40 year old misdiagnoised as a baby

[meech]

HI, just wondering if anyone knows of a condition LIKE CF?
I am now 40 and was misdiagnosed as having CF when I was 6 months old. I got very ill with Staphylococcal pneumonia and my lung collapsed. When I was hospitalized the doctors contacted the hospital I was born in and discovered I had meconium ileus at birth. This got them testing and they did some kind of scope and found I was making NO Pancreatic Enzymes. Sweat Tests were high borderline, so my parents were told I had CF. I was treated for 10 years. At about age 8 my mom started thinking they had it wrong, she said I was a little chubby and just didnt look as ill as all the other children at the CF clinic. The doctor finally agreed but said one day there will be a condition discovered that mimicks CF and then we will know. Now, I have always had a lot of health issues but aside from the pneumonia when I was a baby, my lungs have been good. The only issues remotley related to CF are chronic blocked sinuses. Not sure if it is a CF type symptom but suffer from chronic constipation and mucus in my bowels. I am also overweight. I am looking for answers now as I have a condition non histaminergic angioedema and my current doctor says that sometimes it is caused by something internal like a malignancy or an autoimmune condition. My blood work is clear with the exception of a consitantly (usually mildly) elevated wbc and elevated neutrophils. So any ideas would be greatly appreciated. Unfortunatley the CF doctor I saw as a child has retired (Dr.Bill Wilson in Ontario) or I would have tried to contact him. Thanks

 

[jaimers]

It would probably be a good idea to see if you can get a genetics test so that you can know for sure if you have any CF mutations. some mutations lead to less severe lung involvement and more . These days more people are being diagnosed later in life and don't necessarily display the classic symptoms of CF (chronically underweight, terrible lung issues). The chronic constipation and mucous in your bowels could be CF related. I think going to an accredited CF center (if you're not already seen at one) and pursuing genetic testing would be wise.

 

[Hail2Pitt]

I agree with jaimers - get genetic testing done to find out for sure. There are 1000+ mutations that cause CF, and there is a huge range of how sick CF patients are. For me, you'd never know I had CF just by looking at me - though I'm thin, I look very healthy, and I only really cough when I do airway clearance. I know that a few of the patients at my clinic are overweight, and some patients barely have to do any airway clearance at all. Many of us aren't the "classic" CFers. Anyway, I'd strongly recommend the blood test. If you do have CF, you should start a relationship with your nearest clinic to ensure you're doing all the preventative treatments you should be doing. I wasn't diagnosed until 7 years ago, so I'd never done airway clearance in my life. I think that's a big reason why I ended up with M. Abscessus, which has been really tough to deal with. I wish I would have known earlier and could have been doing preventative treatment all along, as I don't think I would have caught that bug. Just my 2 cents...

 

[meech]

Thank you both so much for your responses. I have found the phone number for the adult cf clinic in my area and will give them a call next week and look into the testing. Do you happen to know when they started the genetic testing for cf? I was last at the cf clinic in about 1985 and I have no memory of it ever being mentioned. Thanks again

 

[JustaCFmom]

CF gene

Thank you both so much for your responses. I have found the phone number for the adult cf clinic in my area and will give them a call next week and look into the testing. Do you happen to know when they started the genetic testing for cf? I was last at the cf clinic in about 1985 and I have no memory of it ever being mentioned. Thanks again

The CF gene was discovered in 1989. Front page news

http://www.sciencemag.org/content/245/4922.toc

 

[meech]

Thank you. I was only 15 in 1989, and the news was not really on my radar. I have been reading a lot the last few days and have picked up a bit, but must admit a lot of the medical info is Greek to me. When I was going to the clinic a lot of info was not discussed in front of me. I remember the breathing treatments and chest clapping and taking the enzymes every time I ate.

 

[MichaelL]

I strongly agree with the comments above. My sweat tests come back negative -- not even borderline. However, I was diagnosed at age 34 with genetic testing. I am pancreatic sufficient, so I don't have to take enzymes. Pancreatic sufficient CFers generally are not as thin as those who are pancreatic insufficient. Like you, I have problems with ongoing constipation and take laxatives twice a day with mineral oil to keep things moving. Symptoms of CF can vary widely based on individual people and their mutations.

There is so much to learn. I would pursue the genetic test and see where that leads you.

 

[meech]

Thanks. I talked to the Doctors assistant at my local clinic today and gave her my history. She said they would definitley be interested in seeing me. I just need a referral from my family Doc. She took down my name and said they would be watching out for the referral to come through. So hopefully I am on the road to getting some answers. Thanks so much to you all for the advice.

 

[windex125]

I was diagnosed as a baby 1954 failure to thrive and constant phemonia at 8yrs old they did a sweat test and since it was borderline I was discharged from the clinic my Mom was taking me every other month and received no proper care till my early 20's I had all the problems constant cough, low wt, mucus constantly, stomach issues. I finally went to a CF center in my mid 20's they did the2 more sweat tests again still borderline but then the doctor sent me to UNC and they did what is called a nasal choloride test and it was positive. So I have been treated since the age of 25 and I also was PS till just last month I am a 59 yr. old female I have only one functioning lung at this time the right collapsed yrs ago and we just left it. I also grow a very bad bacteria MAC which no med really helps. I have alot of other issues but why depress you? get the genetic testing done so you know for sure.

 

[meech]

Just wanted to say thank you again to all. My referral went through and I have an appointment with the CF clinic at the beginning of September.

 

[welshwitch]

Let us know what you find out! <3

 

[meech]

I will, thanks. Also call the hospital where I was first diagnosed and found out I can get a copy of my records from back in 1974. It will be an interesting read to see what tests and things they did to come up with the cf diagnosis.