The ethics of prenatal diagnosis

A recent article published in “Maternal Health, Neonatology, and Perinatology” describes various ethical issues associated with prenatal diagnosis. “Prenatal diagnosis” is an umbrella term encompassing a range of genetic tests which are conducted prior to birth.

These procedures vary in risk level and invasiveness, but all aim to detect any genetic disorders present in the foetus. They can be divided into two categories: preimplantation genetic testing, and prenatal diagnostic procedures during pregnancy.

These procedures generate a large amount of data which may not be well-communicated to couples. Prenatal diagnostic procedures findings can be difficult for parents to interpret and their decisions may therefore be made on the basis of misconceptions about the likelihood or potential severity of a condition.

Moreover, many of the applications of prenatal diagnosis are themselves ethically controversial, and are the subject of significant debate. Overall, there is a need for clear guidelines on the use of prenatal testing.

(orphanews 2023.02.28)

Monthly newspaper « Le Trombinoscope » – dossier on Rare Disease Day « patients face taxing times and their organisations too ! »

read this article (in French)

Teachers’ role in the inclusion of students with rare diseases

A new study published inFrontiers in Psychology investigated the different teaching variables which affect the inclusion of students with rare diseases. In education, as in other fields, those students have specific needs. These needs are often unmet, due to a general lack of education of teachers and the wide variety of rare diseases. Data collected from the questionnaire filled in by teachers in La Mancha (Castille-Spain), shows that while they were in favor of including students with rare diseases, as a whole, they lacked the requisite knowledge about their specific needs. These results indicate that specific training and resources to offer bespoke educational responses to students with rare diseases are needed. If teachers are more aware of the specific challenges facing these students, their needs will be better addressed and their wellbeing will be improved. (orphanews 2023.01.31)

Youtube with “Tibo InShape”

New video

Cécile was interviewed by #Tibo InShape on his youtube page.

A very serious, but joyful, moment that also allowed us to open an online funding page

 https://www.leetchi.com/c/cutis-laxa-international

 

UKRAINE

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/

Other Events in 2022

1st February: Pharmaceuticals Seminar

10th April : Our Little Stars” stall and entertainment

6th July : Pierre Fabre Contest, Marie-Claude Boiteux was a member of the Grand Jury that awarded the Price of the Best Patient-Centered project presented by the international chapters of the Pierre Fabre Group.

30th September and  1st October :  CHAM 2022 gathered together all stakeholders of tomorrow’s health : Politicians, Health Professionals, Institutional bodies, Pharma Industries and Patient Organisations.

Rare and I live with it

Cécile was interviewed by Handicap.fr for their new podcast

“Rare and I live with it”.

You can listen to it (in French):

on google

Or read the abstract:

here :

CLI at the Dermatology Days of Paris

29th November – 3rd December 2022 :

Dermatology Days of Paris (JDP).

Pr Dupin opened the  « Associations’ Village ».

This year, CLI not only had a  stall,

but we also took part in « Canal JDP » for a cross-interview with Pr Ludovic Martin « Cutis Laxa : Hope for the patients ».

Watch the video here

And our poster was also part of the official exhibition.

4th Conference of the French Federation for Skin (Report)

29th November 2022 :

4th Conference of the FFP on the theme « Health Journey in Dermatology »

Pr Dupin, Chair of the French Society of Dermatology (SFD) and Pr Beylot-Barry, presented the challenges and prospects, further developped by Dr Sulimovic, Chair of the National Union of Dermatologists-Venereologists (SNDV), specifically regarding access to dermatologists in town (rather than in hospital). For this part, Pr Bodemer focused on issues regarding Paediatric Dermatology.

 

We ended the morning with a roundtable dedicated to “Holistic care of the Patient”.

We spent the afternoon in workshops to reflect on the synthesis of local meetings organised around the review of the Local Projects for Health.  A great, rich, participative and interesting day, as speakers and attendees said in their comments.

And the next day we opened the FFP Stall for the Paris Dermatology Days