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Stephanie's Story
Since I was a little girl I had
always wanted to be a doctor. Imagine my frustration when, once
qualified, I just could not work out what was wrong with me.
All
my life I suffered regularly from attacks of sickness and severe 'migraine'.
These attacks came out of the blue and were made worse by muscle
and joint pains, unexpected loss of concentration, and severe constipation
that could
last for days on end. In fact I nearly failed to get into medical
school because of it, as I had bad attack during my A levels.
I
couldn't understand why. It just wasn't in the textbooks. Nothing
I learnt at medical school explained these awful attacks. Until one
day, after a
particularly bad episode, my husband Tony and I solved it. It was
a ‘'eureka
moment' that gave me back my life and my family.
We
discovered that all my symptoms were caused by my taking in too much lactose, the sugar
in milk. We now believe that I am also sensitive to large amounts of other
carbohydrates as well.
Lactose and Lactase
Lactose is only found naturally
in milk. It is a sugar, so its name ends in –ose. Lactose
is broken down into two simple sugars, galactose and glucose, by
lactase. This is an enzyme, so its name ends in –ase. In
fact, it is a unique enzyme found only in the small intestine.
Lactase starts to appear in large amounts just before
birth, reaching a peak 2-3 days later, ready to receive the sugar
from mother's
milk.
But
what is not well known is that we humans, and all other mammals in
fact, lose much of their lactase after they come off the mother's
breast. This loss is
greatest in Chinese and Japanese. Most adult Asians also have lost
over 75% of their lactase. Only white northern Europeans, the Bedouins
and a few African
dairying tribes, keep their lactase after weaning.
This means that some two-thirds
of the world’s population, a staggering 4,000 million people, cannot digest
lactose properly!
A Question of Degree
Everyone can take some lactose
- in a little cheese for example. But many people have a low threshold
to lactose. If they unknowingly ingest too much, then they get a
range of gut
problems and other 'systemic' symptoms, with disastrous
effects on their quality of life. The
so-called ‘'systemic' symptoms include headache, chronic
fatigue, loss of concentration, muscle and joint pain, a range of
allergies such as asthma, hay
fever, eczema and sinusitis, and heart palpitations. If this sounds
like you, please see a doctor and try stopping lactose for a couple
of weeks. The result
could be quite dramatic!
Tony's Input
So how does having a low level
of lactase lead to such a wide range of symptoms?
Genetic Background
We still don't know exactly how
the lactase is lost. The DNA that is the template gene for lactase
is found in chromosome 2. But there are no consistent differences
between white northern
Europeans and other human groups that can explain loss of lactase
after weaning.
However
two differences have been found in a gene called MCM6, just a little way up
stream from lactase. We have used this difference, or polymorphism as
it is known scientifically, to develop a DNA test. If you are what we call
CC/GG then you are almost certainly lactose intolerant.
But
remember, we are not dealing with a food allergy, which is caused by an immune
reaction to a protein, such as gluten, in food. But let’s hit one icon on the
head. Even though we still tend to use the term, there is no such thing as
lactose intolerance!
That Matter of Degree
Complete loss of lactase
congenitally is very, very rare. We have never seen a case. Almost everyone has
some lactase. Some people, like Stephanie, have just a little. Others, like me,
have a lot. And this is where it is a nightmare for the modern medical ‘box
tickers!
Everyone
has a different threshold for lactose. For some, just half a glass of milk will
make them ill, while others can ingest a litre of milk with no ill effects. You
can also lose lactase if you have a viral or protozoal infection, such as
Giardia, in the small intestine. This will also lower your threshold to
lactose. We also believe that hormonal disturbances and ageing can affect the
amount of lactase you have.
So what happens if you don't
have enough lactase?
If
you don't break down lactose, or any carbohydrate in fact, in the
small intestine it ends up in the large intestine where there are
millions of greedy
bacteria ready to digest lactose and other sugars for you. You will
cross the lactose rubicon and feel ill.

In
our guts we all have about 100 times as many bacterial cells as cells in the
rest of our body. And there are over 400 different bacterial species there.
There is very little oxygen in the lower gut. So, unfortunately, when the
bacteria here try to digest lactose, they end up releasing gases and a range of
small organic molecules.
The
two main gases are hydrogen and methane, causing the gut to expand, with
inevitable pain. Measurement of these in the breath is useful in diagnosing if you have a low lactose
threshold.
