16th -17th Septembre 2024 the event “Exp’Ose Ta Peau” (dare to show your skin) was organised in Roubaix by LéoPharma Laboratory. Located in front of the town hall, we were able to raise awareness on skin disorders with passers-by.
Then, in December, during the Dermatology Days of Paris, « Exp’Ose Ta Peau » had, again, a privileged place.
Cutis Laxa update
During the World Congress in Paris in June 2024, an update of the knowledge on Cutis Laxa was presented.
Pathophysiology of CL is represented as a defect of the elastic fibers. In the inherited forms, it is a defect of synthesis/assembly of elastic fibers, due to genetic mutations. When looking at the acquired form of Cutis Laxa, the process is different as it is instead a destruction of elastic fibers that were , at first, normal.
As of today, 18 sub-types have been identified in the inherited forms, together with related disorders such as Arterial Tortuosity Syndrome or MACS Syndrome. These identifications allow a new classification.
The forms with prominent connective tissue features (Tortuosity, Skin, Bones, Emphysema) and those with main neurological features with or witout intra-uterin growth retardation are still there. The validation of this new classification is still ongoing. It will be a better tool for diagnosis, integrating clinical data, ultrastructural findings and pathophysiology. It will be the basis for novel guidelines..
Daniella, Lucie, Sara, Jamila, Shelley, MDMBen, Mirxan, Maya and Andres have joined us.
We are now in contact with 551 patients and families.
Their isolation and loneliness facing Cutis Laxa has disappeared.
Welcome to you all, we are happy you joined our Big Cutis Laxa Family.
On 30th August 2024, Rare Diseases International (RDI), the Arab Republic of Egypt, the State of Qatar and Spain co-hosted a public webinar on the campaign for a World Health Assembly (WHA) Resolution on Rare Diseases in 2025. The event featured discussions of why such a resolution is critical, what it can provide to people living with a rare disease (PLWRD) regionally and nationally and what needs to be done in order for the campaign to succeed.
Despite recent global advances in recognizing the unmet needs of PLWRD, notably the 2021 UN Resolution on Persons Living with a Rare Disease and their Families, the community still faces a number of significant challenges. In particular, limited access to treatments and care, delayed diagnosis, and elevated financial burden. These struggles are often exacerbated in low- and middle-income countries.
A WHA Resolution on Rare Diseases would help address these challenges by building on the momentum generated by the UN Resolution and instituting a comprehensive, health-focused global framework for rare diseases with clear targets and deadlines for all WHO Member States. The campaign for such a Resolution was initially spearheaded by RDI, with Egypt, Qatar, Spain, Malaysia, and France agreeing to act as co-sponsors. (©orphanews 2024.09.18)
5 % of the global population are suffering from a rare disorder
Equity for people living with a rare disorder means equitable access to diagnosis, treatments, care, social protection and opportunities
300 million people worldwide live with a rare disorder. That is equivalent to the population of the 3rd biggest country.
After two years of hard work, the CONECT project (Cardio-Ocular Network for Connective Tissue disorders) has come to the end of its funding.
It was important to meet to thing about the future of CONECT and the funding it requires, but also about common projects that may concern some of CONECT’s members. This is why we gathered together in Philadelphia 24th to 26th July.
Besides the pleasure to see us without any screen and sharing special moments, we had a whole day of work and reflection about future projects.
They are still in preparation, but I will certainly have the opportunity to let you know about them in future issues of CLI-News. It also was very important to exchange and see how our lives follow similar and parallel pathways.
These are extremely numerous so it is difficult to give all details here. Whether it was Conferences (G5 Health, ECRD, etc), or Annual Meetings (RDI, Eurordis, etc), or workgroups (ERN-Skin, Globalskin, FFP, Fimarad, etc) or even Webinars or trainings sessions(ANSM, AMR, etc), being able to attend on line is more economical, more ecological, less tiring, even though face-to-face meetings allow more richer exchanges.
And many others………………….
The most important event for rare skin disorders was held in Paris from 12th to 14th June.
The World Congress on Rare Skin Disorders (WCRSD) gathered together doctors, researchers,patients and industries.
The patient’s point of view was at the core of common interests with a plenary session organised by the patients which attracted over 150 participants.
The session gave a voice to patient representatives coming from South America, Africa, Nepal and the Philippines.
Two other sessions provided a large space for patients’ participation.
One was dedicated to Patient Education Programmes
and the other touched on the future and how to increase our togetherness to improve diagnosis and treatments.
These were three intense days full of exchanges, discussions and future projects for patients’ improved condition.
All you need to know about Cutis Laxa, all your questions are in Pr Callewaert’s interview
(in French)
In Geneva,
taking the opportunity of the World Health Assembly,
on 29th May, two events were organised to bring the voice of rare and dermatologic disorders to the World Health Organisation (WHO).
Globalskin (IADPO) had choosen « Skin Diseases as a Global Public Health Priority – No Universal Health Coverage without Skin Health » as a subject to think about and work on.
Regarding Rare Diseass International (RDI), the importance of investment in rare disorders was at the heart of discussions with the final aim of The World Health Assembly drafting a resolution on rare diseases in 2025. A first step was made with RDI being admitted as an official partner of the WHO.