Newborn Screening- NERVOUS WRECK PLEASE HELP!

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Worriedmotherof3

Guest
Hello,
I am new to this community and new to a health issue of this caliber. I guess my question for people out there is. I got a call from my doctor telling me that there is a more than likely chance my child has CF. I have two other sons who have not tested positive or even come up as a concern for CF. I have to wait for a swear test to tell if it is a yes or a no. They center is supposed to sit down with me and my husband and I have been worrying myself sick because I feel just so lost and stressed out over this whole ordeal. I just can't really get information that is completely accurate. Has anyone else been through this? Is it possible she could come up with a negative sweat test?
 
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Aboveallislove

Super Moderator
Dear Mom,
I am so sorry. We got that call from the state when our son was about a week old. They said "presumptively positive" for CF. By brother-in-law who was a doctor asked me to find out what the test results were specifically meaning whether he had one or two mutations. Basically, each state tests differently, but in general they test for some level of something (which might indicate CF), but also for a small number of CF mutations. There are about 2000 different mutations. They test for only the most common ones. When you are able to, I would call the doctor back and ask point blank: Did they test for mutations and what were the results? Did they find one or two? Our report said homozygous for df508, which means two copies of that mutation. There are some mutations that are considered non-disease causing, but the sweat test is needed to determine if it is or isn't. There are other mutations that are definitely disease causing. I asked everyone and no one would give me a straight answer--two copies of df508 meant CF. The sweat test can still come out negative, but if the mutations are disease causing CF Center will treat for CF.
But here's the deal: Your ped might not know all of this. He might have seen a result with one mutation and said more than likely. Or he might know what it all means and saw two disease causing. Either way you'd have a sweat test, which doctors treat as the "gold standard." But if it is to disease causing mutations it is very unlikely to have a negative sweat test and most doctors still treat as CF (there are some one here who had a negative sweat test.)

So, if I were me, I'd call the doctor this am and ask for a copy of the newborn screen faxed to you or go pick it up. You can post exactly what it says and folks can help you interpret it so you go to the sweat test understanding more. And we can let you know about the various meds in the works (more below).

I'm going to post in a second a link that walks you through the sweat test.

But first, I want you to know that what you are experiencing is exactly what I did. The fear, the worry, the questions. Our son has CF, but is doing very well. And is gushingly happy...the last three days of just plain old "normal" life he said each day "this is the best day ever." Also, something I didn't know right off but wish I had, is that there are exponentially greater advances going on for a real treatment and cure for CF. Depending on your blessed babies mutations (if she has 2!), there might already a drug that can substantially fix the CF gene. And there are others that are in the works and will be ready for her soon. We are waiting for the one for our son that should be ready next year and better drugs are hitting trials next year.

Please know of my prayers for you, her and the rest of your family during this hard time of waiting.
Hugs and Prayers,
 
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Ratatosk

Administrator
Staff member
A friend of mine went thru this a year ago. And the waiting was what drove her crazy. I jokingly asked her if she'd licked her daughter to see if she was salty. She had. In her case there were no symptoms and a very, very low sweat test. Additional testing indicated she was a carrier. Depending upon the screening, certain mutations can cause results to show potential for cf.
 
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lauryn.tubes

Guest
Hi -
My daughter is 6 months old, so I went through what you're going through just 5 short months ago. I agree with aboveallis love...find out how many mutations your daughter has. If there was only one mutation...most likely your baby is just a carrier and is fine. If there's two, your baby may have CRMS or CF.

The CF clinic who called me to make the sweat test appointment was amazing. I called the nurse about 3 times before our appointment asking these very questions. So, going into the sweat test I knew that my daughter had 2 mutations. My daughter has one severe mutation and one mild mutation. Her sweat tests have all been negative so far so that could very easily be your case, as well.

So again, I jump on aboveallislove's advice. Call the CF clinic and find out how many mutations your daughter has or get a copy of the NBS report. Post them on here and people smarter than I am, can decipher them for you.

Lots of hugs mama!
 
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Worriedmotherof3

Guest
Hello,
Thank you all for your quick responses I am feeling a little better and I go to the clinic tomorrow. All they will tell me is that she does have 2 genetic mutations and they weren't even going to schedule me a sweat test which I found odd. I do not know anything else and no doctor will reach me to tell me detailed information I ended up getting the doctor to order a sweat test. I now have to wait until 8 am to get the test and I will post the results of everything the doctor tells me. it just upsets me they are jumping the gun and to me they really don't know for sure what is going on until the sweat test. Am I right on this? I am scared they are jumping the gun. I know I am in great hands with my hospital because they helped my brother get rid of Hepatitis C and it is a very prestigious hospital. It is Riley Children's Hospital. I just am going insane because everything about her just screams normal! And I am jut worrying myself sick and trying not to bawl my eyes out every chance I get because I already have a child who has febrile seizures which this happened almost a month ago due to teething, then she came early and was in distress, and I am trying to recover from a c section. I just feel like life is really throwing itself back at me and I am ready to bounce back but I keep getting pushed down. Thank you all so much you are starting to put my mind at ease it just is hard to prepare mentally for something you don't know anything about or everyone around has no clue where or how this disease came about. Thank you all so much you have all been so helpful. I will get a copy of her results tomorrow and I am so glad that my husband is here for me because it is getting hard to sleep at night and hard to not be stressed. And I am glad there are more treatments that are in the works I will be praying for all of you and pray that the Lord keep all of your children safe and take away the worry in your hearts as well.
 
