Thomas Anderson Blair Smith
One of the first English patients diagnosed with PKU
Tommy was born on 12 June 1911 in Barrow-in-Furness to Arthur and Helen Smith. His parents were Scottish, moving to Barrow between 1908 and 1911 from Glasgow. Arthur worked in ship building in Glasgow and continued this in Barrow. Tommy was the middle child of ten born between 1901 and 1924, eight of whom survived to adulthood (one died before Tommy was born and one lived for only 3 days in 1918).
In October 1921, Tommy had set wall hangings on fire and thrown his mother's purse into the fireplace. The family lived in a block of flats with a wash house on the roof – Tommy had tried to climb over high railings on the roof. It was also noted that he did not like to wear clothes and would try to remove them by tearing at them.
On 10 November 1921 aged just 10 years Tommy was admitted to Calderstones Hospital following assessments by two doctors on the proceeding days.
On 8 November 1921 Tommy was assessed by a Dr Wallace who documented various events that had led up to that point which included him crouching in the corner of the room when the doctor visited his home, struggling violently and crawling around the room on hands and knees. On the day prior to admission, he was assessed by a Dr Blandford who noted that Tommy was unreasonable and refused to speak to him. He also refused to obey his mother "who obviously has no influence over him". It was also noted that he "could not speak but screams continuously". His mother reported to the doctor that "he is getting out of hand." With both older and younger children in the household also needing care, his mother must have faced an everyday struggle to cope with Tommy's behaviour and to keep him safe.
Throughout the admission to Calderstones Tommy is described as an idiot (a classification used in mental health care at the time) and doubly incontinent, being unable to feed and dress himself. There are several reports of him having fits as well as being destructive. He is described as having a mental age of less than 3 years. On admission he was described as covered in eczema and having a clumsy gait, all symptoms of his yet undiagnosed condition.
In 1930 there is a report that he tested negative for Syphilis - something that is presumed to have a been a test undertaken to find a reason for Tommy's severe learning disability.
In 1938 Tommy's medical notes clearly state, "this patient was found to have Phenylketonuria". Phenylketonuria (PKU) is a rare inherited disorder. It was first described by Asbjörn Fölling in 1934 in Norway. The failure of the body to break down proteins in the way it should, leads to brain damage. Tommy's symptoms are now known to be typical of untreated PKU.
On the 16 May 1939, the above photograph was taken of Tommy. He can clearly be seen to be wearing the "strong clothes" that are regularly mentioned in his medical notes.
Tommy died aged 31 at Calderstones on ward C1 on 3 July 1942. The cause of death was given as multiple carbuncles, his medical notes also state that he had pyrexia and tissue necrosis. It is likely that these would today have been treatable with antibiotics and surgery.
Had Tommy been born later there is potential that he could have led a perfectly normal life due to the developments in PKU that came after his death.
Plot 78, Calderstones Hospital Cemetery
Tommy was buried in plot 78 of Calderstones Hospital Cemetery. His grave no longer has a headstone but with the assistance of another of the friends we were able to visit his plot and pay our respects to him.
Tommy shares plot 78 with 3 ladies who died at a similar time to him.
- Frances May Huntington, from Liverpool who died on 1 July 1942
- Hannah Mountford (or Woods) who died 3 July 1942
- Jane Smith (alias Woods) a widow who died 15 August 1942
Winifred, Tommy's sister, was admitted to Brockhall on 7 July 1941 aged 16. Winifred spent 6 weeks at Brockhall before dying on 23 August 1941 just 3 days after her 17th birthday.
After her short time at Brockhall, her body returned to her home town of Barrow-in-Furness where she is buried in the family grave in Barrow Cemetery.
TPhenylketonuria (pronounced as fee-nile-keytone-you-ree-ah), or PKU, is a rare but treatable inherited metabolic disorder that prevents the normal breakdown of protein. Babies with PKU inherit 2 faulty copies of the gene for PKU, one from each parent.
People with PKU have an enzyme called phenylalanine hydroxylase missing, which leads to problems breaking down the amino acid phenylalanine (found in protein). This causes harmful levels of phenylalanine to build up in the brain and blood.
14 patients with PKU
In 1937 there were 12 recorded cases of PKU in England but in July 1937 after selecting and testing the urine of 448 "low grade patients" Dr Robertson (Medical Superintendent of Calderstones) reported 14 further cases.
This letter was sent to Dr Penrose who was the leading British expert on PKU and the genetics of mental retardation.
Response from Dr Penrose
Dr Penrose replied with his desire to undertake research and visit the patient's families. It is not known if Tommy was part of this research or if his family were visited by Dr Penrose, his records did not state that he had PKU until November 1938.
PKU - 1960's
In the 1960's correspondence between Dr Carter from The Royal Hospital for Sick Children to Professor Penrose detailed their findings of the incidence of PKU in 1937 being highest in institutions in Devon, Cornwall and Lancashire but with high migration of parents and grandparents from Ireland and Glasgow.
Treatment for PKU
In 1952 the first trials of modifying dietary intake in those with PKU began at Birmingham Childrens hospital. In 1963 the first PKU dietary guidelines were released.
The treatment in the UK is a low phenylalanine diet which is achieved by avoiding all high protein foods (e.g. meat, fish, eggs, dairy, nuts, seeds, soya, tofu, beans and lentils), taking amino acid supplements 3-4 times a day, alongside measured amounts of phenylalanine must be taken every day from foods such as potatoes, cereals and certain vegetables such as sweetcorn or peas.
Over the years, the guidance on the 'age' for staying on diet has changed. Diet only in childhood was seen as necessary in the 1960s, whereas today, 'diet for life' and 'treatment for life' are advised.
In 1969 the testing of babies at birth with the "Guthrie Heel prick" test was rolled out across the UK. Previously, a nappy test (urine test) was conducted on children from 1952-1969 in the UK as Følling originally had done in Norway in 1934. But it was not applied to newborns, was not very sensitive and was not done universally.
Untreated PKU can lead to long-term health problems, including severe learning difficulties and behavioural problems, but with new-born screening, prompt treatment and a diet for life this can now be prevented and those with PKU lead a perfectly normal life. About 1 in 10,000 babies born in the UK has PKU.
A new baby from the same parents will have a 1 in 4 chance of having PKU. It is not known if any of Tommy's siblings had PKU, there is potential that the child born in 1918, a sister born prematurely who lived for less than 3 days and his youngest sister Winifred may have. His sister Winifred spent the last few weeks of her life in the neighbouring Brockhall Hospital where she died in August 1941. You can read more about Winifred on this site.
Letters accessed from the Wellcome Collection - https://wellcomecollection.org