Rebecca, Sami, Robert, Anna, Zoé, Mercédes, Sarah, Emily, Elena, Tawn, Ember, Mariam, Giulano, Quentin,
our Big Cutis Laxa Family is here to help and support you and to answer your questions.
Counting you, we are now 567 patients worlwide, suffering from Cutis Laxa.
11th March :
Local radio “Jordanne FM” interview with Philippe Barrière, Chair of La Pastourelle, announcing the Salers Night Fever
Read to the interview (in French)
30th March:
Facebook Page «Dermato Info»: presenting CLI
03rd May:
Charente Libre: Walking for CLI on 1st of May
30 Mai :
WHA Resolutions are voted
Read the press release (in English)
May 2025:
La Pastourelle: Brochure and Facebook page announcing the « Night Fever in Salers » to the benefit of CLI
July 2025:
Taking stock of the « Heroes Run » : CLI won the prize for the best costumes.
Alas ! more deaths plunged us in mourning:
Nathan, Maui, Tony and Tasha.
Adults or children, new members or those we’ve known for years, we always hear with great sadness that one of our members has left this world. They meet all those who have already left. They remain in our hearts and thoughts forever. May they Rest In Peace.
Orphanet Journal of Rare Diseases published the results of the survey for healthcare professionals « Pregnancy and Family Planning in Rare Diseases”
Written by the European Reference Networks (ERNs) transversal working group that brings together patient representatives (EPAGs) (of which Marie-Claude Boiteux) and healthcare professionals (HCP) from 20 ERNs . After identifying 7 transversal domains to be explored in the survey (Fertility preservation, Pre-conceptional counseling, Family Planning counseling, Pre-implantation diagnosis, Prenatal diagnosis, Pregnancy monitoring, Post pregnancy monitoring/ lactation monitoring/counseling/newborn management), the group established closed and open-ended questions for each domain. These questions explored the level of importance, the activities performed by the center, the clinical challenges, the good practice and the educational activities related to the selected topics.
HCP, from 24 different countries answered the survey.
“Pre-conceptional counselling” and “pregnancy monitoring” were mentioned as important/very important at 83.3% and 75.6%, respectively. And « Family Planning Counselling » was considered very important/important at 71,6%.
The conclusions of this survey are pointing unmet needs for HCPs, including the need to improve communication between different HCPs, the lack of predefined organizational pathways, the lack of availability of expert HCPs for some pregnancy-related issues and the need to streamline the care provided among different European countries.
In addition, the survey underlined the need to improve the educational activities provided to ra
re disease patients.
Overall, the results pointed out the need to educate both physicians and patients on the basis of the emerging unmet needs. Online resources can be an excellent educational tool, they may help in disseminating and standardizing educational activities in order to homogenize the information for HCPs and patients.
Therefore, initiatives in this direction by scientific societies, ERNs and patient associations should be promoted and encouraged
A second questionnaire had been sent to patients. The answers are being analysed and should be soon published. It will then be possible to compare HCPs’ and patients’ views.
16th January 2025 : Executive Committee (on line)
This annual meeting highlights the main aims, and projects for the coming years
2nd-3rd July 2025 : Scientific Days
The latest research on each pathology, clinical cases and the work of young researchers were presented so we would be updated on the work and projects led in our European network.
The work done by patient representatives was also honored with Marie-Claude Boiteux’s presentation of the publication « Pregnancy and Family Planning in Rare Disorders – A Heathcare Professionals survey » (see the post on this survey)
Recognising Disabilities and Barriers in rare skin disorder : key-findings of the Rare barometer survey
1st MAY in DOUZAT
The Festival Committee and the association for the “Blood Donations” had chosen us to be the beneficiaries of their annual walk. Good weather guaranteed on this first day of May and beautiful energy with all participants.
Mélissa and her father Serge, our Vice-Chair, shared their expertise by experience of living with Cutis Laxa. € 684 were raised.
1st MAY in SIREUIL
For many years Serge has been involved in the organisation of the “Trail du Brin d’Aillet” in his town of Sireuil.
Every year, Cutis Laxa International receives the benefits of this friendly event which welcomes many participants. The financial statement is not yet finalized.
25 th MAY in SAINT PIERRE DE CHANDIEU (France)
Roxanne’s parents once again put all their energy into running the Cutis Laxa Internationale stand during the flea market organized in their town. Information on the disease, various contacts and sale of merchandise; another great day for the benefit of CLI with nearly 170 €.
22 nd JUNE in SIREUIL
Second annual event organized in Sireuil, where our Vice-President and his daughter Mélissa live.
Every year as usual, the triathlon offers a competition in three sports: cycling, swimming and running. Cutis Laxa International has been a long-time beneficiary of this event. The two sporting events in Sireuil meant we received €2,500 in 2024. The assessment is underway for 2025, so we do not yet know the final total.
IN GENEVA
21st-22ndMay 2025 :
Marie-Claude Boiteux was there to support two important resolutions to be voted by the World Health Assembly (WHA).
The first one, presented by Globalskin, is asking for Skin Disorders to be placed as a global public health priority.
The second one, presented by Rare Disease International for its part, asks for Rare Disorders to be placed as a global public health priority.
Cutis Laxa is a rare and skin disorder. These two resolutions, unanimously voted by WHA in its 24th May 2025 session, are then essential for our patients worldwide.
They open the path to global action plans focused on prevention, early diagnosis, efficient treatment and long term care for all people suffering from rare cutaneous disorders worldwide.
They also promote equitable access to affordable and quality services and integrate skin health in larger healthcare systems.
Healthcare professionals have not been forgotten as the resolutions also call for promoting research on skin disorders in collaboration with academic and research institutions, and for improving data collection, research and monitoring on rare disorders to develop strategies to enhance understanding, timely and confirmed early identification,including screening, diagnosis and treatment options.
We must now carry on working for those Global Action Plans to be implemented and fit with patients’ needs worldwide.
18th MAY in LYON (France)
A great festive moment in the heart of the city of Lyon, the “Heroes’ Race” took over the Parc Gerland.
This event brings together volunteers from many associations, each one responsible for collecting donations for their association from their relatives, families, friends and colleagues.
We had 7 “Heroes”: Roxanne’s father, mother, aunt and great-aunt, Cécile’s husband and sister-in-law, as well as one of our researchers in Lyon, Professor Romain Debret. They all worked hard to raise more than €5,700. A thousand BRAVOS to all of them.
To top it off, thanks to Roxanne’s mom and the fabulous costumes she made and brought, we won the Best Costume Award: an extra €500 in our kitty.
A joyful, friendly day, full of laughter, joy, shared happiness and a picnic under the cool of the trees.
8th MAY in SALERS (France)
For its 25th edition, La Pastourelle, a renowned sporting event bringing together more than 6000 participants around trail and mountain bike events and a hike, chose Cutis Laxa International to be honored
During the 3 days dedicated to mountain sports, not only did we have a stand at our disposal with information about Cutis Laxa, but also, an exceptional race “The Salers Night Fever” was dedicated to us.
On the stand, in the nighttime atmosphere of the streets of the magnificent village of Salers and during the races among the extinct volcanos of the Massif Central, Roxanne and her family as well as Marie-Claude Boiteux and Cécile were able to make Cutis Laxa known and show that despite the disease, life can be rich and beautiful.
A cheque for €2,500 was given to us and we sold €360 worth of merchandise on the stand