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Ratatosk

Administrator
Staff member
I would ask for a copy of the results, usually can be done by filling out a release of information form at the clinic. I guess I've always understood that two copies of a mutation equals cf, so I would hope based on that you'd get a referral to the cf clinic. Ds was diagnosed prior to newborn screening because he was born with a bowel obstruction. Basic genetic tests showed cf, so when a doctor in the nicu ordered a sweat test, his cf doctor question it as they already knew he had cf. It could be the reasoning behind the clinic not ordering it, and also because with teeny tiny babies sometimes it's hard to get a good sample and it ends up reading as negative.
 
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Helenlight

New member
Hi Worriedmom, this is the hardest part, when you don't really know what's going on. It's a tricky time, because it is crucial that you and the docs find out if your child has CF, because important treatments will help keep him(?) well. At the same time, it's hard to do a sweat test on a newborn. In my country (New Zealand) you have to wait until at least 6 weeks old. Our little girl is 3 now, and we feel much more on top of things than in the beginning. Aside from regular treatments, our daughter has a normal, happy life. She was perfectly well for the first 5 weeks, with no need for meds. At that point she got a lung infection which she needed antibiotics for, but we had to wait a further 4 weeks for a sweat test because it was over the Christmas holiday period (!). It was an awful time for us, not knowing for sure if she had CF, and what that would mean for our future. Make sure the doctors and other available people are informing you fully and supporting you, because that's what will help you get through. I think I was too in shock to do that at the time, but I wish I had. We're in a good place now, and you will be too, no matter what the outcome. Come and talk to us on this forum anytime :)
 
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Worriedmotherof3

Guest
Okay sorry today has been very emotional. I just got to the computer. She has the df508 gene and the i507 gene which is a VERY rare combination. The doctor said these two mutations together act as classic CF. She is still gaining weight, I spoke with all of the specialists like you said aboveallislove. They are starting her on the enzymes and the 1/8 teaspoon of salt for now. They gave me a ton of information. What I still kind of don't understand is the nurse who did the sweat test said she had one mutation and the other mutation the i507 is very rare and the baby did not produce enough sweat sadly. But at this point does the sweat test make a difference? But today she was perfectly healthy. And they are happy that there are no major problems and they want to keep it that way and I feel a little more optimistic, it just is still not familiar territory so it is very scary.
 
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Aboveallislove

Super Moderator
Dear Mom,
I am so sorry. I know how hard the first time after the diagnosis is. Because she has two genetic mutations that are disease causing, they don't need to do the sweat test. Wanted to share a few things I wish I had known.
With the enzymes: They had me giving our son 1/2 a capsule. I was a wreck opening them, counting the beeds, splitting and saving them. TOTAL WASTE. They have you give in apple sauce, so get a baby spoon, put applesauce on it, dump the entire capsule on it, and then pull off half the beeds with another spoon and toss that and give her the 1/2. Assuming that's what they are doing. Our son was our first, so I didn't have any fear of giving him "food" as a newborn. But as your 4th I can see you worrying. he totally did fine. Just put in mouth, and give bottle or nurse. Re the salt, give it a little at a time and it might cause a cough. They had us do before sweat test and we paniced because of cough and rushed to ER because it sounded like he couldn't breath or something.
What treatments are they having you do? Did they give you a nebulier etc? if they gave you albuterol, I'd suggest asking for a script for Xopenex instead because it doesn't make them as jittery and is now available over the counter.
My understanding of i507 is that it is a class 2 mutation much like df508. I'd ask them if it is class 2 (I'll explain why in a future email), but the good news is that a trial of meds will be starting for those with one copy of df508.
I'm so glad she is doing so well and so healthy now. The treatments will be so key to keeping her that way.
Finally, you'll want to check your insurance options to see if you want to change to a "better" plan with network or mail order prescriptions, etc. because the meds are costly and it might be cheeper to do that. I know it's a lot and if you have open season in December, you could always wait and not worry for now. But if it would be another year to switch, I think you can switch within so many days of the birth of a baby. Big hugs. And while this will always hurt, it does get easier and better. Hugs and prayers.
 
