Who is wearing the genes?

Photo of the week: A gruesome spectacle. Hard to watch. The buffalo did not give up quickly

Highlight of the week: We manage to meet up with Quentin and Laura at the airport for coffee

Lowlight of the week: We forget to take photos at the airport so rely on some AI to put us in the frame together

Maximum temperature: 32 degrees Celsius (Colder than the UK)

Rainfall: Nil

The tiniest CurlyWurly unfurls. CAG is the nonsense triple repeat message that the double helix expresses. Over and over and over again. Thirty seven times the threshold. Expressing its fury. Apparently angry that no one seems to be listening. Manufacturing nonsense proteins. Clogging Patience’s coordination.

Gregor Mendel knew how it worked in principle. We still talk about his peas in a pod. His first family trees with squares and circles mapped out the good and the bad. All of us plebs also intuitively know that our fathers are our fathers. By appearance and character, rather than just because we trust our mums. Clever docs have worked it all out. Watson and Crick led the way. But a host of painstaking work in the lab, and some clever sequencing tech means the whole genome is now visible. Four base pairs hold the key. The key to health. The key to ill health.

I sit here under a tree at Lubeba outreach clinic working with a good friend, David. David is a nurse with sickle cell disease. His CurlyWurly is misspelled. Instead of an A, David has a T. His glutamic acid is replaced by valine. Valine deforms when oxygen is lacking. His red blood cells cut like a sickle. But I digress, this blog is not about David.

Back in England, genetics is a black hole for boffins. My mate Fiona gravitated there some time back. She managed to pierce the event horizon at our medical school reunion last year. Her vast intellect still intimidates me. Fiona is working on a cure for cancer. She has lots of CurlyWurlys to fix. In my previous life I looked after little ones with Turners and Downs. Syndromes born from having too few, or too many, CurlyWurlys.

This week’s blog is all about *Patience. Patience comes to Keith in want of a magical wand. Perhaps injections of vitamin B12 might stop the rot? Her friend *Rachel pushes Patience forward as Keith is loading Mzungu. Keith a soft touch, only too happy to delay the taxi service.

Keith listens. The story is unsteady. Told uncertainly. Reluctantly. Since in its entirety it forecasts inevitable decline. Describing unsteadiness and blind endings. False hopes from well-meaning clinicians pepper the story.

Patience’s broad based gait and her uncertain movements betray her badly behaving nervous system. Her cerebellum is all to pot. Poorly coordinating her moves and her life plans. Her eyes fail to see the detail and the flaws around her. She is practically blind.

Patience’s record card lists the scatter-gun attempts that other clinicians have had. Well-meaning attempts. Efforts to treat the untreatable. A list of some of our favourite weapons. Silver bullets for all the usual suspects. But Patience is not haunted by one of the usual suspects. So she seeks salvation from a more obscure option. Vitamin B12. Doctor Keith I was given an injection of B12 and it really helped. Keith, backed into a corner, adds another silver bullet to the scatter-gun list. Patience is feeling her way, unwilling to accept that her condition can’t be helped. Keith is not yet willing to turn a blind eye on her hope. He even agrees to buy the B12. B12 deficiency after all is the only stone left unturned. The only blind ending yet to be explored.

Keith at least has the decency to give Patience a shot across her bow: It’s a long shot Patience. Patience’s unseeing eyes look straight ahead. Her ears now also unhearing. She commits to 5 appointments with Keith over the next fortnight. Keith’s white magic comes in bottles. Red potion delivered via a blue needle into Patience’s thighs. All injections powerful by association. Placebo or not?

Patience is a journalist. Here in Mfuwe with her husband, seeking a new angle. A new beginning. Away from the rest of her family, who are unable to process the voids in her family tree. The crosses that mark lost loves. Patience is a remarkable lady. Now 28, her illness started 2 years ago. A vague history of weakness and unsteadiness on her feet. Alteration of vision. Problems with coordination. Steadily worse over 2 years.

