Help Make the World #ITPaware

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.

itpaware2016

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.   Continue reading

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.

 

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