“I am Judit, I am 11 years old, in sixth grade at primary school, live in Torroella de Montgri Giron, Spain, and was born with the disease Morquio A , mucopolysaccharidosis MPS IV A”.
At thirteen months, while bathing her, Judit’s parents realised that a bone was jutting out of her spine. The paediatrician told them that it was nothing to worry about, but to assuage their anxieties, her parents had a CAT scan; the results were worrying, showing signs of mucopolysaccharidosis. Test after test was undergone until Judit was eventually diagnosed with Morquio A disease, otherwise known as mucopolysaccharidosis type IV A.
Morquio disease is a lysosomal storage disorder belonging to the group of mucopolysaccharidoses. It is an autosomal recessive disorder. People with Type A have a galactosamine-6-sulfatase enzyme deficiency. This enzyme is needed to break down the keratan sulfate sugar chain. Those who suffer from Morquio disease have abnormally large amounts of the keratan sulfate glycosaminoglycans build up in the bones, joints, eyes, brain, causing damage. The disease is estimated to occur in 1 of every 200,000 births. Symptoms usually appear between 1 and 3 years of age.
Morquio A, disease develops in a number of ways. Affected children can experience an abnormal development of bones, often in the spine, and frequently have a large head, short stature with a particularly short trunk, a bell-shaped chest with broad ribs, widely spaced teeth, knock-knees, hypermobile joints, and over flexible hands which have little strength, preventing them from lifting the lightest of weights.
Despite her disease, Judit remains extremely positive and is loved by her family and classmates. She tries to lead a normal life, despite not being able to do many day-to-day tasks because of the weakness in her legs. She finds it very difficult to stand, and consequently uses crutches or a wheelchair, and needs the constant support of her family to get dressed and be carried upstairs. Despite being faced with all these challenges Judit couldn’t be more optimistic. She talks of her many passions: “I love IT: whenever I can, I am at my computer because there are few things I can do. I also love board games and adore playing chess”. She spends much time with her 14 year old sister who is a phenomenal support. Judit wakes up every day to go to a normal school where she has many friends. She has to be carried in and use the lift to go to class, and a classmate always stays in with her at lunch and recess to keep her company. The school is a huge support and a physiotherapist comes in twice a week to give her therapy. Judit also has drama one day a week and see a psychologist for two hours a week.
For the family, having a child that needs so much daily support is challenging. Mari, her mother, describes how she had to stop working, explaining: “I am her feet and hands”. Yet, thanks to the help of the Asociación Española de M.P.S. they have managed to get in contact with other families with the same disease and the school has been fantastic, enabling Judit to feel as comfortable and happy as possible. Whilst it is undoubtedly difficult, her mother describes how “Judit is an extremely positive and loving person and more than returns all the time we give her”.
On 21 January 2014, Judit had surgery on her hip. It is a huge operation which Judit will need three months to recover from, with the area from her hip to her feet in plaster, preventing her from sitting or moving. This is not Judit’s first operation: she has undergone surgery after surgery. A treatment for Morquio A disease is still undergoing clinical trials, but in Spain Judit has been unable to participate in these. “We are against the clock,” Mari describes, “the more time that passes, the shorter her life. However I don’t want to focus on life expectancy - it is the quality of life that truly counts”.