I'm Alfonso Aguarón and I welcome you to my blog. Inspired by my own diagnosis of a Hodgkin's Lymphoma in 2008 I decided to get involved in patient advocacy.
A few years later, I keep commited to my desire of help and support patients. There's still a lot to do so, do we look for change in healthcare together? Let's go!
Thursday, April 9, 2015
Most of these diseases are well known by the scientific community and there are lots of experts and many ongoing clinical trials aiming to get either a cure, either a proper management of the symptoms. Even a society used to ask for healthy and productive individuals knows, to some extent, about them and is usually aware of the constraints that patients may experience. But, what happens when some of this diseases are not only invisible to the eyes of society but also to the vast majority of the healthcare professionals and the pharmaceutical industry even when scientific evidence has already proved their existence?
In this regard, on the one hand, we refer to rare diseases, which are those with a low incidence, affecting a small number of patients. According to the European Organisation for Rare Diseases (EURORDIS), there are more than 6.000 rare diseases which have been recognised by the scientific community. Almost 245.000 people in Europe has been diagnosed a rare disease, which represents around 1% of the population. 80% of rare diseases have a genetic origin and they are often chronical or life-threatening conditions. Given its nature, research on this field is more limited compared to other diseases with a higher prevalence. Ongoing clinical trials are usually based on the hypothesis that an orphan drug might proportion a therapeutic benefit for the patient. While recognising that the investment from pharmaceutical industry in this field could clearly be improved, ad hoc joint working groups have been settled with research centers and patient organisations such as NORD in the U.S. and EURORIS in Europe in order to achieve significant results in this area. This underlines the importance of strong and empowered patient networks to advocate and raise awareness about these diseases which affect a large number of people. However, there’s still a long way to go in order to get optimal results.
WHICH DISEASES ARE CONSIDERED RARE?
Affect 1 in 2.000 people
Affect less than 200.000 people
Affect less than 50.000 people
Affect less than 1.000 people
But this problem doesn’t affect only rare diseases. I’d like to mention here the concept of “emerging diseases”, not in its classic sense but to refer to those diseases which have been recently discovered based on scientific evidence, but which are not generally well known and managed by most of the healthcare professionals, research centers and the pharmaceutical industry. Diseases such as porphyrias, chronic fatigue syndrome (also known as myalgic encephalomyelitis and systemic exertion intolerance disease), Lyme disease or post-traumatic stress disorder, to name a few of them. The research on these diseases is limited to a reduced number of specialized research centers, the investment in research is very low and infradiagnosis due to the lack of training and awareness of non-expert clinicians is too frequent. Symptomatology is usually attributed psychosomatic disorders, hypochondria, anxiety, depression or psychiatric conditions. At this point the disease goes beyond invisibility, causing late diagnosis which can extend for months an even years and tens of visits to the doctor and referrals resulting in a tremendous impact on the integrity of the patients and their environment, not only in the physical dimension but also in the emotional, social, work and economic sphere.
What is the solution? When almost EVERYTHING remains to be done, the main driver of change is the patient and their environment. It is an arduous task along with the limitations of the disease itself. In my particular opinion, research investment, political pressure and recognition of the disease should be led by patients. Partnerships with the main experts should be established in a horizontal and direct way, without restrictions, in order to discover treatments, provide a proper support to patients and, ultimately, make the disease history. The efforts made to change the life of a single patient living with a disease that goes beyond invisibility is always worth. Because every patient is a real person. And it is our responsibility as advocates to make visible the invisible.
 American With Disabilities: 2002, Household Economic Studies - Current Population Reports, Erika Steinmetz, U.S. Department of Commerce, Economics and Statistics. U.S. Census Bureau https://www.census.gov/prod/2006pubs/p70-107.pdf
 About Rare Diseases - European Organisation for Rare Diseases (EURORDIS) http://www.eurordis.org/about-rare-diseases
 Drugs that are not developed by the pharmaceutical industry for economic reasons but which respond to public health need. – Definition from Orphanet