NEW MUTATIONS

Even if I cannot tell you more since publications have not yet taken place, I am very happy and proud of our researchers who work on Cutis Laxa :

5 NEW MUTATIONS have just been discovered.

For all patients whose precise type has not yet been identified, this is an extraordinary chance.

You can be tested now with the new mutations.

Attending the 6th Cutis Laxa Days in Ghent in September 2022  can be the opportunity for you to know more about the precise type you are suffering from.

Welcome

Our « Big Cutis Laxa Family » grows day after day.

Its new members : Joanna, Ayse and her two brothers, Delphine, Elizabeth, Adar, Aakshay, Fabricio, Solange, Andrea, Zahid, Dilsa, Jannae & Julia, Fatiha and her sister, MaryAnn come from Poland, Turkey, Canada, Saoudy Arabia , USA, Israel, Brazil, Italy, Colombia, France.

All around the world, 479 patients are now part of our Cutis Laxa patients’ community.

 

On 27th May I heard with deep sorrow about Maddie’s passing. She was  19 months old. I had talked a lot with her mother during her long stay in hospital. Rest in peace sweet angel, your pain has disappeared.

In the Media

They talk about Cutis Laxa :

On 16th March, Chiara’s testimony (in French and in Italian) was posted on Facebook : https://www.facebook.com/photo?fbid=3509557279156318&set=pcb.3509561645822548

 

On 7th April, « Le Tribunal du net » edited an interview with Cécile (in French).  Watch it again on our website https://www.cutislaxa.org/fr/quoi-de-neuf/ (videos) or on the “Tribunal du Net” page “https://www.facebook.com/letribunaldunet/videos/1782251148618795

 

In April and May, every week, Ewenlife published one of the 8 videos about Cutis Laxa. From diagnosis to medico-social care and treatments, all issues are tackled. You can watch them again (in French or with subtitles in your own language) on our website https://www.cutislaxa.org/fr/quoi-de-neuf/ (videos) or on Youtube :  https://www.youtube.com/watch?v=XPI5X03FOEw&list=PLvUNl3idDQjTKEL_-tfQjZUE9ixRnH_aD

The French Federation for SKIN (FFP) is working hard

Since the beginning of the year, Georges Martinho, FFP General Delegate, led several projects at the double all showing positive and very promissing results :

  • The FFP plea was published in March. It gathers together the difficulties, needs and proposals of thousands of persons suffering from skin diseases in France, wether these diseases are rare or not. Delivered to all Health Authorities and elected Representatives acrossthe country, its aims are : long-term improvment of quality of life for skin patients ; advocacy against social and local inequalities ; improved support of care journeys ; getting patients’ expertise recognised. The first reactions are very positive.

 

  • National Office of Solidarity for Autonomy (CNSA) and Local Houses for Disabled People (MDPH) working towards the recognition of a « Skin Disability » and adapting the administrative steps to the reality and specificities of dermatologic diseases.
  • Rallying Members of Parliament : After sending the petition, several meetings have taken place with Members of Parliament and Senators. The working areas fo the Members of Parliament and the FFP include meeting patients to increas knowledge of their needs, bringing the issues to the parliamentary debate and proposing amendments to legislation.
  • Taking par in the inter-associative task-force of pharmaceutical industries : Following the recommendations published by the European Commission on how to improve the information on health products, a survey and a meeting allowed members of the FFP to share their point of view and take part in this work.
  • Educational aids for children and teenagers : These aids have an informative and educational aim illustrated by concrete situations. We will soon start working with illustrators, various tools have been mentioned (books, videos,etc). The first two aids, for 6-11 year olds and 12-18 year olds, are taking shape and should be edited by the end of this year.

 

The FFP is doing great and has real concrete results.

ERN-Skin Activities

19th February : First ERN-Skin Scientific Day

114 doctors and researchers attended. Each thematic group presented the work done on the disorders they are concerned with.

For the Heritable Connective Tissue Disorders (HCTD), a study is taking place in the Netherlands to evaluate prevalence and severity of fatigue, pain, disability and global health for children and teenagers suffering from the most common HCTD.

Other topics were presented such as interconnections between nervous system and skin system, and also innovative methodologies

 

8th June : ERN-Skin Executive Committee

During this meeting  the agenda was very fully.

Marie-Claude Boiteux presented the epags’ work on « Patient Journeys » for each disorder concerned by ERN-Skin,

And then the Patients Satisfaction Survey, Registries,

e-learning,

the SPOT application,

Exchange programme,

Results of 2020

and organising, in Paris in 2022, the next Rare Skin Diseases World Congres –

these wide ranging questions showed ERN-Skin’s dynamism and how it implements concrete projects.

workgroups, training and information for Patient Representatives (ePAGS

On 18th March

« Good Practice : How to measure results, What is Quality of Life, How to build up a survey, …»

On 9th June 

ePAGS Steering Committee meeting

The first half of the year was quite busy with Eurordis

On 12th May : Annual Members meeting

on 10th June : Annual General Meeting

Setting up RDI (Rare Diseases International), editing surveys on a regular basis (Rare Barometer), helping patient representatives in the European Reference Networks (ePags), European Conference on Rare Diseases (ECRD), advocating at the European (EC) and international (UN, WHO) levels, etc…

The actions led by Eurordis have changed, change and will continue to change the quality of life and care for people living with a rare disease in Europe and worldwide.

There is no lack of work.

Cutis Laxa Videos ……… N°8 ……. last one

Here is the 8th …..and last…..of our videos

“Advice and support : “we are here !”” …  this is my conclusion

and also how we, parents, can help our “different” children.

I hope you enjoyed those videos.

you can find the 8 videos on the playlist :

 

and don’t forget you can have subtittles in your own language

Cutis Laxa Videos …… N°7

Treatments and surgeries are the topics of our 7th video about Cutis Laxa

 

 

And don’t forget you can get subtittles in your own language.

Patients’ inequalities of treatment

Patients’ inequalities of treatment

(Opinion piece published in « Le Monde » (French newspaper) on 15th May 2021).

Even if this piece concerned Bourneville Tuberous Sclerosis, another rare skin disorder, Cutis Laxa shares most of its arguments :

* The Diagnosis odyssey

 

* Various Symptoms that do not make the disease « visible » to the Authorities

 

* Only one support organisation, the only recourse to advocate for patients’ rights, and the only source of funding of projects led by the organisation.

 

Little/no support for research

 

* Depending on where they live, some patients do not have access to expertise for their disease.

 

Refusal to cover travelling costs to hospitals

 

It is necessary to break those inequalities in funding and favour patients instead of economics.