5 Reasons You Should Give to CheckOrphan on Giving Tuesday

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Have you ever heard of Giving Tuesday? I hadn’t either until this year. It’s a day devoted to giving to charities, which is something we should all think about. Of course, there are literally thousands of charities out there that are worthy of your support, but I’d like to give you five reasons to consider CheckOrphan.

1. Rare diseases aren’t that rare.

Of course, every rare disease is rare, otherwise, it wouldn’t be on the list of rare diseases, but there are literally thousands of rare diseases — more than 7,000 rare diseases. That means that while you have a terribly small chance of having any one of these diseases when you add them all up, there may be 30 million people in Europe alone, who suffer from one of these diseases.

2. You or someone in your family probably has a rare or orphan disease. 

Giving to an organization which can help your family probably seems a little less than altruistic, but you’re not only helping your family, you’re helping everyone else who suffers from one of these orphaned diseases. For instance, I have three friends with children who suffer from mitochondrial diseases. One child has normal brain function but is fed through a tube, the second has physical and mental limitations but can walk and talk and learn, and the third will never progress beyond the mental capabilities of an infant. Scroll through the list of diseases—you might be surprised what you see.

3. Orphan diseases affect us in many ways.

When there are only a few people with any given rare disease, doctors aren’t great at identifying, diagnosing, and treating the disease. There isn’t the research to back it up and no pharmaceutical sales rep is knocking at their door, begging to share the latest treatment. Which means that if you have one of these diseases, the trips to doctors can be endless—trying to figure out what can possibly be done. One friend, who suffers from a rare autoimmune disorder, has a doctor who is more than willing to help, but limited in what he can do. It affects the amount of time she has to take off work. It affects how she can parent her children. It affects every aspect of her life—which means it affects her whole community. A solution would make many people’s lives easier.

4. Drug development is expensive.

People love to bash pharma for the amount of money they spend on marketing, but there are real costs in research and development. If a company can’t make back that investment, they aren’t as motivated to work on a treatment for that particular disease. That’s how diseases end up orphaned—there’s nobody really focusing on it and developing treatment options. CheckOrphan brings attention to these orphan diseases and hope to the rare disease community. That’s worth it.

5. People need support.

There won’t be magical cures overnight, but there can be hope. When research into rare diseases has funding, the victims of these diseases are given hope that there might one day be a cure. We should never underestimate the value of hope. Additionally, CheckOrphan can help people connect with others who are going through the same problems. That not only helps people emotionally—it can actually help them cope with the disease. If a person from Switzerland and a person from Australia with the same rare disease communicate with one another, they can also share how their doctors are treating them and their particular symptoms. Additionally, if the Swiss patient learns of new clinical trials with improved medication, they can share their information with their Australian counterpart, who can then try and find out if a similar trial exists in their country. Not all doctors are aware of every new or ongoing clinical trial and what hospitals are a part of it.

On Giving Tuesday, take the time to think about sharing a bit of your wealth with those who are helping out so many people with so many different problems. You’ll find it worth it.

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Photo credit: Wikimedia Commons. Barbara McClintock (1902-1992), Department of Genetics, Carnegie Institution at Cold Spring Harbor, New York, shown in her laboratory.

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.

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Global PF Awareness Month

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.

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.

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

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. Continue reading

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