright little boy, with an amazing memory.
“Once something is committed to his memory, it is in there for good,” she said.
A pupil at St Clair School, Stanley attends part-time, giving him a chance to have necessary “down time” in the afternoon.
To save his energy for playing, he uses a wheelchair to get to and from school and the playground, and when out and about.
Stanley’s favourite things include cars and “anything with an engine”, visiting the physio pool and museums.
“We take the wheelchair and wander around to the different exhibits,” Mrs Smith said.
“It makes me laugh sometimes when suddenly he will see something, and he will jump off [his wheelchair] and run away – and people watching him do a double take.”
As a family, the Smiths are learning to adapt to Stanley’s condition on a day-to-day basis, and to adjust their future expectations.
“It has forced us to live in the moment more, and to let our children just be who they are,” Mrs Smith said.
The Muscular Dystrophy Association will hold a “High Tea” and fun afternoon this Saturday, September 30, from 1pm to 4pm at Catholic Social Services, 42 Macandrew Rd. The event will include guest speakers, entertainment for children, and afternoon tea. All welcome.