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We are hosting a Charity tractor Run on 7th April (Good Friday) In aid of East Anglian Children’s Hospice. 

Why is the tractor fun called Ruperts tractor run? This is because my nephew Rupert has a terminal illness he was born with called hunters syndrome. Rupert receives a lot of help of E.A.C.H we we would like to show our appreciation for this! They go above and beyond with their help and care for all children that they help. 

What is Hunters syndrome? Mucopolysarcharidosis type II (MPS II) is a rare, inherited disorder. MPS II is also known as Hunter syndrome. Children with this condition have an abnormal accumulation of complex sugars in their cells, which affects many systems in their bodies. Hunter syndrome primarily occurs in boys and is one of about 50 diseases classified as lysosomal storage disorders (LSD). In these disorders, genetic variations disrupt the normal activity of lysosomes in human cells. 

Hunter syndrome is caused by a variation in the IDS gene, which contains the instructions for the production of a specific enzyme known as I2S. This specialized protein is normally found in the lysosomes of cells, where it helps to break down complex sugars called glycosaminoglycans (GAGs). Genetic variations in the IDS gene result in a deficiency or a complete absence of I2S, which in turn results in an abnormal accumulation of GAGs in the body’s cells.

Babies with Hunter syndrome are born with an X-linked recessive pattern. The gene that causes the condition is located on the X chromosome, one of two sex chromosomes found in every cell. Because male babies have only one X chromosome, a single altered copy of the IDSgene in each cell is enough to cause disease in boys. Female babies have two X chromosomes so an altered copy of the IDS gene must be present in both of these X chromosomes to cause disease. Women who carry one normal X chromosome and one X chromosome with the genetic variation for disease are known as “carriers.”

Current approaches to Hunter syndrome are tailored to specific patients and may include enzyme replacement therapy (ERT) and targeted symptom management. Treatment plans require interdisciplinary collaboration and depend greatly on your child’s age and specific disease presentation. 

Rupert is now the only child in East Anglia with Hunters Syndrome, this is very rare. When Rupert was first diagnosed there was 3 children in the East Anglia region, sadly Rupert is now the only one. 

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