Plaque unveiling at Birmingham Children’s Hospital to honour pioneering patient and team that helped change lives
An official unveiling of a plaque dedicated to Sheila Jones, the first patient in the world to be treated for Phenylketonuria (PKU) using changes in diet, was held at Birmingham Children’s Hospital on Saturday (21 October).
The study was officially published in the academic journal The Lancet 70 years ago and was the catalyst towards many ‘firsts’ pioneered in the treatment of the condition by the specialist paediatric hospital.
PKU is a rare inherited disorder and is due to an enzyme deficiency which results in an inability to break down an amino acid, phenylalanine (a building block of protein). Without treatment, PKU causes severe intellectual disability.
The ceremony will honour Sheila and the team who treated her in the 1950s - Dr Horst Bickel, Dr John Gerrard and Dr Evelyn Hickmans – who won the prestigious international John Scott Medal in 1962.
Young people currently being treated and their families will also be in attendance to mark the occasion.
Prof. Anita MacDonald OBE, Consultant Dietitian in Inherited Metabolic Disorders at Birmingham Children's Hospital, said: “We’re excited to honour Sheila and the team that worked so tirelessly to help her, who discovered how to help not only Sheila but other patients who have PKU using changes to their diet.
“Sheila and her mother, Mary, made immense contributions. Thousands of children with PKU and other rare diseases are now diagnosed early and can enjoy normal healthy lives.
“As a hospital, we have a strong track record of conducting much research in PKU and having a huge impact in the treatment of this disorder across the world – something of which I’m incredibly proud.
Prof. Anne Green, formerly of Birmingham Children’s Hospital, who wrote a book about Sheila, said: “The team that worked on this study are one of the few medical professionals in history to have won the John Scott Medal.
“We’re pleased that with Sheila’s and our doctors’ family in attendance, this medal was returned to our hospital to be put on display alongside our plaque, making sure that Sheila, Mary and the Children’s Hospital’s legacy will be recognised for years to come.”
Sheila’s brother, Trevor Jones, who officially unveiled the plaque said: “I’m overwhelmed. I can’t believe how big it feels. I don’t think I knew how big a contribution Sheila and my mum made around the world, I’m so in awe of them. I can’t believe it was my Mum who was banging on the doctor's doors, she never came across like that, I don’t know how she had the time or the bus fare to do it.”
Sheila was born in Birmingham in 1949 and was diagnosed with PKU in 1951. At that time, there was no treatment, but Mary waited outside the hospital laboratory daily and persisted in demanding help for her daughter.
Three doctors at Birmingham Children’s Hospital, Dr Horst Bickel (a doctor from Germany studying in the UK), Dr John Gerrard (Paediatrician), and Dr Evelyn Hickmans (Head of Biochemistry) took up the challenge and worked tirelessly to prepare a special diet. This was the first ever low phenylalanine protein substitute (protein replacement) for PKU.
Sheila could have no natural protein such as eggs, fish or meat but instead had to drink an unpleasant liquid as a protein substitute. This first dietary treatment was made up in a large laboratory glass bottle, which Mary had to collect every week and carry home on the bus.
Within a few months of starting treatment, Sheila began to take more interest in her surroundings and played more. She was brighter and began to make eye contact and could sit and begin to stand. Sheila eventually walked unaided and made further progress in her development.
The discovery that a low phenylalanine diet helped Sheila, led to national newborn screening for the condition via the heel prick test, and the commercial production of formulae for PKU treatment across the world.
There is now new medication in development which could mean that PKU patients may be able to have a regular diet.
Current PKU patient, Rachel Small, said: “I’ve responded really well to a new drug called Saproptevin (BH4) which is helping me to eat protein in meat and eggs. For most of my life, I have been on a really strict diet, and originally there was very little by way of low-protein foods. It would involve a lot of planning meals and balancing my allowance across the day.
“I’m grateful for those who campaigned for this, I’m relearning how to eat again after 46 years.”
This also led to several firsts for the Children’s Hospital in the study of PKU. This includes:
- In 2003-2004, BCH was one of the first UK hospitals to trial the drug sapropterin in a group of people with PKU. This drug is used in combination with dietary management. It enables patients to eat more protein and eases the burden of the diet.
- BCH is the first hospital in the UK (and beyond) to trial many new dietary treatment strategies in PKU to improve the quality of dietary management.
- One of our local families developed their own business (Fate Special Foods) as a consequence of having two girls having PKU. This company supplies low-protein products worldwide.
- The Chemistry laboratory at the Children’s Hospital, where the work was undertaken to prepare Sheila’s diet, was founded by Evelyn Hickmans in 1923 – the first Chemistry Laboratory of its kind. It has just celebrated its centenary and now screens babies across the West Midlands for PKU and nine other disorders.
- The City of Birmingham pioneered newborn screening in 1959 – the first place in England.
The ESPKU (European Society for PKU) requested and financially supported the Sheila Jones plaque. It has an annual Sheila’s Jones award, which goes to a PKU advocate who has done much to support others with the condition.