On the 29^th June 2016 at 8.30AM I was
diagnosed with primary bowel cancer with secondary in the right adrenal gland
and a few areas in both sides of my liver. 
After overcoming the initial shock, I picked myself up and got organised
with the challenges ahead of me.

First stop was bowel surgery and upon recovery I
started chemotherapy.  After two chemo
sessions from the twelve I was supposed to receive, further treatment was
refused and I underwent surgery to remove the adrenal and right hand side of
the liver cancer.  Prior to this
receiving blood transfusions and Immunoglobulin Infusions to increase the
platelets and blood cells to enable surgery to commence.  Unfortunately the levels didn’t improve but the
surgeon was happy to commence anyway.  A
Haematologist did further investigations and took bone marrow biopsies.  The bone marrow samples went to a specialist
hospital in rare blood disorders in Manchester.

The results came back from Manchester confirming I had
Gauchers Disease.  A very rare blood
disorder (statistically only 134 Adults in England are being currently treated
for this condition) passed down from both parents who would have to both have
been carriers. The first child normally doesn’t get Gaucher’s, in which case
they are a carrier.  Being the second child,
I had a 25% chance.  Wasn’t I lucky!

Since then I took a trip to the Royal Free Hospital to
discuss with Professor Atul Mehta in more detail Gaucher’s Disease and have
further tests.   There are three types
and luckily I have the better of the three, Type 1.  This “should” mean a normal life span.  It was discussed that I was very unusual to
not have my spleen and liver showing four times the size and therefore the
Gaucher’s must be in my bone marrow around my skeleton.  This also mean’s chemo is off the menu and surgery
has been given the go ahead to remove the last known cancer deposits of the
liver.  I must admit, as treatments go, I
wasn’t enjoying chemo.  Therefore, I’m
seeing this as a little bit of a blessing.

In March I will be back at the Royal Free Hospital to
undergo a bone density scan, a full skeletal MRI (to see where the Gaucher’s is
within my skeleton) and the first treatment of Enzyme Replacement Therapy (two
hour injection).  ERT is required to help
increase the enzymes missing in my Lysosome cells within the body which break
down waste in my blood.  I don’t have
enough enzymes in my lysosome cells to break down the waste and therefore this
causes a back log which clogs up in most patients suffering with Gaucher’s in
their Spleen and Liver, although in my case, my skeleton.  This will cause the usual symptoms I have
suffered all my life ie. Fatigue, Anaemia, ITP (low platelet blood clotting,
bruising, nose bleeds and bleeding gums) but later on skeletal issues like
brittle bones, fractures, breaks etc.  ERT
treatment will be fortnightly (luckily at home) with six monthly check ups at
the Royal Free Hospital subject to the treatment working.  Fingers crossed.

Although this all seems like a crazy few months, I am
so glad this has happened to me and not anyone around me.  It makes you realise just how amazing all the
professors, consultants, doctors, nurses, scientists, researchers, fundraisers,
family, friends and colleagues are to all help me through this path.  Thank you everybody involved.  You truly are all a gift, it means a lot.

Only a mad person would give themselves extra
challenges on top of full-time work, college two evenings a week and having
horses but this is how I roll.  It
wouldn’t be me to not want to challenge myself further and help to give back to
a good cause.  Therefore, I will be
climbing Ben Nevis and Scaffel Pike on the weekend of 29^th July and would
be very grateful if you could show your appreciation by making a deposit (no
matter how small) to the Gaucher’s Association. 
For more information about Gaucher’s Disease, please follow the link https://www.gaucher.org.uk/

Thank you for sponsoring me and helping people with
this rare blood disease. 

Leigh