Tuesday, January 20, 2015

The Treating Achondroplasia Blog: Third Year Online

The blog is reaching three years this January. When I started it, the plan was to review the biology of achondroplasia and point out the potential therapies that were being explored so far. There is a significant number of researchers around the world reviewing this skeletal dysplasia, with brilliant reviews being published every year in the specialized literature and I had no intention to just reproduce their work, since I was not involved in the basic research of achondroplasia, and I didn't share their clinical expertise.

A personal point-of-view

As a practicing physician, I have been seeing patients for almost 30 years and I truly believe in the doctor-patient relationship as a tool for better care. I also believe that the more you know about a problem the better (or smarter, or stronger) you could fight it (yes, there are exceptions). For me, just making the right diagnosis and prescribing the right treatment has never been enough.

One major challenge for doctors is to make sure their patients with chronic conditions, such as diabetes, hypertension, asthma, will take the treatment correctly in the long term, what we call adherence to therapy. Current medicines to treat these chronic conditions are highly effective but don't grant the cure, the therapy must be continuous in many cases.

So, over the years, believing that more knowledge about their diseases could help patients to better manage their treatments, I have been inserting pieces of biology, pathophysiology, pharmacology, during the appointments. I use illustrations, plastic models reproducing the anatomy, sponges to show what's going on with the patient. Understanding the problem might help him or her to really engage in the therapy for their own good. I learned that in many cases this turns to be true and I feel happy about it.

Why the blog ?

What does this all have with achondroplasia? When I started to study achondroplasia almost seven years ago, I soon realized that the language in the scientific texts was complex and I thought on the patients in my office. Since my interest in achondroplasia went beyond the professional field I thought what I could do to share the knowledge I was gaining to those I wanted to help? The explanations needed to be in the real world language. And that's how the first texts started, like the one I shared in an old achondroplasia mail list back in 2010.

The blog started as an extension to that thought. I couldn't just keep the knowledge accumulated hidden. FGFR3, growth plate, chondrocyte, CNP, enzymes, quinase, mutation, etc. how to put all that information in a way that those not "initiated" could make sense of them? It was 2012 and after meeting Carmen Alonso, from Fundación Alpe, and the Haiders, from the Growing Stronger initiative, I saw how I could do it and I decided to start the blog.

That's it. The blog tries to bring together information split across the published studies in a more simplified way, using images or illustrations of the real world to help interested readers to understand the science of achondroplasia. 

The blog has reached 81000 visits from more than 120 countries. I thank you for your interest in the topics discussed here and I hope the blog has been useful for you.

Nothing to do, a lot to do

Another aspect of being a doctor, is that it is hard to not having a solution for a patient, to being impotent in face of a diagnosis. This translates in the blog's content in the form of a looking forward perspective. 

Currently, there is no established therapy for achondroplasia, although there are many in several levels of development, from a spark in the mind, an idea, a patented compound, to the first one already in clinical trial. The blog explores,without prejudice, all potential therapies disclosed in the literature, trying to give a balanced view of them. 

There was a time when people with growth disorders were hardly recognized in society as human beings, when social rights were a fantasy, and strong associations were built to fight for them, such as LPA and Fundación Alpe. We have witnessing triumphs and victories although much is still to be done.

Nevertheless, now people who are affected by growth conditions or simply involved are observing the dawn of a new era when solutions are coming to treat many growth disorders, including achondroplasia. This will need a smart change of mindsets for the community leaders and stakeholders, who will need to start thinking not only in the living but also in the new generations coming.

So, there is a lot to do. From learning more about the genetic condition to how the research is carried out, the economics, the caveats and challenges. There are more than seven thousand rare diseases described, most of them affecting very few people, the majority children. Alone, they have poor strength to fight. Together, however, the rare disease community reaches the millions. Together, solutions will come faster.

As Goethe said:

"Knowing is not enough; we must apply. Willing is not enough; we must do."

What can we do to increase the research towards solutions for achondroplasia and the thousands of rare conditions? How can we convince investors and payers that working to improve the quality of life of people with rare conditions will also improve the quality of life of the society as a whole?

There are many initiatives ongoing. What about having a more active role in the transformation of our society? You can become part of the solution (s). That's why initiatives such as of the Rare Disease Day are so important. 

A happy 2015 for you!

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