New to CF world, looking for diagnosis

[sunshinemomx4]

Hello everyone,

I know I am at least a CF carrier (due to genetic testing during pregnancy), and I have one child who is a carrier as well. I am starting to wonder, however, if I may be mild/atypical CF. I have dealt with (relatively minor) health issues my whole life, including allergies, sports induced asthma, other nasal symptoms, GI issues (which in turn have caused other problems, such as excema and staph) and dental carries/weak enamel. My minor issues, however, continue to worsen and impede on my lifestyle. My son (CF Carrier) also has some of the issues I described for myself. My mother has always struggled with GI issues, and within this past year has been hospitalized with pancreatitis. I understand these could all be circumstantial, but the more I research to find some answers to various issues, I keep being brought back to CF. As I understand it, the only definitive answer to find out if I actually have CF is genetic testing, and that is only reliable if the particular mutation is one that is tested for. I have joined this forum to learn more, and hopefully understand what my options are for possible testing and generally "feeling better."

Thanks for letting me join!

 

[Printer]

Your test was most likely only 100 (or less) mutations. There are almost 2000 known mutations, ant two can cause CF. When I was first tested, in the late 90's, my second mutation had not been discovered.

You should contact your nearest Approved Cystic Fibrosis Center, have a sweat test done and possibly a FULL CF SEQUENCING done.

Bill

 

[Beccamom]

I was wondering about myself just like you a couple of years ago. I have two children. My one daughter's lung function dropped to 50% and my other daughter had a 20% decline in lung function although she declined to the 90s. This led to both of them being tested for CF after I saught a second opinion with a new pulmonologist. They had both seen pulmonology since they were babies for "asthma".

My girls are genetically both CF carriers of two different mutations. My doctor put it together and I was genetically tested and I have two mutations. I had a sweat test and I'm now diagnosed and treated for CF. I feel soooooooo much better. My daughter who is genetically a carrier is treated with the same treatment as me and after 2 years her lung function increased and holds in the 90s. My other daughter never had asthma and is off all medicine.

As for your options, I called Ambry genetics and they sent me a free collection kit. My primary pushed my insurance company to pay for the test. I went to my local hospital which is in-network for my insurance and they drew the blood and packed it in the kit I brought. I took the box to a FedEx distribution center that handles blood and they shipped it off. About 3 weeks later I received my results, one week after that I went to my first CF clinic appointment and now I have the best care team.

best wishes

 

[LittleLab4CF]

Focusing on the health issues you and your family might have is the top priority. Genetic testing may confirm a second mutation on the other chromosome and if so, they both could be working poorly. This is a simple genetic example and it gets tricky quick. I am heterozygous S1235R and I have had every possible CFTR mutation (Cystic Fibrosis Transmembrane electrolyte conductance Regulator) mutation checked for. I am only confirmed CF by a sweat test and of course, my health issues. As it turns out my particular mutation is known to actively interfere with the good copy of the gene.

This may turn out to be the case with any number of mutations. Of the approximately 2000 CFTR mutations and another 700 or so theoretical mutations, a fraction of these have been tested and confirmed harmless or to contribute to CF. There is still a long track ahead in understanding the genetics.

To keep us humble and human, genetic testing can confirm homozygous delta F508D in two related people, under the same roof and only one is symptomatic. The issues you describe are similar to those that are being grouped in CRMS (Cystic fibrosis Related Metabolic Syndrome). Malabsorption and poor amylase/saliva quality are CF and result in weak tooth enamel and decay. Things like various GI problems otherwise idiopathic will be in fact CF and not psychosomatic. Those sinus infections and constant ear and possible throat infections all fit CRMS or atypical CF. Doctors, especially CF specialists intensively treat lung problems, a truly defining break in CF’s severity. In 1950, the year I was born, a CFer’s life span was measured in hours, very rarely did a newborn CFer make it past one day.

Cystic Fibrosis got its name from the type of pseudocysts and cystic scarring of the pancreas to a large extent because a newborn with pulmonary issues from CF died before any real evidence beyond “wet lungs” was found. An excellent article on CF was published in “Discover” magazine’s September or October issue. You may find a link to it in a past post on this site.

What may separate CF into more or less severe groups is not found in CFTR mutation analysis rather the yet unknown genes that turn on the CFTR gene in various areas of the body. The same genetic information exists in every cell in our bodies excepting sperm and eggs. Mucus glands are abundant in every gland in the body plus every epithelial layer. This includes our skin plus every wet surface in our bodies. Why would mucus glands in the gut produce thick, unmoving sludge and produce normal mucus in the lungs? Or, why could this be the other way around or attack organs and systems one at a time? In short, it is the infinite variety of the human genome.

Chances are high you will fall into CRMS’s box rather than CF. The issues of malabsorption/malnutrition so many symptomatic carriers miss can be an expensive oversight. A bone scan would be in order for you which may quickly indicate years of missing out on fat soluble vitamins and minerals. You also may find you need to have your sinuses and septum worked on if you have had a lifetime of unrelenting infections. Being diagnosed CRMS is a good route unless or until you develop more CF issues.

LL