Heterozygous and borderline, but CF

[letefk]

First, thanks to all of you for your posts. I have just found this site, although my daughters were diagnosed over a year ago. I am curious to hear from anyone out there who has been diagnosed with CF, but is heterozygous. Both of my daughters (ages 5 and 2) have one delta 508 and 5T. The oldest has a borderline sweat (49) and the youngest a low normal (11). We have been told, and our research has confirmed, that they fall into a gray area, where the course of the disease (or even whether or not it is fully expressed) will depend on a bunch of modifying genes that they don't yet fully understand. So far, it is pretty clear that the oldest daughter has CF or CF-related lung issues, but no digestive issues (so far). She had her first hospitalization this spring, and has cultured for psuedomonas. The younger one, however, seems to largely have sinus problems, so we are still hopeful she will develop nothing more severe than chronic sinusitis. Although the genetic test results were identical, we know that that does not mean the expression of the genes will be the same.

Our frustration is that we can get no clear consensus on the appropriate treatment or label for either girl. As parents, we want to be advocates for both girls. We want to be sure they get aggressive treatment if needed, but also help them have the best quality of life they can. If any of you have advice, resources, or even just some perspective to offer on you own experiences with borderline cases, I would love to hear it.

I apologize if this topic has already been posted; I did search for the topic, but did not find one that matched.

 

[Ratatosk]

DS is homozygous delta f508. But my advice would be to be as proactive as possible. We were told that most CFers are born with normal lungs; however, with increased infections, stickier mucous, the lungs will eventually be effected. DS was born with a bowel obstruction, tends to have more sinus issues. But his doctors want us to do CPT 3-4 times a day to keep things moving. So keep those lungs healthy. Try to keep their weight up.

With the Tobi and pulmozyme, sounds like your doctors seem to be on top of things. Are you going to an accreditted CF facility? With the CF diagnosis, I would hope and think that your clinic would treat the CF and not mess around with what ifs, etc. Even with the more common mutations, there are a wide variety of symptoms. L

 

[letefk]

Thanks for the sugggestions. We have been told the same thing about the need to be proactive to maintain normal lung structure, and we have really tried to take that to heart. We have been to two clinics (both accredited). One seemed to get really hung up on the label (was it CF, was it not) and the other said, since she shows partial symptoms and early treatment has a huge impact, we better treat as if. We stayed with that clinic, because of the data on early intervention and long term prognosis. Also, since our oldest daughter was 3 1/2 on diagnosis, we had a history that told us that every cold went straight to her lungs and stayed there, and turned into pneumonia if we let it.

The problem now is that our youngest (also heterozygous for D508 5T), who is not symptomatic, except for mild asthma, GERD, and sinuses (all of which run in the family and are linked to CF-related mutations, of course) has cultured for pseudomonas, and we have two different opinions on how aggressively to treat her. She is only 2, so we don't know if she will take a different path (this genotype can express as sinusitis and nothing more, or as full out CF). And there is always the concern of resistance, especially with the two girls and cross-contamination issues. If the youngest does not NEED to be on tobi, then we should wait. She has never even had a CT scan, so we don't even have evidence that there is any mucous plugging. One doctor wants her on tobi, the other wants a CT scan first, to see if there is any evidence of mucous plugs. It seems like no one is really sure what the best course is, and I am curious if there are others out there with similar "grey areas."

 

[bmombtoo]

Letefk.<br>
I know how you feel......we had our first visit yesterday. I posted
it a few minues ago.

 

[letefk]

There certainly is a parallel; I will respond in the thread to your post.

 

[Alyssa]

If you are interested you could read my blog about my kids mutations, sweat tests and health.

Did I understand you correctly that the 2 year old, with the sweat test number of 11 also has psuedomonus? Is that why the doctor wants her on tobi?

I agree that proactive & preventative treatment with a watchful eye is the best way to approach their futures.

 

[letefk]

Thanks. I will look at your blog. The 2 yr old has cultured twice for very small amounts of psuedomonas. Since the amounts are so small, and her sister has also had psuedomonas results, the question is whether this culture reflects bacteria in her LUNGS, or trace amounts due to routine exposure (the area we live in has one of the highest exposure levels of the particular variety of Ps. that she cultured for. One factor in the decision, we just learned, is that the amounts between the two cultures actually decreased, even though she was never treated after the first culture. (By the way, we were never TOLD she cultured the first time. We were shocked to discover that this was the second time it had shown in her results.)

When the oldest was first cultured for it, they treated with an antibiotic then they did a brochioscopy and levage to see if it was still in her lungs. It was not there. But they also already had evidence of mucuous plugging, so they were certain, between that, the bacteria, and the vulnerability to pneumonia, that her issues were caused by the heterozygous D508/5T combination. I think the issue with the youngest is that it is not yet clear if that same genotype in her is effecting the lungs. Two kids that had identical results from the Ambry, but so far, they are presenting very differently.
Basically, what it comes down to is that no one can tell us whether or not she DOES have CF (i.e. if she is one of those who will only become symptomatic later in life). The best answer is that we will know only in hindsight. <br><br>
We decided that we will go ahead with a CT scan of lungs and sinuses first, then meet with her new CF doctor to decide what the best course of action is.