FH Awareness Day

The FH Foundation has designated September 24 as FH Awareness Day.

Learn more about Homozygous Familial Hypercholesterolemia, also known as autosomal recessive hypercholesterolemia (ADH) from the CheckOrphan Rare Disease Database.

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Global PF Awareness Month

September is Global PF Awareness Month! The Pulmonary Fibrosis Foundation (PFF) has designated September as Global Pulmonary Fibrosis Awareness Month. Part of their awareness efforts include a #BlueUp4PF campaign.

CheckOrphan staffers were happy to go blue to help raise awareness of this rare disease.

Learn more about idiopathic pulmonary fibrosis.

Living in Spite of the Damocles’s Sword

by Stefano Torti

I was able to learn a lot about Huntington’s disease… but that woman’s dignified sadness still haunted me, so to speak. I kept thinking about her and her sons, especially the pre-symptomatic one… how could he find the motivation to get up every day, knowing what was in store for him? How could he work, live and love in spite of such a Damocles’s sword?

The question grew important to me as the days went by: how can someone find new possibilities and motivation as their share of healthy lifetime was to be cut in such a cruel way?

Eventually, I decided to devote my M.A. thesis to answering that question. How it happened to be and how I made it will be the topic of this post. Continue reading

Huntington’s Disease Awareness Month

May is Huntington’s Disease Awareness Month.

As Stefano relates in his recent blog post, Huntington’s is a devastating disease that involves virtually all aspects of the affected person’s functioning, leading to an irreversible decline of motor and cognitive abilities and to behavioral disorders, up to paralysis and dementia.

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Join CheckOrphan, the International Huntington Association and your local Huntington’s Disease organization in raising awareness of this crippling disease.

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

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’.

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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.