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!)
