Sunday, February 22, 2015

A Not-So Chance Encounter

As we walked through the halls of one of the research buildings at Washington University on Friday, Kyle and I couldn't help but be a little overwhelmed.  Partly, because we were sort of lost in the building, and partly because we had a chance to meet the man that just might change our daughter's life.

Dr. Paul Kotzbauer has just begun a research study on treatment options for INAD kids, funded directly by families affected by this disease.

Once we found the right floor, Dr. Kotzbauer met us in the hallway and led us to a conference room, where we sat down to talk.  I was so nervous that I had trouble even picking a chair to sit in.  But he was very kind, and it was an awesome visit.

Of the approximately 25 INAD families worldwide, we feel very fortunate to live extremely close to Washington University, only about an hour's drive from our home.  In correspondence by e-mail with Dr. Kotzbauer, he expressed an interest to meet with us if we were ever in town.  All of Grace's doctors are in St. Louis, so we are there fairly routinely.  And although we didn't have Grace with us on Friday, we promised to bring her back with us for a visit soon so he could meet her as well.

As we sat down to talk, he asked us a bit about Grace, and we shared our story.  I think I've told it so many times now, I sound like a broken record.  However, he was very interested in all that we had to share.

Then we had a chance to ask some questions too.  My first question was how he ended up studying INAD, such a rare disease that affects so few children.  He told us his story and his history, which was very fascinating. He graduated from Washington University and is both a clinical neurologist (who cares for older people) and a researcher.  That was his goal all along to merge both things into his career.

Dr. Kotzbauer told us that he has always been intrigued by neuromuscular diseases, in particular Parkinson's. His studies with Parkinson's eventually led him to work with Neurodegeneration with Brain Iron Accumulation (NBIA) and Dr. Susan Hayflick.  Eventually, his studies led him to INAD.

After he completed a fellowship at the University of Pennsylvania, he returned as a faculty member at Washington University, where a couple of his peers were already studying INAD and even had mouse models set up.  He explained some of the other studies he's done and why they haven't worked out.  He also shared his new proposal with us, which involves screening already approved FDA drugs and their use in the treatment of INAD symptoms. He expressed his optimism for the study as well.

As a group, the INAD families will have to raise about $150,000 over the next two years to fully fund the study.  He explained that most of the cost will be used for a post-graduate fellow's work.  I kind of chuckled and said that labor is always the most expensive part.  

But the best news was, that he told us the study could begin with a contribution of just $10,000, which our group has already surpassed.  So, as we left the conference room, he told us the study had pretty much started.  

We are so excited about the prospect of this study and what it could mean for Grace and the other INAD children.  Kyle and I are SO grateful to everyone who has already contributed to this study and helped us to get it underway.  Be on the lookout for other upcoming fundraisers, including a 5K in Hillsboro on Saturday, Sept. 5.

And for those of you who have been faithfully praying for us, please keep this study and Dr, Kotzbauer in your prayers.  We know that God has a plan for Grace's life, and we are willing to follow wherever it may lead, but this just might be that miracle we've been praying for.


1 comment:

  1. It is great to read the news and the money for Grace is in the mail. I am glad you had such a good visit with the doctor. God seems to be listening to our prayers. I look forward to updates.