Sickle cell warriors and a champion

Highlight of the week: Two leopard sightings sandwich a self-drive foray into the park. Our leisurely morning drive is cut short by an emergency. The second sighting ever-so-slightly delays our response time.

Lowlight of the week: Electric issues at the house. We are without air conditioning but have relocated the wifi and the fridge.

Maximum temperature: 32 degrees Celsius

Rainfall: 20 mm in one night. More than all of the last 20 Mays added together.

During my long and illustrious career in paediatrics, dealing with certain conditions became second nature. Like riding a bike. I knew exactly how to deal with all the nuances of underactive thyroid glands, or diabetes - sweet or sour. I could spot them from a mile off and give each a gentle nudge to keep all my endocrine plates spinning.

My endocrine, gynaecology and eating disordered patients in Middlesbrough got expert care and my synapses never tired of the 57 varieties of each. My patients rarely read the textbooks. These maladies were my bread and butter. I knew the ropes. I even wrote a few guidelines. Guidelines, that I broke whenever I needed to go off piste. Flexible guidelines. Not immutable ski trails. The deep powder was often so inviting. But I could always navigate my way back to the standard routes if needed.

The ropes of my past have now mutated into jungle lianas. I’m not too phased. I rarely need tests. Just as well. They lie well beyond the reach of most patients here. But I do miss the subtleties of using my mother tongue. I want to glean when a patient has wandered off into a snow drift. My interpreters decline to translate. Hamstrung, I soldier on. I do my best to guide patients back to the trail when they stray. Red flags for them to look out for. In English or Nyanja. Let’s hope we don’t lose too much in translation.

But now I venture into a blizzard. Sickle cell disease is well off the beaten track for me. I have looked after a few children with sickle cell disease in Middlesbrough. But it has always been outside my comfort zone. Guidelines charted the way. Those few children tended to be frequent fliers. Their condition meant that they never strayed too far from medical care. Painful crises bounced them back to us for pain relief, intravenous fluids and oxygen. We provided a home from home for them. Many of them were almost family. But I was never an expert. And I could always phone a friend to get back on track.

As my career progressed, sickle cell guidelines changed. Became more complicated. But we provided better care. More drugs with less side effects. More complex regimes. Different targets of treatment. Keith and I listened to a podcast before coming back to Zambia. The podcast talked about a potential cure for sickle cell disease. Gene therapy. Or bone marrow transplant. An olive branch. Nirvana. A cure for a debilitating genetic disease. Wielded before it can cripple or kill.

Please put down your pencils. Sit up. And pay attention. There will be no exam in this. You are not expected to take notes. Sickle cell disease is so rare in the UK, that there is no need for you to know about it. But that need-to-know principal now stands out like a sore thumb for me in Zambia.

Sickle cell disease. A genetic condition. A matching pair of faulty genes are needed for things to go South. One from mum. One from dad. Parents are carriers. Each parent has one faulty gene. No obvious disease and usually they have no idea. Some of their children get lucky, in this morbid game of Russian roulette. Often the chamber is filled with blanks. Two good genes, or one good and one bad, leave the child unscathed. But some lose. The fourth bullet fires live. Equally, it might be the 2nd, 3rd or the first. Two wrong genes do not make a right. With 2 bad genes the child is ill fated. Or rather: fated to be ill.

Affected children get sick. They can’t make grown up haemoglobin. Red blood cells go bananas. Small blood vessels clog as the bananas bunch up. This can happen anywhere in the body. Minor illness sets things off. But sometimes there is no rhyme nor reason. Painful crises are created by any minor drama. Oxygen, fluids and painkillers can save the day. No drama.

In the UK, 1 in 80 people carry the gene. African and Caribbean forefathers and foremothers load the dice and make those odds much worse. 1 in 2000 babies born in the UK have sickle cell disease. This sounds rare. But it is the most common genetic disease that we have in the UK. And we screen for it at birth. Affected children get treatment from a few weeks of age. I’ve never diagnosed sickle cell disease in the UK. Neonatal screening does this for me.

Here we are back in Zambia. The gene frequency is one in four and a half. And one child in every 80 is fated to be ill. We look after a population of 35,000. Of whom 50% are children. That means we have over 200 children with sickle cell disease. The sickle cell gene has no function in the UK, but in Zambia a single gene fends off malaria. Selected for by a millennial dance between plasmodium, anopheles and Homo sapiens. It’s no surprise that I diagnosed two children with sickle cell disease this week.

