This article appears in the May 2011 Edition of the Catholic Medical Quarterly
The Lejeune Clinic for Down's Children
Dr. Anthony Cole
In 1995, Prof Emeritus Peter Grey, Dr Peter Doherty, Dr Margaret White, and myself met with Dr Marie Peeters from the Lejeune clinic in Paris at the hospital of St John and St Elizabeth in London at the suggestion of Prof Jerome Lejeune. It was decided to establish a clinic dedicated to Downs children as a charity supported by the hospital, the research fund of the Guild of Catholic Doctors and the Anna Fund for Downs children.
A dozen families were travelling from the UK to Paris to see Prof. Lejeune who had fallen ill. He asked us if we would see them in London, and initially it did not look as though it would be particularly onerous. We anticipated four clinics a year conducted by two paediatricians. The number of families seen has now grown to over 300, with two clinics a month supported by five consultants and two speech therapists and an occupational therapist.
Professor Lejeune was the first professor of fundamental genetics at the University of Paris. He intuited that the syndrome originally described by J Langdon Down in 1866 was a genetic disorder. Using an old microscope he discovered that there was an extra 21 chromosome and described trisomy 21 with his colleague Professor Turpin in 1959. He became immersed in trying to understand how the genetic imbalance effected the biochemistry, growth and development of these children.
He taught himself English in order to read research papers in the original and developed his own dramatic style saying once;
"Modern genetics can be summed up in an elementary creed as follows; in the beginning is a message. And the message is in life. A veritable paraphrase of the first sentence of a very old book that you know well, this creed is still the creed of even the most materialistic geneticist. Why? Because we know with certainty that all of the information that will define the individual, that will dictate not only his development but also his subsequent conduct, we know this with a certitude beyond all reasonable doubt, because if this information were not entirely encapsulated therein, it would never arrive, for no information enters into an egg after its fertilisation...."
His discovery exculpated parents and dispelled the pejorative notion that the syndrome was a judgement or somehow their fault. This alone opened the way to an acceptance of the children albeit with special needs. The children themselves were their own best advocates being sociable, music loving, happy by temperament and often capable of astonishing athleticism producing many wonderful swimmers who grace the special Olympics. They are innately spiritual and love liturgy and some are surprisingly able on the stage.
I can recall in my childhood in Teignmouth seeing a long crocodile of Down's children coming down to the beach. Their clothes looked as though they had been boiled up together and probably had been. Some talked but others communicated in gestures and after a while they returned to their sub normality hospital which had a "colony for Mongols". At that time there was a 50% chance that they would suffer from a major cardiac defect, a 40% chance of hypothyroidism, a 70% chance of intermittent or permanent deafness, and a 27% chance of poor eyesight. Most would not survive childhood and were confined to sub normality hospitals, usually on medical advice.
Historically and still in the developing world, the sequence of events was similar. On diagnosis, they were kept at home and at some point most would find their way into an institution and would be cut off from family life. Their life expectance was limited with most dying in childhood. It is astonishing to think that in my lifetime they have gone from this to being an accepted members of the family with 80% attending ordinary primary schools and a life expectancy into their mid fifties, many adults living semi independent lives with some in employment and even a few marrying.
None of this is due to radical treatment other than cardiac surgery, ENT procedures, lenses, thyroid replacement therapy and speech and language therapy. They are still at risk from leukaemia and long term dementia and generally have moderate learning difficulties. Letting them enjoy normal family life has ended their social isolation and institutionalisation has ceased in this country. Most of these advances were parent driven, but there is a new generations of community paediatricians and scientists, of whom Lejeune himself was a most notable pioneer, who have made enormous contributions to their progress.
Dr Pat Henshall and Dr Faiq Tukmachi applied the Ruth Griffiths developmental assessment to the developmental screening in the clinic and the parents found this information very helpful. Mrs Ann Bennett was the original speech therapist and Dr Gerry McEnery and later Dr Marion McGowan and Dr Jill Ellis and Dr John Loftus joined the paediatric team. All were consultants and members of the Downs Syndrome Medical Interest Group, the national peer group which produces the leading protocols and guidelines. Another feature of the clinic has been the collecting of biochemical data in addition to thyroid function tests. This was to reveal a surprising number of cases of iron deficiency amongst the children an important finding as iron deficiency effects both memory and learning.
Each child is seen by a multidiscipline team. This includes a medical examination, thyroid function tests and a general biochemical screen. This is followed by a Ruth Griffiths assessment of development and targeted speech and language assessment with additional advice from a paediatric occupation therapist. The therapists are from Great Ormond Street Children's Hospital. In all, each family gets a three hour clinic appointment which gives the parents enough time to discus their concerns. Many of the issues relate to statements of special educational needs and the parents may use the reports generated if they wish. The clinic does not advertise and is still almost entirely charitably funded and the parents self refer. It is known by word of mouth.
Our reports go to the medical team looking after the child and are welcomed. As a rule any new findings are followed up locally and our experience has been shared nationally and internationally with lectures in Holland, France, India, South Africa and Australia and the United States. Dr Pat Henshall gave a paper to the World Congress in Seattle which was also published in Archives of Paediatrics.
An approach was made by Dr Doherty and myself to the Welcome Trust after the 21 chromosome had been sequenced in Berlin, and on their advice we called a meeting in London to which were invited some of the world's leading researchers on Downs syndrome. This fascinating meeting highlighted the work then being done in Philadelphia using 21 trysomic mice. These occur naturally and had been bred as animal models for fundamental studies on neurotransmission and dendritic development. A report was sent to the Welcome Trust suggesting that support be given to this line of research. In due course a strain of 21 trysomic mice were produced with one extra human 21 chromosome.
Professor Lejeune had thought that folic acid might be beneficial. For a while we used this in the clinic in accordance with his protocol but were not convinced that it was helpful. We were never in the position to conduct fundamental research ourselves but supported the 200 baby trial based on the team at Great Ormond Street Children's hospital. They conducted research with folinic acid, vitamin C and placebo using double blind cross over trials, but could not demonstrate a beneficial effect. Dr Jill Ellis was closely involved with this research. Meanwhile in Paris the Lejeune Clinic did their own study using much bigger doses but with no proven benefit.
On the other hand, it now looks as though Downs children may be the ideal index group for research into Alzheimer's disease as they are all suffer dementia towards the end of their lives. It now appears that in Downs it is associated with amyloid plaques and that amyloid is controlled by genes on the 21 chromosome. Lejeunes' faith that the condition may be treatable could prove to be prophetic and advances with these children could actually be of value to others.
Three years ago the life and work of Professor Lejeune was recognised by the Church and he received posthumously the Mother Teresa of Calcutta Medal for Life at a ceremony attended by Madame Lejeune in the chamber of the Council of Europe where reports from the clinics that he inspired were given including our own. The cause for his canonisation has been opened by the Archbishop of Paris. The Guild of Catholic Doctors can take pride in its involvement with helping these children who have been described as "the gentle prophets of our time".
Dr Tony Cole
The Lejeune Clinic for Downs children.