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 mps1 (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 patients have a missing enzyme which otherwise would breakdown the sugars in their bodies. The sugars build up in all parts of the body and cause deterioration. April suffers from a myriad of problems throughout her body including her sight, hearing, spine, joints, muscles and heart. Luckily the progression of the disease has been halted, though not cured, by a bone marrow transplant which April had at eight months old. This is effective in replacing the enzyme but does not solve any musculoskeletal issues and cannot repair damage already caused.
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 physio therapy. 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 I is one of the mucopolysaccharide storage diseases. MPS I includes Hurler, Hurler-Scheie and Scheie diseases. These diseases differ in severity of symptoms across a spectrum and are named after the doctors that identified them. People with MPS I are missing or are low in an enzyme called alpha-L-iduronidase, which is essential in breaking down mucopolysaccharides (long chains of sugar molecules used in the building of bones, cartilage, skin, tendons and many other tissues in the body). The mucopolysaccharides are known as ‘dermatan sulphate’ and ‘heparan sulphate’. When these sugar molecules are not completely broken down they remain stored in the body. The symptoms of MPS I occur when there is a build-up of these sugar molecules in the tissues in the body. Babies may show little sign of the disease but as more and more cells build-up of partially broken down 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 focusses on MPS (Mucopolysaccharide), Fabry and related disorders. These disorders cause a range of progressive disabilities. The MPS Society provides support across the UK to families affected by rare, life-limiting genetic conditions. These genetic conditions cause a range of complex difficulties and they provide 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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