Case No. YO21C00174

24.I heard from both Dr Irving and Dr Saggar. Their evidence concentrated upon the finding of a Variant of Unknown Significance (“VUS”) identified in the genetic profiling of A’s gene, known as BMP1. Dr Saggar explained that A may also have inherited Hypermobility Spectrum Disorder (“HSD”) from his Father, who was diagnosed by Dr Saggar upon examination as having suffered from HSD. Accordingly, the twins had a just greater than 50% chance of inheriting this condition. Upon examination A was found to have with some characteristics, including a Beighton score of 6 out of 10, compared to his brother of 4 out of 10, and other minor features. 25.The relevance of the VUS and possible HSD was the possibility that this may impact upon the bone density of A and therefore his bone fragility. If A suffered from some form of lowering of bone density and thus bone fragility, as a consequence either of the genetic mutation found of the Variant of Unknown Significance or because of HSD, then the question arose as to whether or not this was of clinical relevance. The key question to consider was whether A might suffer fractures that children without such abnormalities would not suffer. The evidence therefore concentrated both on the mechanism and the level of force from the known accidental events. If A did suffer any reduced bone density it was agreed to be at the very mildest end of the spectrum and that an excessive force, more than rough handling, would still be required.26.Various research papers were considered by both experts and explored in cross-examination. The papers did tend to indicate that children with osteogenesis imperfecta, agreed to be an umbrella term for reduced bone density, may because of the BMP 1 variant suffer reduced bone density that would cause fractures that would not otherwise have been sustained in a child without such a variant. Additionally, consideration was given as to the impact of HSD and various studies again tended to suggest that there was some connection between HSD and bone fragility. However, A had not suffered any further known fractures since April 2021, a factor considered important by both experts, notwithstanding that A had not suffered any similar accidents and was somewhat cosseted by his current carers.27.The Clinical Geneticists essentially agreed with each other, although I found that Dr Saggar was perhaps more cautious in the way in which he approached the scientific uncertainties that undoubtedly surrounded this relatively new area of medical research and expertise. Dr Irving was more firmly of the view that there was no evidence that this child had reduced bone density or that he had any predisposition to fractures from a lesser force. Dr Saggar whilst tending to agree with the evidence of Dr Irving was also of the view that there may have been a small and mild reduction in this child’s bone fragility which would not have caused spontaneous fractures and nor would his bones fracture easily. The consensus emerged that the likelihood is that the mechanism of causing such fractures would not alter, but what would potentially alter was a reduction in the level of force that needed to be applied for fractures to take place. Dr Saggar accepted that the variant that he had found in A was a Class 3 variant, likely to be benign, but he could not exclude that it had some clinical impact. Additionally, he was of the view that this child probably did suffer from being on the Hypermobility Spectrum Disorder. My note that summarised the essence of Dr Saggar’s evidence is as follows:- “If you have bone fragility but no other features of OI it is not known if fractures can happen without a force that is not normal. What I can say is it won’t be rough handling and you will need some form of excessive force, but it may be of a lesser force and type that would cause a fracture. I accept that this is a single copy gene which makes it much less likely that it will have an impact on bone fragility, but if he has bone fragility in the absence of classic OI it will be less severe so you will still need a force that is more than rough handling.”28.The upshot of his evidence was that he remained cautious because of the recessive nature of this genetic variant. The research papers quoted to him seemed to give Dr Saggar pause for thought and he was far less ready to dismiss the possibility of bone fragility and fractures being caused by a slightly lesser force than would otherwise be the case. However, the possibility of clinical significance still remained low. 29.I was then assisted by the Consultant Paediatric Radiologist, Dr Barnes. Dr Barnes gave helpful evidence, deferring where appropriate and was conscious not to stray outside the area of his expertise. In terms of dates of the fractures, Dr Barnes conceded he could only give very broad timescales of less than 10 days on acute injuries, where there was no evidence of healing, to ones where he saw some healing, and some callouses. There was no remodelling of any of the bones which would cause there to be a longer time period for these fractures. The upshot of his evidence was that the acute fractures of the third, fourth and fifth posterior ribs, the right humerus and the right femur could have occurred in terms of dates consistent with the episodes on 13th and 17th April. The non-acute injuries of the seventh, eighth and ninth lateral rib fractures, the left femur and the right tibia could be consistent with having occurred on the 21st March episode. Of course, radiologically they could have occurred at any time in between those dates as well as on those dates themselves. His evidence was to clarify that the acute rib injuries were not close to the spine and were next to each other. This evidence resulted in the contemplation that the rib fractures could have been caused from a fall/ impact. 