DOCUMENT

OUR 2024 APPEAL HEROES REVEALED! When you meet Mads for the first time, you would never guess that he had a rare muscle wasting condition. He looks like many other wiry seven-year-old boys. He’s happy, enjoys playing with his friends, and seems unfazed by challenges. Mads and his eight-year-old sister, Harper, both have Emery- Dreifuss Muscular Dystrophy (EDMD). Mads presents as acute, Harper is more dormant. EDMD is a rare, often slowly progressive genetic disorder denying muscle development causing weakness, especially in arms and lower legs. It also affects the heart muscle, often leading to heart problems in early adulthood. EDMD affects about 1 in 250,000 people. Although life expectancy may be shortened, careful management can allow many to live into middle age. Identification of this rare disorder can be extremely difficult. “Mads’s kindergarten teacher mentioned that he was falling more often than the other kids and constantly coming home with scrapes and bruises,” says his mother, Chiquita. “When we consulted the doctor, he dismissed our concerns as mere growing pains, assuring us that Mads was still young.” They then went to a private osteopath to determine if the issue was skeletal. Although it wasn’t, the osteopath recommended we get a referral for a paediatric evaluation. The paediatrician observed Mads walking and running, recorded videos, and sent them to a neurologist in Christchurch. The neurologist called us in for an appointment and mentioned he suspected it could be either Muscular Dystrophy or Multiple Sclerosis. Mads underwent genetic testing, which revealed he carried EDMD with a LMNA gene mutation. “Despite being told it could be muscular dystrophy, the diagnosis was a huge shock, as we had hoped it would be something less serious,” says Chiquita. Mads’ family underwent genetic screening and discovered that the condition is also present in his father and his sister, Harper. “The frightening aspect is that as the body may express a different aspect of the gene so her condition could change at any moment,”says Chiquita. “And so, we are making the most of the present, knowing that it won’t be like this forever!” While Harper is very mobile, Mads faces challenges on a daily basis. He often falls off bar stools, can’t walk long distances, struggles to climb stairs, and becomes easily fatigued. “When it comes to accepting his condition, we are fortunate that he is an easy-going kid with a huge stock of positive energy. He handles it really well; it helps that he was diagnosed at a young age,” says Chiquita. “We are lucky to be blessed with excellent external support. Karoro School are great – Mads receives visits from a physiotherapist and an occupational therapist, who have helped arrange the classroom to support his needs. They are very sympathetic and tailor parts of class routine to make it easier for him.” “Jane from the Muscular Dystrophy Association (MDANZ) is fantastic. She checks in every three months to see how we’re doing and connects us with others in similar situations. Additionally, she organizes a coffee group when she visits Greymouth, allowing us to stay connected with the broader MDANZ community.” “For other families facing similar challenges, my advice is to persist in seeking answers and trust your instincts. Initially, it was frustrating when doctors didn’t listen, but we advocated for our children and eventually found the answers we needed though the right medical channels,” says Chiquita. “... we are making the most of the present, knowing that it won’t be like this forever!” 13