VASCERN Spotlights: Dr Leema Robert

What really interested me about the VASCERN network was that it was not just about the diagnosis but also the management of these patients.

 

To end Ehlers-Danlos Syndrome (EDS) awareness month on a high note, we have the pleasure to present this month’s member in the VASCERN Spotlight: Dr Leema Robert. Dr Robert is a cardiovascular geneticist from the UK and Chair of our Medium-Sized Arteries Working Group (MSA-WG), the group that focuses on vascular EDS. Read about what she believes to be VASCERN’s biggest achievement to date and her favourite activity that she participates in as a member of VASCERN.

1) What disease(s) do you specialize in (or what is your medical specialty) and what interested you in this field?

I’m a clinical geneticist, or more specifically, a cardiovascular geneticist, having developed more of an interest in cardiovascular genetics. I have been fascinated by rare disorders, such a vascular Ehlers-Danlos syndrome (vEDS), from very young age. Back in medical school, I was always more interested in reading about the very rare rather than the more common conditions. When I finished medicine, I decided that I would choose something that would involve rare disorders, and genetics was one area I wanted to pursue. So I looked at the training routes to specialise in genetics and I chose to do paediatrics before specializing in clinical genetics. In clinical genetics, I had a natural interest in cardiovascular genetics. Although there were not that many specialists at that point, I collaborated with international colleagues to develop an expertise in this field.

2) How did you become involved in VASCERN?

I became aware of a call being initiated for expert centres involved in rare diseases to join the ERNs.  As we serve a large population of patients in London with both heritable thoracic aortic diseases (HTAD) and vEDS, we decided to apply to VASCERN.  What really interested me about the network was that it was not just about the diagnosis but also the management of these patients. There was a great willingness of colleagues to work in a collaborative manner to improve care of patients with rare disorders such as vEDS and HTAD.

3) What is your greatest hope for VASCERN?

The ERN’s tag line, “Share Care Cure”, really struck a chord with me from the very beginning. In my opinion, part of developing a good service and being able to offer the best care to your patients involves collaborative work; by sharing your expertise and learning from that expertise, one is able to then provide better care for your patients. Translational medical research that is sometimes referred to as “bench-to-bedside” research, aims to expedite the discovery of new diagnostic tools and treatments to patients by using a multidisciplinary and collaborative approach. This is one of the key areas that VASCERN, or any ERN, could hope or aim to achieve.

 4) What challenges do you face as a healthcare professional in the rare disease field? 

I would say that the very fact that these are rare diseases is the biggest challenge. When we initially set up the Aortopathy Service in Guy’s and St Thomas’ serving patients with vEDS and HTAD, we had encountered several difficult management questions. This was because of the lack of published data on these rare disorders. We worked with international and national colleagues to achieve a consensus for these difficult decisions. So I think the fact that as these are rare disorders and therefore not much is known about them is the biggest challenge in this field. We are beginning to understand the genetics and the pathophysiology of these rare conditions in recent years. Translation of this knowledge into the management and treatment of a patient, which almost has to be individualized, is always my biggest challenge.

5) What have you accomplished in your medical career that you are most proud of?

 Setting up a truly multidisciplinary and mainstreamed service in cardiovascular genetics in my centre has been extremely rewarding. I am very proud to work with a team at Guy’s and St Thomas’ where they have been extremely welcoming in incorporating genetics into mainstream medicine and cardiology. I feel that this is one of my greatest accomplishments at this point in my career. We provide a comprehensive service for inherited cardiac conditions, which covers everything from cardiomyopathies to arrhythmias, and rare disorders such as vEDS and HTAD. As a clinical geneticist, I am more involved in the phenotyping, diagnosis and management of vEDS and HTAD. In order to mainstream genetics in cardiology, we have also developed a really strong specialist cardiac genetics nurse (CGN) team. We have incorporated genetics and cardiac training for our CGN team in our service and we have recognised that the combined expertise sets us apart in the service that we provide for our patients.

The ERN’s tag line, “Share Care Cure”, really struck a chord with me from the very beginning.

 

6) Are you currently involved in any research projects or clinical trials? If so can you please describe them briefly?

 As we are an inherited cardiac centre, we are involved in numerous research projects. One of the research projects we have been involved in recently is a clinical trial for the use of irbesartan in patients with Marfan syndrome, which was an UK trial. Another project that we are extensively involved in is improving imaging in patients with vEDS and HTAD. We have developed a specific magnetic resonance angiography (MRA) protocol, which helps to visualize the arteries clearly. We are currently in the process of considering clinicial trials for vEDS, possibly a trans-national trial, but this is still a work in progress.

7) What VASCERN activities do you participate in and which are your favourite?

I am the Chair of the MSA-WG, so I participate in monthly meetings involving the Healthcare Provider (HCP) representatives and ePAG co-Chair that are members of the MSA-WG. I also participate in the Heritable Thoracic Aortic Disease Working Group (HTAD-WG) monthly meetings, as I am a member of their group as well. Focusing on the MSA-WG, vEDS is a very rare disorder with increased morbidity and mortality (estimated prevalence of 1/50,000–1/200,000). If the diagnosis and management of complications is delayed, this can be a life-limiting condition. Therefore, it is essential to collaborate and combine the data we gather on our patients and this is a key part of the work in our working group.

So with that said, my favourite part would be patient discussions because we learn so much about how to manage our patients by discussing these complex and difficult cases. One of the questions we recently asked during one such case discussion was about the risk of pregnancy in women with this condition. Anecdotal reports of uterine rupture and arterial dissection have been described. We also have evidence of late diagnosis in women who have already been through several pregnancies. This variability necessitates prospective and retrospective data collection to make definite recommendations. We are making real progress in this regard.

8) What are the main achievements of VASCERN to date? What challenges does VASCERN still face?

I think the biggest achievement has been bringing experts together with their willingness to give up their time to work in this collaborative network – VASCERN. One of the biggest challenges that we face in this network is how to engage our stakeholders in healthcare systems to obtain funding and support for the work of the experts in the participating HCPs. I feel this is something that we really need to focus on. Another challenge that needs attention is integration and recognition of expert HCPs within our own national healthcare systems. This will help us engage with other centres providing a similar service within our countries and provide equity of service in the care of patients with rare disorders.

To learn more about the MSA-WG, including its members and the diseases it covers, click here