Tim’s parents found out that he had a genetic anaemia called pyruvate kinase
deficiency (PKD) before he was born. PKD is an inherited condition resulting
from two mutations in DNA that affect the pyruvate kinase enzyme in red blood
cells. Pyruvate kinase is an enzyme that helps cells convert sugar into energy in a
process called glycolysis. Red blood cells rely on this process for energy, and so
PKD leads to a deficiency in energy and so cells become fragile and break down
easily, a process called haemolysis. Red blood cells transport oxygen around the
body and without them many of the body’s functions become impaired, which
can result in jaundice, pale skin, fatigue and shortness of breath.

As a result of this as a child Tim felt tired and low in energy and was physically
jaundiced. This meant that he was not able to play very physically demanding or
contact sports such as rugby, which he said wasn’t too bad as “sports wasn’t a
passion of mine anyways!”. It also led to teasing and scrutinization from teachers
which overall was not a pleasant experience. This childhood experience of
coping with PKD was Tim’s hardest aspect of the genetic anaemia but he still
made the best of it and became a cox for sailing when he was slightly older,
allowing him to still get involved in sports.
Throughout his life PKD has also impacted him in longer-lasting manners such as
in his career aspirations. Having PKD meant Tim was exposed to doctors and
haematologists from a very young age. This, of course, rubbed off on him and
instilled an interest in biology, which led to him volunteering and then working
at a haematology lab.

To deal with PKD Tim was placed in an incubator for the first 3 months of his life
where he had many blood transfusions. Interestingly, he did not need any more
transfusions until he was 20 years old; this was due to a severe drop in his
haemoglobin. His medication now only consists of tablets and, as he explains,
does not have a large impact on his day-to-day life.
After suffering from a haemolytic crisis the doctors ran tests to understand why
it had happened and what courses of action they should take. They took samples
of his red blood cells and after assessments, came to the conclusion that there
were two possible options for him: spleen removal (splenectomy) or a bone
marrow transplant.

A bone marrow transplant replaces the patient’s own stem cells which produce
damaged blood cells with healthy ones from a donor, and could essentially cure
his genetic anaemia. However this carries the risk of many side effects including
death, and could result in many unwanted consequences in the future. The
spleen is an organ that sits under the rib cage on the upper left side of the
abdomen. It helps fight infection and filters old or damaged blood cells from the
blood. A splenectomy is the surgical removal of the spleen, thus allowing red
blood cells to stay in the circulation for longer. While it carries a lifelong risk of
infection, it is much simpler and safer than a transplant, so Tim and the doctors
then decided that splenectomy was the way to go and so he was prepared.

The preparation for splenectomy consists of receiving a pneumococcal vaccine
and other vaccines to help prevent infection after the spleen is removed – this is
critical in order to prevent life-threatening infections. Tim also underwent blood
transfusions so that he had enough red blood cells after the spleen was removed.
Just before the actual operation Tim was given a general anaesthetic and then
the surgeon began an open procedure (this operation is now usually performed
via keyhole surgery).
During open splenectomy, the surgeon made an incision in the middle of Tim’s
abdomen and moved aside muscle and other tissues to reveal his spleen. The
surgeon then removed his spleen and closed the incision. This method of surgery
has left Tim with a scar that he doesn’t mind much and often forgets about (but
remembers on days at the beach!)

After the operation Tim was moved to a recovery room where he remained until
he was deemed fit to leave. He was also required to then take penicillin tablets
daily and has been on them ever since. After the operation travelling has also
been restricted for Tim. He doesn’t have a spleen and therefore is very
susceptible to malaria meaning he will be unable to ever visit some places
around the world. Tim says that apart from the travelling restrictions and the
penicillin pills the consequences of his splenectomy are not noticeable and the
operation has improved his health. He thinks that though it was a painful process
it has transformed his life for the better.
Overall, Tim’s attitude is positive and inspiring and it was a pleasure to speak to
him and learn about his experience with PKD.