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Sharing stories: Heleni

In this video, we meet Heleni who has two autosomal dominant inheritance conditions: one inherited from each her parents.
Hi. My name’s Heleni. I’m 35 years old. I have two conditions that I’ve had for a reasonable amount of time. The first one I was diagnosed with at a very young age and the second one into my teens. One is a bone condition, and one is a vascular condition. Day to day, I’m a solicitor, I’m married, and I have a young child. My mum has multiple epiphyseal dysplasia. And when I was young, I was tested for the same condition, on the basis that they thought, mother to daughter, it’s possible it might transfer. And I was examined, and they came to the conclusion, at that time– in 1980, 1981– that I didn’t have it.
And it was all quite nice, going forward. And then, about the age of 16, I started getting pain in my quads and my upper legs, primarily. And I went to see an orthopaedic surgeon. And he said he thought there was a possibility that it might be the same condition that my mum has. So I had bone scans and MRI scans. And they came to the conclusion then that, yes, I did actually have multiple epiphyseal dysplasia. From her, they thought, but at that time there wasn’t the same sort of genetic exploratory work that we’ve got the results of now. I have a vascular condition, as well.
And I am under the care of a professor in Southampton who’s very good friends with a geneticist, also in Southampton. And he was quite keen for me to be involved in some multicenter trials that she was doing. So as part of the genetic workup for those trials, they wanted to identify where the vascular condition had come from, and also where the bone condition had come from, and be sure about the mutations on those. So I did testing with my mum and my dad. And they established then the clear evidence that it was a common gene mutation from my mum that had caused the multiple epiphyseal dysplasia, and the vascular conditions were definitely coming from my dad.
Both are autosomal dominant conditions. My understanding is that “autosomal” means they’re not sex-linked genes. And “dominance” being that only one allele is necessary to carry the condition. So I’ve obviously got one from my dad and one from my mum. My own passing-on ability is a 50-50 in each child. And my daughter was tested with cord blood sampling. And we’ve established that she’s got neither condition, which is rather a relief. But yeah, there was a 50-50 risk in each condition. So obviously, for her, she could have had both, like I’ve got, or one of each condition, or neither. And she’s got neither.
I’ve had the benefit of being able to say that I wanted to stay under one consultant for the majority of my care. And Professor Shearman, who looks after me in Southampton, I’ve been with now since I think I was about 12 or 13. And he realistically has been fundamental in my care, because of his connections and because of the way he’s chosen to deal with my– um– “situation,” I guess. So he’s looked into various other aspects that could have an impact. So, for example, I had some trouble with my eyes years ago. And he said, right, well, this could be a presentation of the GVM. Let’s get it looked at.
We’re not going to start messing around and checking out all sorts of other back routes first. We’ll just go straight for this and check it. He was the one that was very keen for me to contact Karen Temple and be involved in the things that she was dealing with at that time. And I think if you have the confidence that at least one person at NHS understands you, respects you, and supports you, the rest is doable. And I think coming from a scientific background, and also from a professional point of view, I perhaps have a slightly different understanding to the average man on the street.
But I think it’s key for medical staff, whatever stage they’re at, to appreciate that the patient lives with the condition day to day. And the patient can have, and potentially does have, a lot of valuable information, but they need to feel supported. And I think if everybody works together, and departments work together, and different specialties can come together and say, look, this is one patient, but we can give her holistic care, the whole thing works.

In this video, we hear the story of Heleni, who has been diagnosed with two autosomal dominant conditions: multiple epiphyseal dysplasia (MED) inherited from her mother and a genetic condition characterised by vascular malformation, inherited from her father.

This is an open-access course and the families and patients who have kindly contributed to this course will also have access to your comments.

Talking point

What are your personal or professional views and experiences on “holistic” healthcare?

Is this something we should all be aspiring to or is it better that we are treated by a doctor who knows a great deal about a narrow aspect of medicine; a “super-specialist”? Or, are the two not mutually exclusive?

Many thanks to Heleni for taking part in our course.

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