Time to go home….. It is so hard to leave each other.
The European Reference Networks (ERNs) set up by the European Commission allow a collaboration between all health professionals concerned by a specific disorder throughout Europe.
They also allow the discussion of more difficult cases, online, thanks to the Clinical Patient Management System (CPMS) plateform.
The aim of this event dedicated to research was to set up collaborative research among researchers interested in Cutis Laxa, worldwide. It was also to ask patients to work together with researchers to let them know what main topics they would be interested in.
Pr Callewaert presented the main challenges, strength and weaknesses Cutis Laxa represents. Then Dr Jens Detollenaere talked about how patients’ participation is organised as partnership in research in Belgium
After working in 2 groups (clinic and research, and patients) with those interested in taking part in the research collaboration, we reported our work in a general session.
We ended this working day on research collaboration with the decision to set up an International Research Consortium on Elastic Fibers including a Patient Advisory Board. What a Success !!!!
Pr Bert Callewaert, Dr Karolien Aelbrecht, Mrs Deborah Wille and the full team of the medical genetics department in Ghent University Hospital welcomed us to allow patients to consult one-to-one in Genetics, Cardiology and Ophthalmology. They also had blood tests as well as a biopsy.
All those tests aimed at evaluating the consequences of Cutis Laxa on the organs examined, confirm the diagnosis initially given, allow molecular diagnosis when needed, inform patients on the medical follow up their case deserves, but also include all those willing to join the research programme led by Pr Callewaert.
Several rooms had been mobilized, as much for the consultations as to offer a waiting and resting room for patients and for children, whether patients or not, and their siblings to have a place to play.
We want to deeply thank Pr Callewaert and his team for their attentiveness, their patience, their commitment and their great expertise in Cutis Laxa.
“Cheers and thank you to Bert’s team. They were adorable and educationalist, together with a great medical expertise. We felt we were in good hands.”
“Activities for children were great, games and colour books, toy cars in the hospital and during the symposium”
We also thank Ghent University Hospital for the catering.
Although the concept of patient participation still lacks of a clear definition, there is a well-supported consensus that it is the cornerstone of the bio-psycho-social perspective of our healthcare system and thus of a patient-centered approach in healthcare.
In this presentation, we will give an overview of what patient participation entails, what the importance is,
but also its challenges,
and how our multidisciplinary team implements the concept of patient participation in practice and research.
Our Cutis Laxa patients are usually referred to us during neonatal period or early infancy. Many are confused with progeria, a rarer but more famous syndrome, before admission.
Cutis Laxa needs a multidisciplinary approach, as soon as the diagnosis is made, the patient is referred to screening for possible accompanying organ disorders.
Since the molecular defects determines organ pathologies and prognosis, molecular diagnosis is made as soon as possible.
The « Patient Journey » is a personal testimony that reflects the natural history/needs of patients with a rare disease.
It represents the collective perspective on the burden of the disease and the needs of people with first-hand experience of living with a rare disease.
It is a baseline reference document for clinicians to develop a healthcare pathway and guidelines to address the identified needs.
Cutis Laxa is such an heterogeneous disease that we could not make only one « Patient Journey » but two to represent the specific needs of the patients with the different types of Cutis Laxa.