For understanding the evolution in child neurology over the past 30 years, it would make sense to start with the science, particularly genetics, that have led to treatments and even cures for numerous inherited diseases over that time. When John Bodensteiner, MD, a pillar in the field of child neurology, was asked, he started with something different.
Parent advocacy accelerates advances in rare pediatric diseases
For the progress in many of the rare diseases seen by child neurologists in the last few decades, Dr. Bodensteiner first acknowledged parent support. “The concept was simple initially. For so many of these relatively rare diseases, like the Rett and Sturge-Weber syndromes, parents were learning of them for the first time. The support groups helped parents understand they were not alone. But it then evolved,” recalled Dr. Bodensteiner, who has been a professor of pediatrics and neurology at numerous institutions, most recently the Mayo Clinic in Rochester, Minn.
Many of these support groups first formed, or at least gained momentum, in the 1990s. “As the support groups grew, the members expanded their role to support research, in addition to supporting each other. They ended up volunteering their own data, providing more information about the epidemiology and disease course. They offered tissue samples for experimental studies. They enrolled their children in trials. And they raised funds,” Dr. Bodensteiner explained.
The impact of this advocacy has been enormous, according to Dr. Bodensteiner. As an expert in neuromuscular diseases, he worked directly with several of these groups.
Dr. John Bodensteiner
Although the growth in parent advocacy took place in parallel with major advances in genetics that were driving new insights into disease pathophysiology, Dr. Bodensteiner characterized parent advocates as important partners in accelerating the transition of new information to clinical utility. He suggested that there is little doubt about the importance of their role in moving the science forward by drawing attention to rare disorders that had few, if any, treatment options at the time the advocacy groups were formed.
Since the 1990s, the list of childhood neurologic diseases for which there has been meaningful progress is long. Dr. Bodensteiner selected several examples. For Rett syndrome, key molecular mechanisms have now been isolated, providing meaningful targets that show potential for treatment. For spinal muscular atrophy (SMA), therapies have become available, one of which involves gene replacement that appears to provide cure if initiated early in life. For tuberous sclerosis complex (TSC), gene targets are showing strong promise for controlling seizures and other TSC manifestations.
It has also to be acknowledged that much of the ongoing expansion in knowledge taking place across diseases in pediatric neurology would have taken place with or without parent support. Dr. Bodensteiner singled out seizure disorders only as an illustration. “In the various forms of epilepsy, we now understand mechanisms in much greater detail than we did even a decade ago, let alone 30 years ago,” Dr. Bodensteiner said. In the context of the seizure medicines once widely employed on an empirical basis, “we now often have a clearer picture of why one drug works and not another.”