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We must seize the opportunity to set families free of mitochondrial disease

15 September 2014
Appeared in BioNews 771

It is every parent's nightmare to lose a son or daughter, whatever age they may be; particularly when it is to an illness or disease for which there is no treatment or cure.

I lost my son Jason in April 2011 to a mitochondrial disease. It all began 12 months prior, when he was admitted to hospital following an epileptic seizure, brought on, it was thought, by a stroke which affected his speech, movement and thought processing.

Some weeks later he was diagnosed with 'Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes', MELAS for short - one of many mitochondrial conditions. The 'stroke-like episode' he suffered was the result of lactic acid build-up.

The news was a bombshell to us all, but Jason and his fiancée were devastated and had many tearful moments, wondering if they had a future and how they would cope.

Jason worked extremely hard over the next six months and he was well enough to return to work. Sadly, a few weeks later, he suffered another mild attack, which caused him to cease work again. As it turned out, he didn't return.

In January 2011, Jason had another massive attack and was readmitted to hospital with a total loss of sight. Over the next three months he deteriorated further, due to his brain being under constant attack from the effects of excess lactic acid, until his death.

His suffering during this period was horrendous, with stages of hallucinations and total confusion. It was unbearable to watch, especially as we struggled to understand what he was suffering and what we could do to help him. Even now I keep replaying these events in my mind. Could I have done more? It is a hopeless situation and the guilt stays with you. He is a permanent fixture in my thoughts.

Jason was an intelligent and successful person: a science graduate, a senior manager in his work, with a great passion for travel, and he was engaged to be married. It was incredible how much he packed into his short life, for he was only 40 years old. Did he know something?

Jason's mother died in 1998 from a 'stroke' - it's now obvious that she also died from MELAS. She suffered for eight long years. At the end she could not walk, talk, swallow or hear. This is how cruel and hideous mitochondrial disease is.

Jason and his mother were among the unlucky (one-per-6,500) people who have severe mitochondrial damage. This ratio means that mitochondrial disease is described as rare. So in an average UK town with a population of 330,000 this equates to 50 severe cases. But as many as one in 200 people are affected to a lesser degree. This equates to 1,600 people in a typical town - not rare at all, then.

Prevention is better than cure and less costly in the long run. I strongly support development and adoption of mitochondrial donation as it gives affected families their only hope of stopping these hideous diseases permanently.

Ethically, I think it's the right thing to do. I have great difficulty understanding those who are opposed to the technique. Of course they are entitled to their beliefs and can choose not to adopt this technology for their own families. But they must not prevent others benefitting from this fantastic breakthrough when there is no viable treatment alternative.

I can only assume that some of those who object to mitochondrial donation are simply misunderstanding the technical aspects; there have been references to 'cloning', 'designer babies' and 'three-parent babies' in the media - references which are inaccurate, misleading or unhelpful. Others may be blindly following their own religious doctrine.

There is always a risk of complications with any new technique, but the risk seems small compared to what will happen should we refuse the technology. I am sure most affected families will accept the risk of the new as one worth taking. The alternative is like living on death row, waiting for the inevitable. We must be brave and lead the world; future generations are depending on us!

27 July 2015 - by Dr Dusko Ilic 
Given the complexity of the technology, costs and risks involved, two recently described mitochondrial 'gene-correction' strategies will probably remain as proof-of-concept studies and are unlikely be of practical use in clinical medicine in the foreseeable future...
2 February 2015 - by Dr Iain Brassington 
It seems to have happened very quickly: it was only in 2012 that the public consultation process about allowing mitochondrial donation to be used on humans was underway; and now – if you'll allow the pun – the first child to have benefitted from them could be conceivable in the next few months...
24 November 2014 - by Dr Paul Knoepfler 
Experimental mitochondrial replacement technology has a noble goal, but in my opinion there are too many unanswered questions and risks that remain to allow it to proceed at this time. I believe that moving forward with it would most likely be a tragic mistake for the UK...
24 November 2014 - by Professor Peter Braude and Professor Robin Lovell-Badge 
A response to the open letter to the UK Parliament by Dr Paul Knoepfler...
29 September 2014 - by Professor Frances Flinter 
Robust debate about the pros and cons of mitochondrial donation is essential, but the clinical reality of mitochondrial disorders is stark. Couples who have lost a child affected by a serious maternally-inherited mitochondrial disorder may have limited reproductive options...
8 September 2014 - by Sandy Starr 
A group of backbench MPs, led by Conservative MP Fiona Bruce, has sought to delay the laying before Parliament of regulations permitting the use of mitochondrial replacement techniques...
8 September 2014 - by Dr Ted Morrow 
The regulatory path to clinical trials of mitochondrial replacement therapy was recently debated in the House of Commons. While scientists are still unsure how genes and genomes cause disease and impact on our physical appearance and personality, there are clearly misconceptions about mitochondrial genetics repeated during the debate that are not supported by current scientific evidence...
4 August 2014 - by Siobhan Chan 
The UK Government has been accused of deliberately misleading the public in order to win approval over its plans to implement mitochondrial replacement techniques in IVF...
28 July 2014 - by Dr Rachel Montgomery 
The UK Government has announced that regulations around the use of mitochondrial replacement techniques will be presented to Parliament in the next few months...
Liar - they are donating much more than a cell ( - 20/01/2015)
This is what an actual gamete donation form looks like

It's from Stanford and note that the donating party is only allowing the recipient custody of the cell itself, not of any embryos or children.  Parental rights are not given up by real donors of mitochondria or whole gametes.  If parental rights or custody of the donor's offspring are implied as part of the agreement to donate mitochondria then what you really have is a black market adoption contract which requires the donation of mitochondria in order to create the donor's offspring for trafficking into black market adoptive arrangements.

These people will be related to the mitochondrial donor when they are born.  She would test as being their mother and so would her relatives be their maternal relatives.  The bottom line is that these people won't actually have a maternal relationship with anyone other than the donor and her relatives.  The relationship they'll have with anyone else representing themselves as their mother will be based purely on care giving or gestation not on an actual maternal relationship.

They are donating their offspring to needy infertile people its barbaric.
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