England and Wales Court of Appeal (Civil Division) Decisions

IN THE COURT OF APPEAL (CIVIL DIVISION)
ON APPEAL FROM THE HIGH COURT OF JUSTICE
QUEEN'S BENCH DIVISION
HHJ ROBINSON (SITTING AS A HIGH COURT JUDGE)
HQ08X02333

		Royal Courts of Justice Strand, London, WC2A 2LL
		13/02/2014

Lady Justice Rafferty:

1. Richard Meiklejohn ("the Claimant") was born on 20 January 1972. Sadly, he died after the hearing of this appeal. The doctor whose professional standards he criticizes is Professor Judith Marsh ("Prof Marsh") one of the UK's leading experts in aplastic anaemia ("AA") a life-threatening failure of formation of blood cellular components. In March 2003 she was Reader in Haematology at St George's Hospital Medical School a national tertiary referral centre for AA whose Director was Professor Gordon-Smith, himself a leading authority in AA. In November 2003 she was appointed to the Chair in Clinical Haematology at St George's.
2. In 1993, at 21, the Claimant was diagnosed with thrombocytopenia, macrocytic anaemia and hypocellular bone marrow with an overall diagnosis of AA. A watch and wait policy was adopted. Characteristic signs are reduced red and white blood cells and platelets and an hypocellular bone marrow. Most cases of AA are acquired, the majority idiopathic. Mercifully rare, in the UK about 150 new cases of AA are seen annually, about 50 by Professor Marsh. In 2003 some, thought inherited, were known as inherited bone marrow failure syndromes ("IBMFS") and included Fanconi's anaemia ("Fanconi's"), and Dyskeratosis Congenita ("DC").
3. Telomerase ..."TERC" or "hTR") mutations were in 2001 discovered in the relevant gene. Its inherited form is autosomal dominant, requiring only a single copy inherited from either parent.
4. The clinical signs of DC were for some time described as the classic triad ("the triad"): abnormal nails, reticular skin pigmentation and oral leucoplakia (white thickened patches).
5. After 2003, research revealed that the TERC mutation might not always be inherited, and November 2005 tests on the Claimant suggested his was not inherited. Consequent on the emerging science DC as a form of inherited AA is described as constitutional (not acquired) AA.
6. This case turns upon events on 25 March 2003 and thereafter. Dr Amos had referred the Claimant to Prof Marsh who on 25^th examined him and took a history whose nature and extent are in issue. She diagnosed and explained non-severe acquired AA. Following her advice the Claimant as an in patient on 7 May 2003 began a 5 day course of standard treatment, Anti Lymphocyte Globulin ("ALG"). A side effect, serum sickness, was treated with the corticosteroid Prednisolone of which a rare side effect is avascular necrosis ("AVN"), of which he was not warned. He developed it and had bilateral hip replacements. Oxymetholone, a synthetic hormone alternative to ALG for treatment of AA is one treatment for DC. In issue is whether ALG is appropriate for DC.
7. At their first consultation in March 2003 Prof Marsh took blood samples and sent one to Professor Inderjeet Dokal a world and almost certainly its foremost expert in DC. Issues at trial included the purpose for which she did so. 11 November 2005 analysis disclosed the TERC mutation and the results were sent to Professor Marsh on 17 November 2005 when a diagnosis of DC was explained to the Claimant. He rejected another course of ALG and was put on Oxymetholone.
8. The Claimant's case before HHJ Robinson, the DCJ at Sheffield sitting as a High Court Judge, was:

i) The 25 March 2003 clinical examination was inadequate. There were sufficient clinical features present to raise a high index of suspicion of (constitutional) DC

ii) Prof Marsh was wrong to diagnose acquired AA and to begin ALG before she had excluded DC.

iii) She should have warned the Claimant of the Prednisolone side effect, AVN.

iv) Even assuming the correct diagnosis were AA she should have discussed alternative treatment, in particular Oxymetholone.

v) She acted unlawfully when without the Claimant's express consent she took a blood sample to send to Professor Dokal.

vi) She should have chased up the results and not begun ALG before they were available. DC would have been diagnosed very much earlier, Oxymetholone begun, Prednisolone and thus AVN avoided.

9. The Judge found as facts:

i) In 2006, the Claimant had grey hair, a receding hair line and some brown spots on the back.

ii) In 2006 his skin seemed to be rather dry in general.

iii) In 2006 his nails looked rather thin but there was no obvious dystrophy.

iv) There was no nail discolouration in 2003 or in 2006. This feature did not manifest itself until about 2010 when discolouration of the big toe nail was noted by Prof Dokal.

v) There was ridging of the nails in 2003, but no other obvious abnormality. Prof Dokal's 2006 finding "the nails looked rather thin" cannot be taken as indicating that this was so in 2003. This appeared to be a developing symptom, noted as more marked in January 2011.

vi) There was no relevant pigmentation on the forehead in 2003. Changes in pigmentation on the forehead were not noted until 2011.

vii) Brown spots on the back in 2006 do not appear to have become relevant until 2011 when Prof Dokal noted "questionable pigmentary changes on the back". Prof Marsh said that she did not see any spots on the Claimant's back. She examined the Claimant's torso and there were no relevant skin pigmentation features to be seen on the Claimant's back.

