Hazel McHaffie

mitochondrial disease

Charlie Gard: Letting go

I’ve personally had a more-than-usually stressful year this year but it’s nothing compared with the one the family and staff involved with little Charlie Gard have had.

Charlie Gard
I guess you’ve all heard about him, the little lad born last August with a rare genetic disorder which causes progressive muscle weakness and brain damage. Blind, deaf, kept alive on a machine, unable to swallow food, with little or no awareness of the world around him. And totally unable to speak for himself. Yes?

This baby has become an unlikely celebrity, not just here in the UK but around the world. Even the Pope and President Trump know about Charlie and have attempted to intervene (hmmmmm …). Why? Because his parents, Connie Yates and Chris Gard, have been unable to accept the medical advice of doctors at Great Ormond Street Hospital in London that their son is so irreversibly damaged that he should be allowed to die with dignity. Instead they want to take him to the USA for experimental treatment, and the public have been so touched by their tragedy that they’ve stumped up £1.3 million to fund this long shot. But to date Connie and Chris have been denied that opportunity … and then they were given more time to build their case … and then this week the neurosurgeon recommending this treatment was flown over from the States to assess Charlie … and now the case is going back to the courts tomorrow. And all this time, staff are caring for him, keeping him alive, against their better judgement.

Now that’s what I call real stress. All round. OK, I know there’s been huge coverage of this story but forgive me if I add my mite. And if I take a while to say it carefully. (I’ll compensate with a short post next week. Promise!)

My viewpoint
I should probably explain, that in a former life I was a university researcher, and this whole business of withholding or withdrawing treatment from very ill babies was exactly what I studied in great depth over many years. As part of my investigations I interviewed 176 medical/nursing staff and 109 parents involved in these kinds of cases. Harrowing stuff. And so powerful was the voice of the parents that the book reporting this study (Crucial Decisions at the Beginning of Life) was voted Medical Book of the Year in 2002 by the British Medical Association. At the award ceremony it was said that listening to the voice of these parents would be salutary for all medical personnel in their dealings with families across all disciplines.

So what did these mothers and fathers tell us? That they wanted to be closely involved in the decision making process. It was part of being a parent. Not all wished to have the final say but they all wanted to be part of the team responsible for the decision. It stands to reason it cannot be only down the parent; they don’t have the knowledge or skill or medical expertise required. It’s a team effort, doctors, nurses, parents, working closely together, all putting the baby’s interests at the centre of their deliberations, drawing on other experts and supporters where necessary. Mutual trust, respect and collaboration. That’s the ideal.

In Charlie’s case something has gone catastrophically wrong – for reasons no one outside that tight knit group around Charlie’s hospital bed can really know. The parents have told their side of the story to the media, we’ve heard what they think. But the doctors are bound by professional ethics to respect the confidentiality of their patients and families; their arguments will never be articulated in public. And one side of such a complex case is never enough.

So I want to make a couple of points which I think are being overlooked in at least some of the reporting.

The staff
This famous London hospital has had Charlie in its care for months and months. Those intimately involved in his day-to-day management will have formed real affectionate ties with him. They want only what’s best for him. And as they’ve watched him deteriorate, with each grim test result, all unseen and unsung, the team will have agonised over the options, done all in their power to explain to the family the bleak prospects and consequences of prolonging the dying process. They’ll have understood the catastrophic implications for the family, given them time to accept the facts and the prognosis. Trust me, they didn’t want to go to court. It’s very much a last resort when all efforts to communicate effectively have failed but the child is clearly at risk of harm.

Which only goes to show how convinced they are that it is not in Charlie’s best interests to spin the dying process out. They are quite sure that any further treatment would be futile. They are quite sure that keeping him alive isn’t a kindness, may indeed be a harm. And the courts – from the High Court through to the European Court of Human Rights, have all upheld their expert medical view. Which brings me to one of the points I want to make which I haven’t seen included in media reports. Decisions about medical futility rest solely with the doctors. They know; parents don’t. Furthermore in law they are not obliged to treat a patient when they know it to be useless. Nevertheless, Charlie’s doctors have been prepared to keep treating him – expensively, around the clock – to give the parents more time; time to come to terms with this tragedy; time to say goodbye. And in practical terms, this translates as, each day doing things with and for him that go against their own better judgement. How harrowing must that be?

