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.
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
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.
Join CheckOrphan, the International Huntington Association and your local Huntington’s Disease organization in raising awareness of this crippling disease.
by Stefano Torti
With this post, we welcome Stefano as our guest blogger. We invite others to join our roster of bloggers. Please feel free to contact CheckOrphan about writing your own rare disease stories.
Stefano has worked with Huntington’s patients. As with Noemi’s myopathy, Huntington’s disease is autosomal dominant and appears quite late, generally between the ages of 30 and 50.
In his thesis work, our guest blogger analyzed the psychosocial impact of predictive medicine. Generally the diagnostic process for rare diseases is already available, but the treatment is not yet optimized. This gap impacts patients’ private and professional lives as well as their future reproductive choices. Please Stefano go ahead, the floor is yours!
How Stefano knew about HD
Thank you, Assunta!
I heard of Huntington’s disease for the first time about two years ago. It was a spring night. I was idly zapping when I landed on a local TV station. A woman was talking about a nasty illness that had struck first her estranged husband, then their eldest son, a young man in his late-20s, who had inherited the disease from his father.
This condition had left the both of them physically and mentally incapacitated in a few years’ time; to make matters worse, the youngest son had also inherited the genetic mutation responsible for the disease, and although healthy now, he knew he would have through the same ordeal as his father and brother, which was a source of excruciating anguish for him. Continue reading
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 activities we came across the dissertation of a young Italian psychologist, who 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
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