September is national ITP Awareness Month in the US. Learn more from the Platelet Disorder Support Association and join us in Sporting Purple to raise awareness of ITP and other platelet disorders.
Idiopathic thrombocytopenic purpura is a rare disease that causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Resulting complications can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Learn more about ITP at CheckOrphan.org.
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.
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