The parents
Of course the parents are ‘utterly heartbroken‘. They’ve discovered that they both carry a faulty gene and that’s why Charlie has this terrible illness. One after another their hopes and dreams have been cruelly dashed. Dreams of a perfect baby. Hope that the damaged baby will survive. Hope that the brain damage might be reversible. Hope that a completely unproven (not even tested on mice!) experimental treatment might just save him. Hope that they will fulfill their daily promise to him that they will bring him home – to the room, the cot, the toys, that they have lovingly prepared for him. Hope that if he has to die, he will slip away in that private gentle environment.

And yet, it seems, even in the face of all the evidence, the parents are struggling to accept the enormity of Charlie’s medical situation. His mother is so deep in denial that she even thinks her little boy could grow up to be perfectly normal. If only! They believe strongly that parents know best. They perceive the experts who say otherwise are somehow denying their prior parental rights, and Charlie a right to life. And with such a major breakdown in communication, trust has been lost. Cut adrift from their anchors they are ready to clutch at any straw, exhaust every remote possibility.

From a purely human standpoint, their cry is perfectly understandable: ‘We are utterly heartbroken, spending our last precious hours with our baby boy. We’re not allowed to choose if our son lives and we’re not allowed to choose when or where Charlie dies‘. Upsetting, bewildering, devastating. Totally. We can sympathise with that. But – and it’s a big but – there comes a point at which letting go is a greater good than saving biological life. The medical team know this. They know it is not good for Charlie to be subjected to all that is keeping him alive, or to further futile treatment. And they have sworn to ‘do no harm’. But the parents are desperately trying to save him.

I can only hope that when the decision is made that Charlie should be allowed to die with dignity the parents will be allowed to set things up for those last precious days, hours, minutes, in such a way that they will feel like a real family saying a gentle farewell, free from the bitterness and resentment that has characterised this painfully extended battle.

Well-meaning public and outsiders
The nations’ hearts bleed for these parents. Of course they do. Hundreds of thousands of Joe Bloggs have rushed to sign a petition supporting them. The Pope has reached out to them: the Vatican hospital is at the family’s disposal and will gladly look after Charlie. The President of the USA has assured them of support from across the Atlantic; Charlie has now been granted permanent residence status in the US to allow him to be transferred and treated there. On the face of it, all very compassionate and caring. But hey, let’s not forget the realities here.

None of these people has any idea what this disease means; most have never even heard of the condition (mitochondrial DNA depletion syndrome) or the supposed possible treatment (with nucleosides), never mind knowing the exact circumstances in this particular case. Not even the medical expert from the States who was flown in to consult with the GOS team this week knew the full picture until he’d done tests and held long meetings with Charlie’s doctors. So, laudable though it is to care, this kind of blind support can in fact be counter-productive. Only those people intimately involved are qualified to say what is the right thing to do. And as for those misguided people who’ve attempted to intimidate the medical personnel responsible for Charlie, even to the point of issuing death threats – words fail me. But the extremity they represent should be a cautionary tale to the rest of us: the public are not experts. Crowd hysteria, vitriolic rhetoric, are no substitute for calm, measured, informed debate.

There’s going to be no happy outcome here, it’s a desperately sad and difficult case, but let’s not join in the demonising of the experts – medical or legal – who are only doing the horrendously difficult job that their years of training and experience equip them for, and doing it with the utmost discretion and integrity.

 

 

 

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Mitochondrial donation – a lifeline or an historic mistake?

Imagine you’re in your late thirties. You have one child of eighteen months, Mia. Beautiful, much loved, and long awaited. But Mia is suffering from a devastating disease which is damaging her brain and other organs, she can’t eat or sit up or smile, she has frequent seizures. More than that, you know that you, her Mum, carry this disease; you are the one who passed it on to her. She has at most a couple of years to live. Before she even reaches school age you will be attending her funeral. And any future children would be very likely to inherit the same condition and go the same way.

Now imagine a doctor tells you you could have a child who is healthy and free from this terrible disease. Indeed that he could wipe it from your family entirely. For ever.Newborn baby

Now you’re talking! It’s a no-brainer surely. Who in their right mind would say no?

Ahh … well, there are some people – a lot of people actually – who would say to you: ‘No, I don’t want you to be allowed to have this healthy baby. And I’m going to campaign with all my might to stop it being legal for you to do so. I have my healthy normal kids, but you are condemned to heartache and loss because of a quirk in your genetic makeup. And my moral indignation trumps your biological rights.’

