CheckOrphan: the best place for rare disease news online

If you’re a rare disease patient group and you haven’t come across CheckOrphan yet, then go to their website now: http://www.checkorphan.org.

CheckOrphan is a non-profit organization located in Basel, Switzerland, and Santa Cruz, California, that is dedicated to rare, orphan and neglected diseases. It offers users a dynamic platform through blogs, forums, communities and other interactive tools. It also gives you a virtual office space where you can come together from remote locations to work on projects and bring about change and solutions for rare, orphan and neglected diseases.

Co-founded by Robert Derham, an impressive person with a background in medical microbiology, biochemistry and the orphan drug industry, it’s a wonderful place to find out more about rare diseases.

For instance, today Robert posted a video interview with Dr Timothy Cote, the Head of the FDA’s Office of Orphan Product Development.

Most of us rare disease groups tend to find that one of the biggest challenges we face is isolation. Few people are interested in a disease that affects hardly anyone. Aggregating rare diseases into a mass movement is crucial to helping raising awareness. That’s where organisations like CheckOrphan come in: they’re showing that rare diseases are common and are highlighting all the work that’s being carried out.

So go on, check it out now: http://www.checkorphan.org.

Some great resources for rare disease patient groups

I just got an email from Sharon Terry, the CEO and President of the amazing US-based Genetic Alliance, with some excellent links:

1.) Disease InfoSearch (http://www.geneticalliance.org/diseaseinfosearch) is an online search tool and database that is a compilation of information on genetic conditions as well as a listing of the disease-specific advocacy organizations that are part of Genetic Alliance’s network. This resource is utilized daily by patients and healthcare professionals. To create a listing for your organization, email Alyson Krokosky at akrokosky@geneticalliance.org

2.) Genetic and Rare Diseases Information Center (GARD) (http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4) serves as a resource to any member of the public – patient, health care provider, teacher, etc. – who has an unanswered question related to genetic conditions and rare diseases. Trained information specialists will provide individualized answers to questions not already answered and shared through their Q & As.

3.) National Organization for Rare Disorders (NORD) Patient Assistant Programs (http://rarediseases.org/) are available for patients looking for help obtaining medicines, early of extended access to investigational drugs, and travel and lodging assistance for clinical trial participants.

4.) Resource Repository (http://www.resourcerepository.org/) is an electronic collection of documents, links, audio, and video files, that relies on contributions from the community in topic areas such as newborn screening, family health history, genetic testing, reimbursement, research, and drug development.

5.) WikiAdvocacy (http://wikiadvocacy.org/index.php/Main_Page) is a community driven resource that shares lessons learned and practical information about starting and sustaining a support group. Add in your experience today!

The rise of patient advocacy groups

There’s more and more evidence emerging that patient groups are becoming key players in medical research and development and the quest for cures.

Just today, I was reading an update from Faster Cures about an article in the Boston Globe entitled ‘Patients take on expanded role‘. Here’s how Faster Cures summarised it:

‘Patients suffering from chronic conditions are playing an active role in health care by sharing medical information and other insights through websites, said attendees at the Massachusetts Biotechnology Council’s annual meeting. Patient advocacy groups are becoming more involved in drug development by funding research projects for new treatments and collaborating with biotech and pharmaceutical firms, said Deborah Dunsire, Millennium Pharmaceuticals’ CEO.’

The Boston Globe article points to the rise of online communities as a significant factor behind these new developments.  That’s been very much our experience too. We’ve been using Yahoo Groups and Facebook for some time for our patients to share information, and most recently we’ve been part of the Eurordis Online Communities programme, which allows patients to share information with each other.  It’s something I’d encourage all rare disease patient groups to get involved with.

The article also mentions PatientsLikeMe. Check it out – it’s an impressive website. Its stated goals is to enable people to share information that can improve the lives of patients diagnosed with life-changing diseases. To make this happen, they’ve created a platform for collecting and sharing real world, outcome-based patient data (www.patientslikeme.com) and are establishing data-sharing partnerships with doctors, pharmaceutical and medical device companies, research organizations, and non-profits.

On the R&D front, it’s clear that patient groups such as the AKU Society are at the forefront of funding medical research. Raising the funds is hard work, but without us moving the process forward, who else is going to do it?

