Rare Disease Advocacy: The Case For Early Intervention
As parents we all want the best of everything for our children. The best opportunities for education, happiness, and of course, health. But what do you do when you have a child born with a rare genetic disease with no clinical pathway for determining when to start medical treatment and intervention? You step in as an advocate to push for the best outcome. Below is my personal story of advocating for early intervention for my child born with a rare genetic disease.
Early intervention is the best way to approach any medical issue. Why wait until things become unmanageable before initiating treatment or an approach to care?
When my husband and I first discovered our youngest child, Eli (7-years-old ), was born with Type 1 Gaucher Disease, we had already invested several years of thought and research into what the disease would mean to him and our family. My two daughters, 13 and 9, provided my husband and I with the first inclination of what to expect when we discovered both were carriers of a single mutation for Type 1. Through the years we learned and devoured as much as we could about the disease and its clinical progression. Moreover, we attended patient meetings and met several adults who spent the better part of their childhood on crutches or in a hospital bed. These learning experiences shaped our role as an advocate for our son and our desire to intervene early with treatment.
Eli has now been on ERT ( Cerezyme) for two-and-a-half years. Getting him on treatment proved to be a bit challenging because there was no set determination or guidelines to follow for starting treatment. Although his liver and spleen were enlarged (hallmarks of disease progression), and his hematology results were unimpressive, I consulted with several Gaucher disease experts around the world and each one had a different opinion on when to start ERT. One doctor suggested waiting until he started breaking bones and experiencing nose bleeds, and then the other extreme couldn’t believe that he still was not on treatment. Moreover, several doctors emphasized that Eli had only a “mild” mutation and could live a fairly normal life forgoing treatment well into his 7th or 8th decade of life. I questioned the term mild because this is a disease that presents with a spectrum of symptoms; what may be mild in one person may be severe in another ⏤ to withhold or delay treatment based on a genetic mutation would not serve to benefit him as a young person through many decades of life. I felt this protocol was a blind spot in rationalizing the need for treatment.
It was reassuring to have someone in our corner backing up our desire and commitment to the belief that early intervention would be the greatest advantage to thwart any negative outcomes associated with the disease.
After reading many research papers, weighing medical opinions, and speaking with now-teen and adult patients who spent the better part of their childhood in and out of hospitals, my husband and I determined that Eli would need to begin ERT as soon as possible to provide the best outcome for him and his long-term health. Although he had been seen by different doctors, including regular visits with his pediatrician, Eli’s metabolic storage disorder doctor is the one who stepped in and said “let’s start him now.” It was after providing and presenting research and data to influence and shape the doctor’s opinion of how other physicians treat Gaucher disease that helped to support the dialogue of deploying treatment. It was reassuring to have someone in our corner backing up our desire and commitment to the belief that early intervention would be the greatest advantage to thwart any negative outcomes associated with the disease.
We felt that the best outcome for our child would be to start treatment to disrupt the effects and progression of disease manifestations at the earliest point possible.
Our message is simple ⏤ early intervention is the best way to approach any medical issue. Why wait until things become unmanageable before initiating treatment or an approach to care? Much like how a vaccine can prevent disease or long-term health problems in a child, my husband and I viewed the treatment for Gaucher’s the same way ⏤ step in early. We felt that the best outcome for our child would be to start treatment to disrupt the effects and progression of disease manifestations at the earliest point possible. While ERT does not build immunity like a vaccine, it does provide for the benefit of protection against the potential medical consequences of Gaucher’s.
Today, Eli is totally healthy and super energetic, and participates in mixed martial arts, football, baseball and tennis. He is a positive, happy child, and is growing without any skeletal disorders, and with a normal sized liver and spleen. If we did not step in, or push for treatment, we are not sure of where he would be today. Initiating treatment early is giving Eli the very best opportunities in life.