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.

5 Reasons You Should Give to CheckOrphan on Giving Tuesday

barbara_mcclintock_1902-1992_shown_in_her_laboratory_in_1947

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.

twitter-gt

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.

itpaware2016

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.

HD 2FB

HD 3FB

HD 5FB

HD 6FB

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