Expressing gratitude on World Health Day

Emily Mason talks to MedTech Views about her decision to have a baby while navigating a rare blood condition

“I got very ill travelling in South America in my early 30s and had to spend a few days in hospital where they thought I might have dengue fever,” Emily explains. “When I came home the symptoms persisted sporadically. If I caught a bug or was run down, I’d get very ill and weak. I had what I thought was blood, but was actually haemoglobin, in my urine, and a stomach-ache alongside intense fatigue. All the while I was noticing how breathless I felt playing sport and wondering why I was getting less fit.”

Despite blood tests confirming that Emily had low haemoglobin (the main sign of anaemia), her doctor couldn’t find a cause. Haemoglobin is a protein in red blood cells that carries oxygen from the lungs to the body’s tissues and gives blood its red colour.

“After a year I saw a haematology specialist, who did a test to rule out an ultra-rare blood disease called Paroxysmal Nocturnal Haemoglobinuria, or PNH” says Emily. This involved sending a sample of her blood to a laboratory to check whether it contained any PNH blood cells using special ‘flow cytometry’ medical technology, which uses lasers to show the percentage of red and white PNH cells in your blood. “In fact, I did have it, so I was referred to a PNH specialist team at another hospital.”

PNH is a very rare blood disease where a person’s immune system attacks and destroys their red blood cells. This destruction of red blood cells is called haemolysis, which can increase during an infection and, in women, during pregnancy (1). Women with PNH are at a higher risk of developing a potentially life-threatening blood clot (thrombosis) during pregnancy and need to be monitored closely throughout.

There is no cure for PNH, but effective treatments are available. Emily was given medication to reduce the destruction of her red blood cells and bring her levels back to normal. “I delayed pregnancy into my later thirties as I needed some time after the diagnosis to adjust to everything and I also felt very scared about going through a high-risk pregnancy with PNH,” Emily comments. “I then had a miscarriage and an ectopic pregnancy.”

When she became pregnant with her son Francesc, Emily saw her haematologist more frequently than usual to ensure her blood levels were fine. With the support of medical technologies, her doctor was able to check various markers and adjust her medication when needed. “In particular, they wanted to check that I wasn’t having any high levels of haemolysis which could lead to a blood clot,” she notes. “I also had extra appointments with my obstetrician who specialises in blood disorders.”

Emily had extra growth scans using ultrasound technology, but fortunately nothing came up and her body coped well with the pregnancy. “Obviously, there were moments of anxiety, but I’m delighted that it went smoothly,” she says.

Emily feels grateful that a proper diagnosis meant she could get the correct treatment. “I’m hugely lucky that these medications are available to treat PNH. They’ve completely transformed my life and without them I wouldn’t have this beautiful baby boy.”

This year’s World Health Day theme is ‘Healthy Beginnings, Hopeful Futures’. It kicks off a year-long campaign on maternal and newborn health.