Disorder: The Rare Film Festival

“You May Never Be More Moved at the Movies”

Disorder: The Rare Disease Film Festival is to be held in Boston in October. The festival is a new event with films from around the world that will feature the challenges of daily life while living with a rare disease. Many, though not all, of the films are documentaries. The filmmakers in attendance will have a question and answer session with the audience following the presentation of their films. In addition, rare disease researchers and patient advocates will also share their experiences.

Rare diseases pose a significant medical and economic burden for patients, their caregivers, their communities, and their healthcare systems. Although there are  an estimated 7,000 known rare diseases, that number does not reflect the countless number of family members, caregivers, and friends who watch a loved one struggle with health challenges. The challenges arise from lack of effective, or known, medication, lack of knowledge, lack of funding, lack of research. Disorder: The Rare Disease Film Festival hopes to change that by providing awareness of the challenges that the sufferers of rare diseases face.

The total number of Americans living with a rare disease is estimated to be between 25 and 30 million. This estimate shows that while an individual disease may be rare, the total number of people dealing with a rare disease is actually quite considerable. They are your friends, neighbors, family members, and co-workers and you might not know the daily obstacles they must manage.

Disorder: the Rare Disease Film Festival hopes to personalize the struggles of sufferers rare diseases by showing real people who face real adversity. It is the brainchild of two dads who have  children who face their own challenges and obstacles because of a rare disease. Bo Bigelow is the founder of MaineRare, and took to social media to help find a diagnosis for his daughter’s rare genetic disorder. Daniel Defabio has written about and has produced a documentary on Menkes Syndrome. Together, they aspire to bring awareness to rare disease by showcasing those who are faced with difficulties.

Disorder: the Rare Disease Film Festival hopes to increase awareness and provide a face for rare diseases. As we move together into the future, it is this awareness that will help spur new research and finding new medicines and new treatments. For more information on the festival, visit their website at:

https://www.rarediseasefilmfestival.com.

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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). 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’.

Smiling Girl with Hands Covered in Paint

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.

 

Rare Disease Day: Get to Know Rare Disorders & Manage Them Better

by Assunta Ginanneschi

Recently Cathy, a friend of mine,  asked me “what do you mean by “rare diseases”?” That’s a very good question! Rare diseases are considered rare because not many people have them.

Actually the precise amount depends on the jurisdiction: the European Union, for example, defines a rare disease as one with a prevalence of no more than 50 people per 100,000 population, whereas the United States sets a numerical maximum of fewer than 200,000 people in this country.

Moreover, some conditions that initially are classified as rare eventually outgrow that categorization. Previously under-diagnosed diseases, Asperger’s syndrome for example, turned out to be much more common than originally thought. Continue reading

Noemi’s Story: Filamin C Myopathy and the Race Against Time

by Assunta Ginanneschi

This blog post tells the story of Noemi B.* and Filamin C myopathy. Noemi is a friend I met via a social networking site. Though we originally met to get practice speaking each other’s language, we soon became good friends.  We met quite regularly for travels around Europe or just shopping and a cup of coffee. It never occurred to me that she had a rare disease, let alone a debilitating one. Then, one day while hiking in the mountains, she suddenly got very tired. I couldn’t imagine how she could get so tired so quickly. That was when she told me she has a rare disease: Filamin C myopathy. I never heard of it before and actually it’s so rare that it wasn’t yet in the Checkorphan database, though thanks to Noemi it is now.

Filamin C myopathy is one of several types of myofibrillar myopathies, a class of muscular dystrophies that affects muscle function and causes weakness, as explained in this video. Continue reading

Luca’s Story: Living with Favism (G6PD deficiency)

by Assunta Ginanneschi

They are called “rare diseases”, but experience shows they are not that rare at all!

Personally, I know at least three people affected by rare diseases. In fact, on average, one of  every 10 to 12 people you know has a rare disease. As Jessie J might say, “Nobody’s  perfect”.

Which is to say, everybody has some peculiarity, or if you wish, everybody is rare!

This blog post will concern favism, also known as glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency). Let’s start with the story of my good friend Luca T.* I still remember his wedding…what a wonderful day!

Continue reading