My name is Fraser Burling.
I'm a dual-trained physician and rheumatologist,
and I work at the Rheumatology and Musculo-skeletal Clinic in Auckland.
We had two patients come to the clinic with Ehlers-Danlos syndrome,
one of which was Tracey.
And treating them
for their soft tissue injuries with prolotherapy,
which is a process of strengthening damaged ligaments,
resulted in significant improvements in those two.
This ribbon represents the zebra,
which is the mascot for Ehlers-Danlos syndrome.
The first reason is if you hear galloping hooves,
don't automatically think 'horses'.
The second reason is the clinical expression
for Ehlers-Danlos syndrome is as varied as the stripes of a zebra,
and no two zebras have the same stripes.
Ehlers-Danlos syndrome is a collection
of conditions of abnormal collagen synthesis,
whether it be the collagen molecules themselves
or the molecules that help put collagen together.
We currently have 30 known genes for Ehlers-Danlos syndrome.
So Ehlers-Danlos syndrome, being about collagen synthesis —
collagen holds everything together in your body,
not just joints and bones,
but it also holds together the soft tissues,
such as your muscles,
your blood vessels,
your internal organs.
And, in fact, pretty much everything in the body
is held together by collagen.
So when you have abnormalities within Ehlers-Danlos syndrome,
it's not just the musculoskeletal abnormalities,
such as being able to put your thumb through to the wrist
or being able to bring this little finger back to the midway
or stretching the arm back past 180 degrees,
which is where you see with part of the Beighton's score.
But it is also about the skin pulling back further,
and in many people with the classical types,
it is about people dropping their blood pressure on standing,
because the vessels in their legs
can't push the blood back up properly.
It's about trouble with swallowing food for some people,
with digesting food for some people,
with pushing the food out through the back passage
so that people can be constipated for up to six weeks at a time
without a bowel motion.
It really affects multiple different aspects of the body.
We then look at multiple other issues that are involved,
so I actually have a whole checklist page that I go through.
So asking things like,
'Were you able to do party tricks when you were younger?'
So these include
the ability to do the prayer hands behind your back,
the... Some people could put their foot over their head.
Many people could do the splits
without having to work towards doing that.
People would often show off to their classmates in school
about bending their fingers back or bending part of the finger.
So they'd be able to do, sort of, that motion with their finger
without any effort at all.
Then there were those who would actually pull on their skin
and pull it out.
Then their history, such as whether they bruise easily or not,
whether they feel faint or dizzy on standing.
Some subtypes have a Marfanoid habitus,
which means that they have extra-long fingers, extra-long toes,
extra-long limbs compared to their height.
When you're looking at the classical phenotypes
of Ehlers-Danlos syndrome, it was, a long time ago,
thought to be one in 75,000, then one in 150,000.
Then it was brought down to one in 10,000.
More recent literature has put it in one in 5000,
and very modern literature is putting it more like one in 2500.
And it may end up being closer to one in a thousand.
We don't know yet.
I think it's been more an issue of it being underdiagnosed,
rather than not existent.
The fact that we have multiple issues that are now recognised
and multiple treatment options that are also recognised
and are able to be applied to patients
so that they no longer have to live in chronic pain,
and many of them can be made pain-free.
So, for example, I had one patient
who took 10 minutes just to get out of a car
and then two years later was able to climb a mountain — overseas.
And she was able to do that
because of the fact that we'd got her through the pathway
with a multidisciplinary team approach
and got her back to living a normal life again.
Now, this isn't a one-off.
Many of our patients come to us on the verge of suicide,
because their life has been destroyed by injuries.
Now, let me make it clear here.
Ehlers-Danlos syndrome does not cause injury.
Accidents cause injury.
But people with Ehlers-Danlos syndrome are more easily injured
when they have an accident and they're harder to heal.
And so by the process of a multidisciplinary team approach,
working together,
we've got many people back to living a normal life again,
or as near normal as we can get them,
but significantly improved from where they used to be.
We're getting a lot more treatment available for patients
that I can certainly— that I could provide.
And as we get cardiologists
and gastroenterologists
and other rheumatologists recognising
and being able to treat the condition,
it really makes a difference
to, first, people being recognised as having the condition
and getting a diagnosis
and, secondly, people getting appropriate treatment
that can be life-saving.
The way forward for New Zealand for Ehlers-Danlos syndrome
is more recognition nationally.
The Ministry of Health
in combination with the Rare Diseases Organisation
set up a committee, of which I was a member,
to write a pathway for Ehlers-Danlos syndrome
for both recognition and simple treatment options.
This pathway is now present in one DHB,
and we'd really like to see it in all DHBs.
We'd like more recognition amongst colleagues of the various issues
that are associated with Ehlers-Danlos syndrome.
In Ehlers-Danlos syndrome, psychological issues are common.
However, they are commonly secondary rather than primary.
So if someone is living in chronic pain, it is a major depressant.
It can also cause significant anxiety,
especially if it affects the person's ability to earn an income.
We do have a lot of help from psychologists and psychiatrists
in this field, especially when someone first comes to us
and they're in a suicidal state.
And while we're dealing with many of their medical issues,
we need the psychological help to deal with those psychological issues
at the same time.
The key is that once you deal with the medical issues,
the psychological issues lift
and lift dramatically.
And so people who have been suicidal when they first come to the clinic,
as we sort through their issues,
they find that life is worth living again,
especially if they're not living in chronic pain any more
of if they're able to eat again —
food that they weren't able to eat before.
So the process of building a person back up from a state of injury
can take much longer to achieve
than someone without Ehlers-Danlos syndrome, for example.
And this can be not just because of the soft tissue injuries
or the...
ligament damage or dislocating joints,
but can also be because of other factors in their life
that are affected and other organs' systems that are affected.
We do use the strong agents, which are tetradecyl sulfate
and polidocanol, which have been used in varicose veins for decades,
and they've been used in soft tissue injuries
for about 20 years internationally.
These agents are much stronger than dextrose, we found,
and so we gave up on dextrose at our clinic many, many years ago.
However, they help the body lay down soft tissue,
build up the tissue and actually stop people dislocating joints,
and we even published on that in January of this year
in the British Medical Journal Group,
and that's an open-source paper as well, if people wish to look it up.
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