Day 19: McCook, NE to Yuma, CO

Today was a more challenging ride – the crosswind was back, and it was blowing at 18 mph with gusts of 28 mph. It looks like we’ll have more of that tomorrow and it will be hotter, but the winds should ease off a bit. That will be nice.

I left very early this morning and the sunrise was spectacular. The sunrise is always one of my favorite parts of the day.  The prairies and wheat fields were marvelous and looked beautiful blowing in the wind.  As we crossed into Colorado, we probably could see 50 to100 miles in all directions. The train off in the distance, probably a mile long, looked like a toy in the landscape under that big blue sky. We’ll see the Rockies tomorrow as we head toward Denver.

The ride was exhausting, but my energy gets restored when I think of the NPC kids and their families. I wish I could be at the NPC Conference at Notre Dame this week, but it’s great to hear all the news from this wonderful event. Thursday night after dinner, the NPC patient advocates got together for an informal discussion. Representatives from Dana’s Angels Research Trust (DART), National Niemann-Pick Disease Foundation (NNPDF), Race for Adam, and Support for Accelerated Research (SOAR) discussed their fundraising efforts. Cindy Parseghian talked about the current research grant process at the Ara Parseghian Medical Research Foundation (APMRF). The parents also talked about their feeling of helplessness when insurance companies refuse to pay for treatments that have not yet received FDA approval, even though research has shown the treatments to be effective. These treatments are very expensive, often about $100,000, so the families are in a very difficult situation.

Friday’s scheduled was packed with talks from 8 a.m. to 6 p.m., and even the hour-long lunch break was largely taken up by stimulating discussions after the presentations. In the morning, researchers discussed their work on novel and existing biomarkers, compounds used for diagnosis and evaluation of potential treatments. Then came a very promising report on the progress of two Brazilian teenage girls, who have shown significant improvement after a two-year cyclodextrin regimen. A clinician from Germany presented on the psychological and psychiatric aspects of NPC, a previously untouched area in NPC research. On her way to South Bend, she stopped for several days in Texas to visit and interview a patient, and she showed the video of those conversations. In the afternoon, talks focused on two potential treatments that are being prepared for clinical studies in the United States: histone deacetylase inhibitors (HDACi) and cyclodextrin. One presenter discussed the process of repurposing a previously-approved drug for NPC.

The highlight of the day was a patient’s perspective presentation, given by a wonderful family from Germany who came to the conference with their 12-year-old daughter, Lili. Lili’s parents took turns narrating their story: six agonizing years in search of a diagnosis as they watched their daughter’s decline. The couple had discovered through extensive Internet research that Lili’s symptoms resembled NPC, and a doctor finally confirmed the diagnosis. The story was so poignant and moving that the audience sat in several minutes of silence before they could continue with the session. We are very grateful to this family for their willingness to travel to South Bend all the way from Germany and to share their heartbreaking story with us.

Although I am not at the conference in person, I am making sure to get all the news from the sessions and the talks. I am so inspired by the children, the families and the scientists so dedicated to raising our understanding and finding a cure.



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