This week, we're pleased to have Pol Harvengt here to share a little about his experiences as an XLH patient, a biologist and one of the founders of the patient-support group for French-speaking XLHers. You'll note too that he was one of the named authors of the recently published article, Therapeutic Management of Hypophosphatemic Rickets From Infancy to Adulthood, which can be downloaded for free at http://www.endocrineconnections.com/content/3/1/R13.full.pdf+html.
1. How did you get involved with the XLH Network?
1. How did you get involved with the XLH Network?
When I was young, I was not at all interested in sharing my views on XLH. I had few symptoms and was in a state of denial. Time passed by, I get married and begun to discuss with my wife about founding a family. We consulted an expert geneticist in a famous hospital to get advice on disease transmission and potential severity of symptoms for the awaited child. The geneticist completely misread the literature and get us an overoptimistic picture. When my first child went to birth, we again acted proactively to get the baby blood-tested. Once more, the local padiatrician misread the reference values. Finally, the XLH diagnosis was confirmed a year later.
The lesson was clear: we needed to identify a really knowledgeable professional to help us. When we finally identified a reliable endocrinologist, my daughter was 2 and was severely bow-legged. With treatment, three years later, the leg bowing was completely gone.
This experience transformed us, and we felt it was important to share what we learned and to learn from others' experiences. I registered with the XLH Network and from that point, I've continued learning about XLH with great interest. I also realized how important and transformative it is to feel that you are not alone. Recently, I worked with a few other XLHers to found a patient group in France (the first French-speaking one ever) and we have started growing the organization. We hope that we can contribute to a global XLH community.
2. What's your "super power" -- the special skill, knowledge or experience that you bring to our community?
I am a biologist by education. I have a PhD in protein biology and I have worked in biotech research for more than 10 years. I had the opportunity to develop new research tools for a variety of human diseases (cancer, Alzheimer's) as well as new vaccines (Flu, cervical cancer). This gave me the opportunity to learn about human physiology and also to eaasily access scientific literature. Long before most XLH patient learned about new treatments (like KRN23), I had read the scientific reports describing the early discovery and development of these molecules, and even talked to some of the scientists involved in these programs. I was impressed by the kindness and desire to help shown by these brilliant minds. It is a real solace to know that people are out there looking for new ways to help us.
In our French patient organization, I serve as chairman of the Scientific Advisory Board and I am also really delighted to see how far our experts are willing to go to help. This year, our lead French expert will host the first KRN23 clinical trial in Europe, which is also the first XLH clinical trial in more than 30 years in Europe. That is a glimmer of hope and also the first tangible sign that things may change soon for XLHers. And that is probably only the beginning, since a handful of other molecules are moving closer to clinical trial stage. I am convinced we are living in a pivotal time for the disease.
3. What XLH project are you working on now that you're particularly enthusiastic about?
There is so much to do that it is difficult to select one or even a few projects. The initial priorities of the French XLH patient organization were: 1) create a flyer to help local health practitioners correctly diagnose XLH and also for patients to learn how to find experts; and 2) convince French authorities to get the main phosphate supplement back on the market after the supplier decided to stop production. We've accomplished those goals and are embarking on new projects.
Recently, we had the opportunity to participate in the writing of a scientific review of information about XLH and its treatment. It is published in an open access journal and therefore free to download here. It can help patients access information for themselves or to share with their healthcare provider. That is the kind of project that I would like to develop more in the future, and it is certainly a working model for our organization, with a tight relationship between patients, scientists and also private partners, like biotech companies. Patients should feel empowered to propose scientific projects and should feel like active participants in their health treatment.
With the advent of regional patient organizations, we have the opportunity to build a global XLH community. The language and cultural barriers could still limit the interactions a bit, so I would suggest starting from the scientific model. There is a global language for science, and recent discoveries suggest new avenues to explore and new cures to develop. We will need united efforts from scientists worldwide to succeed.
Finally, I hope that with new therapeutic options like KRN23, we will significantly improve our conditions in the near future. Then I think that we should think about how to help patients in poorer countries that are left with minimal support and treatment options. That would be a formidable challenge and also a noble cause for the global XLH community that is in the making.