Professor Kristiana Gordon

So primary lymphoedema is the type of lymphoedema where somebody hasn't, their lymph system hasn't developed properly.

And we believe that in the majority of cases there will be an underlying genetic mistake that's caused this.

There's over 100 different types of primary lymphoedema.

We've discovered the genetic cause for a handful of them.

Of the patients that we see in our clinic and we do genetic testing on them, we only discover one.

the gene mistake in about 15.15% of patients that we see.

And those are patients that we've carefully selected.

So for the vast majority of people living with primary lymphedema, we haven't found the gene yet.

But it's so much easier now to do the genetic test.

We just say, pop around the corner, have a blood test, and off it goes.

And within three or four months, we've got an answer.

When I started out doing the research, we had to analyse each gene individually and that could take two years to get an answer.

Did that person have a mistake in that one gene or not?

And when it was negative, you were like, oh no, I've got to start somewhere else now.

Depends on the type of primary lymphedema.

So primary lymphedema is an umbrella term for at least 100 different diseases.

Just to talk about one type of primary lymphedema in particular, there's a condition called lymphedema dystichiasis syndrome, which I must confess is my favourite condition to diagnose.

I still remember the first person I saw with this in clinic.

It was a real eureka moment.

I still see him every couple of years.