The Hill family from Stratford share their devastation after Artie, three, diagnosed with life-changing Duchenne Muscular Dystrophy
A STRATFORD family have shared their devastation after their toddler was given a life-changing diagnosis.
Adorable Artie Hill is as bright as a button with a bubbly personality and a mop of blond hair. But just a few months ago his mum and dad, Carrie and Greg Hill, who are in their 40s, were given the thunderbolt news that the three-year-old has rare genetic disease Duchenne’s Muscular Dystrophy (DMD).
The couple hope that by sharing their story it will help other people understand the condition better.
When the Herald visited the Hills home in Bridgetown on a sunny afternoon last week we were greeted by the usual family teatime scenes: Artie messing about in the garden hyped up after a day at Cygnets Nursery (which he loves), while caring big sister Lily, 14, played alongside, keeping a watchful eye. They were joined by middle sister Linnea, seven, smiling away as she took to a swing.
“Duchenne Muscular Dystrophy is a rare, incurable progressive muscle-wasting disease that makes those living with it physically weak,” explained Carrie and Greg while the kids were distracted with play. “Artie will have to live with this reality, but he is already showing us how resilient he is, and he finds joy in all aspects of life regardless of his challenges.
“He is one of the strongest boys we know, and we couldn’t be prouder to be his parents.”
Artie was diagnosed with DMD early this year after a routine blood test had been commissioned as part of investigations into his speech and mobility delays.
Genetic tests confirmed Carrie and Greg’s worst fears: Artie had Duchenne’s Muscular Dystrophy.
DMD is a genetic disorder that affects the X chromosome; it can be inherited but it can also occur due to spontaneous mutations.
“We are still waiting for parental genetic test results, but as Carrie has no family history of DMD, it is suspected that Artie’s condition was caused by a mutation,” explained Greg, who is a manager for an organisation that safeguards children.
Artie has some symptoms of DMD already. He lacks strength and falls over a lot and can’t walk far without getting tired or sore. Neither can he run, jump, hop, or climb up or down stairs, and the family have been advised to never let him play on equipment such as a scooter or a bouncy castle.
Detailing his other symptoms, Carrie and Greg said: “He has speech and language delays; his tongue muscles are affected, and DMD can also affect brain development. Artie finds it hard to express himself, which can result in him sometimes getting frustrated or upset. Although he is still developing skills, he won’t follow the normal developmental milestones for his age.
As he grows older Artie will start to lose his abilities. The condition typically progresses in stages, from early childhood to adulthood. The first stage is when the child starts to show signs of muscle weakness, usually in the legs and hips and the second stage is when the child needs a wheelchair. The third stage is when the child develops problems with the heart and lungs and the fourth stage is when the child needs constant care and support, which can be from late teens onwards.
Although sadly there is no cure, Artie is having ongoing physiotherapy, speech and language therapy, occupational health visits, neuromuscular clinic visits, heart scans, and more.
There are limited treatments available that help to slow the condition, such as steroids which can help preserve muscle strength, although these have side effects, such as bone thinning and increased risk of infections.
Describing the diagnosis as “devastating,” Greg and Carrie said they are still trying to come to terms with the emotional impact and what it means.
“It has been a life-changing experience. There has been a lot to learn, and a lot to process. DMD is a progressive condition that causes muscle weakness and wasting over time. It affects not only the limbs but also the heart and lungs.
“There is no cure for DMD, and the life expectancy is usually around 30 years. We have been overwhelmed by the amount of information and support we need to learn and access for Artie.
“We have also been worried about his future and ours as a family.”
Artie’s diagnosis comes shortly after it was confirmed that Linnea has autistic spectrum disorder (ASD) and suspected attention deficit hyperactivity disorder (ADHD).
Mum Carrie, who is a qualified teacher and works as an assistant at Shottery Primary School, describes Linnea as “full of energy with an incredible imagination, and funny, but also sensitive.”
They have struggled with a difficult year, as any family would, but their love and resilience shines bright even as they describe the impact on them all.
“There’s no denying it has been very hard emotionally for us. We have tried to find ways to cope by focusing on positive things, such as fundraising for DMD charities, researching the support available, and planning for the future. We have also tried to be honest and open with our children about Artie’s condition, but in a way that is appropriate for their age and understanding.
“Lily is aware of the situation, and she is very worried, but she is also very helpful and supportive. She is becoming a young carer for Artie without even realising it. Linnea understands that Artie has difficulties with his muscles, but she doesn’t grasp the full extent of his condition. She sometimes gets frustrated or jealous when Artie gets more attention or help than her. We try to balance their needs as much as we can, but it can be difficult.”
After finding out that Artie has DMD, the family has had a lot of help from various professionals and organisations, as well as friends and family.
But they are well aware that with children with DMD and autism they will continue to need more and more support from agencies and the community.
“Our biggest challenge remains our housing needs,” the couple said. “We will need a property before long that has enough space for a downstairs bedroom and wet room for Artie, as well as room for an electric wheelchair and other equipment storage and breathing space for everyone. With cost-of-living increases and house prices being so high, our housing needs both feel more pressing and out of reach, and the support the council can provide is limited. We are still in the early days of our journey and may need to consider fundraising one day. We are working steadfastly towards our goals and hoping that more options will open before long.”
Despite the rocky path ahead Carrie and Greg remain movingly steadfast.
“We always try to be optimistic about the future, even though we know it will be challenging,” they told the Herald. “We hope that one day there will be a breakthrough treatment that will make a difference for Artie and others like him.
“We hope that he will be able to live a long and happy life despite his condition, and that he will be able to achieve his dreams and goals whatever they may be.
“We hope that he will find love and happiness with a partner who accepts him for who he is.
“We hope that our family will stay strong and united throughout this journey and that we will be able to support each other no matter what. We certainly intend to make some memories and give our children the best lives possible.”
Finally they added: “We hope that one day there will be a cure for DMD, but until then, we will keep fighting and hoping.”
What is muscular dystrophy?
Duchenne and Becker muscular dystrophy are rare and incurable conditions that affect mainly boys and young men, causing progressive muscle weakness and wasting. Artie has Duchenne’s Muscular Dystrophy (DMD), which is the most common and severe form of muscular dystrophy; about 100 boys are born with Duchenne Muscular Dystrophy in the UK each year. It means that his body cannot produce enough dystrophin, a protein that helps keep muscle cells intact. Without dystrophin, his muscles cannot repair, and become damaged and weak over time. Duchenne affects Artie's physical abilities, his ability to walk far. He has never been able to run, jump, hop, or climb stairs, and eventually he will lose the ability to breathe unsupported, and even smile. It is estimated children with Duchenne will be wheelchair dependent between eight and 12. Artie will also need medication and therapy to manage his symptoms and prevent complications. Medication for children with Duchenne begins at the age of four.
How can readers help?
Greg and Carrie Hill said: “Readers can help by learning more about the condition and those living with Duchenne and Becker. They can also support the charities that provide information, emotional support, research, and advocacy for them. Some of these charities are Duchenne UK, Muscular Dystrophy UK, and Action Duchenne. Please consider donating to help them continue their vital work.”