10. Before us his Grounds of Appeal were:

i) The Judge erred in finding adequate verbal consent to participation in Prof Dokal's research. Given sufficient information the Appellant would have received different treatment and avoided his injuries.

ii) Additionally or alternatively there was a breach of the duty to obtain informed consent, a complaint as to causation: Chester v Afshar [2005] 1 AC 134.

iii) The Judge erred in concluding that the blood test was for research without clinical utility and carried no expectation of a result before treatment.

iv) In finding no breach of duty by Prof Marsh in recommending ALG the Judge neither considered nor determined that she failed to advise of possible diagnoses and alternative treatments.

v) In concluding she was not negligent in having failed to suspect DC the Judge did not take into consideration clinical features at presentation, consider and/or explain aspects of the medical literature, and explain his conclusions regarding the 2003 relaxing of the triad criteria.

vi) The Judge failed to apply the correct standard of care to the country's leading specialist in an extremely narrow field and relied inappropriately on 2009 Guidelines in referencing a 2003 standard of care. He attributed too much emphasis to the UK:US divide and not enough on knowledge/literature by 2003.

vii) The Judge erred in ordering costs and damages should be set off.

11. The Judge heard evidence over eight days, accepting submissions in writing at a later date. The Claimant gave evidence and called as to fact Mrs Katherine Adams who described him as her best friend and who was at the consultation with Prof Marsh in 2003. She was an experienced Senior Sister in A&E. He called as an expert Prof Eva Guinan Associate Professor of Paediatrics at Harvard Medical School. Prof Marsh gave evidence and called Prof Dokal, Prof Gordon-Smith and Prof Cavenagh, the latter solely as expert. Dr Amos and to an extent Prof Dokal as to fact.
12. Prof Dokal in March 2003 was Reader/Honorary Senior Lecturer in Haematology at Imperial College and Hammersmith and St Mary's Hospitals and by September 2006 at Barts and The London Chair of Child Health among other appointments. In 1995 he established the international Dyskeratosis Congenita Registry ("DCR") "to understand the pathophysiology of aplastic anaemia and related disorders with the long term aim of developing new treatments for patients lacking compatible haemopoietic stem cell donors".
13. Prof Gordon-Smith in 2003 was Director of the Department of Haematology at St George's. Prof Marsh was part of his team. He explained standard practice in 2003 for taking blood samples.
14. Prof Cavenagh, Consultant Haematologist at Barts and the London and Clinical Lead in Haemato-Oncology, sees adults with AA. He wrote: "Prof Dokal has recently referred Mr Meiklejohn to my clinic since... a bone marrow transplant...may be appropriate ...I have not yet seen him...and I do not consider there is any conflict with my duty to the Court." The propriety of his position was in issue.

Synopsis

15. The DC classic triad is leukoplakia, nail dystrophy and reticulate skin pigmentation. Leucoplakia is at least one thickened white patch on mucous membrane in the mouth and on the tongue, which cannot be rubbed off. Nail dystrophy covers a range of abnormalities including regression, discolouration and ridging. Reticulate (now "abnormal") skin pigmentation is a networked pattern of darker skin.
16. The Claimant suggested that though in 2003 he lacked any feature of the triad he showed some of other subtle features which might be present. His case is not that Prof Marsh should have reached a working diagnosis of DC but that her index of suspicion should have been higher when she reviewed the combination of physical findings added to his clinical history. She should have asked Prof Dokal to expedite his work and shortly after the samples were sent she would have read what took until November 2005 to convey. Different treatment would have been agreed and spared him AVN.

The 25 March 2003 Consultation

17. The Claimant said:

"..Prof Marsh took some details of my past history and examined me for the signs of AA (eyes, pallor, blood pressure and respiratory sounds) but did not perform a full body examination. My fingernails and toe nails were ridged at the time, as they always have been, and I was very much greyer haired than I had been as a teenager. She ordered more comprehensive blood tests and a bone marrow biopsy. Professor Marsh suggested a probable diagnosis of acquired AA and recommended….(ALG) as the treatment. I was not advised that there was any other possible form of treatment …".

18. He said that not including the blood work the consultation lasted 15 to 20 minutes or perhaps longer but far short of what Prof Marsh described as her standard practice of an hour to an hour and a half. He agreed there had been detailed discussion of treatment, diagnosis, and his clinical history including enquiry about his family with a view to bone marrow transplant and that Prof Marsh suggested he might have Fanconi's. He knew blood would be required to test for Fanconi's. He said he was not told some blood would be used for research.
19. He showed the Judge photographs dated May 2010 which he suggested showed abnormalities of his hair, skin and nails then and in March 2003.
20. Mrs Adams said the entire 25^th March appointment lasted fewer than 10 minutes. The physical examination lasted about a minute and did not include skin or nails in any detail and did not include legs. After an immediate diagnosis of AA a lot of the meeting was the explanation of ALG. She could pinpoint those signs evident at the consultation once, later, she knew DC was diagnosed. She did not recall discussion about inherited conditions, in contrast to the Claimant, who did.
21. Prof Marsh explained that the average consultation with a new patient lasted one to one and a half hours. She took a detailed clinical history and performed a clinical examination. Fanconi's was routinely mentioned but not other rare types of inherited AA such as DC, save for her saying that other much rarer types existed. Enquiries about family history were limited to possible transplant donors, Fanconi's, and to general medical problems. She did not recall odd pigmentation on his back, his nails and skin were normal and nothing led her to suspect inherited AA.
22. She said the most common form of DC was the triad. She knew of research by Prof Dokal and of work in the USA starting to identify other genes. She knew that of 17 patients with idiopathic DC whom Prof Dokal had screened 2 had the Terc mutation but not the classic triad symptoms. Any significance of this finding was unknown. The significance of receding greying and thinning hair as subtle signs of DC was evolving: there was no research to show that in a patient with AA they indicated DC. She did not have a raised index of suspicion that the Claimant might have DC and rejected the suggestion that despatch of the blood sample showed otherwise. She routinely sent samples for Prof Dokal's research. The Claimant's history of macrocytosis was a very common feature of AA which did not help determine whether he had the inherited form. AA is a diagnosis of exclusion though she looked for clinical signs of DC. There was no doubt - this was a barn door case of acquired AA.

