Frederick Heath Paling (a child proceeding by his Mother and Litigation Friend Michelle Paling) v Sherwood Forest Hospitals NHS Foundation Trust
| Jurisdiction | England & Wales |
| Judge | Master Sullivan |
| Judgment Date | 07 December 2021 |
| Neutral Citation | [2021] EWHC 3266 (QB) |
| Docket Number | Case No: QB-2020-002812 |
| Year | 2021 |
| Court | Queen's Bench Division |
[2021] EWHC 3266 (QB)
IN THE HIGH COURT OF JUSTICE
QUEEN'S BENCH DIVISION
Royal Courts of Justice
Strand, London, WC2A 2LL
Master Sullivan
Case No: QB-2020-002812
Rachel Vickers QC (instructed by Irwin Mitchell LLP) for the Claimant
Charles Bagot QC (instructed by Browne Jacobson LLP) for the Defendant
Hearing dates: 18 October 2021
Approved Judgment
I direct that pursuant to CPR PD 39A para 6.1 no official shorthand note shall be taken of this Judgment and that copies of this version as handed down may be treated as authentic.
The claimant brings a clinical negligence claim for serious brain injury said to have been caused due to hypoglycaemia following his birth. The claimant alleges the defendant failed to adequately treat the hypoglycaemia and that led to a brain injury. The defendant has made some limited admissions in respect of breach of duty but causation is in issue between the parties.
So far as it is relevant, the claimant's case on causation is that the cognitive, behavioural and emotional deficits from which he suffers were caused by damage to the brain caused by hypoglycaemia in the period shortly after his birth. There is no dispute that he suffered hypoglycaemia, the issue is whether the hypoglycaemia led to any brain injury. The defendant has not yet provided a defence but the letter of response states that “there is no clear evidence of a prolonged period of hypoglycaemia associated with neurological function and there is no evidence in the documents that the claimant suffered permanent brain injury as a result of hypoglycaemia. The claimant is put to proof.”
The defendant has made an application for the court to order that the claimant, and both his parents, provide a blood sample for the purpose of genetic testing and in default that the claim be stayed. The defendant is of the view that there is possibly a genetic cause for the claimant's condition which is unrelated to the actions of the defendant. The defendant therefore contends that testing and expert evidence in the field of genetics is reasonably required in order for the Court to determine the issue of causation.
They seek to obtain evidence prior to service of the defence so that they can plead matters relating to any genetic cause of the claimant's condition in the defence, should it be relevant.
Genetic testing
It is not in dispute that in order to undergo genetic testing, a blood sample is needed. The testing proposed, including whole genome sequencing, is not a test looking for specific genes or abnormalities, it would examine the entire genetic sequence to identify any genetic abnormalities, relevant to the issues in this case or not. It would do so for the claimant and for both his parents – this is said to be required as the interpretation of any DNA change in a child relies on comparative analysis with the parents.
Before undergoing genetic testing, the claimant's parents would need counselling as to the testing. The testing proposed could identify unrelated matters such as the identification of positive mutations for an adult onset degenerative disease or early onset cancers. It is possible for people to decide to undergo the testing but to restrict what information they are given, so the claimant's parents, if they were to undergo testing, could elect not to be given any information about their own genetic sequencing or the claimant's insofar as it is not relevant to the claim.
The basis of the application
The defendant recognises that the claimant has expert evidence which supports his case that the brain injury is caused by the hypoglycaemia. Dr Connolly, Paediatric Neuroradiologist, is noted to be of the opinion that the appearances of the white matter of the occipital lobes on MRI is, on the balance of probabilities, most likely due to damage to the occipital lobes from a period of neo-natal hypoglycaemia.
The defendant relies on and has served expert evidence in support of its application. I set out that evidence in summary. The claimant has not produced any evidence in reply.
An MRI scan of the claimant's brain was undertaken on 1 May 2019 for medicolegal purposes. Scans were taken earlier in the course of his treatment. Dr Halpin, Consultant Neuroradiologist, reviewed the scans in a report dated May 2021. He states in conclusion “both scans show no evidence of the sequalae of neonatal hypoglycaemia…the clues to clinically significant neonatal hypoglycaemia lie in focal atrophy, usually seen in the occipital and parietal lobes. There is no focal atrophy in this case…. There is no evidence on these scans of the sequalae of neonatal hypoglycaemia.”
