Carrier Unidentified Gene Mutation

[JakobJulian11.]

Hi All,
Just wanted to run some things past you experienced people. I am 55 years of age. My son was diagnosed with CF four years ago. His father is of German origin, I am Australian with British heritage. My son was 30 years old and was trying to start a family. Testing eventually diagnosed CBAVD and gene testing confirmed presence of Delta F508 mutation. They have since successfully undergone IVF and have a 3 year old son!!! Family testing confirmed his father was the carrier and my gene was not detected, although I presume it is there as otherwise my son would not have CBAVD? My son has no other symptons and hopefully none will eventuate. However, in the last couple of years I have developed chest and mucus problems. I have never suffered these sort of problems in the past. I have had other serious health issues with my kidney's, I was a runt of kid with ongoing kidney infections which resulted in completely atrophied left kidney. I have remained rather skinny all my life whereas my sisters have blossomed into middle age spread. For the last couple of years I have continual phlegm every morning and this is starting to continue through the day. It started with what I thought was a common cold and the phlegm and congestions just never went away since November 2015. My doctors have had me on antibiotics for lung infections that seem to clear up but the mucus remains. I have completely lost my sense of smell and taste. Occasionally I get a hint of my smell returning but the phlegm then increases again and its gone. I can also taste salt in my phlegm all the time in recent months. I have had lung scans done with no indication of any CF symptoms there and good lung function. My side of the family have not been tested as the gene mutation on my side was not identified. My son was told at gene testing that he is a very rare case where only one mutated gene is detected but that there are thousands of mutations which have not yet been identified and that my mutation must be a very rare one??

My question is, should I just accept the continual phlegm and congestion as "sinus" (which I have never suffered prior to now) as well as the loss of smell and taste (except for the taste of salt in my mouth and sinuses) or continue to search for some rare side affect of a gene mutation associated with CF?

Thanks for reading. Jenny

 

[LittleLab4CF]

The marginalized CF carrier is an unfortunate situation and the beginning of countless hours trying to figure out what is going on. As a carrier and parent to a CF carrier it is not surprising that you have symptoms, albeit not as severe as full blown CF at the other end of the spectrum. If you carried a benign mutation, it's​ unlikely that you would have a son with CBVAD. A benign variant or mutation is one that won't result in CF when combined with a second mutation known to be CF causing.

According to some interpretations​, I am a CF carrier. I'm fortunate to have been diagnosed via sweat chloride test before any genetic testing. Otherwise, I have no idea what or how I would be pigeon holed, probably not CF. I also have CBAVD. A few years back the CF Foundation created a group of CF misfits that may become fully CF or just require some watching and treatment of limited CF issues. Called CRMS, CF Related Metabolic Syndrome, I see it as a way to treat symptomatic carriers and CFers who's CF haven't yet expressed the worst of their genes.

This is my pet theory that has little evidence in scientific literature. When I was diagnosed at 51, my earnest search for the reason I was rapidly growing weak and unable to be productive had been going on for about five years. I'm one of those people who had boundless energy and enthusiasm for the work I did. A typical week actually was 90 hours and often more. My work was challenging and rewarding, I easily could have worked around the clock I loved it so. Almost like a tire with a slow leak, my ability to do work went flat as my search for a diagnosis dragged on.

In my own case, I have been sick my entire life, but this is something I can see in hindsight. My father had more advanced health issues, but I had everything he was dealing with. I had written it off as annoying hereditary health issues, just as I shrugged off my father's missing adult canines​, as are mine. The earliest medical records I have is my father's discharge from the Army. He enlisted in 1942 and was discharged after boot camp on medical grounds. Simply "neuro-gastric disorder" was on the diagnosis line. He went on to operate an Air Force (Army Air Corps) modification center during the war. His mother died from cancer of the liver/pancreas in 1945 at age 47. He died in 1970 just after his 48th birthday. Neither had a CF diagnosis and neither has an explanation of why they were sick. It's not hard to believe that my grandma, father and I have a different gene, one that decides what, where and when CF is going to "turn on" or activate. Whether it is a gene associated with CF or something totally unrelated to genetics​, the effect of a sudden decline certainly fits.

The root of infection for those who have CF or are symptomatic carriers is often the sinuses. CF lungs make for much more than an infection, they create a near perfect environment for infection. My father had sinusitis and I had my first sinus surgery at 20. His post mortem basically said he had died from failure to thrive, complicated by pneumonia, the actual cause of death. CF had just turned on, it seems. His pancreas atrophied in a few months, lost 50 of his 145 pounds and then they diagnosed him with pneumonia. My doctor has confirmed that this was most probably CF.

I'm going to say that you are likely going through a version shared with me, my father and grandmother. Something has turned on genetically. A CF clinic should have good answers as to what CF therapy might help. Or, buy something to do daily sinus rinse. Head infection isn't trivial, I've had at least 2 cases of meningitis with pneumonia and 3 sinus surgeries in the last ten years.

Good luck, don't be a stranger.

LL