Me, husband (Paul) and our two children, Alfie and Archie are raising awareness and much needed funds for The Society for Mucopolysaccharide Diseases (the MPS Society). The MPS Society is the only UK charity supporting individuals and families affected by MPS, Fabry and related diseases. These are progressive, life limiting genetic conditions.
Mid 2014 it became apparent that Fabry disease was present in the inherited genes of my husband’s family.
Fabry disease results from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, alpha galactosidase A, which is normally responsible for the breakdown of globotriaosylceramide. In patients with Fabry disease a fatty substance (globotriaosylceramide) does not get broken down due to the missing or non-functioning enzyme alpha galactosidase A. Since this fatty compound (lipid) is not being broken down and removed, it begins to accumulate. In patients with Fabry disease, this accumulation occurs primarily in the blood and in the walls of blood vessels. As the abnormal storage of this fatty compound increases with time, the channels of these vessels become narrowed, leading to decreased blood flow and decreased nourishment of the tissues normally supplied by these vessels. This abnormal process occurs in blood vessels throughout the body, particularly affecting vessels in the skin, kidneys, heart, brain and nervous system.
First to be diagnosed was Paul's eldest brother Mark, who was diagnosed with having irreparable damage caused to numerous organs and has been receiving 2-weekly infusions to replace the missing enzyme from his blood, for nearly 2 years . My husband's younger brother, Ashley has now been receiving his infusions since the middle of last year. My husband has only just been re-screened on 13/04/16 to find that there is an increase in the damage caused to his heart, he is now awaiting further tests to see if he now needs 2-weekly infusions also. Due to how this disease is inherited (through the X and Y chromosomes), the daughters of my husband and Pauls younger brother, Ashley have automatically inherited the defective gene and there is a 50% chance that they will also pass the defective gene onto their children too.
Myself, Paul, Alfie and Archie will be taking part in at least 8 events this year: > May 1st Lichfield Half Marathon, Paul and Charlie. > May 22nd, Snowdonia climb, Paul, Charlie, Alfie and Archie, with our EvoFit family. > June 19th, Shrewsbury Half Matathon, Paul and Charlie. >July 2nd, Black Country Half Marathon, Paul and Charlie.
NEWLY ADDED EVENT
> August 6th, 3 hour spinathon, held at EvoFit gym Willenhall
> September 4th, Wolverhampton Half Marathon, Paul and Charlie.
NEWLY ADDED EVENT
charity Golf Day at Asbury Golf course 08/10/16
> October 16th, Birmingham Half Marathon, Paul and Charlie. > October 23rd Solihull Half Marathon, Paul and Charlie.
>November 19th, Movember Run Sutton Park 10k.
Please give what you can in helping us to help our family and others who are affected by Fabry disease.
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