APRIL
“April is a brave and determined little character, so friendly and quirky, she charms everyone who meets her.”
“She forever wants to play out in the garden or at the park and loves mud and puddles and paint - anything where she can make a mess! Like most children, she enjoys singing and stories, cuddling and CBeebies. She also has two brothers, George and Eli, who she smothers with affection - whether they like it or not!”
April is a three-year old girl who has MPS 1 (Hurlers Syndrome)- a genetic condition affecting 1 in 100,000 people.
“She loves getting together with her cousins and wider family and being thoroughly spoiled by everyone!”
Hurlers Syndrome patients have a missing enzyme, which normally would breakdown sugar molecules in their bodies. As a result, sugar levels build up and cause all manner of deterioration. April suffers from a myriad of problems throughout her body targeting her sight, hearing, spine, joints, muscles and heart. Luckily, the progression of the disease has been halted, albeit not cured, by a bone marrow transplant operation that April underwent when she was eight months old. This was effective in balancing her enzyme levels but did not solve any musculoskeletal issues and any damage prior to the operation is permanent.
April receives fantastic treatment at Manchester Children's Hospital, who are specialists in April's condition and has developmental input from the team in Wrexham Maelor, including play, speech and physiotherapy. She is supported by the MPS society who fundraise for research, provide information and do advocacy work for families as well as organising conferences and events to bring affected families together.
FIND OUT MORE
What is MPS 1 Hurlers Syndrome?
MPS 1 is one of the mucopolysaccharide storage diseases. MPS 1 includes Hurler, Hurler-Scheie and Scheie diseases. These diseases differ in severity of symptoms across a wide spectrum and are named after the doctors that identified them. People with MPS 1 are lacking or have low levels of an enzyme called alpha-L-iduronidase, which is essential in breaking down mucopolysaccharides (long chains of sugar molecules used in the building blocks of bones, cartilage, skin, tendons and many other tissues in the body). The mucopolysaccharides are known as ‘dermatan sulphates’ and ‘heparan sulphates’. When these sugar molecules are not completely broken down, they remain stored in the body. The symptoms of MPS 1 occur when there is a gradual, but significant build-up of these sugar molecules within the body’s tissue. Babies may show little signs of the disease, but as more and more cells continue to store partially fragmented mucopolysaccharides, symptoms start to appear.
To find out more about MPS 1 Hurlers Syndrome, and related diseases, click here.
MPS Society UK
Founded in 1982, MPS Society are the only registered charity in the UK which focuses on MPS (Mucopolysaccharide), Fabry and similarly related disorders. These disorders cause a range of progressive disabilities. The MPS Society provides support across the UK to families affected by these rare, life-limiting genetic conditions. As these cause complex somatic consequences – MPS Society provides vital support to the whole family for as long as they need it.
To find out more about the great work that MPS Society do, please click here.
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