Update on cystic fibrosis screen

meabtahi · December 2013

First I would like to thank everyone for their throughts and prayers this past day. We had her sweat test done today. Unfortunately, the test was inconclusive so now we are waiting 4-6 weeks while they test her blood for the gene mutation. We are seeing a pediatric pulmonologist Monday to make sure she is progressing okay and not showing any other symptoms. Needless to say this is an extremely nerve racking time and no one can give us any real answers. I am trying to be at peace with everything and just enjoy this precious time with her.

PeachyBella · December 2013

Thinking of you and your precious daughter. Can't imagine what you are going through, but know that no matter what, she's lucky to have such a good, caring mom. Hang in there.

bglovesbabyk · December 2013

I know there aren't words to ease the stress you must feel, but just know you are in my thoughts. I will be praying for your family.

McJen715 · December 2013

I'm sorry the results today were inconclusive. More positive thoughts to you while you wait.

lmcgt · December 2013

Prayers for you and LO!

[Deleted User] · December 2013

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Eshirley26 · December 2013

Praying for you & your family. I just can't imagine the worry you must be feeling...

Princess_Lily · December 2013

I'm so sorry you and your family are dealing with this.

I'm praying for her, and you... keep us posted please.

mmm50 · December 2013

We're in a similar situation- sweat test on Monday. It's very nerve wracking-- and the waiting is the worst part. Many thoughts and prayers to you and your family.

JaysonandKristin · December 2013

Your family and the family of @mmm50 are in my thoughts. I hope you all keep us posted.

Qston · December 2013

Thoughts are with you! That has got to be both stressful and frustrating to not have answers. Keep holding strong and enjoy your lil blessing!

[Deleted User] · December 2013

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Edvoncupacake · December 2013

My thoughts are with all of you that she's clear of CF. I can't imagine what this must be like. I hope you find peace and are able to enjoy her first Christmas season.

AngeliaG8 · December 2013

I'm so sorry your going through all of this! Sending good vibes and creepy internet stranger hugs! >:D<

mmm50 · December 2013

Did they tell you which mutation your LO tested abnormal for @meabtahi? The lady at the children's hospital told me what the mutation picked up in N's newborn screen was and what she knew about it (which isn't much because it's a rare one- especially for our area) and I was able to do a lot of research from there that helped put my mind at ease a little. Maybe it's worth a call to your pediatrician or the genetics center.

meabtahi · December 2013

Mmm50- apparently our state does things kind if weird. From what I know her newborn screen did not test for any mutation, just her IRT levels which were elevated. They redid this test and it came back abnormal again so that's when we did the sweat test which came back indterminate. I think it's likely she is at least a carrier but we were told we would have to wait to see if she had just 1 or 2 mutations and what they were according to the screen. Neither myself or DH has cf in our families and neither of us new we may be a carrier so this is all just a huge shock. May I ask if your lo has any symptoms or if this runs at all in your family?

dnt27 · December 2013

Thoughts and prayers for you and your family.

SamanthaPo · December 2013

Many thoughts and prayers are with your family and @mmm50 family. I'm sorry that you are both going through this. Keep us updated!

[Deleted User] · December 2013

I am so sorry to hear that your family is going through this. I am keeping you in my thoughts and prayers. Regardless of the outcome, it sounds like you and your H are very strong and loving parents and your LO is lucky to have you

mmm50 · December 2013

meabtahi said:

Mmm50- apparently our state does things kind if weird. From what I know her newborn screen did not test for any mutation, just her IRT levels which were elevated. They redid this test and it came back abnormal again so that's when we did the sweat test which came back indterminate. I think it's likely she is at least a carrier but we were told we would have to wait to see if she had just 1 or 2 mutations and what they were according to the screen. Neither myself or DH has cf in our families and neither of us new we may be a carrier so this is all just a huge shock. May I ask if your lo has any symptoms or if this runs at all in your family?

@meabtahi Yes, chances are (about 90%) she's just a carrier. I'm hoping that's the case for us too. Our LO doesn't have any symptoms, and it doesn't run in our family. Our state tests IRT levels, and if those are high runs the samples to check for the most common mutations (35 or 40ish of the 1800 known mutations). The test indicated he has one of them and luckily it doesn't result in CF as often as other mutation, and when it does it is usually a mild case of CF. But of course it depends on the other mutation if one exists. We know (at least if the newborn screen is right-- which I am skeptical about since they have him as a female instead of male-- it could be a typo or could be a blood sample mix-up) that he doesn't have the most common mutation that accounts for the more serious cases of CF-- so that's a relief. Hope we have answers soon!

mbafall09 · December 2013

So sorry you're going through this. Continued Ts and Ps for you and your family.

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