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You may, or may not, know that I suffer from an inherited metabolic disorder called Pyruvate Kinase Deficiency.
Pyruvate Kinase Deficiency is a rare blood disorder that belongs to a group of disorders in which the red blood cells (erythrocytes) are defective and are not "sphere-shaped” (Nonspherocytic Hemolytic Anaemia). PKD is characterised by a deficiency of an enzyme known as pyruvate kinase. There are two types of pyruvate kinase, a liver type and an erythrocyte type. PKD is caused by a defect in the PK gene which codes for both types of pyruvate kinase. PKD can be hereditary or acquired.
The severity of this disorder varies; treatment depends greatly on the individual . Some cases may be mild and will therefore require no treatment whereas more severe cases will require treatment such as blood transfusion and removal of the spleen (splenectomy). I have required blood transfusions in the past and when I was six I had a splenectomy. Consequently I am on medication for life.
Climb (Children Living with Inherited Metabolic Disorders) is committed to fighting metabolic diseases through research, awareness and support. It is the UK's only dedicated organisation to provide advice, information and support on over 730 metabolic diseases to children, young adults, families, carers and professionals. There are over 20,000 families affected in the UK over 39,000 throughout Europe and over 70,000 in the USA.
I will be running the Great Scottish Run 10K (my 1st ever 10K!) in Glasgow on the 6th September 2009 and have decided to raise money for Climb.
All donations will be gratefully received.
Kevin
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