We Believe In Research, We Believe In Hope

Submitted January 14, 2018 by Kyle Herschelman

Research is huge in the rare disease community. Of course, I mean the search for cures, treatments, new methods and new technologies to treat those who are affected by these often unknown killers, but I also mean research by those who are affected by the diseases the most. When my wife Mary and I first found out that our daughter Grace had this strange new genetic disorder called “infantile neuroaxonal dystrophy” the first thing we did was try to find out as much about it as possible.

At the time, the research we were doing was the only research that we knew of, but soon we learned that there was a gene therapy study going on in the United Kingdom under Dr. Manju Kurian of University College London. We also found out that the project was funded in large part through the efforts of one family, the Phillips, whose son Jake battling INAD like our Grace was.

We were able to connect with Kristin Phillips through the NBIA Research Group at Oregon Health and Science University and she let us know that another study was on the horizon, this one closer to home. In our area, about an hour north of St. Louis, MO, in Hillsboro, IL, the Washington University School of Medicine is not only well known, but well respected. The fact that this new study would take place at Wash U was inspiring to us and we immediately began figuring out ways to support it.

The study itself is well beyond my expertise, but here’s what I can tell you. Dr. Paul Kotzbauer and his team are looking for ways to improve enzyme function in the PLA2G6 gene, which is the gene responsible for INAD. Grace received two mutated copies of the gene from Mary and I, which explains why she has the disease, but it is recessive in us since we received at least one good copy from our parents.

The goal of Dr. Kotzbauer’s study is to screen already existing drugs and new chemical compounds to see if any of these can help the PLA2G6 enzyme function better or can stimulate other enzymes to compensate for what the PLA2G6 gene lacks. A little lost? So were we, but we knew that basically, Dr. Kotzbauer and his team were looking for a way to treat this defective gene.

That was in 2015. Two years later, INAD families have raised more than $300,000 for the study, with our family raising $100,000 for the cause. Almost all for the money we have raised has been from families just like our own, who have given small amounts just to be a part of what we have dubbed our “Grace-Filled Journey”. I’ll talk more about some of the ways our community has helped fund this study in the future, but the important thing to note is that none of this funding would be possible without the INAD families and their dedication to finding something to help their children.

When we started thinking about fundraising, there wasn’t really a way to connect with families and join together for this common cause. We had the support group, but not all families are in the same situation and some efforts are more focused toward getting their kiddos the best care possible. We are very fortunate that Mary and I have insurance and loved ones who can help us out with the costs, but we know that this isn’t the case for everyone.

For those who did want to help raise money to find a cure, the lack of a not-for-profit focusing on INAD research was often a stumbling block. Now, the INADCure Foundation has helped fill that void in a big way. Just a few short months since it was organized, families have already made a big impact on the future of INAD research as the INADCure Foundation has made a $150,000 grant to help Dr. Kotzbauer continue and expand his research, with a commitment to another $200,000 in the future.

This funding will help Dr. Kotzbauer and his team continue his current strategies looking for treatments, but it will also add a gene therapy aspect to the study. With gene therapy, the goal isn’t to treat the disease. The goal is to cure it.

With significant progress going on in regards to vival vectors and how they deliver genes to the brain, Dr. Kotzbauer will be collaborating with Dr. Mark Sands, an expert in gene therapy at Washington University, to see if it is possible to safely deliver PLA2G6 gene therapy. The team will also be testing an enzyme replacement strategy to deliver the missing PLA2G6 protein to the brain, which could be used with gene therapy or by itself for treatment of INAD.

All of this is exciting. A little over my head, but exciting. Ultimately, if Dr. Kotzbauer and his team are successful, it means that INAD would no longer be a death sentence. No longer would parents have to watch their child’s skills diminish or hear that most children with INAD don’t live much past their eighth birthday. It means hope.

That is why we support Dr. Kotzbauer’s study and the INADCure Foundation’s efforts. Recently we sent a check for $55,000 to the INADCure Foundation, the majority of which came from a 5K run and walk that we held in Hillsboro and across the globe thanks to a virtual option. More than 500 people came to this community of 6,000 in support of Grace and the fight against INAD. Among them, Dr. Paul Kotzbauer and several members of his team, who made the trip from St. Louis to witness first hand what families and friends can do to find a cure. He and his team are believers in the power of INAD families. And we believe that Dr. Kotzbauer’s research can find a cure for our kids.