June 27 – Day 15: Bryson City, NC, to Pigeon Forge, TN: Up and Over the Smoky Mountains

Today was a challenge – a short day in terms of miles, but about 25 of them were up and over the mountains, in Great Smoky Mountains National Park. We left Bryson City very early, passed by the Cherokee Reservation, and climbed up the Smoky Mountains to more than 5,000 feet. It was a tough ride up because of the relentless incline, but the views were spectacular – from whitewater rapids to mountaintops and gaps.

Gorgeous Scenery

Whitewater Rapids

Riding in the Great Smokies

At the peak of the mountain, we passed into Tennessee. On the way down, our average speeds exceeded 30 miles per hour. At the bottom, Gatlinburg was waiting for us – a vibrant city with every trinket store and restaurant imaginable, tourists everywhere the eye could see. From Gatlinburg, we then rolled into our destination for the day, Pigeon Forge, Dolly Parton’s birthplace and home of Dollywood. This city also had just about every restaurant, amusement park ride, ice cream parlor, etc., imaginable. Although climbing the mountain was a challenge, it was by far our most beautiful ride to date, and the perfect weather helped us enjoy every minute of the naturally scenic route.

Thumbs up from Ally and Renate at the Top

Arrived in Tennessee!

This evening we had dinner with Susan, a Saint Mary’s alumna, and John, a Notre Dame alumnus and double Domer – also Notre Dame parents. We had a wonderful dinner looking out over the Tennessee River, close to the Volunteers stadium. We talked about our ride and the Niemann-Pick cause in detail. John wanted to know how Coach Ara Parseghian was doing, and we told him that he was just great – he spoke at our Niemann-Pick conference at Notre Dame a few weeks ago and gave the scientists a great pep talk.

Susan, John, Renate, and Greg

It was a wonderful opportunity to reflect on the conference. As many already know, the College of Science recently hosted the 2011 Michael, Marcia, and Christa Parseghian Conference on Niemann-Pick Type C Research, the first of a series of conferences permanently endowed at Notre Dame by the Ara Parseghian Medical Research Foundation. More than 80 researchers, students and NPC-affected family members from around the world attended the three-day event. Researchers told about hopeful discoveries and potential progress toward a drug treatment, and NPC parents told inspiring stories about their remarkable children.

Coach Parseghian, grandfather of Michael, Marcia and Christa whose NPC diagnosis in the 1990s inspired the foundation, kicked off the event. He thanked researchers for the remarkable progress – from the 1-yard line in our own territory, as he put it – and urged them to “cross the goal line and spike the ball.”

The news was encouraging. Dr. Camilo Vieira from Federal University in Bahia, Brazil, told us about the significant improvement of two patients on cyclodextrin (CD) treatment, and Dr. Denny Porter of the National Institutes of Health announced a planned safety trial for using CD to treat NPC. Numerous researchers presented findings that confirm the promise of modified CDs.

Another group of researchers, including several Notre Dame faculty, presented their findings that suggest compounds already in clinical trials for cancer could treat NPC. Notre Dame Professor Olaf Wiest explained the background of the idea to fight NPC with histone deacetylase inhibitors (HDACi), well-known drugs used for other diseases, while Dr. Fred Maxfield of Weill Cornell Medical College and Drs. Steve Sturley and Andrew Munkacsi of Columbia University presented studies that support that approach. Kasturi Haldar, Director of Notre Dame’s Center for Rare and Neglected Diseases, described the development of animal models for evaluating such potential NPC treatments, and Notre Dame alumnus Dr. Norb Weich told about starting Lysomics, Inc., his biotech company, to move the drugs quickly into trials for NPC patients.

Poster Session

The 26 oral presentations and 11 posters at the conference also included research aimed at understanding the biological processes behind NPC. Several scientists are using animal and cellular models and studying changes at the molecular and biochemical level.

To borrow Coach Parseghian’s football analogy, the conference was a huge pep rally that energizes us with hope from the researchers and inspires us with the urgent stories of the beautiful NPC families. Thanks so much to Katerina Lichtenwalter, Dr. Peter Pentchev, Professors Holly Goodson, Paul Helquist, Rich Taylor, Keith Davis, Olaf Wiest, Crislyn D’Souza-Schorey, Kevin Vaughan and Kasturi Haldar as well as Ed Bensman, Yaakov Sloman, Kevin Drew, Allen Utterback, Harriet Baldwin, Lauri Roberts, Julie Dowling, Kristine Phillips, and Zach Bloss for their hard work that produced such a great event. We look forward to pressing ahead for the next year, getting together again for the conference next June, and driving across that goal line soon for the sake of these precious children and everyone who will benefit from our fight.

1 Comment so far

  1.    Gary and Donna Lamberti on June 28th, 2011

    Greg and Renate,

    Views look gorgeous, but with them come hills. Glad you are doing well. Gary is starting to train for the “Hilly 100” (two things are disconcerting about that). Thanks for the inspiration.

    Gary and Donna