How does one find a metaphor to reflect on a lifetime of challenges? There’s always the journey metaphor – rough roads, wrong turns, no sign posts… but at my age my metaphors have gone the way of my mojo!
My son is now 27yrs old. Our lives, inextricably linked, have been challenging. He responded poorly to steroids and has recurring gastric troubles and pressure points. But due to an excellent Physiotherapist and scholar, Helen Posselt, Doug avoided spinal surgery despite losing ambulation at 9yrs. Beta blockers meant his cardiomyopathy improved 30%. He has adapted well to non-invasive sip ventilation but he is starting to have difficulty eating enough food. Socially, two loving, larrikin brothers and his peer group mean the world to him. He finished an arts degree and now writes plays, performs, works 8 hours a week in a rehab shop and officiates the odd civil wedding. Doug never shares his regret for another life, for our sakes. This ubiquitous sacrifice makes our children far stronger than we give them credit for.
The availability of more interventions will make your son’s future brighter than the lives bequeathed to us. While hundreds of men live beyond 40 in Europe and the USA, we can’t deny that younger boys lose their battle. Why disparity within a single health system? What is the role of quality control, genetics and lifestyle? Intervention is crucial and many countries lack basic intervention services. Following consensus care guidelines, is still our best shot. Our national conferences and seminars featuring international experts have disseminated best practices – extending lives with quality. Mentally, so many pioneers seem to keep positive by following passions, helping others and looking outside of themselves. Parents too!
Research is slow. Less than 5% of cures in the mouse ever translated to humans. This is important to understand, or you will forever be on that roller coaster of false hope. Media hype, money, ambition, politics and desperation cloud matters further. Our children are patients who are fading – this is not exceptional but the rare disease label stupefies everyone it seems. If evidence is the key, trial design and outcome measures are failing to provide the necessary certainty. Ironically regulators doubt data which does seem to show promise. But in the absence of risk for such a catastrophic disorder, safety having been established, conditional approval and obligatory surveillance may be the only way to show the full effect of orphan drugs for current and future generations.
You are not smart enough, rich enough, powerful enough. Advocacy is one of the hardest challenges. Like you, we beat our breasts supporting research, pushing for innovative care and equitable government policies nationally and internationally. We were altruists because clinical trials were a distant dream. Today, with tantalizing therapies for sub-groups of patients, research can be about today’s patient. You are presented with a new challenge – access. Where do we live to obtain these orphan drugs? How do we persuade ‘Big Pharma’ to market in our country? How can we persuade the regulators to use more compassionate criteria to approve drugs? How do we afford them? How can we predict the right treatment, excluding others, if benefit is not immediately obvious? So many contradictions – but seeking equity not only across disorders but also across national borders, will fuel the treatment revolution as surely as international collaboration and education spread the revolution in care.
Across all these challenges, global cooperation will continue to be our salvation. Our inaugural World Duchenne Awareness Day in 2014, symbolized our commitment to our children and to each other. Unconditional assurance seems to stem from parental love but we cannot underestimate the love of each young man for his family; emboldening us against anxiety and anticipatory loss. United, our collective challenges can only be fought with genuine kindness and a boundless love for our fellow man. Giving freely of our skills, resources and understanding resonates across generations, across geographical borders before returning to us and to our children. This philanthropic vision was the catalyst for the genetic revolution unfolding today. There is much left for us to do, guided by our dynamic mentors in UPPMD, because few other collectives understand every challenge, critically discerning and lighting our way. Pioneers and their parents, medicos and their patients, industry and investigators must understand that I owe my son’s breath, heartbeat and happiness to the best of you – to the collaboration that underpins our Parent Project network.
(Bio: In 2003, inspired by the growing number of national charities emulating the Parent Project leaders making such a difference in USA, The Netherlands, Italy, UK & Germany; a small group of parents, a physiotherapist and an accountant incorporated Parent Project Australia in Cairns, Queensland. We joined the growing international UPPMD family as an associate member and renamed to Duchenne Foundation a few years later. As a volunteer, I had many overlapping roles as founding secretary, president, state director, conferences co-convenor, information and advocacy committee chair and webpage author. Our educational events and clinical advocacy has made a real difference to overall care, most notably international respiratory and therapy interventions. Our government now oversees our national DMD registry because of our advocacy. Only last month I resigned from my board position, however please email me for any reason as I remain a passionate advocate for boys and men with Duchenne – email@example.com)