Ground 1, informed consent, the blood sample for research and Ground 2, additionally or alternatively a breach of the duty to obtain informed consent: Chester v Afshar [2005] 1 AC 134.

23. It is convenient to consider these Grounds together.
24. The Judge recorded that it was agreed the Claimant did not give his written consent to a sample of his blood being taken and sent to Prof Dokal and that whilst there was no system for obtaining written consent - as clearly there should have been - there was a system for seeking verbal consent. He found that Prof Marsh did tell the Claimant she wished to send blood for research and that he gave verbal consent.
25. The submission is that this was an impermissible equating of verbal (or for that matter written) consent to the legal requirement for informed consent which requires provision of the fullest possible information in understandable terms followed by consent in writing. The Judge is said to have considered the second step but not the first. The contention is that the information Prof Marsh gave the Claimant was insufficient for informed consent so that Prof Marsh was in breach of duty. Mr Booth QC in support of this proposition relied upon medical literature, evidence as to fact and the expert evidence.
26. Prof Marsh accepted that in research one must take particular care to give the fullest information and that in this case the absence of written consent supports the argument that informed consent was not obtained.
27. In finding that verbal consent was given and was sufficient consent for Prof Dokal's research purposes, the Judge is criticized as having failed to consider that informed consent for the specific genetic research project was necessary and that insufficient information had been provided to enable it: Sidaway v Bethlem Royal Hospital [1985] AC 871. The developed complaint is that in accordance with Chester v Afshar [2005] 1 AC 134, causation should follow to give purpose to the breach.
28. Significant difficulties attach to these arguments. First, it was accepted at trial that written consent should have been obtained to participation in identified research. The Judge made no bones about it when he said :

"there was no system for obtaining written consent – as clearly there should have been."

29. Second, though the submissions supporting Grounds 1 and 2 advance the proposition that the sample sent to Prof Dokal was for research purposes, as the Judge found, that supporting Ground 3 (the Judge should have found that the sample was submitted for clinical testing with an eye to treatment) means that the Judge for the same finding is both criticized and lauded.
30. Reconciling and understanding these submissions is not without difficulty. However, whatever their merits, there is a straightforward route to my conclusion. The Claimant relies on this passage from the judgement:

"It is agreed that the Claimant did not give his written consent to a sample of his blood being taken and sent to Professor Dokal. Professor Marsh says that she obtained his verbal consent for a sample to be sent for research purposes. The Claimant says he knew nothing about any blood being sent to Professor Dokal for any purpose. Had he known, he says he would have asked about the research with the result that he would have wanted to consider treatment options."

31. His difficulty is that the Judge went on to reject his evidence. He said:

"I am satisfied that Prof Marsh did tell the Claimant that she wished to send some of his blood for research and that verbal consent was given."

He reached that primary conclusion on the facts after hearing from the Claimant, from Katherine Adams, and from Prof Marsh.

32. The real argument Mr Booth sought to advance before us, in reliance upon Chester as to causation, was in my view that the seeking of written consent would have led to the Claimant rejecting ALG and avoiding AVN.
33. In Chester a surgeon non-negligently recommended surgery with a low risk of a disabling condition of which he did not warn and which the patient endured. It was agreed that he should have warned her. The Judge found that, warned, she would have taken time to reflect but probably undergone the surgery albeit on a different day with a different surgeon. All five of their Lordships concluded that she failed on causation since the surgeon's breach of duty had not increased the risk of her suffering the complication but three thought public policy merited an exception to traditional rules on causation.
34. Chester is at best a modest acknowledgement, couched in terms of policy, of narrow facts far from analogous to those we are considering. Reference to it does not advance the case for the Claimant since I cannot identify within it any decision of principle.
35. In any event the founding argument advanced is unsupported by the evidence. Prof Marsh told the Judge she would have recommended ALG and Prednisolone and said that they were needed in the near future. She would have concluded, absent the triad, that it was very unlikely the Claimant had DC. Indeed even if DC or other possible treatments had been discussed, her evidence was that she would still have recommended ALG with Prednisolone, first line treatment for the acquired AA she suspected, absent any evidence to the contrary.
36. The hurdle the Claimant cannot clear is his attitude to Prof Marsh. He told the Judge in terms that he trusted her and would have done what she advised. This is likely to be the root of the Judge's conclusion:

"even if alternative treatment options had been discussed, it is clear that Prof Marsh would have recommended ALG with Prednisolone and the Claimant would have accepted that advice".

37. The sole expert voice contending for the absence of informed consent was that of Prof Guinan. However, even she agreed with other experts that were the blood sent only for research, recommended treatment should not have varied dependent upon whether Prof Marsh obtained consent. She underlined that position by telling the Judge:

"Whether you get [informed written consent] should not change your therapeutic decision. It's independent".