Yep, you’ve twigged. We’re talking about mitochondrial diseases. The mitochondria’s the bit outside the nucleus which doesn’t pass on any personal attributes but which helps to produce energy; the so-called power house of the cell. And faults in this area can result in terrible life-limiting diseases. Journalists talk about ‘three-parent babies’, but that’s an emotive and misleading and singularly unhelpful term. Does anyone refer to infants born via artificial insemination by donor in this way? or surrogate pregnancies using donor eggs? and yet they are more three-parent than the mitochondrial variety. Because only a miniscule amount of mitochondrial DNA (less than 0.001%) is from the donor, none of it responsible for the characteristics of the resultant child; almost all of what the infant inherits is in the nucleus, and 100% of that comes from the parental couple themselves.

On Tuesday this week parliament debated whether or not the UK should become the first country to permit mitochondrial donation to eradicate severe debilitating diseases of the mitochondria. Permission was approved. It’s worth noting that the UK has one of the most rigorous regulatory systems in the world when it comes to reproductive medicine and these various stages of consultation and approval are one aspect of that rigour.

Once again, though, up jump the zealots and pontificators and detractors – they’re attracted to developments in the field of fertility like iron filings to a magnet. But this time it’s not just the usual extreme suspects who are objecting, even the Church of England spokesmen on medical ethics are using terms like ‘irresponsible’, ‘an ethical watershed’. Why? QuestioningWell, at its heart is this factor: the procedure will fundamentally change the genetic makeup of an embryo in such a way that it will alter the inherited characteristics not just of one single individual but of future generations: modification of the germ line. The changes will be passed on; there’s no going back. And who really knows what might result from that? Nobody, that’s who. Nobody can guarantee the long term effects, because we have no data (human at least). None exist. It’s a new procedure (although in reality work has been going on for 15 years behind the scenes in preparation for this moment), but potential increased risks such as premature aging and cancer have been mooted. OK, three scientific reviews have concluded that it is unlikely to be unsafe, but it’s also a fact that scientists do not fully understand the interaction between the nuclear DNA and the mitochondria, which leaves some important questions unanswered.

However, for me this balance of risks and benefits falls into the same category as Lord Saatchi’s Medical Innovation Bill. When the chips are down, when there is nothing but bleakness, tragedy and death ahead, isn’t there a case to be made for well-informed patients/parents to take a calculated risk? We aren’t talking about offering this procedure to the rank and file of childbearing couples after all; only a minority for whom the alternative is too terrible, too heartbreaking, to contemplate. Don’t all scientific discoveries take a leap of faith at some point? Of course the researchers and scientists need to keep working to explore optimal conditions and refine techniques and enhance safety, but that’s true of even the now-common procedures like IVF. If mitochondrial donation is allowed, the children born this way will need to be monitored closely for the rest of their lives, and their children after them. Every step will be scrutinised minutely.

The HFEA Act requires that the embryo be treated with special respect. Quite right too. Few would argue. Misunderstandings are much more to do with the perceptions of what is proposed. So let’s clarify. Scientists are NOT trying to enhance humans in any way, they are not even trying to alter a child’s characteristics. They are aiming to prevent crippling and often fatal diseases and avoid couples now and in the future suffering the incomparable heartache of losing their children in these tragic potentially-avoidable circumstances.

Religious adherents may protest loudly, and indeed in our democratic society, they have a right to their opinions, but what of the Biblical injunctions: Do to others as you would they should do to you, and judge not that you be not judged? Should a Jew or a Muslim or a Roman Catholic or an evangelical Christian or whoever impose their specific viewpoint on Mia’s Mum? On society in general? These are terribly difficult and painful moral and personal issues which affect couples at a very fundamental level. What gives others the right to dictate, I should like to know?

Religious objections aside, a valid sticking point for a lot of people is one of safety and timing. Pre-clinical safety tests have not yet been concluded, and until the results of those investigations are known, it does seem premature to rush through new legislation.

So, we aren’t there yet. Now that the new legislation has passed this week’s hurdle, it comes before the House of Lords on 23 February. If it’s successful then there follows a careful and exact and rigorous process of trials. Caution is the name of the game just as it was with IVF; scientists agonised waiting to see if those babies were healthy. It’s possible the first human trials could begin in October this year, with the first babies born in autumn next year.

