7 posts from February, 2010

It’s Rare Disease Day!
Interview with Gracie (Devic’s NMO Patient)

Posted February 28th, 2010 by

Today, we’re joining the National Organization for Rare Disopicture-12rders (NORD) to help raise awareness for Rare Disease Day.  In recognition of the day, we recently interviewed Gracie, a valued member of our Devic’s Neuromyelitis Optica (NMO) community.

Devic’s NMO is a rare autoimmune inflammatory disorder which affects the optic nerve and spinal cord and is often confused with Multiple Sclerosis (MS).  Compared with MS, Devic’s brain lesions affect different parts of the nerve cell, spinal lesions are larger, and relapses occur in a different pattern.

Here’s what Gracie had to say to our community moderator, Aaron Fleishman:

apics2 (Aaron) When were you diagnosed with Devic’s NMO?  What was that like?
27744 (Gracie) In the spring of 2005, after a few months time of being hospitalized and misdiagnosed and doing a stint in rehab, I was definitively diagnosed with NMO via the Mayo clinic’s NMO IgG test.  Fortunately (or unfortunately, depending on one’s viewpoint), I was already fully aware of the implications of having the disease.  During the period of time that I was in rehab, I used their computers to research Idiopathic Transverse Myelitis, which is what I was originally diagnosed with.  While reading at the site of one of the more prominent U.S. teaching and researching facilities, I came across NMO.  I can vividly remember saying to myself: Thank God that I don’t have that.  It could have been so much worse.  I felt extremely thankful to have dodged that particular bullet.Less than two months later, I was back in the hospital with another acute attack.  This time, the paralysis had spread to mid chest, and I knew then that it was unlikely to be Idiopathic Transverse Myelitis.  While in rehab, my physician had told me that most cases of TM were monophasic, and that the best thing that I could do for myself would be to learn to cope with my deficits and move on.  During the second long hospitalization, I did not respond to IV SoluMedrol, so underwent a course of rescue plasmapheresis.  It was at that time that my current neuro submitted my serum to the Mayo Clinic for the NMO IgG test.  Actually, in my heart of hearts I already knew what the result would be.  It came back positive.   What was it like?  It was like being hit in the chest with a sledgehammer.
apics2 (Aaron) You’re one of the founding members of our Devic’s community, and a 3-star contributor.  How has being a member of PatientsLikeMe helped you?
27744 (Gracie) PatientsLikeMe is a unique site.  The singular most important function is the data sharing.  Researchers, studies, and clinical trials inform us as to how a particular drug or treatment will theoretically affect the disease process.  PatientsLikeMe offers the opportunity for patients to see how a particular treatment or medication works in the patient community, without the controls and structures of a clinical study.  I have not found another site on the Web, that has the graphing capabilities that PatientsLikeMe offers.  Most sites, including my own, are Forums, but offer no capabilities beyond that format.  I was thrilled whenever Paul Wicks gave me the news that NMO would be included among the [PatientsLikeMe] communities.
apics2 (Aaron) Today is Rare Disease Day.  Do you have a message for people with Devic’s (or those with other rare life-changing conditions)?
27744 (Gracie) The most important thing that an individual diagnosed with Devic’s NMO can do for themselve, is to seek out a neurologist who is not only familiar with the disease, but has treated cases as well.  Although it is being diagnosed more frequently with the advent of better clinical imaging and the Mayo Clinic’s NMO IgG test, it is still extremely rare and the majority of neurologists have not seen or treated a case.  I’m one of the lucky ones.  I was diagnosed at a large teaching and research facility and have an excellent neurologist.  Many patients are not so lucky.
apics2 (Aaron) Have you heard of the Accelerated Cure Project Repository? What does it mean for people with Devic’s? 
27744 (Gracie) The Accelerated Cure Project is an amazing organization.  Currently they are working in tandem with the Guthy-Jackson Charitable Foundation and are compiling an NMO data and samples repository.  They have done everything possible to facilitate the process, including sending a traveling nurse to the home of the patient to procure the samples.  Although I have not participated yet, I fully plan to.  Without data and samples, there can be no research and without research, there can be no progress.  The majority of us within the NMO community are willing to do anything that we can to facilitate research.  I’m so thankful for the effort of the Accelerated Cure Project.
apics2 (Aaron) We’re thankful too, Gracie.  And we’re thankful for all that you share every day with patients like you.

