Working with Huntington’s Patients, Seizing the Damocles Sword

 

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 myopathyHuntington’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 stationA 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

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