What is Hurler’s Syndrome?
Mucopolysaccharidosis Type I (Hurler’s syndrome) is a rare congenital metabolic disorder in which a defective or missing enzyme causes complex sugar molecules to accumulate in harmful amounts in the body’s cells and tissues. The disease causes permanent progressive damage to the skeleton connective tissue and organs. Babies with this disease appear to be normal at birth but then rapidly deteriorate as the harmful substances accumulate in their body. Without treatment the deterioration will inevitably lead to early death with very little development and poor quality of life.
Since the late 1990s it has been possible to treat the disease with bone marrow transplant. Successful transplant halts the progressive deterioration due to the disease and leads to a rapid catching up in cognitive development; however transplant has no effect on the progression of orthopaedic disease.
The timing of the transplant is important as it prevents further cognitive deterioration. Transplant between 12-18 months can result in close to normal outcomes. However children transplanted between 18-24 months show poorer outcomes because the cognitive damage has already progressed and after two years of age benefits of transplant are negligible.
Delayed diagnosis for our client
Unfortunately, one of our clients suffers from this disorder, and despite her Paediatrician ordering blood and urine tests to rule out Hurler’s syndrome not long after she was born, this was not followed up. As a result her disease was not diagnosed until August 2001 and she had a bone marrow transplant in December 2001 when she was 22 months and 11 days old.
A Letter of Claim was served in September 2005 and the Defendant responded in September 2006, admitting breach of duty for an 8 ½ month delay, but denying causation. In effect the Defendants relied on the mantra of ‘he who asserts a fact must prove it’ and invited the Claimant to adduce evidence to show that on a balance of probability the delay in performing the transplant had led to any measurable additional damage.
Obtaining expert medical evidence
This was easier said than done. This is an extremely rare condition with only 100-200 surviving transplant patients worldwide. The Paediatrician we had instructed initially had reached the limits of his expertise. The Claimant was being treated at one of only two centres in this country with any expertise in the disease and it was through her consultant that we were eventually able to contact Professor Shapiro, Neuro psychologist, of the University of Minnesota who is probably the world’s leading authority on the cognitive effects of Hurler’s syndrome and persuade her to give an Opinion in the case. Her view that the delay in transplant for the Claimant meant the difference between an IQ of 46 (moderately impaired) and one of 75 (below average but still functional in the mildly impaired range) was one that proved impossible for the Defendants to challenge.
We asked a Care and Occupational Therapy expert to consider the impact on the Claimant’s needs of a reduction in IQ from 75 to 46. We also obtained a report from a cardiologist who confirmed that the Claimant’s heart was unaffected by her disease. This was considered important because heart defect is the primary cause of death in patients with this condition.
However when we served our evidence on the Defendants they responded that the Claimant’s orthopaedic impairment (which was not affected by the delay) would in itself give rise to the need for care irrespective of the cognitive impairment. Therefore we had to obtain evidence from an orthopaedic expert specialising in Hurler’s syndrome as to the Claimant’s condition and prognosis. The care expert was then asked to reconsider her report and the impact of the cognitive impairment on the Claimant’s ability to manage her own orthopaedic disabilities now and in the future.
Following service of this additional evidence the Defendant agreed to a joint settlement meeting. The Defendant had had the Claimant examined by a paediatric neurologist and had instructed a Care expert; however they served no expert evidence and confined themselves to commenting upon the Claimant’s Schedule of Loss. The issues of the additional care levels and the extent to which the Claimant would have been capable of independent living and work remained in dispute. Following negotiation we were able to achieve a compromise whereby the Claimant received a lump sum of £225000.00 and periodical payments of £30,000.00 to age 18, £37500.00 age 18-21 and £90,000.00 thereafter. Given the impossibility of obtaining evidence as to life expectancy (it is reduced but the data does not allow for any meaningful assessment) a periodical payments order was the only way forward. The capitalised value of the award is the equivalent to approximately £2.9 million assuming full life expectancy.
The Claimant lacks capacity. Proceedings were issued for the Court to approve settlement which it did on 26 May 2016.
There is no doubt that this represents an excellent outcome for the Claimant and her family. It was achieved in large part due to the input from Professor Schapiro and as such justifies the sheer persistence of the Claimant’s legal team in their determination to find the answer to the challenge posed to them by the Defendant. This is one of the most unusual cases we have ever pursued. Its importance to the Claimant and her family could hardly be over emphasised and the award achieved is life changing.