To learn more about the rare disease communities on PatientsLikeMe, including Devic’s, Progressive Supranuclear Palsy (PSP) and Multiple System Atrophy (MSA), please visit www.patientslikeme.com.

Where are the Cures?
An interview with Myelin Repair Foundation

Posted February 24th, 2010 by

PatientsLikeMe partner, Myelin Repair Foundation (MRF), is a nonprofit organization devoted to reducing the time it takes to discover and develop treatments for multiple sclerosis (MS) patients.  Recently, the MRF launched a campaign called “Where are the Cures?” – a site dedicated to a greater understanding of the barriers slowing the discovery and development of new patient treatments in all diseases.  PatientsLikeMe co-founder Jamie Heywood asked Scott Johnson, President and Founder of MRF, about the campaign.

headshot (Jamie) What’s the big idea behind Where are the Cures?
picture-097 (Scott) The big idea? Finding a way or ways to accelerate the development of new patient treatments.Developing new medicines or treatments for complex diseases is extraordinarily difficult. But it is not impossible and it should be happening at a faster rate than it has been. I believe the single most rate-limiting factor is the failure to move promising scientific discoveries made in academic laboratories into the commercial development pipeline.The problem is fairly simple. On the front end of the value chain, academic laboratories are spending upwards of $40 billion a year in government and non-profit dollars to make basic scientific discoveries that may be potential drug targets. On the back end, the pharma industry is facing a crisis of grand proportion as a result of its dwindling pipeline. The obvious question is why isn’t pharma reaching into this vast pool of potential drug targets to fill their pipeline? Because between the two is what is known in the industry as the Valley of Death.I think two things primarily contribute to this disconnect. First, most biological discoveries made in academic labs are not patented. Without the clear ownership that patent protection provides, biopharma is unwilling to make a multimillion investment in drug development. Second, there is little to no funding available to conduct the validation studies necessary to fully demonstrate that the basic scientific discoveries made in academic laboratories will truly and safely impact the disease state in humans. Without this validation, again, the perceived risk to pharma is too high.Knowing this, it’s shouldn’t be surprising that so few treatments for difficult diseases are coming to market.So how do we capitalize on the promising discoveries made in universities and feed that pipeline? We address those two problems: protecting the IP and funding validation studies.We are doing this at the Myelin Repair Foundation and it can be done in other medical research. But it requires an open mind and a set of shared incentives that puts the patients’ needs before other current incentives.
headshot (Jamie) As a part of the campaign, you launched The Patient’s Manifesto, a declaration that the medical research system is broken and a call for massive change across industries.  Why should a patient with life-changing condition sign it?
picture-097 (Scott) We created the manifesto because we wanted to bring attention to the problem and provide a venue where new ideas would be talked about. There is a lot of innovation going on in the industry but we have to find ways of sharing it. Why should patients sign the manifesto and encourage others to do the same? On the premise that the squeaky wheel gets oiled first, we think that we will be more successful at bringing public attention to this problem if there appears to be a significant groundswell of people who care. The millions of patients and their families living with chronic diseases are the most motivated to create change. There is no implied promise here. It’s all about building awareness and attracting attention in a way that will spur change.
headshot (Jamie) Both our organizations work to help let the patient voice be heard.  What do you think a patient’s role is in making our research system more efficient?

picture-097 (Scott) I think the entities that are best positioned to tackle the Valley of Death are the non-profit disease research foundations like the MRF. Their only motivation is improving the quality of life for patients. Because we are not driven by academia’s need to “publish or perish” or by pharma’s need to increase shareholder value, we have the freedom to move among and between the players in the value chain and facilitate the process on behalf of patients.  It is largely patients and their families who support these non-profit organizations and for their investments they have a right to ask for accountability. While investing in basic research is an absolutely essential part of the equation, it takes more than that to get a drug to market. Patients should be asking the organizations they support how they plan to actually accomplish that once the basic science is completed. I think as patients, we understand that this isn’t easy. But we don’t have to sit back and be satisfied with the status quo.
headshot (Jamie) No we don’t, Scott.  Thanks for talking with us about the campaign.  For those of you wondering, yes I’ve signed The Patient Manifesto.  Have you?  Go to www.wherearethecures.org for more information.