June 28 – Day 16: Pigeon Forge to Crossville, Tennessee: Hilly 100

Today we put it all out on the Road to Discovery – we had nothing left after the 102-mile ride and 6,000-foot climbing. We got lucky with the weather, but the mountain we crossed in the last 20 miles was really something else. Following the forecast, we were prepared for a rainy day that never came. It was overcast all day, but luckily no downpours. Pigeon Forge and Gatlinburg are neighboring cities – we left there nice and early. The first 50 miles were smooth sailing. As for the last 20 miles – well, let’s say it took everything we had to make it over into Crossville. The majority of our ride today we were on a bike route. Mostly that meant sharing the road with the motorists (some did not appreciate that much), but for part of Highway 70 we had our own designated cycling lane. What a difference that made. We talked about how nice that would be if we had that near home and discussed the efforts of “Granger Paths” and “Bike Michiana Coalition” who are trying to get that done. We had a very scenic ride today and stopped by a large dam for some photos – a propeller display caught our eye because it was the largest propeller we’d ever seen.

How About This Propeller?

Last night when we had dinner with John and Susan, John said, “you will have a whopper of a climb into Crossville.” I think he understated the case. However, on these challenging days, we feel a real sense of accomplishment when we are finished – and we have those fantastic NPC families in our hearts and minds to help us across the tough parts.

Excuse Me, but Will These Hills Ever End?

After encountering so many aggressive dogs in the last week, today we found a friendly canine. We were pushing to get away from this hound dog when we noticed that he was wagging his tail and, in a strange way, smiling at us – he was the nicest hound dog ever! He saw Ally taking pictures and went right up to her to play for a while. He then followed us for a bit before he tired out and turned around.

Our Camera Crew Making Friends


And Then There Were Four

Greg managed to get his fifth flat today. Please note that Renate still holds a clean record – no flats. At least he used the tire-changing time wisely – on his phone to check email, text and call the office.

Checking Email while Waiting for a Flat Replacement

This evening we had dinner in Rockwood, Tennessee, with Dr. Mike and his son Michael, who graduated from Notre Dame in biology this year. Michael will be attending Vanderbilt University Medical School in the fall. He was on the Notre Dame crew team and talked fondly about his crew experiences. Dad proudly wore a Notre Dame crew shirt to dinner. We also talked about medical school applications and interviews, as this was fresh in Michael’s mind. They brought some nice gifts for Ally – including a Tennessee t-shirt that she wore when we got to the hotel and all the next day. We love to show off our van and all the signatures, so Mike and Michael came out and added their names. It was a wonderful evening.

Mike Sporting the ND Crew Shirt

Michael, Mike, and Greg

Organizing a big road trip like this takes a lot of planning, and a lot of people. But it’s just a little piece of the huge fight against Niemann-Pick on the Notre Dame campus. Take just one example: in Professor Kevin Vaughan’s lab, undergraduates, graduate students and even the latest mass spectrometry instruments are part of the project, with help from the Ara Parseghian Medical Research Foundation. Professor Vaughan’s lab is focused on the NPC1 genetic mutation that is responsible for about 95 percent of all cases of NPC. Using cell biology approaches, they’ve developed a new model to explain the consequences of the mutations – measuring the impact on the membranes where the NPC1 protein accumulates. Karen Huegel, a member of the lab, recently defended her Ph.D. thesis on the project that was funded by the Foundation in collaboration with Professor Holly Goodson a few years ago.

The lab has used new instruments in the mass spectrometry facility to identify proteins that are lost in the membranes containing mutant NPC1, potentially explaining the defects. One of these proteins, called StARD9, is a molecular motor protein that the lab predicts is responsible for cholesterol efflux. Professor Vaughan mentored an undergraduate Cell Biology Lab that studied this protein and determined that depletion of StARD9 mimics NPC disease, solidifying a link between this protein and NPC1.

Professor Kevin Vaughan

While Renate and I are riding to raise awareness this summer, a member of that group, junior Alexandria Brumfield, is generating data for a publication and a grant application to further the work. It’s all part of the Notre Dame family working together for the families who suffer from NPC.

Renate would like to wish her sister Debby a Happy Birthday and “welcome her into her decade.”



4 Comments so far

  1.    Jen Johnson on June 29th, 2011

    Keep up the great work. Your ride is inspiring in so many ways. Thank you for sharing.

    Proud to be an ND grad.

    Class of 1996

  2.    Sabine Fornfeist on June 29th, 2011

    Greg and Renate,
    You got lucky with the wheather and we got lucky with you!

    Thank you again so much.

    Love from Germany

    Sabine and Michael

  3.    Matt Kaczmarek on June 29th, 2011

    Renate and Greg:
    Way to go you two!! We have been tracking your progress at the club. Can’t wait to have you back safe and sound. You are an inspiration to us all. Keep it up. It’s all downhill from here….RIGHT???!!! Or at least it looks that way on the map.

    Matt

  4.    Bei Hu on June 29th, 2011

    Thank you. Great work and more to go! Keep it up and keep it safe!

    Bei