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We are running the Birmingham Half Marathon on the 11 October to raise funds for the Metabolic Service at Birmingham Children’s Hospital. The Birmingham Children’s Hospital is one of the three large national, centres for Inherited Metabolic Disorders as well as one of the designated UK NCG centres for lysosomal storage disorders. The unit is already well established as one of the leading centres for rare metabolic disorders in the World and actively participating in research projects and development of new treatments and dietary products to improve the quality of life for both children and adults with rare metabolic disorders.
Around 1,400 patients attend the metabolic unit and the spectrum of disorders is vast from those that can be managed by a special diet only to sadly those for whom no therapy is available. With new scientific breakthroughs the number of patients benefiting is becoming larger and early diagnosis is becoming crucial. This is only possible with more awareness in the community of these conditions.
Sharon’s son Louie has the rare metabolic condition Phenylketonuria (PKU) and both Louie and family receive fantastic support from the team at the Hospital.
People with PKU lack an important enzyme in their bodies. The enzyme breaks down an amino acid called "phenylalanine," into other chemicals the body needs. Without it, Phenylalanine builds up in the blood and too much is toxic to the brain and can cause many problems if untreated.