38. The Judge said:

"To the extent that it may be argued that had administration of Prednisolone been postponed to another occasion, AVN would probably not have developed, there is simply no evidence in support of such a proposition. On the contrary the only evidence on this issue also came from [Prof] Cavanagh….he was asked if the susceptibility of a person to the effects of Prednisolone might vary over time. Dr Cavanagh said that this was not so. He said that if a person is susceptible to develop AVN as a result of the administration of Prednisolone, this will not wax and wane over time. There was, he said, no plausible biological reason for that. He explained that he gave this opinion, which he described as a hypothesis, as a clinician who has administered steroids to a wide range of patients. His opinion was that the Claimant developed AVN because he had a significant predisposition to develop that condition. When challenged that there was "no science on that" he replied "except that AVN is a recognised side effect in patients who have DC". Mr Booth put his case clearly when he suggested to Dr Cavanagh that statistically, if ALG and Prednisolone had been administered at a different time, the Claimant would have been unlikely to have developed AVN. Dr Cavanagh disagreed, saying that the individualised risk of the Claimant developing AVN consequent upon the administration of Prednisolone was "close to 100%". Thus I have no hesitation in concluding that it was not negligent to fail to discuss with the Claimant the remote risk of the claimant developing AVN as a result of the administration of Prednisolone. That being so there is no scope for identifying a remedy for a breach of duty, as in Chester, because there is no breach of duty. Moreover, even if the risk had been disclosed, the Claimant would have accepted the advice to undergo ALG treatment with Prednisolone, not least because he would have been told that there had hitherto been no case of anyone treated with the low dose regimen at St George's ever going on to develop AVN. Finally, even if alternative treatment options had been discussed, it is clear that Professor Marsh would have recommended ALG with Prednisolone and the Claimant would have accepted that advice. Oxymetholone is a treatment which itself carries significant risks of side effects, as Dr Cavanagh mentioned in evidence when describing a patient who had lost half their liver as a result of administration of Oxymetholone. ALG is the first line treatment for AA."

39. With this lucid and unimpugnable conclusion I agree. I would reject these two Grounds.

Ground 3, error in interpreting the purpose of the DC test

40. On any view this is a challenge to findings of fact. The Judge concluded that, whilst there was some form of expedited DC test effectively available from Prof Dokal were a clinician to ask for it, his was not a screening service. The sample had been sent purely for research purposes.
41. Prof Marsh wrote in her clinical notes "... D congenita screen" and in her 7^th April follow-up letter to Dr Amos "Fanconi anaemia negative and Dyskeratosis congenita screen awaited" She explained in evidence that her use of 'screen' was a careless mistake and the Judge accepted this. He also accepted that Prof Dokal was not performing a DC screen or test "by virtue of which a clinician could insist upon a blood sample being tested or screened for genetic mutations consistent with DC" but he accepted that Prof Dokal could expedite the DC test on specific request.
42. Those two documents written by Prof Marsh, in which 'screen' is used, were several days apart. Two "careless mistakes" several days apart seems to the Claimant extraordinarily unlikely and much more likely is that Prof Marsh intended to use that term. The Judge wondered, no more, whether the noun disclosed "a form of vanity". More importantly in the submission of the Claimant the Judge failed to address Prof Marsh's use of "awaited" in the Claimant's clinical records. Prof Marsh said she wrote it incorrectly or inappropriately, the explanation for which the Claimant contends is that she believed the test might be of clinical utility.
43. Once again I do not find it easy to align submissions founding this complaint with those founding another, on this instance Ground 5. There the complaint is that Prof Marsh obtained an inadequate history, performed an inadequate examination, made an inadequate record and wrongly failed to suspect DC before proceeding to treatment for acquired AA. Ground 3 on the other hand suggests she sent off the test as of clinical utility. She could only have done that were she to suspect DC and want confirmation before going further. Exactly that was put to her, only to be refuted.
44. The Judge relied on the oral evidence of Prof Dokal that he could not offer a screening service because he lacked the resources. He wanted to provide a service which coupled practical clinical applications with research. The Judge accepted his evidence and found that Prof Marsh was astute to the limitation on what Prof Dokal could do. It is worth remembering that Prof Dokal did not offer a NHS service. His work was funded by a private entity. An NHS clinician, asking him for help in a clinical setting, was the petitioning party. As it was pithily put to the Judge, human nature is that the consultant who shouts loudest often secures the result.
45. Those findings of fact, plainly open to the Judge on the evidence, are squarely against the foundation for Ground 3. That is not an end to the difficulties in the way of the Claimant. The 7^th April 2003 follow-up letter to Dr Amos can hardly support sending off for a screen to determine treatment when the body of the letter announces what that treatment will be.
46. The Judge accepted the evidence of Profs Marsh and Dokal that she sent to him samples on one of two bases: Her patient had signs and symptoms of DC, she sought a result within a reasonable period and ALG could wait, or she sent samples from all new apparently acquired AA patients for research, not suspecting DC and not awaiting the result before starting treatment. He accepted that the second was her reason for sending the Claimant's sample.
47. Other evidence supported her. Prof Gordon Smith would send samples on the first basis but knew that she sent on the second. Prof Guinan agreed that such an arrangement, that is the one Prof Marsh adopted, would be useful.
48. The alternative, that she suspected DC and wanted the result of the screen to determine treatment would in my view have been difficult to justify. Her letter to Dr Amos flew in the face of it and it had the advantage of near contemporaneity.
49. This Court has repeatedly emphasised that it will be slow to allow appeals on fact which, as Mr Booth QC was obliged to concede, is the position on this Ground.
50. For all the reasons I have set out I see no basis for impugning the Judge's findings.

