Friday, March 25, 2016

Classroom Lessons In Life

Although this blog is a little belated, this month, Kyle and I went back to school at Washington University in St. Louis. But fortunately for us, we were on the other side of the studying part!

Shortly after Grace was diagnosed in November of 2014, her geneticist, Dr. Beth Kozel, asked if we would come and speak at a lecture she was giving to first year medical students at Washington University. The lecture was on the use of the whole exome sequencing test, which was the one used to determine that Grace had INAD.

When she first asked us, she wrote, "To become good doctors, students need to learn how to approach conversations like this, and having insight from a family like yours would be wonderful." We were extremely humbled, and anxious to share our story.  

I keep in touch with Dr. Kozel from time to time by e-mail, and she is now working in Washington D.C. with the National Institute of Health. She's been a really great resource to our family, and even keeps her gracelet in her new office.

Over the winter, she e-mailed and said that even though she was out of the area, she would be coming back to St. Louis to give the lecture on the whole exome sequencing test, and asked if we would be willing to speak again.  It took us about two seconds to say we would be honored to come back.

Selfie at Wash U after we spoke during the lecture.
This year's lecture fell on Tuesday, March 15, which just happened to also be primary election day in Illinois.  We got up bright and early to be there for the 8:30 a.m. lecture, although we didn't arrive until closer to the time we had to speak at 9:30.  There were probably almost twice as many students there this year than last year, and it's a lecture that Kyle and I always enjoy learning more about.

Dr. Kozel talks about how families end up in the situation where this test is used, but also talks about the ethics of genetic testing, and how as science and technology advance, it also increases the need for ethical discussions of how it is used.

In our particular case, the test looked at all 20,000 of Grace's genes (and ours too), to determine that both Kyle and I had passed on a mutated copy of the gene, PLA2G6, which causes INAD.  It's never easy to sit in a doctor's office while they tell you your child is dying, and there's not anything you or anyone else can do to stop it. However, as hard as that day was, I will always remember the compassion Dr. Kozel showed us, and that she told us there would always be hope.

Kyle and I enjoy being part of her lecture because it gives us a chance to talk about our experiences and encourage future doctors to have that same compassion and kind bedside manner. To some, Grace may be patient XYZ, but she's our whole world.  

After we talked for 20 minutes or so, we had a chance to answer student questions, and talk a little bit about our fundraising efforts for the research study, which also happens to be right there at Washington University.  When the students were dismissed, we had several stop by to talk to us and thank us for coming and sharing our story. Kyle and I both really feel that it's our honor to be asked, and we are so grateful for the opportunity.  

We forgot to take a photo of Dr. Kotzbauer with his plates, but Grace was pretty excited about them.
We had one more stop to make before heading for home.  As part of the special license plate fundraiser, Kyle and I ordered a set for Dr. Kotzbauer, who is leading the research for treatments for INAD.  Since he lives in Missouri, he can't actually put them on his car, but he was delighted to have them, and said he would proudly display them in his office.

He gave us a brief update on the study, which continues to make progress and is nearing its one-year anniversary.  It seems so hard to believe it's been nearly a year since I collected all the money we had raised to that point and sent $8,000. Now, we have raised over $100,000, and are pleased to be able to continue our efforts to #beatINAD.

We have been given so many amazing opportunities on this "Grace-Filled Journey," and we are so grateful to Dr. Kozel and her students for letting us share our story. We know you will all be great doctors someday.


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