About CheckOrphan

CheckOrphan is the leading news and information portal about rare diseases, orphan drugs and orphan products

Rare Diseases and Genetic Screening: Scientific Tests with Human Impact

by Assunta Ginanneschi

The aim of this blog is to arise awareness around  specific rare diseases and create a network of experts, competences and resources around them. Our role is to facilitate the communication between patients, associations and physicians.
During our networking activitiesfoto_settembre.2015_piccola we came across the
dissertation of a young Italian psychologistwho focussed the first part of his thesis work on genetic tests and their impact on patient private and professional life. We asked him to collaborate with us and he accepted welcome on board, Stefano! Continue reading

Rare Diseases and Clinical Trials: Discovering Suitable Drugs for Adults and Children

by Assunta Ginanneschi

Recently we received an official blog request about a very delicate theme: Better medicine for children. Dr. Rose came to us through the pediatric & rare disease congress that took place in Basel in February 2016.

My colleagues Rieka and Nicole attended on behalf of CheckOrphan. After the conference, the three of them  exchanged ideas and thoughts about rare diseases as well as the actual status for clinical trials with children. A couple of meetings later, we started  collaborating with him. We are really very glad to arise awareness about this topic, thank Dr. Rose for approaching us about it. Continue reading

Marc*’s Story: Feeling like an Outsider, Alone with PANDAS Disorder

by Assunta Ginanneschi

Apparently our blog is getting popular, and we are very happy about that!

This time we’ve got a request from Paula*, a former classmate of mine, who asked me to blog on PANDAS . Her neighbor Marc* is affected by this rare disease; as a result, his entire family has been on a therapeutic odyssey of epic proportions.

At the age of 3,  Marc had a severe case of strep throat, that worsened into Mononucleosis. He was hospitalized. After an antibiotic treatment, he recovered well and was discharged from hospital as a healthy child.  A few weeks later he developed some tics, which he had never had before.   Continue reading

Charlotte D.’s Story: The daily Challenge of Takayasu’s Arteritis

by Assunta Ginanneschi

This blog post is dedicated to Charlotte D.*, a neighbor of mine.

I met Charlotte few days after I’ve moved into my new apartment. I was wondering what the D button in the lift was and I pushed it. I realized it was Dach (roof, in German). As I got out of the lift I heard some music coming from upstairs and a voice calling “Who’s there? I cannot see”. Then suddenly she appeared, Charlotte, a fragile fine lady, around 60. She organized her ceramic atelier in the small room just below the roof. I presented myself as the new neighbor and she invited me to come along again for a cup of tea. During one of our chats I dared to ask Charlotte how she had become blind and she told me about her disease, Takayasu’s arteritis (TA). Continue reading

Join CheckOrphan in raising awareness of rare diseases around the world!

Join CheckOrphan in raising awareness of rare diseases around the world! 

Today, the last day in February, is Rare Disease Day 2016! This year the slogan is ‘Join us in making the voice of rare diseases heard’.

Smiling Girl with Hands Covered in Paint

Smiling Girl with Hands Covered in Paint — Image by © Royalty-Free/Corbis

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People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation. Join the rare disease community and make the impact of rare diseases known.