A quick up-date from the “marfan-group” in the European Reference Networks, the HTAD (Heritable Thoracic Aortic Diseases)
What is the HTAD?
The network consists of clinicians specialised in Marfan and closely related diseases. The clinicians and their respective clinic have been approved on both a national and EU-level by official bodies. The European Reference Networks is an EU-initiative to ensure that diagnosis, knowledge and research in rare disease can be on the same level as more common diseases.
What do they do?
The network has been active for about a year and although most of the clinicians are well-known to the marfan community and know of each other, the HTAD has created a more formal way of working. Apart from getting together as a group, sorting out the EU bureaucracy and reviewing cases the group has been working on two documents of great importance for us with the Marfan syndrome. One is called Patient pathways and is a Strategy for Diagnosis and Initial Management of patients and families with (suspected) Heritable Thoracic Aortic Disease (HTAD).
The other document is about what common procedures that might produce some complications or where extra attention should be needed, Do and don’t for Marfan syndrome. It is important to validate them now so that these good recommendations can be followed all over Europe.
In the Do and Don’t document it is stressed that you should be aware of that epidural anesthesia should be performed with caution considering dural leakage and in some case dose adjustment. This is stressed in this document and it is important for you to know as a patient. More from these documents will come later.
How are patients involved?
Sadly Patrice Touboulie from the French association, who was a driving force of HTAD is no longer with us. We feel very grateful for the work he did and hope to take care of his legacy.
As patient representatives, we are there to constantly reinforce the holistic perspective. In clinical trials for instance, it is also extremely important to collect data on what the patients think. We (Marfans) have a lot of problems outside of the aorta and eyes, and some are very tough at times and have implications on our quality of life. Patient representatives provide a link between the patient organisations and the clinicians, for the exchange of views and information.
What is interesting for us as patients now?
A dedicated IT platform and telemedicine tools is going to come into use. It means that a patient can be in his “home clinic” but the case is reviewed though a link and a safe connection by specialist. As patients we do not need to travel and we get access to specialists.
Work to be done:
Make the knowledge and recommendations of the HTAD a recognized source of information for local doctors. Finding more support in the national health care systems for the valuable work being done by the HTAD. We are grateful for the commitment and also for the many hours of voluntary work it has meant for most of the clinicians.
One more patient representative needed – please join!
If you would like to play a more active role as a patient representative within the HTAD, do not hesitate to contact me! There is a need for another patient representative to help out with informing the marfan organisations about the work of the HTAD and also help to spread information in our respective countries. Furthermore, the marfan organisations could inform on the issues they would like research to focus on.
Check out:
In our group you find specialists from many countries in Europe. Do go to the web site and find out names and from what centers!
https://vascern.eu/expertise/rare-diseases-wgs/aorta-wg/
And on youtube you can find our Chair Julie de Backer talking about Marfan syndrome.
There are other videos on other topics. We call them Pills of knowledge – short videos in different languages, easily accessible knowledge. We are hoping to do many more, and in different languages.
https://www.youtube.com/channel/UC1sI4_jnqiaLhjNhktiN7ZA
Lise Murphy, co-chair of the patient group (ePAG) of the HTAD
lisemurphy@gmail.com