Ground 4: erring in analysis of Prof Marsh's failure to advise of other possible diagnoses and treatments

51. This Ground is advanced as an error of law.
52. Concluding that Prof Marsh raised Fanconi's with the Claimant but not that any other IBMFS was discussed the Judge said

"even if alternative treatment options had been discussed, it is clear that Professor Marsh would have recommended ALG with Prednisolone and the Claimant would have accepted that advice".

This conclusion is said to relate to alternative treatment options for acquired AA only, whereas the Claimant's allegation related to inherited AA such as Fanconi's and DC and their treatment options, primarily Oxymetholone.

53. Prof Marsh said that on 25^th March 2003 the Claimant had a 10% chance of an IBMFS and a 2-3% chance of DC. The Claimant relied upon this assessment as establishing risks greater than those which made it incumbent on the clinician to discuss alternative diagnoses or treatments in Sidaway, Chester and Birch v University College London Hospital NHS Foundation Trust [2008] EWHC 2237 (QB).
54. The Judge is criticized for failing to recognise that Birch is authority for a breach of duty based on the failure to advise/inform of comparative/alternative diagnoses and treatments. He argues that risk of alternative treatments being greater or not goes not to breach of duty but to causation, since a patient is entitled to know possible diagnoses, especially when his is one of exclusion.
55. Mrs Birch had a cerebral catheter angiogram. She was warned of a 1% risk of stroke, went ahead and non-negligently suffered a stroke. Cranston J held that she should have had the option of an MRI scan, less invasive and with far lower risks of complications.
56. With great respect to Cranston J this was a first instance decision, and was not about comparative diagnoses and the risks of different treatments but about the failure to inform of alternative investigations and their risks. I am not sure how much if at all it contributes to the learning necessary to reach a conclusion in this very different case. I have not found it useful.
57. The submission earlier advanced is here repeated: Given information which was his due, the Claimant would have drawn breath, found out about DC and the purpose of the blood sample, and the causative chain relied upon in Ground 1 would have been triggered. Alternatively Chester would apply.
58. Though advanced as a point of law this submission is in my view largely if not entirely on the facts and consequently will attract the customary reticence of this Court to interfere with the findings of the trial Judge.
59. With pellucid clarity he set out his conclusions as to how the Claimant presented in March 2003. The Claimant had some grey and receding hair, no nail discolouration, ridging but no other obvious abnormality, and no obvious thinning. (Prof Dokal found no nail dystrophy even as late as 2006). There was no pigmentation on the forehead. The Judge was satisfied that Prof Marsh examined the Claimant's torso and accepted her evidence that no relevant skin pigmentation features were seen on his back.
60. He said:

"….I am satisfied that there was simply not enough in the Claimant's physical presentation or history to put even a clinician of Professor Marsh's standing on the alert [for DC]…..There was nothing in the clinical presentation or history of the Claimant in March 2003 to cause Professor Marsh to suspect that the Claimant had DC. She was justified in not so suspecting."

61. These are classic findings of fact. To succeed, the Claimant must persuade this court that Prof Marsh, with no grounds for suspicion, was obliged to tell him he might have DC and/or discuss treatment for an inherited/constitutional AA, Oxymetholone.
62. The duty to advise and warn about diagnosis, treatment and possible side-effects is to be assessed in accordance with the practice of a responsible body of such doctors: Bolam, and the majority in Sidaway v Royal Bethlem Royal Hospital [1985] AC 871. The duty to warn of possible alternative diagnoses reasonably not suspected is not a proposition for which either is authority. Sidaway and Chester alleged failure to warn of the specific percentage risks of serious identifiable side-effects of surgery. In Birch the risk was explained but a less risky alternative was not.
63. None of those cases is akin to the position here and none assists the Claimant.
64. I do not accept that the evidence did in fact establish that the Claimant had on 25^th March 2003 a 10% risk of an inherited condition (paragraph 54, supra). Most of the 10% referred to had Fanconi's, which had been excluded on 25^th March 2003 by a simple blood test. Neither am I persuaded that he had a 2-3% risk of DC. He had none of the triad, all three of which were, seen together, characteristic of DC.
65. Prof Marsh, who must have mentioned Fanconi's because the Claimant recalled it, said she asked patients like him whether they would agree to a blood sample to aid ongoing research into AA. She did no more than agree it was "not optimal" for her not to have mentioned DC when taking the sample. That said, her opinion was that he had no clinical features of it, was highly unlikely to have it, and that had it been mentioned that is exactly what she would have told him. That is not an admitted breach of duty and it does not assist the Claimant.
66. She said it would "not be the normal approach to [discuss eg Oxymetholone] for adults with acquired AA. Inherited forms are far less frequent than acquired AA and if, having made a clinical examination and taken a history, I was clear in my mind that he did not have an inherited form it would therefore be acceptable to discuss treatments for acquired AA..."
67. The Judge accepted this as entirely reasonable. I agree with him.
68. Finally on this point, the Judge made a factual finding:

"even if alternative treatments had been discussed, it is clear that Prof Marsh would have recommended ALG with Prednisolone and the Claimant himself would have accepted that advice"

and he pointed out that Oxymetholone itself has a significant risk of serious side effects.

