Possible New Diagnosis at 51 - Have Questions - Please Help

[drivevirginia]

I will try to keep this as short as possible. Background follows, or skip right to the main questions below. My apologies. I am a 51 year old male. Went to ER for blood in stool (10 years post colon cancer) and found obstructing kidney stone. They did an abdominal CT. During the ER visit, I vaguely remember them mentioning pneumonia. After treatment and discharge, I got my CT report from patient portal and for the portion of the chest that was captured on the abdominal CT, it says "Tree-in-bud opacities as well as mild groundglass opacity partially imaged at the superior segment of the left lower lobe. Mild bronchiectasis is also seen. Elevated right hemidiaphragm." After Googling this, I thought it was worth checking out. I called the pulmonary department at Johns Hopkins, which is where I have been treated for 10 years. They said that they would review the records and call me back about an appointment. The scheduler called me and made an appoint for me six weeks out. Researched the doctor and the only thing he does is adult Cystic Fibrosis. After many hours of obsessive Google, I do have many of the symptoms.

My questions are:

1. How common / uncommon is it to be diagnosed at age 51? I have had 20+ cancer screening CT's in the past 10 years, and other than mild pleural thickening the past two years, nothing abnormal.
2. I have read that in something like 98% of males, the vas deferens is absent or blocked. I have three children and had no issues conceiving. Is that possible with CF or with a late adult diagnosis, does the reproductive not happen until later in life.

Thank you in advance for your help.

 

[Runnergirl227]

Diagnosis of cystic fibrosis is becoming more and more common at older ages. This is due to a number of reasons. First, the ability to detect the genetic mutations that cause cystic fibrosis has grown immensely. In addition, more physicians have cystic fibrosis on their radar especially with atypical presentations. I was diagnosed at age 40. There are varying degrees of cystic fibrosis (based on the type of genetic mutation) so its possible to have it and not have all of the severe symptoms of someone who has a more severe genetic mutation. Based on the information you have provided above and has been provided to you, I would say that you cannot make the diagnosis of cystic fibrosis based on that only. "Tree-in-bud" opacities are more commonly seen in atypical mycobacteria infections like mycobateria avium. This can be seen in cystic fibrosis but is certainly not exclusive to cystic fibrosis; same thing with bronchiectasis. You will definitely need additional workup including genetic testing and likely a sweat chloride level. I understand that all the waiting is unnerving. Hope you get some answers soon!

 

[mikej460]

Diagnosis of cystic fibrosis is becoming more and more common at older ages. This is due to a number of reasons. First, the ability to detect the genetic mutations that cause cystic fibrosis has grown immensely. In addition, more physicians have cystic fibrosis on their radar especially with atypical presentations. I was diagnosed at age 40. There are varying degrees of cystic fibrosis (based on the type of genetic mutation) so its possible to have it and not have all of the severe symptoms of someone who has a more severe genetic mutation. Based on the information you have provided above and has been provided to you, I would say that you cannot make the diagnosis of cystic fibrosis based on that only. "Tree-in-bud" opacities are more commonly seen in atypical mycobacteria infections like mycobateria avium. This can be seen in cystic fibrosis but is certainly not exclusive to cystic fibrosis; same thing with bronchiectasis. You will definitely need additional workup including genetic testing and likely a sweat chloride level. I understand that all the waiting is unnerving. Hope you get some answers soon!

I suffered chronic sinusitis from early teens, I was hospitalised with heat exhaustion and severe dehydration whilst working in a hot humid climate in my late teens, I was diagnosed as having CABVD at 28, then being a CF 'carrier' in 1996 following screening for IVF after ICSI was developed (this was really at the start of DNA testing and wasn't sufficiently advanced to test for the thousands of CF mutations that actually exist). My only symptoms up to my early 50s were sinusitis and CBAVD but then I started to suffer a recurrent chest problem (wheezing and shortness of breath). By this time aged 54 I started to put 2 and 2 together and following comprehensive research I discovered that Atypical CF existed and I might be a sufferer, so I discussed it with my GP who organised a consultation with a specialist. He organised a sweat test which was borderline fail and a chest CT which revealed borderline bi-basal bronchiectasis; he had my DNA tested for Kartagener syndrome and CF. The Kartagener syndrome result was negative but the CF positive, so my GP referred me to the nearest Adult CF Clinic.

After this my life changed somewhat with medication and routine 6 monthly examinations and tests but the clinic were, and still are, absolutely marvellous. They resolved my chest problem with targeted antibiotics and put me on DNASE to help my chest and sinusitis. They also monitor my vitamin levels which revealed a vitamin D deficiency a, bone density scan then revealed Ostepenia so now on Vit D and Calcium supplements which are boosted in the winter months. Other issues that have popped up over the years (I am now 62) are kidney stones, hemorrhoids and an anal fissure (all caused by dehydration and very unpleasant but resolved), arthritis in both my feet and lately some sort of inflammatory issue that is affecting the tendons and joints in my hands and feet with Rheumatoid Arthritis ruled out. I don't yet know if this is in some way connected to my CF or not. I must stress that I have none of the crippling symptoms of full blown CF.

In answer to your specific questions:
1. My CF Clinic said the oldest person they diagnosed was 74 following a lifetime of chest problems. My research shows that due to DNA testing being relatively new science many people are now being diagnosed late in life.
2. You could be one of the 2% but you will never know until you are tested - also consider being tested for Kartagener syndrome. If you are tested positive for CF or some other DNA mutation you should consider having your children tested in case they are carriers.

I hope the results you get provide you with the answer to some of your medical issues; when I was finally diagnosed it was a strange relief.

 

[findcure]

Hi mikej460, I am working on developing new drug for the treatment of CF. Would you like to share the kind of mutation that you carry? I am guessing it's the TG12-T5 or TG13-T3, or a combination with other mutations, but I might be totally wrong.