Jennifer Kopf

Why do we stride?

As most of you know, when our son Adam was 2 weeks old it was discovered he had some markers for Cystic Fibrosis. After further testing he was diagnosed with CFTR Related Metabolic Syndrome or CRMS. This diagnosis is given to people who have gene mutations in the CF range but have inconclusive CF test results. For Adam this means that he needs to be closely monitored and he goes to the Lung Center at Women's & Children's Hospital every 6 months for evaluation and testing. The good news is that, so far, his test results have always come back negative and his health is that of a normal 13 year old.

After Adam's diagnosis we knew we needed to get involved. When I received that initial call from our pediatrician I did what anyone would do and searched the Internet to try to learn more. What a mistake that was! I found old statistics and bad information. Once the doctor's at the Lung Center gave us the true facts - that tremendous advances are being made in the treatment of CF, that the average age for CF patients is almost 50 that they're close to a cure - I decided call our local CF Chapter and see what I could do to help. Before we knew it we had our first Great Strides team and raised about $5,000 with help from family and friends.

Fast forward 13 years. Adam continues to be healthy and our involvement in CFF is growing. He eats, sleeps and breathes hockey! During that time our Adam's Apples walk team has raised over $135,000!! in 2014 I joined the board of the WNY Chapter of the Cystic Fibrosis Foundation and now serve as the Vice Chairman.
With Adam doing so well it would be easy for us to get complacent, give up our fight. Maybe Adam won't ever get sick and how much can we really do anyway?
Adam is extremely lucky. CFTR, or Cystic Fibrosis Transmembrane Conductance Regulator, is a protein made by the “CF gene” that acts as a channel to move salt in and out of the cells. When acting normally it keeps all the fluid in your body flowing normally, particularly in your lungs, pancreas, and reproductive organs. In CF patients these fluids don't move properly, instead becoming 'sticky'. In Adam's case, his gene mutation combination causes a narrower channel in the CFTR protein. Over time build up can occur which could lead to problems with his lungs or digestive tract. That's the bad news.

Amazing progress continues to be made and we are so close to the finish line!

If you want to learn more about anything I would be happy to share. They say everything happens for a reason and I really feel that way. This has given us a purpose in life. We could be a part of changing history.

Thanks for your continued support.

Jenn (and Rob, Natalie & Adam)