The
small organic molecules can be absorbed into the blood where they get
transported to the brain, muscles, joints and so on where they have their toxic
effects. It is the absorbed toxins we believe cause the huge range of symptoms.
We are on a hunt now to identify these toxins, and see how they work.
Through
my work as a medical biochemist working on light-producing animals I have
developed a revolutionary new technology using DNA from jelly fish and glow-worms. It
is helping us show how the toxins work by lighting up chemical reactions in
living cells.
First Food Intolerance Clinic
in Wales
A few months after Stephanie's
‘eureka moment, we had a friend around for lunch. During
the meal we told her our story. Her mouth dropped open in amazement. ‘'But
that's what's happening to
me' she exclaimed.
Then,
our story started to get around the hospital where Stephanie works. (She has a
special interest in cholesterol, and runs a clinic that helps people and their
families who have high levels, and thus are at risk of having a heart attack.)
Colleagues,
and local GPs, started to refer cases they had that were similar to
Stephanie’s. She began to be overwhelmed, and now has over 700 patients on her
list whose lives, like hers, have been transformed by coming off lactose.
Misdiagnoses
There have been some amazing
stories – people who have been ill for 10 years or more; a patient
misdiagnosed with rheumatoid arthritis and awaiting a knee replacement, and
patients previously taking various
drugs. All are now cured, and off all medication. What a marvellous relief for
them - and a saving for the NHS!

The Fallout
But it has not stopped there.
Lactose-free cooking
I also love cooking. I call it
biochemistry in the kitchen. So I converted all our favourite the recipes into
lactose free ones.
To
do this I had to look very carefully at the food labels, as I discovered that over the last 40 years a huge lactose industry has built up,
adding milk products and lactose to foods and drinks without being properly
labelled. In the US alone the current production of lactose is about 300
million kilograms a year.
So
what could we advise our patients to eat? They were desperate to enjoy their
meals again. The answer was to write a recipe book especially for them.
The
book, Tony's Lactose-Free Cookbook, contains over 100 mouth-watering
recipes, but also explains exactly what lactose intolerance is and
how you can have food and drink without lactose. It
also explains my own eureka moment.
Charles Darwin...
As I learnt more about lactose
I realised that the symptoms we had uncovered explained, for the first time,
the illness that afflicted Charles Darwin for over 40 years. It almost
prevented his voyage on the Beagle.
Darwin
missed something else - the crucial importance of lactose in the evolution of mammals and our own species.
The key rubicon question is: 200 million years ago, what came first, lactose or
lactase? The answer I believe will revolutionise our understanding of the true
origin of our own species.
Tony's Lactose Free Cookbook
costs £14.99 from the Windsor Bookshop
029 2070 6455 www.windsorbookshop.co.uk
Further reading
1. Campbell AK (2003). What
Darwin missed. Astrophysics and Space Science 285:1-5
2. Campbell, AK and Matthews,
SB (2000). Lactose intolerance and neuromuscular symptoms. Lancet 356:510-511.
3. Campbell, AK and Matthews,
SB (2001). Lactose intolerance and the MATHS syndrome; what are they and how
can I cope? p 32. Welston Press, Pembrokeshire. ISSN 1474-6794,
ISBN
0-9540866-0-0).
4. Campbell, AK and
Matthews, SB (2005). Darwin’s illness revealed. Post. Grad.
Med. J. 81,151-246.
5.
Campbell, AK and Matthews, SB (2005). Tony’s Lactose Free Cookbook – the science of lactose intolerance
and how to live without lactose’ (ISBN 0-9540866-1-9).
6. Campbell, AK, Matthews, SB
and Wann, KT (2004). Lactose causes heart arrhythmia in the water
flea Daphnia pulex. Comp. Biochem. Physiol. B 139;225-234.
7. Matthews SB and Campbell, AK
(2000). When sugar is not so sweet. Lancet 355:1330.
8. Matthews SB, Waud J, Roberts
A and Campbell AK (2005). Systemic lactose intolerance: a new perspective on an
old problem. Postgraduate Medical Journal 81:167-173.
9. Matthews SB, Waud J, Roberts
A and Campbell AK (2005). Systemic lactose intolerance: a new perspective on an
old problem. Post Grad Medical Journal 81:167-183.
10. Matthews, SB and Campbell,
AK (2000). When sugar is not so sweet. Lancet 355:1330
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