30.I finally heard from Dr Cartlidge who is a well-known Consultant Paediatrician with vast experience of assisting these Courts.31.In general, I found Dr Cartlidge’s oral evidence to be far more cautious and open to alternative explanations, other than non-accidental injury, than appeared to be the case from his written reports. Dr Cartlidge considered the clarification by Dr Barnes of the position of the third, fourth and fifth rib fractures not being fully posterior fractures. His view changed so that the mechanism could include a fall from the changing table as well as a squeezing action. Additionally, there would not necessarily be a bruise from the fall if the surface upon which the child fell was relatively flat and substantial. The metaphyseal fractures would likely require a twisting force to be applied. Grabbing a child in panic in an attempt to prevent a fall could be consistent with such a force. Additionally, the child’s presentation as described by the parents immediately following his fall and at the hospital, was consistent with an acute event of rib fractures having occurred at the time of this fall on 17th April.32.In cross-examination, Dr Cartlidge conceded that metaphyseal fractures were extremely difficult to find clinically and that is why skeletal surveys were so important. He was not surprised that palpation took place upon examination several times by the treating doctors without these metaphyseal fractures being discovered.33.Dr Cartlidge was questioned extensively about the three episodes of accidental falls, with the mechanisms described, and if they could explain the fractures and injuries found upon A. In his written evidence Dr Cartlidge was clearly of the view that in the absence of bone fragility the three episodes would not sufficiently explain how it was that A sustained such injuries. However, upon cross-examination of his reasoning, the impression I had from Dr Cartlidge was that so much was unknown about the precise details and mechanisms of the falls sustained, the grabbing actions in a split second by adults, and the potential for twisting actions within such falls. He was essentially telling this Court that whilst the descriptions were outwith his usual experience of how such injuries are caused, he was nevertheless in the territory of making educated guesses about precisely whether or not these episodes could account for the injuries themselves. He was not critical of the adults’ difficulty in recalling the mechanisms with precision, regarding such vagueness as understandable. I found his evidence to be refreshingly objective and very helpful to this Court. The key evidence he gave was:- “In terms of whether or not there is bone fragility and whether or not it is clinically significant, if it is present it has to be at the lowest end of the spectrum. However so far as the incidents are concerned, the force used is not known and can’t be known except potentially by the Judge. I’m having to give educated guesses.”This is an extremely helpful analysis of the extent to which the Court is assisted by expert evidence. There are clearly severe limits to the assistance that the experts can give to the Court. Dr Cartlidge said that it does come down to the interpretation of the three events and the difficulty in recalling details of events at a time when adults would not have appreciated the significance of them and that they happened with such speed. He would not expect lay witnesses to have a precise recollection of the mechanisms involved. Mildly fragile bones will fracture more easily, but excessive force would still be required. He did not agree, however, that excessive force would necessarily mean non-accidental injury, as accidental injuries as described in this case could still involve excessive force. Dr Cartlidge was therefore able to contemplate that the metaphyseal fractures were capable of being caused if the limbs were grabbed in attempting to prevent this child falling and that rib fractures could well be caused as a consequence of a fall and an impact. Dr Cartlidge essentially deferred to the court, who would hear and judge the totality of evidence in assessing if such accidental events could cause the injuries found. Thus, this expert evidence must be weighed very carefully against the lay evidence I was to later hear.34.Before turning to the lay evidence, I also heard from a treating clinician, Dr D. Dr D’s evidence concerned the information imparted to and from the parents at the hospital in the days following the final episode on 17th April. In short, I did not find any of the evidence that Dr D gave to be of concern and relevance in relation to the parents’ conduct. Indeed, the more I was directed to the medical notes and the entries in relation to the parents’ conduct at the hospital, the more it struck me that their behaviour was entirely inconsistent with that of a perpetrator. In particular it became clear that it was the parents who were directing the medics to investigate potential rib fractures and carry out x rays.35.I now turn to the lay evidence.