4 month old exhibiting pulmonary CF symptoms, R117H and DeltaF508

[Krissy Klinovski]

I am hoping someone can offer advice. When I was pregnant. I found out my husband and I were both CF carriers. I carry the R117H gene while he has the DeltaF508 gene. We decided not to do amniocentesis and to wait till our son was born to find out if he would have what we were told would be a more mild form of CF.

Our son was born in October. Healthy, great APGAR score. Newborn Screening was done. We never heard anything back about it. We get military post treatment, as my husband was in the military. I requested the results of his newborn screen from the multiple pediatricians we have seen (We see a different one each time we go in.) all the peds keep telling me is, we would have be notified if he had CF. So I am guessing his newborn screen was negative for CF.

Well now he is four months old, he has been sick since birth. He developed RSV at 6 weeks old. He's had chronic breathing issues. Always congested, grunts or moans loudly when exhaling, coughs frequently. He doesn't seem to be getting better. I keep taking him in to be seen at the on post pediatric clinic. He is gaining weight normally so they keep dismissing me as an over worried mother. However I was told that the R117H mutation (without a 5 or 7 T variant) will not likely cause pancreatic problems and "failure to thrive", that is typical of classical CF. I have explained this to the head of the pediatric clinic here, and asked for further testing to be done. He basically told me that if it did not show on the newborn screen, it's highly unlikely that my son has CF.

This isn't my first child. I have a 6 year old from a previous marriage, so I've delt with my fair share of common colds and congestion. I know something more is wrong with my son. He is weezing, always congested, and this grunting noise he frequently does, either after a coughing fit, or when exhaling isn't normal. I have taped it. The link is included below. If you can't see it let me know.

https://www.facebook.com/photo.php?v=4071164272810&l=8916862876414370145

What I am wanting to know is: Is it possible he does have CF and the newborn screen missed it? How do I go about convincing these doctors to re-test him? Has anyone else noticed this kind of a grunt/moan in their baby, is it common with CF? It sounds to me like he is trying to get mucus up and out of his airway, or has a restricted airway.

 

[Aboveallislove]

Oh mom I am so sorry. I have no idea what the newborn screen tested. Get the states number related to newborn screening and call immediately and ask what they tested for and the results. And I'd also call a cf clinic search cff and speak with the cff center directly asking them if you can get a sweat test if you can't get answers from screen and or have post just do a blood draw and test for those mutations.

 

[Aboveallislove]

Ps sorry wasn't clear...states test for different things so yes they might not have tested for those mutations

 

[Aboveallislove]

I just checked your profile and assuming you are in Georgia it looks like Goergia screens for a high level of IRT and ONLY if that is high do they test for the presence of CF mutations (it is unclear which ones and whether it would include R117h). SOOOOO, I would call the Georgia Department of Public Health at 404-657-6357 and ask them to give you the results or fax them to your doctors ASAP (have the doctor's fax ready) and ask if they tested your baby for IRT only (results) and mutations (results). And then assuming they did not test for mutations you/dh are carriers for, I would immediately insist on a blood check of baby for the two mutations because it is possible that your little one didn't have a high enough IRT level to trigger the check. Or that it was a false negative. I hope it isn't CF but you need to make sure.

 

[ymikhale]

The only way to be sure is to check for those mutations: you are "lucky" to know which ones you and your husband have, so ti must be relatively easy to run the blood test. If your baby's doctors refuse, ask them to put in writing that in spite of the respiratory symptoms and the fact that both parents are carriers they refuse to pursue further testing.

 

[Meabtahi]

I have a 3 month old little girl who was born this the same mutations so we have done a ton of research on this combination. R117h is a more mild mutation and if you live in a state with higher test levels it's very possible something was missed. Our state has extremely conservative newborn level screens and our daughter kept testing in he middle. It required a full blood panel run for a propor diagnosis as even the sweat test was indeterminate. However, what you must know is what t variant is associated with your r117h. Each person has a poly t variant on the gene that works in combination with your mutation. There is 5t, 7t, and 9t. You and your baby do have one of these as well, it's impossible not to - this is not necessarily a mutation, just part of the genetic code. The way our cf clinic described it to us if it is 5t then it is considered a mild form of cf, 7t is crms and likely asympotmatic, and 9t basically a carrier. Our little one is 7t and shows no symptoms. She has a normal baby cough from time to time but it sounds nothing like yours. No congestion. I would find the nearest cf center to you and call them directly. Do not go through your pediatrician - they honestly tend to be fairly unfamiliar with cf which is why it requires a specialist. We have had to educate our ped a lot on our daughters mutations. It's just not worth going without treatment if it's needed. Our daughter is not on anything but they are still monitoring her every 3 months. You definitely need to have someone test him as the problem will only escalate if it is cf related.

