I live in London, England . Over here you just get sent to the nearest hospital with a specialist cf clinic . You can't go to a private hospital because the cf doctors have formed a syndicate agreeing not to see cf patients outside of the national health service. I understand my daughter has the mutations but i read about cases that never display symptoms and i know it might be too much to hope for but i feel pushing antibiotics on a child so well is going to do harm.
Hi and welcome Bigmonkey! You did great with your first time posting.
I know it can be overwhelming, but you should always feel welcome to ask questions and chime in whenever.
I'm glad your daughter is being seen by a CF specialist. I'm not super well versed on England's healthcare, but I am assuming she is in good hands. I completely believe you when you say you are not in denial, but are rather asking questions. As a parent, we want to know/learn everything possible so we can do everything we can for our children. In my case, I am the one with CF but we do have a 5 year old daughter and I know I'd be the same.
I am going to concur with Printer, with having 2 mutations identified it is pretty safe to say she has CF. A decent number of folks with CF are pancreatic sufficient, and CFers are actually born with "normal" lungs. Usually over time lung infections start to develop in the thick sticky mucus and ongoing/repeated infections and inflammation lead to permanent lung damage. Over the years on this site we have seen many cases where one's lung involvement does not start until further down the road. In fact, folks are now being diagnosed in their teens, twenties, thirties, and beyond. Some DID have symptoms long before that, but diagnosis eluded them. Others didn't have symptoms for many years.
One thing I will say is that it's actually very advantageous that she has the diagnosis because proper preventive treatment and care goes a LONG way in the CF world. On that note, I'm going to be honest and say that I'm not sure what I would do in regards to the antibiotics they want to do prophylactically. We hear SO much these days about antibiotic resistance etc. so I understand the hesitation. Granted CF is a WHOLE different ballgame and I was on antibiotics for years and years as a child, but no longer take any antibiotics prophylactically. Can I ask which drug they are wanting to use? I ask because here in the states CF docs often prescribe Zithromax (azithromycin) to be taken 3 times per week. While it IS an antibiotic, when used this way they are actually using it for it's anti-inflammatory properties. I do take that. Are you doing airway clearance and/or nebbed albuterol and/or saline? If I were me, I *would* do those if the care team has recommended it. As I said, the preventive treatment can go a long way, even if you are currently seeing no symptoms.
In regards to the diagnosis and sweat test.. In my opinion, the sweat test would be going a step backward since 2 mutations have already been identified. There are lots of folks who actually "pass" a sweat test with numbers in the negative or borderline range, but later 2 mutations are found and they are diagnosed with CF. If she took a sweat test and passed, I think you would still have the diagnosis. That being said, I don't think it would HURT anything to do one. They are painless and pretty inexpensive (relatively speaking). If it were positive it may shed some more light, but if it were negative there's a decent chance her docs would not want to change any of the treatment they are recommending, based on the presence of the mutations.
A couple kind of wild outliers I feel I should mention.... These are not likely scenarios but could be questions for you to ask.. First off, do you know the mutations specifically and could you give us those? We have lots of very knowledgeable folks on here who may be able to dig up some info on the mutations for you. There are now some (very few) CF mutations that are found to "non-disease causing". Which to be honest with you, I don't fully understand. These are identified mutations, but they appear to not cause the disease. Other REALLY crazy, and HIGHLY unlikely thing I want to mention, is that we've had at least one person come through this forum who indeed had two CF mutations, but both mutations were on the same allele.. If I remember correctly, this person did not have CF.
Whew, I feel like that's a lot. Let me know if you need clarification because I can kind of talk in circles. The last thing I want to say is that it is awesome how well your daughter is doing and I have a feeling she will live a long full life. I'm sure you know, but there is SO much excitement going on in the CF research world right now and progress is being made in leaps and bounds.. I've been around for 36 years and thinking about it makes the hair on my neck stand up. I think the prognosis for you daughter is bright. I was diagnosed at around 3 months old in 1981. I didn't have any digestive issues, but did have a cough, even as a newborn, and first lung infection at age 2. At that time my parents were told I would be lucky to live into my teens. Today I'm 36 years old, a college graduate, a wife and mom.
Well I better run, but take care!
Autumn