What You Can Do For Rare Disease Day

 

February 28 is Rare Disease Day. This year’s theme is With research, possibilities are limitless.” This is true, but, unfortunately, research is also expensive and difficult. What can we do to help cure rare diseases?

Consider the Possibility

Imagine if you or a loved one had a disease where information about it was rare and hard to come by. Where your doctor was just as bewildered as you are. It’s a frustrating position to be in, but most people don’t think it will happen to them—after all, rare diseases are (by definition) rare.

While you have a minuscule chance of contracting any single rare disease, there are so many rare diseases that your chances of being affected by at least one is pretty high. 30 million people in Europe have at least one rare disease.

If you have been diagnosed with a rare disease, you know how frustrating getting information can be. If you just have an undiagnosed problem, that is stumping your physicians, it can be even worse. You understand that the unthinkable can and does happen to you and people you love. So, what can you do to help fight rare diseases?

Share Information

If you have a rare disease diagnosis, share what information you have about your disease and its treatment. For many rare diseases, a standard treatment protocol doesn’t exist. So, let people know what works for you and, importantly, what doesn’t work for you. People often are happy to share successes but not failures. However, the failures are just as important—they allow other people to skip the steps you went through.

Encourage (and Allow) Your Doctor to Share Information

Privacy laws vary from country to country and your doctors won’t violate those laws by talking about you specifically, unless you give them permission to do so. Why is this important? Because while they can talk about Patient X, a 35-year-old female with Sabinas Brittle Hair Syndrom, it’s a lot more influential if your doctor can give a presentation and talk about your specifics. Why? Because then you are a real person. A human being with feelings and a family and struggles related to real life and your disease.

Donate Money and Time

Most of us aren’t sitting on piles of cash, but if you are, consider giving some of that cash to help with rare disease research. Because each disease is rare, there isn’t enough money to go around to research each one. If you aren’t sitting on a pile of cash, you can still contribute what you can, or contribute something else valuable—your time.

How can you help if you’re not a doctor or a scientist? Well, you can help raise funds. You can share your experiences with your disease.You can help a friend who is suffering from a difficult condition. Something as simple as offering someone a ride to the doctor, or sitting in and taking notes while your friend talks with her doctor can be an invaluable help.

Contact Your Elected Officials

Politicians are all about being re-elected. They care about what their constituents care about. So, make sure they know about rare diseases. Pharmaceutical companies are happy to spend money researching treatments for common ailments because they know that if they find a successful drug they will earn back their investment, and more. But a rare disease treatment costs just as much to research without the added benefit of a high return on investment. Therefore, rare disease research often needs help from governments and charities.Let your government know that your disease affects someone in her area. It might help.

Rare diseases touch just about everyone’s lives.  Let the search for cures touch everyone’s lives as well.

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