69. His view was amply supported by the evidence and I agree with him. My conclusion is fatal to the Claimant's submission as to alternative treatments.

Ground 5: erring on the facts in relation to the medical evidence and literature

70. The criticism is that the Judge failed to analyse the literature, the submission is that a family member with the triad was not required for diagnosis of DC.
71. The Judge concluded that Prof Marsh did not need to suspect DC because the Claimant did not present with the triad and

"There was nothing in the clinical presentation or history of the Claimant in March 2003 to cause Professor Marsh to suspect that the Claimant had DC. She was justified in not so suspecting. There was no negligence"

72. He found the only feature the Claimant had in 2003 consistent with DC was ridging of the nails. He said:

"In retrospect it can be seen that some features exhibited by the Claimant are consistent with [DC] [but there was] simply not enough in the Claimant's physical presentation or history to put even a clinician of Professor Marsh's standing on the alert."

73. It is true that the Judge did not refer to the paper published by Prof Dokal in 2007 about the Claimant in 2006 having "patches of hypopigmentation on his back" and premature "grey hair from the age of 13".
74. However the Judge was well aware of the way the Claimant put his reliance on the literature. He said:

" A variety of papers show that from about 1996, patients with DC had been found to be exhibiting symptoms outside the classic triad."

He concluded that these were:

"retrospective studies of patients who either had been related to a patient who had exhibited the classic triad or who had been diagnosed with DC as a result of genetic testing"

75. In other words, in 2003, in patients without the triad, to diagnose DC either (a) a family connection with a triad DC patient or (b) a positive genetic DC test would have to have been established.
76. It is conceded that the Claimant neither satisfied the triad in 2003 nor even what the Judge described as the "relaxed" revised diagnostic criteria published in 2006: Vulliamy et al (including Dokal) 2006: Changed criteria for a entry into the DCR; previous requirement triad:

"Initially, families were included only when the index case presented with the triad of diagnostic mucocutaneous features (nail dystrophy, leukoplakia, and abnormal skin pigmentation). As it became clear that not all DC patients have all these features, we have extended recruitment to include families in which the index case has 1 or more of these mucocutaneous features, combined with a hypoplastic bone marrow and at least 2 of the other somatic features known to occur in DC"

77. The Claimant argues that the triad was not in 2003 mandatory for a diagnosis of DC. Were it otherwise 100% of patients with DC would have it, yet the literature confirms that such was not the case. That medical knowledge that DC could present absent the triad had come about by a retrospective analysis the Claimant suggests is not relevant. He contends it was "the unarguable state of knowledge of specialist AA experts by 2003 regardless of how that knowledge came to be."
78. Before us a good deal of time was devoted to a review of the literature in an attempt to make good that contention. The Judge is criticised for the terseness of his approach to it. I agree with his approach and intend to adopt it. It seems to me that an exhaustive trail through perhaps 60 papers is unnecessary and possibly countervailing. The literature, though interesting, has not been shown to support the Claimant's argument. This case concerns a diagnosis reached in March 2003. The governing standards were those applicable to clinicians who, assuming competence, should have been familiar with the then state of medical knowledge and medical science about AA and DC.
79. The Claimant emphasized he did not and does not suggest he should have been diagnosed with DC, merely that Prof Marsh should have suspected it. He seeks to fortify that by listing features consistent with DC with which he presented before her.
80. He faces obstacles to the success of that submission. Prof Dokal, whose expertise no-one challenged, was on anybody's view a DC expert. Colleagues could hardly have expressed themselves more warmly when they spoke or wrote of him. He told the Judge that in 2003 the diagnostic tool was the triad. Its component parts bear repeating: abnormal nails, reticular skin pigmentation and oral leucoplakia (white thickened patches). All three are mucocutaneous.
81. In 2006, the year of publication of revised diagnostic criteria and after he knew the Claimant had DC, Prof Dokal having examined the Claimant wrote:

"Imp[ression]. V[ery] little in way of mucocutaneous features."

82. This examination was three years after that by Prof Marsh. It was common ground that clinical features of DC worsen over time, and yet, in 2006, the world's arguably foremost expert on DC was not recording signs to suggest it.
83. Apart from early greying of his hair the Claimant could point only to his nails as of relevance to the diagnosis for which he argued. Early greying was not one of the triad known to be characteristic of DC, it was merely recognised as one somatic abnormality which (with hair loss and/or sparse eyelashes) was found in only 16% of patients diagnosed with DC: Dokal "Dyskeratosis Congenita in all its forms" (2000) British Journal of Haematology.
84. As to nails, in his 6^th March 2006 letter Prof Dokal wrote "there is no obvious dystrophy" of the Claimant's nails. The Judge found only ridging and no other abnormality. No expert suggested that ridging alone amounted to dystrophy, which would be required were the nails to qualify for the triad. Asked whether the Claimant would have fallen into the constitutional AA category Prof Dokal said:

"I would probably have classified this as constitutional AA but not other clinicians. Even for me this is borderline. Possibly I might have done but I might not have done".

