How ‘unanimous and clear’ was the medical evidence in Indi’s case?

Indi Gregory died after judges ruled it was in her best interests not to continue receiving treatment. Andrea Williams explains how evidence that she could have benefited from further treatment was not properly considered.

Controversial ‘end of life’ legal cases have now become a familiar part of Britain’s national life.

Many of those cases turn on ethical and legal issues – parental rights, definition of death, the conceptual elusiveness of ‘best interests’ in choosing between life and death – rather than any dispute between medical experts.

However, the latest such tragic case, that of Indi Gregory, cannot be fully understood without unravelling the medical issues. Mr Justice Peel may have said that the medical evidence was “unanimous and clear”, but on examination, it was not so simple.

Indi had three major diagnoses:

1. The rare genetic mitochondrial condition called D2L2 hydroxyglutaric aciduria. That disease undermines energy generation in the body, causing muscle weakness, brain degeneration, and organ failure. Since that disease was discovered a few years ago, less than 50 cases have been reported in scientific literature. Among those, life expectancy ranges from 2.5 months to 30 years. There are experimental treatments which scientists believe have good potential – they cannot cure the disease altogether, but they can neutralise its harmful effects. The evidence of the efficacy of those treatments is theoretical and anecdotal – there have not been enough patients to test them systematically in practice. Three such treatments were attempted on Indi: phenybutyrate therapy, citrate therapy, and a ketogenic diet.
2. Congenital Hydrocephalus, which is an accumulation of excess fluid in the brain. That was treated in Indi with a surgical operation where a ventriculo-peritoneal shunt was fitted to drain the excess fluid.
3. Tetralogy of Fallot, which is a combination of four heart defects. Simply put, she had a hole in her heart. That condition is treatable and is normally repaired by surgery in the first year of a child’s life. That possibility was discussed in Indi’s case, but the cardiologists were told by the treating doctors that Indi’s life expectancy was extremely short in any event. On that basis, while it was possible to perform the operation, it was decided that Indi was “not a candidate for surgery” because of her other diagnoses.

Which of those made Indi dependant on artificial ventilation? Throughout her life, she suffered from sudden drops in oxygen levels and difficulties with breathing. To respond to that, doctors had to provide ventilation in various forms on and off – from high-flow oxygen to bag and mask to invasive intubation. Those episodes became less frequent after starting the experimental treatments for Indi’s mitochondrial disease. Yet they did not cease, and eventually Indi became dependent on artificial ventilation for the last two months of her life.

The theory advanced by critical care consultants in Nottingham was that the breathing difficulties were because of the brain damage from the mitochondrial disease. On that basis, once all experimental treatments had failed to prevent breathing problems, Indi’s prognosis was without hope.. They believed that there was nothing further doctors could do to help, growing breathing difficulties reflected progressive deterioration of the brain, and she was in terminal decline.

Yet this theory was no more than an educated guess. No neurologist confirmed that the breathing problems were caused by brain damage, the extent of that damage, or that it was getting worse. The theory was not supported by any modern brain scans such as MRI. The brain damage was assumed simply because the doctors in Nottingham could find no plausible alternative explanation.

Indi’s father repeatedly sought the Court’s permission to instruct independent medical experts in mitochondrial disorders, neurology and cardiology. Mr Justice Peel refused such permission on the grounds that opinions of narrow experts were “not necessary” – the treating doctor (anonymised by the Court and codenamed “Dr E”) was a broad specialist in critical care and was taking a “holistic view”. Dr E had also consulted with such other specialists as he thought appropriate, and could give hearsay evidence about their opinions.

The Court of Appeal agreed with that approach.

The first occasion when Indi’s father could lawfully instruct his own experts was when making an application to the European Court of Human Rights.

Despite the extreme urgency of the process, it did not take long for the experts to give a very different view about Indi’s condition and prognosis.

Having reviewed over 5,000 pages of Indi’s medical records, the consultant paediatric cardiologist, Professor Mark Walsh concluded that her breathing problems were “most likely” caused by her treatable heart condition, Tetralogy of Fallot.

It could be treated in two ways. Professor Walsh agreed to rule out a surgery, but an alternative way was a non-invasive, pain-free “catheter procedure”, where a catheter, also known as a stent, would be inserted into Indi’s right ventricular outflow tract via one of the vessels in the groin. Professor Walsh concluded it was “more likely than not” that the catheter procedure would prevent further breathing problems, enable Indi to live without artificial ventilation, and give her time for treatment of the mitochondrial disease.

Another expert, an eminent medical geneticist and an author of a major study of mitochondrial diseases, Professor Aneal Khan from the University of Calgary, dispelled the pessimism over Indi’s D2L2 hydroxyglutaric aciduria. Professor Khan pointed out the evidence that the experimental treatments given to Indi had already caused an improvement in her condition, but would require months or even years to achieve their full effect. The brain impairment appeared to be successfully managed with a VP shunt, which was the standard treatment, and there was every possibility that Indi could survive with a “positive” and “comfortable” quality of life.

The evidence of Professor Walsh and Professor Khan was not accepted by the first by the Hospital and then by the High Court. The evidence was dismissed on the grounds that it was not “holistic” but instead “compartmentalised” Indi’s various conditions. Mr Justice Peel refused even to hear out the experts’ analysis of diagnoses, prognosis and treatments because it contradicted the “holistic” analysis in his original judgment – which labelled Indi’s condition “devastating”, “incurable” and “fatal” without going into much detail.

Given all this, just how “unanimous and clear” was the medical evidence in Indi’s case?

It seems that medical evidence that might have thrown doubt on the hospital’s position was excluded from the courts as they made their decisions. How can a judge be so sure that withdrawing treatment was in Indi’s best interests when, with other expert doctors in charge of her care, she may  have received different treatment and her condition may have improved?

Whatever else needs to change in the law and practice about end-of-life cases, any restrictions on the family’s right to instruct their own medical experts are indefensible. Parliament must urgently legislate to ensure such an injustice may never happen again.