Testing to rule out CF - need support

[heatherlyn14]

I'm sure a lot of these types of messages get posted here, but I feel alone and could use some thoughts, support.

A history of my son (I'll try to be as concise as possible) - I have a 22 month old son (newborn screening negative, my prenatal screen showed that I am not a carrier); since birth he was always stuffy and drooled a lot. Other than that, he was healthy - didn't get sick.
At 12 months he developed a cold that wouldn't go away. After 2 months and 1 round of antibiotics (amoxicilin) for ears, his sinuses got so bad. he was unable to breathe through his nose at all, stopped nursing. The doctor saw what she thought looked like a nasal polyp so she referred to ENT and allergy testing. Allergy testing was all negative
went to ENT and had a culture grown. Showed high levels of strep and haemophilus. They put him on 5 shots of rochephin and 14 days of zithromax. After this, they swabbed him again and the culture did not grow anything. he still had stuffiness but no major issues. was well July, Aug, Sept. Then he started developing virus after virus in October. He has been sick every month since. Always this THICK white mucous (and just in the nose, lungs have always remained clear). He's been on antibiotics twice. I do everything I can to keep the secretions thin (saline, humidifier) and everything I can think of to boost his immune system (vitamin D, probiotic, fish oil, etc) He's just not getting better.

In addition to the sinus issues he has growth issues - as a breastfed infant, he grew like crazy - he was a chubby baby. After he turned 1 year old, his growth slowed a lot. He has not gained in height or weight since October.

He has 3-4 bowel movements per day, they are very smelly and semi-formed, but I don't think they look greasy. He seems to be hungry and wanting to eat all day, but he's also extremely picky and doesn't eat much substance.

It's hard to know if all of this is CF related or a simple case of a kid who is run down from illness and can't seem to get well. this winter has been one of the worst for illness and our doctor thinks he's just getting run down. She also thinks the illness, along with his picky eating is the reason for poor growth. She did also finally decide to refer for CF testing just to rule it out. I think this is more for my peace of mind than anything. They are working on the referral process now, but I have not yet heard when the appointment will be. He will be going to an accredited CF center.

I feel like I have no one to talk to - people think I'm crazy and are trying to be helpful by saying "He's fine, he just needs spring to come, etc, etc"

I would appreciate any feedback, support, advice, etc.

Thank you!

 

[Printer]

There are almost 2000 known mutations, any two (2) will cause CF. A newborn screening is only for the most common thirty nine (39) mutations. Your prenatal screening was for less than 100 mutations. Forget those tests.

Having said that, from your post, I don't see anything jumping out at me that would scream CF. Be thankful that you have a Doctor who wants to "cover all of the bases".

Bill

 

[Ratatosk]

When they did carrier testing, how many mutations did they test for? There are over 1500 cf mutations and usually testing is only for the most common mutations. DS never really had greasy stools, but his were loose, fluffy like cake frosting and usually yellowish, smelled like feta cheese -- which made sense being he mostly subsisted on formula for the first 18 months. His nose never ever runs due to the extra thick mucus -- we had to use saline spray and the dreaded bulb syringe to keep his nose clear so he could breathe. He really didn't have any lung issues, although cultured H. flu and pseudomonas from about age 3 months. The H. Flu went away when he was put on zithromax at age 2 1/2.

I would push for testing, not just a sweat test or basic panel. Also I would suggest they do a fecal elastase (poop test) to see if he's malabsorbing fat.

 

[JENNYC]

I'm not sure where you live or if this is everywhere or just good old Texas, but I will say that this year has been extremely horrible with the cold fronts making everyone in town ill with sinus mess. That being said I would want to rule out CF. If they do a sweat test make them tell you the numbers, not just it was normal or it was borderline....you want real numbers... and make sure they don't duplicate the test that was already run on him from the newborn screening like they did my friend. I would get a copy of his test results from the newborn screening to take with you so hopefully they can skip the initial trying to screen for 39 mutations and jump right to the full panel screening. I hope it is just the crazy weather we're having. Good luck and keep us posted.

 

[heatherlyn14]

thank you so much for your feedback. Its much appreciated. We are in Nebraska and the weather here has been up and down and since dec, the illness around here has been awful. the nurse at our office said its the worst she has seen in 12 years. his problems did start well before this, but he did have a few months of being healthy.
when you go in for a sweat test, do they typically only do the sweat test? If I want these other tests (full panel, fecal tests, etc) do I need to request them? thanks again for your advice and support!

 

[Ratatosk]

Are you just going in for labs or are you going to see a doctor as well? They'll probably just do a sweat test, since it's less spendy than blood testing, let alone a full panel. IMO, discuss your concerns with the doctor and see if they can do a fecal fat test, another culture to see if he's growing any common cf bugs. Push for answers as there's something going on with your child and if not cf, then what....

 

[heatherlyn14]

We are being referred to the CF center at Children's hospital for testing - not sure if this is just sweat test or blood testing, etc. I wrote down all of these suggestions and will discuss with our doctor when I follow up with her next week. I believe the doctor also wants to test him for IgG IgA immune deficiency. Given his lack of growth, I think a fecal fat test would be good. I feed him an extremely high fat diet and he still doesn't gain anything.
This is just all so confusing, I just want to figure something out for him.

Thanks again so much!!!