Advice needed

[Gibson75]

I have posted on here previously as my now 4 old son has continued to have cf symptoms even after repeated negative sweats. He was dna tested
The result reads he is heterozygous for;c.1521_1523delCTT (p.Phe508del), andc.1584G>A(p.GLu528Glu) mutations. (This mutation is listed as not disease causing however is known to impact the pancreas).They also found sequence variants of limited or no known significance;c.744-31TTGA[5]+[6]c.869+11C>Tc.1210-12T[7]+[9] (PolyT 7T/9T)c.1766+152T>Ac.2562T>Gc.2909-92G>Ac.3469-65C>Ac.3874-200G>A
So over the past 4 years he has cultured Heamaphylis influenzae, Staph A twice and most recently Pseudomonas. He has previously tested borderline PI when a toddler after getting odemas from hyperprotein anaemia. He has been on and off enzymes (currently off) and either has diarrhea or is constipated suffering from stomach pains. He has a chronic cough but some days less noticable than others. His recent chest xray showed minimal bronchial thickening and his bloods showed high IgG levels. I'm concerned the doctors aren't taking him serious enough as they don't beleive he has CF as his sweats are negative (16). They see him once every 6mths but I feel that is just to keep me happy.
My concern also is his brother exhibits similar symptoms but less severe with only a daily cough and one pneumonia. His sweat tests both have been 30 which up until the recent changes in the new borderline limit was believed to be negative. He has never been dna tested.
At the time my youngest son was dna tested they said his dna couldn't be tested for deletions however this may now be possible. Has anyone experienced mutations being found on a second dna test involving deletions. Is it worth chasing up?
I was also of the believe it was very rare to culture PA without having a chronic illness or in hospital. His CF doc said it was rare but I feel combined with all his other symptoms it would be an indicator of CF. His lung function tests always come back normal, however he has also suffered sinus issues (runny or blocked nose) and when he had his adenoids out at 1, the surgeon was shocked at how much mucus he found. His first cousin has CF with 2 df508 mutations.
What advice can anyone give?
Thanks, concerned mum.

 

[AleksandraKaczynska]

There are CFTR subsidiary disease which means your child can have some to milder symtoms or primary ciliary dyskinesia. Lack of pneuminia or not needed ezyms are not an argument. My Daughter is 9 and has never needed enzymes as well as has never been hospitlized or had pneumonia. I have no idea how it works in US, but here kids with do hget two muattaions and one of them is not exacly CF but is suspected of giving some symptoms are under the care of the cf team for some year and have a second sweat test done around their 2 and 5 birthdays. Also they are chequed if they do not have primary ciliary dyskinesia.
My daughter does not need enzymes but has problems with diarrhea if we do not watch out what she eats - it's also typical for cf as the colon takes in too much water - due to cf.
Good luck

 

[Aboveallislove]

I'd suggest trying to see another CF specialist and explain your concerns and push to have both tested genetically and sweat test and treated as per CF because obviously they are having issues, even if it isn't "CF" the same issues. Hugs and Love

 

[Kristan]

Check into PCD - Primary Cilia Dyskinesia. There is a consortium headed up by UNC - University of North Carolina Chapel Hill that is doing genetic mapping and studies on respiratory diseases. You can contact the study coordinator with all your DNA info and they will let you know if your child would qualify. Definitely may help clarify what is going on.

 

[Gibson75]

Thanks all for your advice. I'm in Australia and my son has been tested for PCD and everything else - all negative. He has also undergone every allergy test with a negative result. I will speak to the CF doc at his next appointment and push for further DNA tests. He has had at least three sweats and all have been under 20. I guess I was of the believe to culture symptomatic PA you had to have CF or another chronic illness?

 

[Ratatosk]

Being that he has symptoms and cultures typical CF bugs, I would push to have him treated for the symptoms. Antibiotics for the specific drugs, chest physiotherapy (CPT) to keep his lungs clear, nebulized medications -- bronchodilators to open up the lungs to help clear them, dnase/pulmozyme or mucomyst or even hypertonic saline to help liquefy said mucus.... If he's got issues with loose stools and if they haven't done so, see about having a fecal fat test done to see if he's pancreatic insufficient.

If they won't commit to a cf diagnosis --- the DNA testing showed two mutations correct, it's the sweat tests they have issues with --- then tell them something isn't right, point to the other symptoms and indicate you'd like him treated for those. CPT is a relatively simple way (doesn't cost a thing to do 15-20 minutes of 'pats' to clear mucus -- ask that a respiratory therapist or someone teach you how to do this.

 

[Ratatosk]

Oh and I see has sinus issues. If he's old enough, have him do sinus rinses with warm saline water. In the states most pharmacies and even big box stores have kits with a bottle and saline packets. My son has been doing this since age 4. His nose never ever runs as his sinus mucus is very very thick.

 

[Aboveallislove]

I agree. If they won't do the CF diagnosis, maybe come at it from the angle, well we don't need a diagnosis, we need treatment whatever you call it, his body isn't working properly and then attack as Ratatosk said above.

 

[Printer]

Gibson:

There are almost 2000 known mutations, any two will cause CF. In the US is is usual for limited testing to be done at first. They test for 32 most common, then for 250 etc. Your children should be tested for every mutation. Request a FULL CYSTIC FIBROSIS SEQUENCING.

Bill