World Duchenne Awareness Day

Today is World Duchenne Awareness Day. Thanks for helping us to increase awareness.

You can get more information about Duchenne disease in our website:

 

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.

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.

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

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 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.

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 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!

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.

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.  

International Women’s Day 8 March

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).

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 — Image by © Royalty-Free/Corbis

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.