Kate's
Story
In June 2000 my Dad was diagnosed with a very rare genetic disorder called Gaucher Disease.
There is no cure for Gaucher Disease, but it is treatable and every week my Dad had to infuse himself with a man made enzyme. Normally this enzyme is in everyone's blood, but it is missing in people with Gaucher Disease.
Gaucher Disease causes most problems within the skeletal system. A lot of Gaucher cells group together and cause oxygen to stop following naturally through the bones. This happened to my Dad and part of his spine collapsed and he was in terrible pain. He had to go into hospital for seven weeks, even over the Christmas holiday, and have an operation to put metal plates in his back to support it.
Gaucher Disease also causes the spleen and the liver to swell up to twenty times their normal size. This then causes problems within the blood. My Dad used to get bruises very easily and had to have many blood transfusions.
The man made enzyme helps the body to get back to normal, although people with this disease have to do an infusion every week for the rest of their lives. Most people are able to lead relatively normal lives but sometimes have severe bone pain.
During the summer of 2002 my Dad started to get other problems with chest pain and poor breathing. The Doctors discovered that he now had a secondary disease called Amyloidosis. Less than one percent of people with Gaucher Disease go on to get this.
The second disease was very serious. It is a bone marrow disease similar to cancer.
My Dad was very brave and started to have chemotherapy. It was planned that just after last Christmas he would have a stem cell transplant and that should help him.
My Dad kept going to work for as long a he could and tried to do things with us at home. He went into hospital on the 10th of december as he was very ill. The Doctors said he could come home and my Mum bought him back on Christmas Eve but he had to go back into hospital on Friday 27th of December. On Christmas Day he was very ill but helped us all with our presents even though he was in a lot of pain.
He returned to hospital on Friday the 27th of december and was taken into the intensive care unit as his kidneys had stopped working. The next day he was moved to a private room and the Doctors told him and my Mum that they could not do anything more to help him.
My sister, brothers and I spent a long time with him at the hospital on Sunday. On Monday 30th of December we went to the hospital after collecting some friends from the airport we stayed with Daddy until the afternoon and he was hoping to come home that evening. At 6.40 he died.
My Dad was so brave and tried his best with everything. As Gaucher Disease is so rare hardly anyone has heard of it, even some doctors do not know what it is.
The
Gaucher Association
in England is a charity that helps children and adults with Gaucher disease.
They also help with the small amount of research that is being done into
this disease.
The Gaucher Association does not have much funding. The association really relies on help from sponsored events and fund raising activities. If the Association had more money they would be able to help people like my Dad who have this horrible disease.
I
would really like the BSN to help people like my Dad . He was the best
Dad and no one else should have to loose their Daddy like we have.
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If you feel you would like to help or contact the Gaucher Association their details are below. Gauchers Association Tel: + 44 (0) 20 7433 1121 Web: http://www.gaucher.org.uk/ Cheques should be made payable to: 'Gauchers Association'. Our charity number is: 1027571 and sent to Mrs Susan Lewis, Executive Director (Hon) at the above address. |
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