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Concerned aunt/mom
New Member


Date Joined Jun 2008
Total Posts : 5
   Posted 6/8/2008 4:25 PM (GMT -7)   
My nephew was just diagnoised at age 22 years old five days ago. I have read everything I can online. He goes in for more testing this coming week and I know they will give us more information then but, I'm going crazy now. The things I've read all say mother, father, and any siblings should be tested. What about myself and my kids? If it takes both parents to carry the gene, doesn't that mean I could also be a carrier?
I'm not trying to make this all about me. I love my nephew and want to do all I can to help him and my sister. However, I have five kids and we have always said my oldest and my nephew were two peas in a pod. They have the same build, neither have any extra weight to spare, they seem to have had a lot of the same illnesses and the list goes on. I have read about the early signs of CF my oldest fits so many of them just like my nephew. My three middle children are extremely healthy, but my youngest shows similar signs. At birth she spent a week in ICU ), because of a condition in which lung air leaks into the chest cavity through a small hole that forms in the lung. They patched the lung and she hasn't had any problems like that since. However, that was one of the conditions describes as a CF condition. Am I reading too much and letting myself jump to conclusions?

Please give any extra insight you have. confused

Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 6/8/2008 11:12 PM (GMT -7)   
Hi there,

Sorry to hear your nephew has been diagnosed with CF, it must be hard for you and your family and I can understand your concerns. I am aged 22 now, and have grown up with CF, after being diagnosed at aged 2 years old. I can't even begin too imagine how your nephew must be feeling. I think I would personally, be very scared and need a lot of support. Having grown up with CF, I've always needed that support anyway.

There is a possibility you could be a carrier, as you're correct in thinking that one of your parents must have to the gene too pass it onto a child too be a carrier. 2 copies of the gene, one from each parent has to be passed on, to become full blown CF. 1 in 25 people are carriers of CF. I think when someone is diagnosed, they only test immediate family, I'm not sure exactly. Either way, the test involves a simple sweat or blood test.

Along the symptoms side of things, CF seems to be a whole load of different problems pushed into one. So, if your child say had a chesty cough and poorly tummy, it could just be those alone, though it could also still be CF. I panic everyday about my nephew, who has been tested for CF and is negative for any gene. Always coughing, breathing trouble, a lot of tummy problems, also he's tiny yet noone can ever find anything wrong. Also my half-sister, she has more time off sick from school than me and or my brother (also with CF) ever did, and she only has the one CF gene passed on from my Mum.

The only way you're going too know for certain is by going for the tests lke your nephew. It will put your mind at rest, that your children either don't have it. Or, that they are being detected for having CF, earlier than would have been, and so can get on the right treatment sooner.

Good luck with things
Gem


Moderator of the Cystic Fibrosis Forums
 Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild Liver Cirrohsis, Mild Osteopenia, Erythema Nodosum. Waiting for final diagnosis on Muscular Dystrophy type symptoms.
 Medication: Creon 10,000, Flucloxacillin, Vitamins A,D+E, Serevent, Salbutamol, Paracetamol, Ondansetron, Nefopam, Ursodeoxycholic Acid, Saline neb/PEP system, Mirtazapine,slow-sodium, Skandishake and Fresubin.
Had a Port-a-cath fitted on chest wall since Nov 05
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Concerned aunt/mom
New Member


Date Joined Jun 2008
Total Posts : 5
   Posted 6/9/2008 7:21 AM (GMT -7)   

Thanks!

My nephew goes in for more testing this week and hopefully we will get more information.  It is just so hard waiting.  My sister has two boys, the one with CF and another.  The second doesn't want to be tested even though he too shows similar signs.  Ignorance can be somewhat calming.  He is 21 and isn't ready to face things.


Smith120
New Member


Date Joined Dec 2006
Total Posts : 6
   Posted 6/18/2008 3:38 PM (GMT -7)   

Hello.

I have posted questions on other boards but read your notes about your nephew diagnosed at the age of 22. I was wondering what his symptoms were that lead to his diagnosis?

I am 29 and have had lung problems all my life, ranging from pnuemonia at pre-school through to infections that have caused me to be hospitalised over 20 times, requiring IV amonophylene and antibiotics plus sabutamol nebules. It was always believed that I had asthma although I now doubt this as I never have attacks just chest/ sinus infections every month. I also have hardly any allergies. I had sinus surgery last year and they found nasal polyps but the surgery has helped very little.

I have suffered with constipation all my life since a baby and also have chronic Acid Reflux. I was first admitted into hospital for failing to thrive as a 2 week old and have been small and underweight all my life.