Using social media for rare diseases

I seem to have dipped into social media years after everyone else. Last week, I finally set up a Linked In account, and invited all my contacts. Linked In is like Facebook, but for professionals. So it’s a way of keeping in touch with everyone you’ve ever worked with or been in touch with professionally. For me, it’s great, as my memory for names is like a sieve, so I can dig out people’s work profiles, find out who they know, follow them up, etc.

Linked In has a number of rare disease groups. So I immediately joined them and am now getting a steady flow of updates on the orphan drug industry, the rare disease sector, etc. Definitely a useful way of staying in touch and of promoting AKU. So if you’re not on Linked In, give it a go, and then join the rare disease groups and get involved.

If you want to join the Linked In rare disease groups, here are a few of them:

Orphan XChange: http://www.linkedin.com/groups/Orphan-XChange-3181963.

CheckOrphan: http://www.linkedin.com/groups?home=&gid=2179312.

Orphan Pharmaceuticals & Biopharmaceuticals Group: http://www.linkedin.com/groups?home=&gid=1943884.

The first group is an open one (so everyone can see the discussions, even if you’re not a member of Linked In). For the two others, you’ll need to register first.

Give it a go!

The story from an AKU patient

Living with a disease is tough at the best of times. There are added complications when it’s rare because of the general lack of knowledge about it. Here’s a story from Janet, an AKU patient, who recently posted on our online communities project run by Eurordis:

‘My name is Janet and I’m from the United States. Have you ever heard the saying, “Enjoy Life because in a blink of an eye it can all change”? In February of 1996, that is exactly what happened to me. I went in for a simple outpatient procedure on my knee and when I came out of recovery, I was told that something was not right, but they were unsure of what was wrong. The doctor explained that he had never seen anything like it but would consult with a team of doctors before telling me his diagnosis.

I returned to the doctor and was given a piece of paper with only four words: ‘Diagnosis: Chondromalacia possible Ochronosis’. He told me to make an appointment with a rheumatologist to confirm his diagnosis. I left the doctor’s office bewildered at the possibility of having an unexplained disease.

I went to the rheumatologist, handed the piece of paper with ‘Diagnosis: Chondromalacia possible Ochronosis’. The doctor replied that he felt no need to run test, that it was extremely rare and he did not feel that I had this” I begged him to please run the test for my piece of mind.

Two hellish months later I returned to the doctor for my test results. The doctor asked me one question, “If you were told that you had something wrong and nothing could be done to correct the problem would you want to know?” My answer was “Yes, because I need to know how it will affect my future”. The doctor said you have a rare incurable disease called Alkaptonuria Ochronosis.

The floor dropped from underneath me. I was full of questions. The doctor was sympathetic but basically he didn’t have any answers. He explained with rare diseases they don’t do research because so few people have it. They may never find a cure. The doctor referred me to the Children’s Hospital for Genetic and Metabolic Disease and said they would be able to answer my questions.

First question I had was, “What is Alkaptonuria Ochronosis”? The doctor explained that I lack enough of an enzyme called homogentisic acid oxidase. Because of the missing enzyme I have a buildup of homogentisic acid. I eliminate some in the urine but the rest is deposited in body tissues where it becomes toxic. The result is Ochronosis, a blue-black discoloration of connective tissue including bone, cartilage, and skin caused by deposits of ochre-colored pigment.

It is almost like gradually being poisoned. You won’t necessary die but the toxins are building up and destroying your insides. The damage causes arthritis. First it is mild, than moderate, until it gets in the severe stage and at that time you may require joint replacements. So besides the AKU you also suffer from osteoarthritis (degenerative joint disease).

I’m now in my mid 50s and over the years I have lost 4 inches in height, have blue colored ears, a brown spot in my one eye, walk with a forward stoop, have kidney stones and my teeth have discolored. I also have had several surgeries hip replacement, gallbladder, Achilles tendon rupture, and both shoulders need total replacements. Every day I wake up in extreme pain, and to get out of bed I have to pull on my blankets to be able to lift myself up. I suffer from chronic pain in almost every joint. I’m forced to take pain and arthritis medicine so I can cope.

