Chapter 2 – The Doc II

The rest of the day I mulled over what Mrs. Marrak has told me. Her son wanted to stop his treatments. The child was ten, but in many ways was older than that. I had seen in other patients over the years how depression, worry, and the weight of medical burden wore down their spirits. Like the ocean gnawing at the cliff outside Portwenn Surgery in time even solid rock could succumb. Human spirit could far less durable.

Inherited, or caused by spurious mutations, Human Metabolic Enzyme Deficiencies were tricky to both diagnose and treat. The Marrak boy had been quite ill when I first saw him in surgery. His skin was pale, with stringy brown hair, and his weight was just over 4 stone*. Many doctors had totally missed the signs which ought to have alerted them to perform the proper testing. It was only that after reviewing the weight loss, lack of muscle tone, and aversion to certain foods that it had become clear to me. One very special and expensive blood test had confirmed that it was an enzyme deficiency; the lack of of which his body could never replace.

With diagnosis in hand a treatment plan was ready – already on the books. NHS readily signed off.

Before any IV infusions were started I explained to him and the mum his diagnosis, treatment options, possible effects of the prescribed infusion, as well as the benefits if treatment was successful. The boy asked questions – a lot – and he was perceptive, asking many detailed questions about where the enzyme came from, how was it created, any possible side-effects of long-term treatment, and so forth. I suitably answered each of his questions, which quite took time.

When I finished my expose Frank sat there silently for a full minute. Then he had turned to his mum and in his squeaky pre-adolescent voice said to her, "We should do it, mum," he stated with a level voice.

His mum glanced at me with not a little fear on her face. "This isn't about me, Frankie. It's about you, and you must be part of the decision. It is your life, love. Are you sure?"

He had pushed his scrawny hands together, his nail-bitten fingers red and raw. "Quite sure, mum. I can't keep living like this; the way I am, now can I?" He had then turned to give me a level look and sat up straighter. "Now Doc," he said, with a steady voice, "when can we get this thing started? Let's get it on my schedule."

So, treatment was started for the boy. Initially he had to travel to Bodmin Hospital every two weeks for the IVs, but when it was clear that transport would be a continuing problem, especially after Mr. Marrak decamped, I set up a treatment center in the front room. I draped the sofa, set up the infusion equipment, parked the boy on sofa with mum at his side, inserted the line, started saline, and then hung the bag of enzyme. Typically, inside of three or four hours the drug had been administered, and they went home.

During those times, I was available just next door in my consulting room to check on Frank, and his mum had received enough training from District Nursing that she was readily able to monitor the progress. Of course, she would alert me should anything fail to go smoothly. Other than setting up and tearing down it was a minimally invasive procedure, one any competent GP (or surgeon) could do. Other than a moment of momentary nausea on my part during IV line insertion, it always went well. Over the last two months he'd not had any bad reactions, and the treatment effected a positive response.

He had gained a half a stone weight, grown 2 cm in height, pinked up, hair had grown thicker, and he'd lost that haunted animal look about the eyes.

I sighed. Now that little blighter wanted to quit! Oh my God.

And yet I understood in some way the boy had grown tired. He knew knew full well, for I had taught him, what would happen if treatment was stopped. A steady reversal of all the progress, leading to a crisis and then death, or worse.

Sleeping on the matter did not bring any ready answer to how I ought to approach Miss Louisa Glasson – Acting Head Teacher of Portwenn School – who was my former fiancée, and who was also pregnant with our child.

I groaned aloud that morning over my breakfast as I considered the matter. Give me a torn artery and a bleeding-out patient any day over situations such as these.

Author's note:

* One stone = 14 lbs. A weight of 5 stone = 70 lbs, average weight of a 10-year-old boy. 4 stone = 56 lbs (20% underweight)