Your first baby is now six months old – and in all that six months, not only have you not had one unbroken night, but you have never got more than two hours sleep at a time as your baby never sleeps – just screams and screams and screams. And…. not only does he (or it could be she) scream and scream but they are obviously in pain as they are rigid, arched right back in their cots and get no better when you try to cuddle them.
‘Colic – it will go off,’ say friends and health visitors. ‘Maybe you are not giving him (her) enough affection and cuddling.’ say others. But how much can you to cuddle a baby that resists you and pushes you away.
And as if the lack of sleep and the screaming is not bad enough, your baby vomits frequently, alternates between diarrhoea and constipation, does not want to eat anything that you try to give him (her) – and has weeping eczema on his (her) face and arms.
You try to try to control the eczema with baths, emollients and lotions; your GP suggests a cow’s milk allergy so you try a hypoallergenic formula and then an elemental one, but it makes little difference. In desperation, you burst into tears and beg for a referral to a specialist – a specialist of any kind – and if you are lucky you may get passed to a paediatrician, and then to a paediatric gastroenterologist and then, if you are very lucky, to Great Ormond Street.
A horror film? No – just the everyday experiences of a parent of a child with eosinophlic gastric disease….
And how happy will you be if you do finally get to Great Ormond Street and get that diagnosis. Not necessarily because they will be able to make you child better (although you obviously hope that they will) but because at last someone has recognised what your child is suffering from and that it is a genuine disease – and that you are not hysterical, or mad or, potentially far worse, imagining or ‘inventing’ your child’s distress.
For this is not a common disease – we are talking just hundreds (although growing numbers of hundreds) of children in the UK and a few more hundreds in the US where there is another treatment centre in Cinncinati.
I know about it because back in 2005 we ran an article by Amanda Cordell about Samuel, her two year-old and their experiences – from which I have drawn the scenario above. Amanda and Sam did get to Great Ormond Street and although Sam is by no means cured, his condition is now far better managed and with great care and effort on Amanda and their father’s part both Sam and his sister Heather, who also suffers from the condition, can live a viable life. (You can read all about them here.)
Thanks to the contacts that Amanda made through ‘going public’, especially with the Lucas family who also had children with eisinophilic disease, she set up a support group, FABED (Families Affected by Eosinophlic disorders) and, last month, together with the doctors from Great Ormond Street and the Academy for Paediatric Gastroenterology, they ran their first ever study day for families and for other doctors with an interest in the disease.
Eosinophils are white blood cells – acid loving cells which are normally present in all our organs except the skin, the lungs and the oesophagus. They are created in our bone marrow, move into the blood stream where they only remain for a matter of hours and then migrate into our organs when they remain for about ten days. They appear to have a protective effect, especially as a defence against helminths and parasites and possibly bacteria, but virtually nothing is known about what other roles they may play or purposes that they may have.
In eosinophilic disease the body produces far too many eosinophils which can lodge in any part of the digestive tract from the oesophagus (where they cause inflammation and scarring) to the lower bowel, working their way through the mucosa (layers of skin) into the nerves and muscles where they can burst, releasing toxins that can trigger major allergic reactions. No one knows why, in a small group of children, their production of eosinophils should have gone into overdrive.
Although it is starting to become clear that some adults also suffer to some degree from this condition, the majority of sufferers are children, virtually always from atopic or allergic families, the connection with inhaled and food allergy/intolerance being very close. And their numbers are growing. At the moment the only treatments are a combination of elimination diets or, if they do not work, elemental diets and steroids to dampen the inflammation and control the allergic reactions. And although both of these help, they are very hard to implement and only partially successful.
Both the Great Ormond Street team, and their colleagues at the Cinncinati Centre for Eosinophilic Disorders are hugely committed to both research and the provision of clinical support to the families, but they are very, very far away from finding the answers they need – or even finding the questions that they need to ask – to come to grips with this condition. While they will no doubt pursue every possible route, I cannot help wondering whether this might not be another area in which helminthic therapy might have a part to play – especially since one of the few roles for eosinophils that appear to have been indentified is as a defence against helminths and parasites.
(For those who are not familiar with helminthic therapy, it is based on the theory that for millenia humans, having co-existed with animals in what the 21st century would deem to be less than hygienic conditions, carried a low level of parasitic infection, but that it had been kept under control by the human immune system. However, thanks to the hygeine preoccupations of 20th century medicine, parasites have been more or less totally wiped out from the digestive systems of most Western populations. As a result, the human immune system has become ‘deregulated’ – with no parasites to control on a daily basis, it is, effectively, under-occupied and is therefore ‘attacking’ as ‘invaders’ or toxins, either perfectly harmless foods [peanuts or gluten], inhaled allergens [pollen] or even parts of the body – the pancreas in diabetes, the myelin sheath in MS, the joints in rheumatoid arthritis. Re-infecting the body with a low level of parasites or helminths re-focuses the immune system on a genuine threat and it therefore ceases to attack harmless proteins or organs and the allergy or auto-immune condition resolves.)
If one of the major roles of eosinophils is to use their toxic contents to defend against and control helminths, then, if they have no parasites or helminths to control, is it reasonable to suppose that they are finding alternative targets, but, faut de mieux, these targets are the very organs that they are meant to defend? If so, might not re-introducing a low level of parasites/helminths reverse the situation?
I did put this question to Dr Neil Shah who heads up the team at Great Ormond Street managing EGIDs and he did not dismiss the idea but pointed out that, until they had absolute proof that the therapy was safe (trials at Nottingham University have suggested that it probably is) and effective, no doctor was going to touch it with a barge pole. Sadly, since there is no longer any government money available for independent research and since there is little money to made out of breeding helminths, no drug company is about to fund any research, and there seems to have been little progress since the Nottingham trials in 2008.
I am absolutely not suggesting that every parent with a child with EGIDS should immediately rush out to look for some hookworms with which to innoculate their child (all other considerations aside, there is a significant cost involved) but, given that the condition is so disabling and so horrendous for both the families and the children to manage, that there really does not yet seem to be, within the standard medical lexicon, any effective treatment, and that low dose parasitic infection appears to be entirely safe, maybe this is a route that should at least be considered by both therapists and families?