I am now trying to press for a diagnosis in case this could be mild CF but am actually quite scared to mention it!

Can you tell me how your nephew was diagnosed so I know what tests to ask for?

My doc said I could have bronchiectasis but a low resolution scan did not reveal this.

 

Thank you


Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 6/18/2008 11:06 PM (GMT -7)   

Hi there Smith,

I know of 2 other tests you should be able too ask for.

The first is the sweat test, people with CF sweat 100% more salt than the average human, making a sweat test very accurate in diagnosis.If the concentration of chloride is >60 mEq/L, the test is positive; 40-60 mEq/L is borderline; <40 mEq/L is negative.

The second is a blood test. I believe this is less accurate. It involves taking blood and looking for the 2 copies of the CF gene. However there are many different mutations of the gene, and they can only actually spot like half of them too date.

Some of your symptoms do sound similar too symptoms of CF. However, it could just be that you've had bad luck,and had all the symptoms, yet don't have CF itself. Bad luck-because it obviously makes treating you a lot more difficult. Sinuses I know of a few people with CF who have has nasal polyps, and have had too have an op. Pnumonia-not heard of too many people with CF getting it. We were once advised too get the vaccine as we were more at risk, but since it's being decided it's the same risk as "normal" people. Acid reflux can be a CF symptom, but then, I think most people can get it anyway.


The one symptom I would say sounds least likely, is the constipation. Because it most people with CF, the chloride channels are blocked in the pancreas, meaning mucous builds up there, the same way as it would in the lungs. This blocks important enzymes getting through, meaning food cannot be digested, meaning it passes straight through. More likely causing very bad diorrhea, with greasy and floaty stools. You will find most people with CF, are on an enzyme supplement, like Creon. These put the enzymes in there, so food can be digested. I know personaly if I miss one dose of creon with a high calorie meal. I end up paying for it, by spending the next day running too the toilet.

However you could be one of the few that are pancreatic sufficient, meaning you don't have a blocked up pancreas so enzymes in your body work. The constipation thing could be another problem entirley.

You're right in thinking the best thing to do, is too mention your concerns and ask for testing. The earlier you are diagnosed with CF, the quicker you can be put on meds too make you feel more comfortable.

Concerned aunt/mom- How have the tests gone, have the results come back yet? I hope things have gone ok, and it turns out none of your family has CF. Hope you're all doing well!

Best Wishes to you both!

Gem

XxXxX



Moderator of the Cystic Fibrosis Forums
 Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild Liver Cirrohsis, Mild Osteopenia, Erythema Nodosum. Waiting for final diagnosis on Muscular Dystrophy type symptoms.
 Medication: Creon 10,000, Flucloxacillin, Vitamins A,D+E, Serevent, Salbutamol, Paracetamol, Ondansetron, Nefopam, Ursodeoxycholic Acid, Saline neb/PEP system, Mirtazapine,slow-sodium, Skandishake and Fresubin.
Had a Port-a-cath fitted on chest wall since Nov 05
Help support the forums so we can support you:  http://www.healingwell.com/donate
 

Post Edited (Darkies Gem) : 6/19/2008 12:10:06 AM (GMT-6)


Concerned aunt/mom
New Member


Date Joined Jun 2008
Total Posts : 5
   Posted 6/20/2008 12:30 PM (GMT -7)   
Hi!

I understand being scared and yet wanting answers. Lots of times it is hard to ask the questions, because we aren't sure we want the truth.

My nephew has been struggling with pneumonia and bronchitis for over a year. Continual cough and trouble with digestion, along with weight loss. He did have symptoms as a child that follow CF signs, but I'll be the first to admit it is easy to take a lot of the symptoms to far. That is why CF is wrongly diagnoised or for the same reason not diagnoised. The only way to know is to get tested.

My nephew's regular doctor kept treating the symptoms and not the cause. He has been on antibiotics and cold medication for almost that entire year. He too was treated for allergies. It was a chest x-ray that was the first sign of CF. They said the chest x-ray showed that it was not just fluid in his lungs, but mucus. From there he was sent to a specialist. He administered a sweat test. The first test was positive. However, things are in limbo now. His second sweat was negative and so was his blood test (but that is not uncommon). So now they are saying it is not CF, but not for sure. He goes back for more testing next week.

All I can say is keep pressing. You need the answers no matter what they are. A sweat test is the way to rule out or find out if it is CF.

Good Luck!

As far as my family, we are waiting for those answers. When they determine what is wrong with my nephew if it is CF or not we will deal with it. Then we will determine if testing for his brother or any cousins is needed.

My prayers go out for all of you.
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