Good-Bye ERIC

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I am so very sad to announce that Eric MOLINIE left this world on 21st December 2022.

Eric was former chair of AFM-Téléthon in France. He was himself diagnosed with Duchenne Myopathy.

He is the one who made it possible for Cutis Laxa to be known and research be done.

We had explained to Eric that without enough known patients research would never be done on such a rare disorder. He had promised that if we knew at least 10 patients, AFM-Généthon would start a research.

In december 2001, Cécile took part in the French Téléthon for the second time. At that time, we knew of 9 patients in France and abroad. Cutis Laxa International was just 1 month old, being set up on 11th November 2001.

We were on stage, live, explaining that 10 patients were needed, at least, to start a research, when Eric quickly rolled his wheelchair to join us, saying that a 10th patient had called the AFM and that, keeping his promise, Genethon will start a research project.

And on February 2002, it started.

We were all crying on stage. And still today, 20 years later, this memory brings me tears and shivers.

Thank you Eric, Without you the 520 patients we know of today would not have research going on giving them hope for the future.

Thank you Eric, for staying faithfully at our side during all these years.

Rest In Peace dear Friend

Welcome

New Patients

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Cutis Laxa Internationale now gathers 517 patients coming from all parts of the world:

Stacy, Amber, Ayse, Celia, Deacon, Emmy, Scott, Anna, Em, Amelie, Patricia, Yousef, Nora Grace, Warisha and Nicole joined us since our last newsletter.

Our Big Cutis Laxa Family is glad to welcome them and give them all the help and support they need.

 

Very sadly I need to let you know that two of our members passed away : Anaaya, 3 ½ , in India and  Dominique, 51, in France. Again, we send our deepest condolences to their families. May they Rest in Peace.

UKRAINE

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As war still goes on, Ukraine faces a humanitarian crisis and rare disease patients are the most affected by the conflict. 2 million Ukrainians have a rare disease and face the sizeable challenge of meeting the complex medical needs on their own.

The EU, Eurordis, ERNs, Orphanet and all the members of the European rare diseases sector joined forces and organized everything to give displaced Ukrainian patients the best help they could: list of medical centres abroad, safe transfer of patients across Europe, access to medicines and medical equipment in Ukraine despite the destruction of vital infrastructures, list of rare disease resources for refugees and displaced persons, and much more, see

https://www.standwithukraine.how/

GOOD-BYE

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Time to go home….. It is so hard to leave each other.

Longing to meet again ……. Roll on the 7th Days …

Breaks and Fun Times

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SYMPOSIUM LUNCH BREAK

CHILDREN GAMES

BOAT TOUR

Diner Times

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PIZZAS

CHINESE WOK

FESTIVE DINER

 

Prof. Dr. Christine Bodemer, MD (Paris, France) : Embedding CL in ERN Skin & ERN-Ithaca

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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.

Mrs Klára Farkas, MD (Budapest, Hungary) : Potential applications and value of novel skin imaging techniques in connective tissue disorders

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In this presentation we introduce novel imaging techniques including nonlinear optical (NLO) microscopy, multispectral imaging and high-frequency ultrasounds (HFUS) to visualize the characteristic changes in  Connective Tissue Disorders (CTDs).

The novel imaging techniques may prove useful in the early diagnosis of CTDs.

They may be also used for the objective follow-up of the progression of CTDs, and the assessment of the efficacy of novel therapeutic approaches in the future.