85. To brown spots on the back in 2006 Prof Dokal attached very little significance. Even by 2011 they had progressed no further than "questionable pigmentary changes on the back" 8 years after the 2003 consultation with Prof Marsh.
86. In the paper about the Claimant, whilst Prof Dokal did indeed write:

"He had avascular necrosis of the hips, patches of hypo-pigmentation on his back and grey hair from the age of 13 years old"

he concluded that sentence with:

"but no other signs of DC."

87. As the Judge recorded, having identified the only consistent (and insignificant) feature, grey hair, Prof Dokal wrote "It is still now [2012] not easy to see the triad" some nine years after the examination by Prof Marsh.
88. BCSH 2009 Guidelines (lead author Prof Marsh with Profs Dokal and Cavenagh) repeated the 2003 Guidelines passage about DC but added:

"Some affected patients may have none of these clinical features and the diagnosis is made later after failure to respond to immunosuppressive therapy."

89. This is a far cry from support for the contention that the Claimant's presentation and history in March 2003 should have prompted suspicion, let alone diagnosis, of DC.
90. Finally, and comprehensively demolishing the Claimant's argument on this topic, a review article by Professor Dokal in 2009 in the BJH quoted by the Judge read:

"...we need to move away from the very rigid initial diagnostic criteria of the presence of the mucocutaneous triad of skin pigmentation nail dystrophy and oral leucoplakia. In the absence of an internationally accepted diagnosis the best criteria still appears to be that of Vulliamy et al (2006)"

91. This is yet more compelling evidence that in 2003 it was reasonable to proceed on the basis that, for a clinical diagnosis of DC there had to be the triad. However the position for the Claimant is worse. Even if one were to consider mere suspicion, that the patient had not one of the triad and only one other somatic abnormality amongst the 17 listed by Professor Dokal would still not have prompted an expert to suspect DC.
92. I reject the contention that the Judge mixed up the requirements for diagnosis with suspicion of DC. He repeatedly reminded himself that he must be careful so to distinguish. Nor, as I have tried to make clear, did he fall into error in identifying factors which would tend to position a patient in one category or the other.
93. Though I, like the Judge, have elected not to set out an exegesis of the science by reference to the literature, I consider that it supported his conclusion that:

"there was simply not enough in the Claimant's physical presentation or history to put even a clinician of Professor Marsh's standing on the alert."

94. In 2003 the Claimant had prematurely grey hair perhaps with some thinning but not one of the 17 somatic abnormalities also seen in DC set out by Prof Dokal. No author suggested that a patient should be diagnosed with, or even suspected of having, DC with none of the triad. No publication suggested that applied to the Claimant it showed he had qualifying criteria for suspicion, let alone diagnosis, of DC.
95. Alone among the experts Prof Guinan thought DC should have been suspected in March 2003. Even she did not suggest it should have been diagnosed. She identified features to suggest that it should not have been excluded and that a nuanced discussion about treatment should have been instigated, with both ALG and Oxymetholone considered since AA and DC were potential diagnoses.
96. She classed herself as in the same category as Prof Marsh, one of the top 20 AA experts in the world. Prof Dokal she described as a "very well regarded expert in the area of DC." She was a bone marrow doctor with an interest in bone marrow failure. In 2003 her clinical commitments comprised 3 days per week patient work, which included supervising the majority of bone marrow patients. Since 2003 she has reduced her clinical work to do more research. At her busiest she was seeing an AA patient every other week, but that included established as well as new patients. In 2003, the aggregate number of patients she saw in a year was 25. She conceded she lacked extensive experience of DC.
97. The professional experience upon which she relied as founding her opinion was susceptible to a number of disadvantages which the Judge identified. Distinguished in her field, nevertheless she practised in the USA whereas this case fell to be assessed by the standards of UK medicine in 2003. Prof Guinan had as a young doctor worked for six weeks in London in an unconnected discipline. Differences in approach included one aptly summarized by Prof Cavenagh, dealing with Prof Guinan's criticisms of Prof Marsh's failure to record negative findings in her clinical notes. Explaining that Prof Marsh's record was perfectly adequate and that Prof Guinan spoke from the American stance, triggered by medico-legal considerations, he said:

"They record all potential negatives. I don't and I don't see why Professor Marsh should".

98. Prof Guinan had on the one hand the luxury of seeing perhaps only 4 patients per clinic. Set against that was the sheer number of patients seen by an UK specialist of parallel repute, such as Prof Marsh, who would expect to see as many as 20. She also suffered what the Judge described as "the clear disadvantage" of never having examined the Claimant, in contrast to Profs Marsh, Dokal and Cavenagh.
99. The Judge summed up his conclusion:

"Professor Guinan had approached this case by reference to standards in the USA rather then in the UK, and, try as she might, she had been unable to consider this case from a prospective basis, but instead has looked at it in retrospect. We all know now that the Claimant has DC. In retrospect it can be seen that some features exhibited by the Claimant are consistent with that diagnosis. But what conclusions should have been drawn by a clinician who did not have the luxury of knowing that the Claimant had DC? I was impressed with the evidence of Dr Cavenagh on this issue. I felt that he more accurately directed his mind to the difficult analysis of what an AA specialist in the UK would have concluded in the light of my findings concerning what there was to discover in March 2003."

