R117h + ivs8-5t/78/9t/7t

A

adamgreenberger

Guest
We got a phone call from the hospital where my two week old daughter was born...they said that he CF test came back positive with this info R117H + IVS8-5T/78/9T/7T...

Can someone please help me figure out what this means? They were no help over the phone. My wife is a carrier of CF, but not sick at all...we told the baby's pediatrician about this and she said not to worry about a sweat test yet, but now the hospital wants us to have one!

Any help would be great!
 

Aboveallislove

Super Moderator
Dear Adam,
I am so sorry for the anguish and worry you are going through now. We got that call when DS was about the same age, but with dd508.
I cannot tell if that info means she has one or two mutations. In other words, I don't know if the IVS part is a descriptor of the R117H. I'm thinking it might be given my quick google made it look like it is an issue with various mutations. (http://www.clinchem.org/content/50/10/1837.full

If she has two mutations, then the question is whether they are both considered "disease causing." But even with only one mutation, it makes sense to do a sweat test to determine if maybe she has some untested for mutation. Newborn screens only for a few but the number who have 1 mutation (as opposed to 2), is I think like 1 in 20ish, compared to 1 in 3000ish. So I would call back tomorrow and just ask if the results mean she has 1 mutation or 2 mutations. Your GP might be able to help if the hospital isn't. Also, make sure the hospital has an accredited CF Center for the Sweat Test and if you have to ask them as they schedule to please have a nurse or doctor call just to let you know if it is one or two mutations. If it is one, then I would say, you definitely need to do the sweat test but don't panic. If it is two, the thing you need to know is that R117H is a "milder" mutation and there is already a medicine available for her when she is 2 that helps fix it to work...not properly but really well. And in 5 years there'll be even better meds and by the time you're welcoming beaus with a shotgun above the mantel for her dates, they may well be able to splice out the "bad" gene.

I'm sorry I can't tell you whether that means one or two mutations and hope someone else might be able to. Please let me know if anything I wrote doesn't make sense.
Take care and please know of my prayers for your family during this hard time.



We got a phone call from the hospital where my two week old daughter was born...they said that he CF test came back positive with this info R117H + IVS8-5T/78/9T/7T...

Can someone please help me figure out what this means? They were no help over the phone. My wife is a carrier of CF, but not sick at all...we told the baby's pediatrician about this and she said not to worry about a sweat test yet, but now the hospital wants us to have one!

Any help would be great!
 

Ratatosk

Administrator
Staff member
A lot of times, teeny tiny infants have difficulty producing adequate sweat for a sweat test. DS had one at 3 weeks and it ended up being normal despite genetic testing shoring ddf508. I recall his doctor at the time saying, I don't know why the hospital insisted on doing a sweat test, as we already know he has cf.

being they've indicated positive for cf via blood tests, I believe the next step would be referred to an accredited CF clinic. They would better help determine a course of treatment, if the genes are disease causing....
 
J

julieta79

Guest
As you might know by now, 5t and R117H could be on the same allele (which would mean your daughter is completely healthy), or on the opposite allele. In the second case, she would be considered "CRMS". The R117h and 5t are the mildest mildest mutations you can have, so two very mild mutations...she should be almost completely healthy. i can bet her sweat values would be quite low. Something in the 20s or less. They will track her for several years to make sure everything is going ok, but I don't expect that she will have any significant issues. On top of that, there is a drug that works on R117H and on 5t (Kalydeco), so I would not lose much sleep. Enjoy your little baby!
 
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