Dr Rennie, Consultant in Neonatal Medicine, has provided a letter dated 25 January 2021. She states “From the neonatal perspective, based on the information I have seen, Frederick does not have the typical outcome of a baby who sustained brain injury due to symptomatic neonatal hypoglycaemia, and it is clear there is a difference of opinion between experts about his MR brain imaging…In my opinion the court would be assisted in experts in paediatric neurology and genetics when considering the cause of his difficulties.”
Dr Agrawal, Consultant Paediatric Neurologist, has provided a letter dated 8 June 2021. He states that the claimant clinically presents as someone with Asperger's syndrome, an autistic spectrum disorder. He states the exact cause of Asperger's is unknown and whilst it is largely inherited, the underlying genetics have not been determined conclusively. Environmental factors are also believed to play a role and brain imaging is often normal. He felt that the claimant's clinical profile could only be ascribed to neonatal hypoglycaemia if it is established in court that there is radiological evidence of brain injury. In his opinion, the claimant's clinical profile on the balance of probabilities is secondary to his IUGR 1 and unknown polygenic factors. He does not come across as a child with a specific neurogenic syndrome. He says in cases such as this it is commonplace in his clinical practice to perform whole exome sequencing (WES) 2 which looks at the entire exome of the individual and “has nearly an 85% chance of revealing a genetic diagnosis if one is present.”
I pause to note here that there has been no genetic testing of the claimant by his treating clinicians, and I understand no suggestion that it should be done.
Dr Reardon is a Consultant Clinical Geneticist. He has provided a letter dated 20 May 2021. He starts by commenting on what he describes as several important points so as to put into context the potential role of genetic testing. The family history is normal, the claimant is not dysmorphic, he has no clinical neurological findings of significance, he has no history of ongoing epilepsy and no ongoing issues of recurring hypoglycaemia. Dr Reardon then considers first whether genetic testing would be helpful in determining whether the neonatal seizures the claimant suffered in the relevant neonatal period had a genetic cause, secondly whether the neonatal seizures
i) Perhaps 40% of neonatal seizures have a genetic basis. Most, but not all such patients require ongoing treatment for such disorders. Characteristics of many of those conditions described as genetic forms of neonatal seizures involve significant developmental impairment, often severe mental retardation. In an unbiased population of babies presenting with neonatal seizures, genetic profiling can have a beneficial value in identifying underlying diagnosis and modifying management in about 20% of all cases, including seizure presentation. He was of the view that is not how this claimant presents and on the balance of probability it would be more likely than not to result in negative test results. He also notes that DNA changes can occasionally be found that are uninterpretable as they haven't previously been reported.
ii) If the seizures were caused by hypoglycaemia, the fact of normal family history, non dysmorphic presentation and absence of neurological signs would count against the hypothesis of another genetic disorder. But genetic investigation would offer the possibility of identifying a mild mutation in a known syndromic disorder. However, not many children with the sort of functional deficits the claimant presents with have been analysed and there are no publications to assist with the likelihood of a positive finding.
iii) There are estimates which suggest upwards of 50–60% of neonatal hypoglycaemia may be genetically attributable however the basic facts of this case tend to suggest this generalisation would not apply.
iv) Overall he is of the view that there is a 20–25% chance of identifying a causal mutation for his deficits. He says this is only an estimate but is one which is based on experience and published findings.
Dr Reardon states that samples would be required from the claimant and both his parents and he suggests investigations for fragile X expansion, for High Density Chromosomal microarray analysis and for Whole Genome Sequencing. There is no mention of WES testing as suggested by Dr Agrawal.
Dr Reardon states that he is of the view that more limited testing would not be appropriate given the somewhat obscure nature of the clinical sequalae claimed in this particular instance. I take that to mean that there is no suspicion of a particular mutation or particular genetic syndrome which would mean testing could be limited...
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