 

[CFParent2]

My wife and I are both carriers R117H/DF508, although I am not sure which variant of R117H. Anyway, one kid has be DX with CF other is a carrier with R117H. Carrier(only R117H), has worse pulminary function (PFT's) than the kid with CF, due to asthma. It is pretty common for carriers to have some pulmonary issues like asthma. Even if it turns out your 2nd does not get dx with CF it is possible they will have some pulmonary issues.

A drug company just did a study with R117H and Df508 combo. The good news is that their sample of kids under 12 had an average PFT was only 5% below normal. Typically significant CF symptoms are delayed. That said early treatment is important because it delays the onset of significant symptoms later in life.

 

[Krissy Klinovski]

I called my OBGYN from FL and had her send the paper work from 2007, when I had my first son and found out I was a carrier. I was informed today that it was R117h /5t.
I am going to call the Dept of Health in the morning and ask for the results to be faxed. I will also request the doctor do a blood panel on my son. I am bringing my husband's and my paperwork that confirms we are both carriers, and the printout we were given by the genetic counselor. Hopefully that will be enough proof to prompt them to do something. The way our insurance works, they have to refer us to see any type of specialist. We can't see a CF specialist without a referral. So I am hoping I can go in there and educate this pediatrician, so that they will co-operate and either run a simple blood screen, and/or get us a referral. Better safe then sorry.
Thank you all so much.

 

[Printer]

It is important to understand that there are almost 2000 known mutations, any two will cause CF. It is also important to understand that there are many levels of CF screenings. Newborn screenings are usually ONLY for the most common 32 mutations. More extensive testing is ONLY for the most common 250 mutations.

We now know that you and hubby have one mutation each but we don't know if either or both of you have a second mutation. You each need to have a FULL CYSTIC FIBROSIS SCREENING.

Bill

 

[Aboveallislove]

Bill, maybe I'm missing something but if either has a second mutation then they would h ave cf. possible but absent lifetime issues I'd say very very unlikely....so I'd focus on testing these two mutations and not push for ask for more now or the drs will be hesitant to do anything. If no on the mutations, a sweat test at an accredited cf center with history would make sense to see if poss a second mutation or cf with only one. But I don't see any insurance paying full screening under her case absent sweat test high or a doctor ordering. Just don't want mom to worry or push this now. Also FYI you can search to see what was tested. Georgia tests irt only unless high and then select mutations. So finding out if they tested any mutations and which is first step. I'd then want recheck for two mutations to assure no false neg and then possibly sweat test.

 

[CFParent2]

It is important to understand that there are almost 2000 known mutations, any two will cause CF. It is also important to understand that there are many levels of CF screenings. Newborn screenings are usually ONLY for the most common 32 mutations. More extensive testing is ONLY for the most common 250 mutations.

We now know that you and hubby have one mutation each but we don't know if either or both of you have a second mutation. You each need to have a FULL CYSTIC FIBROSIS SCREENING.

Bill

This makes sense unless the newborn screening comes back with the two known CF genes.

 

[Printer]

Love:

This Mom is 28, many of us are Dx well after the age of 28. She talks about a "simple blood screen", I believe that she should be fully informed and not be mislead as to the "quality" of the testing that has been done.

FYI the test was done in 2007 in Florida.

As you know, I don't believe in "PUSHING DOCTORS FOR TESTS". I do, however, believe in being informed.

Bill

 

[Aboveallislove]

Hey bill, totally agree that it is important to know it doesn't cover all mutations and that many diagnosed later, but absent issues for folks probably unlikely and not place to start. The 2007 test was hers following first child. I think given babies age likely newborn screen was in Georgia where profile is. But all good info for her.

 

[Printer]

Her question was "could my son have CF and could something have been missed on the newborn screening". The answer is HELL YES. 32 out of almost 2000 and making a decision based upon that??

The world is full of Doctors who cant spell CYSTIC FIBROSIS much less DX or treat it. I would "PUSH" for a REFERRAL to a Approved CF Clinic. Based upon both parents being carriers, anything less would be malpractice.

Bill

 

[Printer]

CF Parent 2

At this point in time, we don't know if either parent is showing any symptoms. We also don't know what type of screening either had to discover their mutations. It is important that they understand that it is still possible that either or both of them could have CF. When people are told that they "are only a carrier" after being screened for only 32 mutations, the medical profession is giving false information and possibly false hope.

Bill

 

[rachelh79]

My daughter (8 weeks old) has delta F508 and R117H, but the 7T variant, according to her newborn screen. She is being treated at a CF Clinic and we are doing manual CPT and salt replacement therapy right now. I think it would be worth the blood test to find out if your son has the mutations you and your husband carry! I thought this chart was helpful (in the link below) and it says that the 5T variant is likely to be disease-causing.

http://www.cftr2.org/r117h.php