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mumof1

Guest
Hi WorriedMom

I am sorry to hear about the diagnosis, you must be feeling overwhelmed. The journey is different for cfer, even with common genetic mutations.
I hope your baby takes to the enzymes and other treatments well. Its good to find out early before too much damage is done to the lungs with infections. Ask lots of questions and take good care of yourself. Accept help wherever you can. Try to keep your baby away from people with coughs and colds. My thoughts and prayers are with you.(L)



Mumof1
son with DDF508
 
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Aboveallislove

Super Moderator
Ps just saw I wrote xopenex is over the counter. I meant generic. Also given were heading in to cold and flu season, I'd make sure everyone gets in for the flu shot since she's to young for it and to make sure everyone's up to date on vaccines for whooping cough and other things. I know this is a lot. Not trying to overwhelm you but want to throw out stuff I was so overwhelmed to think of right away. Please do know of prayers.
 
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Ratatosk

Administrator
Staff member
I'm sure it's all very overwhelming. Just take it one step at a time, and eventually you'll get into a routine. And remember she's still a normal child, who just needs a few extra things to keep her happy and healthy. Being proactive, staring on proper lung care (chest phystiotherapy) is important even if there aren't any symptoms yet.

With enzymes, I emptied out the amount for a meal, divided them up into little day of the week pill containers, so I could just dump the contents of one on a spoonful of babyfood fruit, shove it in ds' mouth and follow with the bottle. Made middle of the night and early morning feedings much easier as I wasn't stumbling around emptying the contents of a capsule while he screamed for his bottle. He hated applesauce, so I pretty much used bananas.

As for the sweat test issue -- it used to be referred to as "the gold standard" in terms of diagnosis. Which was fine if it was a high number then they knew it was CF; however, those with low or normal test results sometimes would slip thru the cracks. Oh, normal sweat test (despite symptoms), congrats, your kid doesn't have CF. And parents were sent along on their way. A colleague's daughter had failure to thrive, poor lung function, clubbing of fingers by age 5, chronic infections but didn't have cf according to them because she passed "the Test". DS' sweat test was a normal 32 at age 3 weeks. Today I'm sure it would be MUCH higher as he sweats out a heck of a lot of salt when he's outside playing. One of his baseball caps is stained white with salt residue.
 
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ForeverDance

New member
Lots of good advice already given here. I just wanted to add that the best suggestion I can give is to take each new challenge as it comes. Try not to get overwhelmed with all the possibilities and "what ifs". The first little while after diagnosis can be really tough. Try to take some deep breathes and remember that you're not alone.
 
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Worriedmotherof3

Guest
Hello,
Enzymes: They have her on a lower dose so that I don't have to split it in half mainly because of the issue that you were having with trying to split it in half. Yes the food thing did scare me but I believe I can handle it. The salt I am supposed to spread throughout the day in each bottle. We also have a vitamin to give daily I don't have breathing treatments just yet and I believe the i507 is a class 2 mutation but he also said it was quite a rare combination but it acts as classic CF. I have state insurance and so far so good on medications. She also is protected from pertussis, since I received the vaccination while I was pregnant. I just have to worry about the flu because the flu shot makes me extremely ill.
 
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Worriedmotherof3

Guest
I am doing my best as we speak about coughs and colds usually I am on high alert during the first few years of life and keep my kids in. Thank you so much.
 
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Worriedmotherof3

Guest
Aboveallislove: You have helped a ton with all of the advice and knowledge. Everyone in this community has helped me feel better and I am very glad I am speaking with people who know the facts and are willing to be there for me during this stressful time. I am glad that this is a disease that can be manageable as well because when I first found out about this I just didn't know my ups from my downs and I just thought she was going to die. But now I feel that with her treatments, advancement in medicine, and beig proactive with her I have the strength and knowledge to keep her healthy.
 
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Worriedmotherof3

Guest
It is very overwhelming but it is not something I can't handle. It could be much worse. She is going to get the best care, I am certain I can provide it. She is going to stay healthy. I will probably do the same thing with the enzymes, I will start those with her next bottle and I have started her vitamin, I am going to give that to her at night. That is insane they would not test their child again. I would want to make sure my child is okay and everything about your description screams CF. I just find this all crazy because I have two sons that do not have CF or anything. The kids all have the same father, we just don't know if we will have anymore children. Also it takes me a while to get on here to reply and usually when I don't for a day or two it is because I needed to sleep. Three kids under the age of three is definitely a challenge.
 
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Ratatosk

Administrator
Staff member
Sounds like you're taking it step by step. IMO, I would push for breathing, cpt treatments. Not only to keep those lungs clear -- cfers are born with normal lungs; however, with that extra thick mucus and infections, over time the lungs will be affected --- but to get her used to it. We did CPT/breathing treatments from the beginning with ds and he would actually fall asleep during his treatments. A friend of mine, whose daughter wasn't diagnosed until age 18 months, struggled, screamed and fought every time until she was large enough for the vest.

As for medications, I purchased a number of oral syringes. Instead of using the dropper for the vitamins, I'd load up 2, 1 ml oral syringes and keep them in the fridge, so I could give them to ds prior to his morning and evening bottle. I don't suggest mixing the vitamins in the bottle because you'll never be sure she gets it all, plus they may associate the taste with feedings and refuse to eat. Friend of mine's son refuses to drink regular milk to this day because of this.
 
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