I imagine you will see your daughter's CF doc again, if for no other reason than to close out and take her records. On the one hand it is heartening to see a. CF doc not bowing before genetics. From your post, I wondered if you or possibly the doctor are communicating, genetically speaking. This can get complicated fast so I recommend that you make sure you are up to speed. If you are, all the better. Others may have better suggestions on the shortest path to the best short course but Wikipedia search for cystic fibrosis and CFTR gene mutation yields concise data, especially the genetics. Ok, the short version. I assume you know the two CFTR mutations must have two mutation copies each. In theory the CFTR gene mutation is recessive therefore the mutation must be inherited by both parents. You can have one copy of any number of mutations and the corresponding healthy copies prevent expression of cystic fibrosis. Armed with this, look at the genetic analysis. Heterozygous is inherited from one parent, homozygous is inherited from both and Bingo, genetic confirmation of CF. Anyway at this next meeting with your CF doc, have him go over your daughter's genetic test. I would obtain a copy of the test and already have cyphered it first. If your daughter has CF, and she should have been given a sweat test before genetic testing, I assure you lung or ENT problems and pancreatic/GI problems both cause high morbidity and mortality. A day ago on this forum a 9 year old is entering liver failure. He probably drank. Yeah that was sick but it is a perfect change of my crystal ball. Any doctor can read a genetic analysis and understand what it says. The tests are easy Mendelian representative printouts that a high school biology class could follow.
The reality isn't that straight forward. Heterozygous mutations can act recessive as advertised. Others can express themselves on a scale ranging from near recessive to no measurable difference from a homozygous pair of mutations. In short CF can express any to all characteristics. Carriers would undoubtedly have an on average better prognosis. Carriers often have comparatively mild puminary symptoms but carriers and genetic CFers can have every abdominal nerve plexus constantly raw from every conceivable GI problem. My paternal grandmother died from pancreatic cancer, father died from malnutrition and I have been PI from 3yrs old by estimates. I am 62. My pancreatic pain level is constantly at "acute" level. I know what weeks of acute pancreatitis is and you must be ready to jump out of your skin, watching her outrageous suffering and being minimalized by her doctor in the process. Idealy, you should be using a CF clinic. It is difficult to advocate in this environment, where CFers with pulmonary symptoms seem to be the defacto treatment. The very design of a CF visit focuses on lung condition. In the last year I was battling some life threatening constipation. By chance over a year, 4 abdominal CT's marked the final progression of the neatl term for organ death, fatty replacement. Live pancreatic tissue digested by the very fluids that make meat nutritious, is performing auto-digestion on the pancreas.
You have a very ill child and something between you and your daughter's doctor isn't connecting. As her advocate I suggest you consider advice from my old doctor; sometimes you have to fight for your right to quality medicine. Never leave anything medical to faith.