Patience returns after 2 days. Keith, disappointed with the scatter-gun approach, calls in the big guns. Little old me! Keith wants scientific rigor and a more focused method. As Keith administers the erstwhile magic injection, I delve deeper. Patience has a complicated family history. Her father had a condition like this. Presenting in his 40s. Died in his 70s. Her sister presented in her 20s. Died in her 30s. Her sister’s daughter presented at 3. Died at 5. My brain fizzes and whirrs. A bulb lights up. A rabbit heads off. Down a wide gulley. Heading off to a tangible goal. A diagnosis within my grasp. Patience’s family has a dominant genetic issue. Mendel stirs. The anticipation is clear to me. It’s a triple repeat. I mumble.

I explain to Keith in the car. A triple repeat is a genetic stutter. The code gets overexpressed when the gene is born. Said over and over and over again. And in a family that sequence gets worse and worse from one generation to the next. It’s called anticipation. Each affected individual has a shorter fuse. The time bomb set shorter with each regeneration. Anticipating the cruel onset of a terrible illness.

Two more days pass. I’m armed with a big piece of paper. Ready to draw out the full family tree. To get to the bottom of all this. But Patience beats me to it. She produces a wad of notes. Her father’s notes. Her sisters. Her nieces. It’s all there. It’s all been done before. 5 generations mapped out. Others have had a stab at Patience’s genetic condition. But now a big finger is pointing at the glaring truth. I’m holding a smoking gun. Patience has spinal cerebellar ataxia. Type 7 to be precise. The visual loss clinches it. Keith’s magic vitamins will fall on stony ground. The last stone has been turned.

Smug. And immediately guilty for celebrating. I make a smart diagnosis, but there is no joy to be shared with Patience. She already knows that many of her family have early appointments with the Grim Reaper. Patience wants a fix. Rachel is herself living with HIV and has instilled belief in Patience that magic can happen. I hate to be the harbinger of doom. But resistance is futile. Whilst Keith giveth hope, I taketh away.

Mother to a daughter. Mother to a son. Her dodgy genes have already been dealt. The odds are horrible. Each young soul already carries a bad code, or not. A 50:50 bet. The cards lie face down. Ready to be played. But each child will play their card soon. Anticipation a cruel early crap shoot.

With each appointment Patience expresses how powerful her injections are. I’m much stronger. Keith’s stock is riding high. My stocks are soon to be sold short.

Patience’s latest update adds more woe. Another tale of a clinician offering snake oil. Some scurrilous chap in Lusaka had told her that a surgeon in India could cure her with a brain operation. Zambian culture makes it impossible to say no. Although we now have Zambian work permits we baulk at colluding with Zambian well-meaning positivity. We will be playing bad cop.

Grief is tearing Patience’s family apart. As part of an ab-reaction Patience’s extended family has washed their hands of her. So Patience, her husband and her 2 children have fled their Chipata home and sought support with friends in Mfuwe. In fact the way that Patience walks is eliciting negative responses even in relatively liberal Mfuwe. Discrimination is rearing its ugly head. People seem scared of an unknown new illness. Walking away from her. Talking in whispers. Knowing looks. Pity without empathy.

Discrimination is not acceptable here. Patience needs to be impatient now. She has a limited time to act. She plans, with our support, to meet prejudice head on. Her background in social care and journalism key. Drama can be powerful when you pull the right strings. Her story must be told. Her pain shared. People need to know that pain. Educated through drama. Patience’s struggle for acceptance will bring bliss from ignorance.

For now we come back to our CurlyWurly conundrum: Will Patience’s kids have bad genes or good genes? This is a question of great gravity. In England we would probably offer them a genetic test. But here in Zambia our favourite test is put to use. Time.

Perhaps only Smarties have the answer.

*Patience has given us permission to write her story. Names have been changed to protect identity

Remote cam photo of the week - 2 bushy tailed mongoose in one frame

The family tree already drawn and determined. Patience's illness now added to it

With Quentin and Laura. Got to love a bit of AI

The hyena arrives too early for the party. The lions have yet to fell the buffalo

The wise eye of a matriarch

Elephant therapy interrupts play. Too distracted to work. 

While there is a heat wave in the UK, today we have a weather warning of cold weather. It may drop below 10 degrees Celsius. How will we cope?