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Three, two, one, action, you're supposed
to say, aren't you?
Action.
I'm Paul Wilkinson, and I'm 68.
I was born with AKU, and I was diagnosed at 16, and I was
referred to a London hospital.
I'll tell you how I describe it.
AKU is a genetic metabolic disease.
The body can't deal with protein.
It turns the protein into homogenic acid, and the acid
eats the cartilage away.
I understand it's linked to chromosome 3.
Patients with alkaptonuria, or AKU, have trouble breaking
down protein, and this leads to the harmful buildup of a
compound called homogentisic acid.
It is a recessive genetic disease associated with a
defective gene on chromosome 3.
So in order to get AKU, patients must inherit two
copies of this faulty gene, one from their mum and one
from their dad.
This makes it a very rare disease
So they're born with the condition.
So therefore, all you can see initially is just dark urine.
By around the age of 25 to 30, they start to get back pain.
They start to get discoloration of the ears.
And progressively, over time, the knees and the hips, all
the joints of the body start to become
involved in this process.
I'm Professor Ranganath.
I'm a consultant at the Royal Liverpool University Hospital.
And I'm the clinical director of the National Alkaptonuria
Centre in Liverpool.
Funded by the Department of Health, the National
Alkaptonuria Centre opened in June 2012, and for the first
time brings together a team of specialists to help treat and
monitor AKU patients.
So we quickly realised that people with alkaptonuria have
problems walking.
Mobility is impaired significantly in patients.
And that is a hugely important issue for quality of life.
In my 30s, my back of my neck was the first thing that began
to get very stiff, very painful.
And then, within a very short while after that, one of my
hips virtually went in a matter of months, just
crumbled away.
The cartilage gets brittle, and it breaks up, and over
time leads to pretty much the damage of the whole joint.
And the ultimate treatment that's all the rage is joint
replacement.
The National Alkaptonuria Centre are now collaborating
with the Liverpool John Moores University to analyse gait
impairments in AKU patients.
Because the joints undergo this kind of degradation, the
inevitable effect of that is that the way the person moves
will be affected.
So what we've been doing here today is called "clinical gait
analysis." It's basically the scientific method of measuring
how we walk.
I've been walking up and down with these markers on my legs
so that, I think, they can analyse my walking method,
what's good, what's bad.
We analyse it scientifically.
We can then pinpoint which joints are damaged and what
mechanism might be affecting mobility in these patients.
From his gait, we can see if he's making any compensations.
Obviously pain is one of the biggest predictor if you
change a gait.
So if something looks abnormal, and in that area he
says he has pain, we can kind of connect the dots.
We can give some advice to the patient on how, perhaps, to
avoid some compensations and prefer another type of
compensation that puts less stress on their joints.
Paul was walking quite slowly.
That was the first obvious thing that we noticed.
And having been through so many operations, I'm sure that
he has had a fair share of trouble and
difficulties walking.
I'm having some real mobility issues in my left foot, and
I'm under a bit of pressure to have some more surgery.
It's quite difficult at the moment.
The National Alkaptonuria Centre is currently trialling
a new treatment called nitisinone that helps prevent
the buildup of homogentisic acid and, therefore, eliminate
the harmful effects of this rare disease.
Since 2006, 2007, which is really quite short period of
time-- six or seven years--
we have made enormous strides, and we're now on the brink of
a treatment for alkaptonuria.
Oh the black pee. i haven't got the black pee now.
I feel bereft that I haven't got black pee.
So I have known Paul for nearly six years.
And he commenced the nitisinone last year when he
came to the centre in October, and he has been on that for
one year so far.
But he's doing really well.
A matter of weeks, if not months, the
black pee had gone.
For the first time in 60-plus years, I peed normal colored
male urine.
What was that like?
It's just amazing, really, isn't it?
For more information about alkaptonuria, visit the AKU
society website, www.akusociety.org.
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