Sunday, April 4, 2010

Worth His What?? (Cystic Fibrosis 101)

Since I've spent the last several days poring over books and websites (reputable ones ONLY, the CFF website, the Mayo Clinic, WebMD... NEVER EVER EVER go to wikipedia or just a random Google search)I have a lot of knowledge now, and am pretty sure I can give you the breakdown of what Cystic Fibrosis is in laymans terms.

First of all, it's a genetic condition. In order for a child to inherit the disease, both parents have to be a carrier of the faulty gene. Mike and I both come from large families with no history of the defect, so we didn't even know we should be tested. But as it turns out, we both carry a faulty gene, Delta F-508, the most common of the over 1200 known gene mutations that cause CF. Any child we concieve without medical intervention has a one in four chance of having the disease, and a 50% chance of being a carrier. If we have the means to have another child in the future (which we very much hope to do), IVF can select embryos that are not infected and implant them. Not only am I not ready to think about that, it has brought about some unanticipated moral questions in my mind about discarding fertilized embryos.

The Doctors and specialists use the term 'basic defect' when it comes to the root cause of the troubles CF brings on. This basic defect is in the epithelial cells, a channel used to transport salt and water through the cell walls. (these channels are called CFTRs, (cystic fibrosis transmembrane conductance regulators- five times fast, I dare you) They aren't able to transport salt normally, and as you know, salt dehydrates things, in this case, mucus. The dehydrated mucus becomes thick and sticky, and hard to get rid of. It provides a fertile breeding ground for bacteria in the lungs, leading to frequent lung infections that are hard to clear, again due to the difficulty of removing the thickened mucus. The other primary trouble lies in the digestive system, where the pancreas is unable to transport digestive enzymes to the intestines, leading to malabsorption of nutrients and if untreated, malnutrition. Many CF kids have a hard time growing and gaining weight because in addition to this, they have at least double the caloric needs of another person of the same body size. Body mass has been directly linked to improved lung function, so it's hugely beneficial that Jackson was diagnosed and started treatment so early, before 'failure to thrive' became part of our nightmare.

In the 1930's children with CF rarely made it to their third birthday. I'm happy to tell you that's no longer the case. The projected average age of survival is today in the late 30's. Yes, that scares me beyond words, but I have every reason to believe that 30 years from now CF will be CURED. There are genuinely thrilling things going on in the world of treatment, including the drug VX 809, currently in clinical trials, that has the potential to FIX the basic defect. There arehuge advancements going on in treatments too, drugs that thin the mucus, aid digestion and nutrient absorption- as a matter of fact Jackson's vitamins were just recently made available for prescription, and the technology behind them is amazing. Perhaps you can understand why my new full time job is fundraising for CF research? For more information on the Drug Development Pipeline, go here:

Currently Jackson takes Enzymes before every feeding to help him digest his food and suck up all the good stuff so he can grow. And now we know why he wasn't the behemoth he was predicted to be at birth. He also takes the space-age vitamins, and a salt supplement each day to replace the extra salt he loses in his sweat. For his tiny body, he takes a Whataburger packet of salt a day, no kidding. As he grows, we will do everything we can to get him into clinical trials and to further drug development. More than the desperate mother in me believes we can cure this disease in his lifetime. I think knowing you're likely to outlive your child is just about one of the worst things that a parent can go through, but the misery is tempered by the potential to change that outcome. I want my son to grow old, and I want him to be able to have his own children if he chooses. Without medical intervetion he only has a 2% chance of doing that right now. I can change that, I can spread awareness and raise money and make a real difference in the most important fight of my life. And that's exactly what I'm going to do.

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