Mild CF

Last week I posted information about my CF mutations, including one mutation associated with mild CF. I thought writing a blog about mild CF would make a good blog topic. Having mild CF means:

• I cough everyday. I clear my throat all the time...the more I talk the worst it gets.
• I do treatments for mucus clearance. My first choice is exercise and I use an acapella. I also have a vest, but I only use it when I am below my baseline.
• I have major sinus problems. I know I will battle this for the rest of my life. In turn, I do sinus rinses every day, twice a day.
• I take three medications regularly. They are all to control sinus infections/inflammation.
• I had sinus surgery in 2008.
• I go to clinic 4 times a year.
• I have above average PFTs, except small airways.
• I am pancreatic sufficient. I do not take any enzymes.
• My normal antibiotic is oral Cipro. A three week treatment when I am below baseline is usually the best treatment plan that works.
• I have never need IV antibiotics.
• I have only been over night in the hospital once related to CF. The stay was for one night.
• I live a pretty normal life. I am married, have two dogs, I am a homeowner, I work full time, and I have a college degree.
• I know I am lucky to be healthy and have a CF that is mild.

Mutation

In 1996 when I was first diagnosed with CF, I had DNA testing done to determine my mutations. They found DF508, but listed the second as unknown. A few months ago, I had the DNA retest to see if the advance in technology could help identify the second mutation. And it did! My second mutation is 3849+10kbC-T. A genetics counselor discuss the significance of this gene with me. It turns out it is known to be associated with mild CF. Most CFers with this mutation are diagnosed later in life, are pancreatic sufficient and have higher lung function. These are all true of me too.

Although I really didn't need these results to know I have CF, it is very interesting and somewhat helpful to discover. Especially because the findings of the research completed fits my life so well. They described to me why they think this mutation is correlated with mild symptoms. It mostly has to do with the presence of a protein that is normally absent with CFers. In some cases only a small amount of the protein is present, but it is enough to make a huge difference. A lot of research is focused on this concept to develop a cure.

May Clinic Visit

This was a bad visit for me. It started with getting a sinus headache on the way to the appointment. This has been my first major sinus headache in a long time. By the time I got to the appointment, I didn't know if I was going to be able to discuss anything with the doctor except how bad my head hurt. The first step in clinic is PFTs. Mine were horrible this time, some of the lowest numbers I have ever blown. I was trying really hard to not let the headache be a factor, but it was. I blew an FVC of 103%, 3.63 (last time 105.2%, 3.69), FEV1 of 89.8%, 2.69 (last time 96.8% 2.89), and F25-75 of 55.6%, 1.91 (last time 72.6%, 2.49). That F25-75 was the lowest I have ever blown, ever. I know I was not feeling great during the test, but I also know that I have been keeping up with exercise and my lungs have been feeling really clear. I am still planning to increase my treatments to make sure that number get up for next time.

Besides the headache, meeting another doctor on the team was interesting. This doctor talked a lot of technical talk. The type that makes no sense at all. Or doesn't seem to have a point. Or mean anything to one who is not a doctor. I found it frustrating that he wanted to talk to me about the scientific names of various parts of the lung, but never even asked what I do for mucus clearance. Probably the first time ever a CF doctor did not ask that question.

Based on the significance of the headache, we agreed I would need to connect with an ENT. Additionally I am going to have my vitamin D level re-checked to see if my supplements have improved my levels.