The idea that this is some form of malign genetic manipulation is nonsensical, but I did smile at the terse letter to the Telegraph from a man in Aylesbury:

GM crops, bad; GM children, good. How very strange.

He could go far in the literary world but perhaps not the scientific.

What do you think?

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Topical stuff

I know my antennae are always tuned to pick up the merest sniff of medical ethics but this week has been a veritable bonanza in the media. Would these headlines grab you too, I wonder? Do the questions trouble you?

Liverpool-pathwayThe controversial Liverpool Care Pathway, for example. Designed to ease the final hours or even days of a terminally ill person’s life: is it being abused? The son of an elderly woman who died in an Edinburgh hospital thinks so. He has accused her doctors of ‘murdering’ her, and the newspaper headlines certainly make the case sensational. At the moment the circumstances are being investigated by the Scottish Fatalities and Investigation Unit, and if anything suspicious is found, it will trigger a police investigation – the first relating to an individual death to be officially dealt with in this way. How do you feel about the LCPathway?

3-parent babiesThen there’s the major news that this country is set to become the first in the world to approve the creation of so-called three-parent babies – a way of allowing couples with major defects in their mitochondria (the bit around the nucleus that contains around 37 of the total 2,000 genes) to have healthy children who don’t die young. What a stooshie that’s causing! And that’s in spite of the fact that it’s the nucleus that carries all the genes for looks and behaviour. And you’re saving babies and parents terrible suffering and distress. Ah yes, BUT it’s genetic modification on human beings, with permanent results for generations to come. And the nucleus and mitochondria don’t operate in isolation; they talk to one another. And the mitochondrial cells control metabolic functions. Who knows what you might be unleashing … and unable to reverse. How say you?

Mandela decisionsThousands of miles away there’s another scenario playing out that currently has the media here in a frenzy. 94-year-old Nelson Mandela is on life-support machinery. The world reveres this man. His countrymen are fervently praying for his recovery. He has six children, 17 grandchildren, and 14 great-grandchildren, who are riven by disagreements and conflict at a time of private sorrow. Decisions about allowing life to end are notoriously difficult – in this case they are set against a nations’ wishes, cultural diktats, family feuding, in the full glare of the media’s eyes. Who should decide? What should they decide?

The joy of lifeRock guitarist, Wilko Johnson, (real name John Wilkinson) is dying of cancer but he’s been inspiring millions with his up-beat approach to the life he has left and his sheer humanity. He had no idea apparently until he saw so much emotion at his farewell concert, that people felt a real personal affection for him. He knows cancer intimately – his wife, his mother, and co-founding member of Dr Feelgood all died of it; he has no faith to sustain him; and yet, in many ways he says, he feels more alive than ever, and a special joy in existing, because he knows every day is special.  How would you respond?

Gene copyrightSpeaking of cancer … should companies be allowed to put a copyright on the genes that cause the disease? Myriad Genetics patented the two major breast cancer genes, BRCA1 and BRCA2, even though the search for the genes was a collaborative effort by thousands of scientists, many of whom were publicly funded. The firm also holds European patents on tests for the disease. In practical terms this means that the UK might be at risk of infringing copyright laws (with all the consequent lawsuits and outstanding royalties) with their own tests using publicly available genetic data. When Angelina Jolie revealed her double mastectomy, she drew attention to the cost of genetic testing (in the region of $3,500). What do we in the UK with our free-at-the-point-of-need NHS make of all this? What do you think?

Phoned decisionsI could go on, with this week’s tales of and life-and-death decisions being made over the phone;

Opt-out donationand Wales approving a system of presumed consent for organ donation, oh and altruistic organ donation (in journals and weekend supplements); and … but I won’t. Your brains are probably crying out for rest after the questions I’ve already thrown into your court.

By way of light relief, in between all this heavy-duty thinking, and working on the publication of Over my Dead Body, I’ve been reading Melisa Hill’s Before I Forget. It’s about a girl whose memory is destroyed in an accident. From the blurb it sounded to be close to my interests, so I picked it up in a supermarket. But … oh dear. Not my kind of thing at all. Style of writing, plotting, characters – I wanted to edit everything. And yet she has THE NUMBER ONE BESTSELLER plastered over the cover.  She’s published by one of the big firms: Hodder. Ho hum!

 

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