This is NSGC 2019 Conference Highlights Part 2, click here for part 1.
An early morning session on the final day of the conference featured a personal story shared by Amanda Schlemme, whose son is affected by spinal muscular atrophy.
SMA exists on a spectrum – some people do not experience onset until later in life, while some expectant mothers have felt potential effects of SMA on their babies during their pregnancy (decreased movement in utero). There used to be very little that could be done for people living with SMA, but there are now two FDA approved treatments.
Colin Schlemme appeared to be completely healthy when he was born, but raised concerns when he did not begin to crawl. He began to miss milestone after milestone. His parents brought him to the pediatrician. They hoped he was just a little behind developmentally and would catch up. In 2010, at a year old, Colin was diagnosed with SMA. His parents were told there were no cures and no treatments. At age two, Colin got his first wheelchair.
In 2016 Spinraza was approved by the FDA. It took about 6 months for Colin to begin treatment. His mother said they knew he wouldn’t gain all abilities back, but they saw some improvement that has had an impact on his quality of life.
“If Colin had been diagnosed before he had symptoms, as a baby, his life would be so different.”- Amanda Schlemme
Early diagnosis results in better outcomes in SMA. Colin Schlemme’s mother doesn’t wish she knew he would have SMA before his birth, but only because there was no treatment at the time. If she were pregnant now, she is certain she would want a prenatal diagnosis and counseling so that her child could begin treatment immediately.
As the conference began to come to a close, Sonia Vallabh JD, PhD, presented her family’s experience with prion disease and initiatives to develop drugs for the condition with the Broad Institute.
When Sonia’s mother was diagnosed, the family realized they didn’t have the resources they would have hoped for.
“We learned we couldn’t rely on the medical system… it was too rare… we need to be the people who are watching and learning about new treatments. The more we learned, the more we could build context for our new life.”-Sonia Vallabh JD, PhD
Sonia was found to carry the same genetic mutation that caused the fatal prion disease in her mother. The disease strikes unpredictably in adulthood and leads to death less than a year after onset. Sonia explained the mechanism of the disease, the potential avenue for therapeutics, and the roadblocks.
“There is a domino effect of misfolded proteins grabbing normal ones and causing them to be misfolded, and it cascades through the brain killing neurons. From many different lines of evidence, we know we can be healthy with less of this protein. If you don’t have the protein, it can’t be misfolded, you can’t get sick. The protein is essential for disease, but the gene and protein are inessential for a healthy life. We have our drug target.”- Sonia Vallabh
Sonia addressed the challenge of reaching patients in time to make a difference by identifying those at risk and taking preventative measures while they are still healthy.
“There was no moment that is was clear there was something badly wrong, still with good quality of life. We need to leverage our head start to prevent, not just treat, disease. We need to know who will get sick, and estimate when they might get sick. We’ve seen patients as young as 12 with symptoms, and also an 89 year old who hasn’t yet developed disease. If our goal is the treat healthy people and keep them healthy, we need to totally rethink our testing- we need a biomarker that will show us if we are being successful. This isn’t how insurance companies usually operate, but we need to convince them to pay for a potentially expensive drug for healthy people to keep them healthy. We have to move that direction.”-Sonia Vallabh
Sonia advocates for primary prevention based on genetic risk, stating,
“There is no sign of prodromal neuronal damage in carriers before onset of clinical symptoms in prion disease, unlike Huntington disease and Alzheimer’s. We have the opportunity to keep people healthy, if we can reach them.” – Sonia Vallabh
Sonia discussed a positive response they received from the FDA- which reflected an understanding that “the biology of this disease is screaming for prevention” but also acknowledged the variability within the personal preferences and decisions of at risk individuals. 75% of at risk individuals chose not to get tested. Sonia also acknowledged that there are people who are
“waiting in the wings… weighing their options… we are trying to make connections with them and explain what we are trying to do. “
“The question is, what are you waiting for? Are you waiting for an approved drug on the shelf? That makes it very hard, a chicken and egg situation, to get people to participate in a clinical trial. But maybe you are waiting for a well-organized thoughtful clinical trial with a lot of evidence behind it. And that is what we are trying to do.”-Sonia Vallabh
Sonia stressed the importance and value of participation and patient engagement in the development of new therapies -particularly in the rare disease space.
”We hear people say clinical trials are for the next generation… I don’t think that is true anymore. The most important thing I try to keep in mind is to convey what engagement does in a rare disease to power the machine forward. Patients need to be saying what the drug needs to do at the end of the day- what is a meaningful outcome. We need their voices.”-Sonia Vallabh
Prion disease is responsible for 1 in 10,000 deaths, but 85% of those cases are sporadic. 15% has a genetic inherited cause.
“We are not an N of 1, we are enough people to make this viable. There are maybe 200 people at risk in the registry, but there are probably a few thousand at risk in the US.” – Sonia Vallabh
Sonia is in unique position in her research, as someone who inherited the mutated gene for the disease.
“What do I want for my own brain, what do I want for my family? It brings a different lens to what success means.”
“If we all say, ‘there is nothing I can do’, nothing will get done. Our challenge is to convey the right amount of hope in this moment where technology is so powerful. Not irresponsibly much, but also not irresponsibly little.”-Sonia Vallabh
The NSGC 2019 Conference resonated with not only hope, but motivation for improvement – from research breakthroughs to deliberate efforts to better communication, cultural competency, inclusivity, as well as the mitigation of unconscious bias. The work of genetic counselors is so clearly based in science but executed with heart. For more information about genetic counseling, the services that are offered, or to find a genetic counselor, go to http://aboutgeneticcounselors.com/.