Zara is 9 months old. Her mother comes to see me. Through my interpreter, I ask her what the problem is. My family tell me she is a funny colour. Is mum’s reply. No symptoms. Well. Thriving. Just a funny colour. I take a look. The room is dark. I can barely see, never mind see the whites of her eyes. Outside, I agree with mum. She is a funny colour. Certainly anaemic. And yellow where white belongs. She is jaundiced. I declare. I feel her abdomen. Her spleen nudges up against my index finger. I put two and two together. And make four. She has sickle cell anaemia. I assert, with confidence. But also, with kindness. Mum is crestfallen. Her face tells of years of hurt. Have you heard of it before? I enquire. Of course. She replies. Two of my other children already have it. I don’t want Zara to have it too. A tragedy for the family. Each time that mum and dad blend their genes they pick up a new revolver. Each revolver has 4 chambers and only one live round. Each child has a one in four chance of misfortune. But misfortune has now hit 3 siblings in 4. Chance can be cruel.

I explain this to mum, and send her and Zara to Kamoto hospital. Zara needs a confirmatory blood test. And treatment. But I feel like a judge passing sentence, rather than a healer. Mum and dad had chosen not to look in the black box to find out what had happened to Schrödinger’s cat. I now remove the box. Zara is awarded a lifelong sentence of episodic chronic pain. A very high risk of dying from malaria or sepsis. Chronic illness means that Zara will be less likely to succeed at school. And Zara’s access to treatment in Zambia will be patchy, to say the least.

David’s story might be similar to Zara’s. But David is different. Ashes lie around David. David’s older brother is put to rest as a teenager. Sickle cell disease causes a fatal stroke. David’s own childhood is also clobbered by the same genetic misfortune. Both Joseph and David are similarly afflicted by sickle cell disease. But 9-year-old David rises like a phoenix from an unhappy childhood. David is now determined to make a difference on behalf of his fellow sickle cell warriors. David is 30. His story is worth telling in detail.

We meet David shortly after he starts as a volunteer in Kakumbi. David’s biological father abandons the family because of their double dose of sickle cell disease. The sperm donor blames David’s mother. Ironically his own culpability is hidden by ignorance. Nine-year-old David loses his older brother. Joseph is a victim to a stroke brought on by sickle cell disease. David himself misses a number of years from school with nasty crises. But David is a bright guy. He resits his school years and does very well. But he gives up a number of social activities to stay well. This means fewer crises. But social isolation. His mental health suffers. He despairs.

In 2016, David comes across a social media platform for people with sickle cell disease. He realises he is not alone. This gives him great comfort and support. David completes his A levels and is at first accepted to medical school. His ambition is to be a doctor and to care for people with sickle cell disease. But he does not count on the sickle cell disease taking over. A number of complications develop. University becomes too stressful. David re-thinks. He switches to nursing. His nursing course is tough – interrupted by numerous episodes of ill health.

David is currently back in Mfuwe. In September he returns for his final year. Not one to sit on his hands, David has crafted a role for himself in the Valley. A crucial role. He is volunteering in our Kakumbi clinic. He doesn’t believe in accepting the status quo. David is not passive in accepting the shortcomings of our Zambian healthcare system. Aggressive is too strong a word. Determined, resourceful and dogged. All words that reflect his tireless efforts to improve the lot of his gene pool. He has become a sickle cell champion.

David meets all our new sickle cell patients. And the old ones. He talks from experience. He shares his journey. But he stays positive. A role model for younger sufferers. Some of them are socially isolated. And have no knowledge of others who share the disease. He joins us at our under 5 clinics. Whilst all the mothers and children are waiting for weights and jabs, he captures their minds. This is his opportunity to normalise sickle cell disease. What is sickle cell disease? What should mums look out for? Every clinic will have at least 1 undiagnosed child. We have no screening program here. In some tree clinics we see over 140 children. Two undiagnosed children lurk in those clinics. David destigmatises the disease. The mothers are receptive. Lots of questions. Chatter and laughter. I pick up a new sickle cell patient whilst working under the tree. David is on hand to speak to the Mum. He tells her why she must go to Kamoto Hospital to get the diagnosis. She is persuaded to spend 16 Kwacha for the return journey. Eighty pence well spent, but with no source of income she needs to know why.

David’s frustration is that there is such good treatment out there. Life-saving treatment. Life-prolonging treatment. Life-changing treatment. But without a screening programme we all have to be vigilant. Despite sickle cell being 10 times more common than in the UK the genetic test is too expensive here for a screening program. Staff know too little about sickle cell disease. And vital drugs remain out of reach. Only one hospital in Zambia is able to do the genetic test. A private service. At a cost.

So, for now, we rely on our sickle cell champion. We refer our patients to David. We support him with his project. And we look forward to him qualifying and bringing all his enthusiasm and knowledge back to the Valley. Future generations will benefit from his experience and determination. It takes a champion to support a warrior.

Photo of the week. Please name the leopardess

David, our sickle cell champion

Nyamanunga under 5 clinic

Baboon? Spider? Both!

One of our elefriends