100. I agree with him. For the reasons I have explained I would reject this Ground on all the arguments advanced.

Ground 6 the Judge failed to apply the correct standard of care and approached the expert evidence in an unfair and inappropriate way when applying it to the standard of care to be expected of a super-specialist in a tertiary referral centre

101. The Claimant argues that the standard of care set out in Bolam requires Prof Marsh to be judged against a responsible body of medical practitioners skilled in her particular art, namely an AA specialist working out of a specialist AA tertiary referral centre in 2003, a leader in the field of AA in the UK and enjoying international renown. He complains that nowhere did the Judge acknowledge her international renown. He criticizes the Judge for failing to consider breaches of duty which he argues are greatly more relevant to a nationally-leading super-specialist.
102. He argues that Prof Cavenagh, whose evidence impressed the Judge, is not for these purposes of equivalent status to Prof Marsh and he listed a number of justifications for that demeaning. Prof Cavenagh saw but 5 AA patients a year in both in 2003 and when he gave evidence. He was and is a myeloma specialist and his interest in AA had increased recently. He described Profs Guinan and Dokal as "super-experts" dedicated to IBMFS and Prof Marsh as the pre-eminent AA doctor. He conceded that he had no such reputation. The Judge was given a list of negatives, including bodies upon which Prof Cavenagh had not sat.
103. Finally under this Ground the Judge is said to have overemphasized the UK:US divide. The Claimant asserts that he had no alternative but to use an expert from abroad because of Prof Marsh's dominance in the UK.
104. The first difficulty in the way of this bold submission is the position adopted by the Claimant below. He argued that the standard of care against which Prof Marsh's actions in 2003 should be judged was that of a Consultant Haematologist specialising in AA in a tertiary referral centre at that time. The Judge asked whether that were controversial and was reassured that it was not.
105. It is now suggested that a top-layer should be imposed upon the standard against which Prof Marsh is to be measured with the addition of "a leader in the field of AA in the UK and who has an international renown".
106. I am not persuaded that it should. No authority was shown to us to support the proposition. That said, in any event the Judge was astute to standing and renown. He referred to "…even a clinician of Professor Marsh's standing….".
107. In my view the correct comparator was that advanced before the Judge, a tertiary specialist in AA. That is why Dr Amos referred the Claimant to her. I notice that Dr Amos was not invited to indicate that he relied in his choice upon her international renown.
108. As to the US:UK divide, the Judge had a clear and well-expressed view of Prof Guinan's claim to be of help to him. I have set it out and do not repeat it. Her limited experience in and more importantly of UK medicine in this regard was obviously relevant. It was also a matter for the Judge to identify and justify his reliance upon one expert rather than another. I have set out my conclusions on that topic and do not repeat them.
109. I do not wish to leave this Ground without comment on the position of Prof Cavenagh. Leveson LJ as he then was refused permission on a Ground repeating coruscating criticism as a freestanding contributor to the Judge's conclusion and counsel has not sought to renew an application to argue it. Nevertheless the status of Prof Cavenagh was roundly challenged under the heading of Ground 6 and argument advanced to establish that he came nowhere near the status of Prof Guinan and his expertise should not have been preferred to hers.
110. Prof Cavenagh's department, a tertiary referral centre for AA, is one of the largest clinical haematology units in the UK seeing AA patients from a referral population of 2.5 million. He was a member of the committee which had written the 2009 guidelines, plainly a prized distinction.
111. The Judge preferred his evidence to that of Prof Guinan. Rejecting in the strongest of terms the aspersions Prof Cavenagh had had to endure he said:

"I have to say I was very impressed with Dr Cavenagh. He struck me as a solid sensible clinician who did have an appropriate expertise in AA such that his evidence was of real assistance to me in this case. I thought there was real force in his evidence contrasting the positions in the UK and in the USA, and also the status of Professors Guinan and Dokal contrasted with others."

112. Prof Cavenagh had been obliged to answer the charge that he was a disgrace to his profession. The basis for the slur appears to be that having accepted instructions before he met the Claimant he ought not to have treated him on referral by Prof Dokal or he should have withdrawn from the case. It was put to him that he sought to abuse the relationship of doctor and patient so as to advance the case for Prof Marsh, suppressed the fact that he had sent blood samples to Prof Dokal for active testing in a clinical situation, was not impartial, was too close to Professor Marsh, and was not independent of Prof Dokal, working in the same institution as and accepting referrals from him.
113. I notice too that during cross-examination Prof Marsh was accused of having lied.
114. It seems to me noteworthy that the Judge not only rejected the criticisms absolutely but went on to express how helpful and reliable he found Prof Cavenagh and to exculpate Prof Marsh from any suggestion of untruthfulness.
115. HHJ Robinson has vast experience in the field of clinical negligence. He is not only a highly regarded DCJ regularly hearing such issues but was a practitioner in that area at the Bar. He will have chosen his words with care. I would in any event pay deference to his status and to his experience, but the force with which he expressed himself is not lost on me. His conclusions, formed after an eight day trial, as to which expert he preferred and why are unimpeachable. As to the probity of distinguished clinicians, obliged to defend a lifetime of service to medicine, I adopt without reservation the Judge's assessment.
116. I reject Grounds 1-6 of this appeal for the reasons I have given.
117. As to Ground 8, not only is this court particularly reluctant to interfere with an exercise of discretion on costs but also the Claimant identified no unfairness, presumably because, as the Judge said, "The balance of justice is all one way". I reject this Ground.

Lord Justice Tomlinson:

118. I agree.

Lord Justice Laws:

119. I agree.