How positive have the tests been?

[iwuvwoo]

My son is 7 weeks old. He had a sweat test two weeks ago and it came back at 81. since then, his other tests results have been as follows:

Throat culture - normal
pancreas - well above normal and dont need to give him the creon anymore
live level - normal
white blood cells - normal
chest x-ray - clear
all other blood levels - normal.

we are waiting for them to finish the genealogy on his blood to find the other mutation and go back on wed for another sweat test.

how likely is it that he doesn't have CF or is just borderline?????

 

[Printer]

81 is not borderline. GENERALLY speaking, anything equal of over 60 would require additional testing. I know that it is difficult but you need to wait for the genealogy to be completed.

 

[iwuvwoo]

I know 81 isn't borderline, I was meaning for his second test next week to come back borderline. I apologize I should have explained that better.

 

[Aboveallislove]

Mom,
I am so sorry what you are facing. I doubt that the retest would show up as borderline and frankly if it did I would still want them to treat for CF. But with the lower Sweat # (still definitely positive but lower range) and that he is pancreatic sufficient, it likely means he has a "milder" second CF mutations (I'm assuming the first is df508 if they know it already), and for those milder mutations it is likely already a drug that can help his CFTR gene function about 50% and soon to 80% (by the time he is 5). So while you wait and worry, remember that it is likely going to be a "better case" scenario, and once they know that mutation post and I can update re the medications that help fix the function. In the meantime, I am assuming you are seeing a CF doctor at an accredited CF center and hopefully is either already doing a bronchial dilator and chest percussion or if not that the next check up they will get you going on that to keep him as healthy as possible. hugs and prayers,
Love

 

[iwuvwoo]

Thank you so much for your comment. That honestly did make me feel better. I will keep you posted as we are going this wed for the second sweat test. (he is going to childrens hospital of Detroit)

 

[JustaCFmom]

I didn't have to face this news with a newborn. How overwhelming!

My daughter got diagnosed at 15 and only thanks to a shrewd pulmonologist. She just started coughing at 14 and coughed and coughed for a year until she got the CF diagnosis. Her cough cleared up once she got the proper meds and treatment to support her lungs.

Her diagnosis prompted us to screen the entire family. My then 8 year old had always had a runny nose and had needed inhalation as an infant. He was lucky. Her diagnosis means getting top medical care. He still has some brochiectasis, but his lung functions are fantastic.

They have "atypical" CF because their pancreas works. They are all very active and my 24 year old son is due to become a father in a few months!

I remember the doctors telling us that our daughter would grow old and become a grandmother! Cystic fibrosis sounds so scary in the beginning. I did a lot of reading and found this forum.

Good luck and just enjoy your bundle of joy!

 

[iwuvwoo]

They just found the other mutated gene that my son has. It is the gene c.3140-26a. So of course now I am trying to find out what that gene entails as well as what Class V means. But thank you for the kind words and support!

 

[Aboveallislove]

I'm sure it doesn't feel like it now, but your son is one of the "lucky" cfers...as it appears that second mutation is a residual function one. I believe the legacy name is 3272-26A which means it is being studied for a combo to fix the cftr.

http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=435. Shows legacy name

https://tools.cff.org/Display/dsp_ClinicalResearchHTML.cfm?id=406

Shows current study.

and more importantly, the FDA s possibly approving kalydeco alone for his mutation in February, although he wouldn't qualify until two.

http://investors.vrtx.com/releasedetail.cfm?ReleaseID=935666

so your job is to keep him health as possible until two...this drug could get his cftr function to 50% and the 661 trial combo on going to 80%.... He is truly lucky...

let et me know if any of this doesn't make sense. Hugs and prayers.
love

 

[iwuvwoo]

Oh wow!!!! Thank you so much for this response!!! At first I didn't understand what you meant by residual function or combo to fix. You are awesome for sharing this!!! definitely hugs and kisses sent your way!!!

 

[iwuvwoo]

I know this is going to sound odd... but can you "dumb" this down or put into layman terms? I would like to share the info with family but an sure a lot wouldn't understand these terms.

 

[Aboveallislove]

Absolutely! I'll "draft" something that you can share with your family that would be like what I share with ours (but obviously tied to yours). Might be a day before I can though.