I explain it like this to family and friends: can you imagine having the flu or a cold and never getting rid of it, every day feeling bad, some days worse than others? My spine hurts so bad that one wrong move and I get muscle spasms; it feels like I’m getting zapped with a taser gun. It’s not always easy for people to understand why I can’t do things like I did at one time. I’m exhausted constantly due to the pain. Everything I try to do is difficult for me. My sleep is interrupted; one wrong move and I wake up instantly in pain. Over the years the disease has caused depression and difficult times. I have been frustrated due to unanswered questions and the loneliness of a disease that no one seems to understand.

When a person has cancer they have support groups. When you have a rare disease it feels like you are so alone and no one cares. You are told that they may never find a cure because you are just a few and it would not benefit them to research your disease. I have done research myself for 15 years to try to get answers to my questions.

In the last few months I have heard of medicine that could take away about 95% of the toxins but the problem is cost and FDA approval in the United States. I know a cure in my lifetime may be out of the question, but when medicine exists and could slow down the progression of this disease we need to fight for ourselves and others so we can stop the suffering.

On a positive note I would like to educate others so no-one has to be alone and suffer. I will talk to any doctor or person who will listen. In the future I hope that we can get support and funding for research and eventually a cure for this painful and debilitating disease.’

Nick says: Janet’s story is a harrowing one and shows once again the urgent need for patient groups to help people with rare diseases. If you’d like to find out more, go to the Online Communities project.

Guest blog: Online communities for rare diseases

Today we have our first guest blogger: Robert Pleticha, Online Patient Communities Coordinator at Eurordis (the European Organisation of Rare Diseases). Robert’s been working hard on a new project that was officially launched yesterday. I’m sure you’ll love it and that you’ll want your patient group to be involved. It’s called Rare Disease Communities and the website is: www.rarediseasecommunities.org.

Over to you Rob…

Rob says: ‘The main idea behind the project is to create an online social network for patients and caregivers living with rare diseases in order to enable the sharing of experiences and increase access to quality information. International patient organizations collaborate to develop these communities along with Eurordis and NORD (the US National Organization for Rare Disorders). Patient organizations play a key role in governing and communicating to the community, recruiting forum moderators, and being sources of information to patients and their families.

The website is split into three sections: What, Meet, and Learn.

• The What section features patient stories and blog style updates from patients and patient organization representatives.
• The Meet section is a forum, moderated by volunteers and offering human translation services across five languages: English, French, Spanish, Italian, and German. Since patients and families are spread thinly across the globe, it is vital to create a space where information can be shared with the best possible translation.
• The Learn section is a resource of information in the form of frequently asked questions, documents, recently publish news and scientific articles, upcoming events, and patient organization’s contact information.

The project started with a pilot community for Cryopyrin Associated Periodic Syndromes. This first community brought together patient organizations in the United States and France, allowing them to connect and discuss shared treatment issues. After testing the newly developed website and attempting to create a user-friendly experience, the project expanded to include communities for Alkaptonuria, Von Hippel Lindau disease, Atypical Hemolytic Uremic Syndrome, and Familial Mediterranean Fever.

Users interested in discussing these diseases register on the website. After registering, a user can upload their story on living with the disease through a link in their profile page. The story then automatically is added to the What section and is translated into all of the platform’s languages. Users can also participate in Forum discussions or post their own questions. If a user sees a message on the Forum that is not in their language (French, German, Italian, Spanish, or English), they request a translation. Within a few hours, the message is translated and uploaded automatically to the website. The user that requested the translation is also sent an email with the translated content.

Future plans for the Rare Disease Communites project include expanding to serve new diseases like Alternating Hemiplagia of Childhood and Epidermolysis Bullosa and the inclusion of summaries and links to free, full text scientific articles through a partnership with patientINFORM.

The project is part of the strategic partnership signed in 2009 between Eurordis and NORD. The communities are guaranteed by Eurordis and NORD with a view towards fostering international collaboration amongst patient groups and protecting the voice of patients from purely commercial interests.

The project is financed by European Commission, the French Telethon (AFM) and the French Federation of Pharmaceuticals (LEEM) and a diverse array of corporate partners who play no role in the operation of these communities.’

Nick says: I think this is a great project, and not just because AKU is a partner on it. All the research shows that rare disease patients suffer from intense isolation and crave the opportunity to speak to fellow patients and share their stories. I’m so impressed by the work of Eurordis: they live for their patient groups.

If you have any any questions on the Rare Disease Communities project, Rob says he’d be more than happy to receive your emails at: robert.pleticha@eurordis.org