Newly Diagnosed via Newborn Screen - Help!

[greenjune]

Hi all,

We are new here as our daughter was just diagnosed at 8 days old via her newborn screen. We are a little overwhelmed and have some questions we hope the CF community or other parents might be able to help us with. Her mutations are G551D and D1152H, anyone else out there with that combination?

We have been asked to collect a stool sample and take it to the lab for testing. Turns out, this has been nearly impossible as she is exclusively breast-fed and her stool is very watery and gets absorbed by her diaper. We have tried lining her diaper with Saran wrap but the stool just runs around it and gets absorbed by the diaper. Any other ideas?

Second, we have been advised to supplement her diet with 1/8 tsp of salt. However; this is also nearly impossible as she is breast fed. I have tried administering small amounts to her in a syringe with water...she vomits it up. I have also tried pumping breast milk into a bottle and mixing in the salt. She takes it ok, but has since had a little nipple confusion. Frustrating!

We're also new to the world of CPT. She cries. We cry. It's a disaster. Any advice on CPT in newborns?

Any other newly diagnosed families out there going through what we're going through?

 

[Printer]

Check with the lab to see if they can test from an actual soiled diaper.

 

[Aboveallislove]

Dear Mom,
Welcome and congratulations on your precious daughter's birth! I am so sorry though to hear of her diagnosis. Our son was diagnosed by the newborn screen to around 9 days and I remember vividly how hard those first days, weeks, and months were. He's 5 1/2 now and thriving. I know it will be hard to believe, but she is actually "lucky" because she has G551D, as that is one of the mutations that can be partially fixed by a drug called Kalydeco. Those with that mutation on Kalydeco have had miraculous improvements and those young enough not to have lung damage have been able to stay healthy. The company which makes the drug is called Vert4ex in in October of 2014 (so 2 months ago), Vertex asked the FDA to approve the drug for those with G551D ages 2-5. Those over 5 have had it for a few years. To read of the miracle it is, I'd suggest you read http://luckycfmom.blogspot.com/2012_11_01_archive.html (read through as that is just one summary...others have many more details.) Her son started Kalydeco when he was I think 4 and as she calls that post "it's almost a cure."
So you have gotten the news we all dreaded getting, and I am so sorry; but you have also the news we all are waiting to get, that there is a medicine that will help fix the problem and allow her to live a long and healthy and happy life. I just googled D1152 and it says it is a Type IV gating mutation, which means that Kalydeco should also work on that mutation. (She has two mutations and Kalydeco works even if she only has G551D on one mutation but having a second gating mutation should mean it will work even better!) I know this diagnosis is so very hard, but she truly is so lucky to have those two mutations and you to be able to have this drug to her when she is 2! So lots of work to do all the treatments to keep her lungs healthy until then!!

Re your questions: I'd first call and ask the clinic if they can run a sample if it is liquid, because I thought they couldn't. If they can, I'd ask for a collection kit (I think it's called a hat--your local lab should have them) and see if you can cradle her so that her naked bottom is over the plastic kit at a time she would normally stool. Don't make it uncomfortable...wrap some nice blankets around it, with a place for her bottom to rest over where the poop could be collected and just cradle and cuddle as normal. Not sure if this will work, but worth the try.

Re the salt. What about having a syring handy for her to suck on a little salt water at a time throughout the day. Frankly, I was so overwhelmed, I forgot about the salt for the first year I want to say and since we weren't outside in hot weater don't think it was an issue. I'd hold off on the bottle if she isn't established nursing, but maybe check with center and see how concerned they are if she isn't getting any salt until she is established nursing.

Hang in there dear mom. Hugs and prayers
Love

 

[Ratatosk]

Ds usually pooped while he ate or shortly after. Maybe you can have her lay on the changing table sans diaper on a plastic bag around the time she usually stools and catch it. As for salt, until ds started solid food, we didn't add salt, but since the suggest it, maybe you could put some salt in some baby applesauce or diluted white grape juice. Divide it up as even 1/8 tsp seems like a lot for a tiny baby. As for cpt, I usually has ds on my thighs doing cpt, usually sitting on a chair or sitting up in our bed. They do get used to it. Ds slept or fell asleep during it.

 

[Aboveallislove]

Sorry missed the cot question. If you didn't get one ask for the tiny and held plastic suction cup that fits in your palm. Littlest handheld one works best and makes it easier....we did while e slept a lot earlier on and then he got use to it.

 

[Rebjane]

Ugh I typed up a long response and it disappeared!

 

[Rebjane]

Anyway, I'll try again, I breastfed my CF daughter until she was 3 so any questions with that part I can help. My daughter is now almost 12! She would throw up the salt as well, she did not want to take a bottle and I told the CF clinic and I stopped giving it to her. She as a toddler and tween self regulates her salt intake. She drinks gatorade and I send salt packets in her lunch box to school. Check with your clinic, if she is puking up the salt then what good is that? We live in a cold environment so I did not worry too much about it; until summer time and the you can salt thier food a little bit. For example for a "teething biscuit" I would use one of those pretzel rods(when she was closer to 7 months or so) and she would lick all the salt off of it!

The CPT I did on my lap or in a burping position with these little cups. Did respiratory teach you how? You will get through this. It is overwhelming but you can do this. You will have many questions in the beginning (or right along actually) Alot of CF is trial and error.

 

[greenjune]

Dear Mom,
Welcome and congratulations on your precious daughter's birth! I am so sorry though to hear of her diagnosis. Our son was diagnosed by the newborn screen to around 9 days and I remember vividly how hard those first days, weeks, and months were. He's 5 1/2 now and thriving. I know it will be hard to believe, but she is actually "lucky" because she has G551D, as that is one of the mutations that can be partially fixed by a drug called Kalydeco. Those with that mutation on Kalydeco have had miraculous improvements and those young enough not to have lung damage have been able to stay healthy. The company which makes the drug is called Vert4ex in in October of 2014 (so 2 months ago), Vertex asked the FDA to approve the drug for those with G551D ages 2-5. Those over 5 have had it for a few years. To read of the miracle it is, I'd suggest you read http://luckycfmom.blogspot.com/2012_11_01_archive.html (read through as that is just one summary...others have many more details.) Her son started Kalydeco when he was I think 4 and as she calls that post "it's almost a cure."
So you have gotten the news we all dreaded getting, and I am so sorry; but you have also the news we all are waiting to get, that there is a medicine that will help fix the problem and allow her to live a long and healthy and happy life. I just googled D1152 and it says it is a Type IV gating mutation, which means that Kalydeco should also work on that mutation. (She has two mutations and Kalydeco works even if she only has G551D on one mutation but having a second gating mutation should mean it will work even better!) I know this diagnosis is so very hard, but she truly is so lucky to have those two mutations and you to be able to have this drug to her when she is 2! So lots of work to do all the treatments to keep her lungs healthy until then!!

Re your questions: I'd first call and ask the clinic if they can run a sample if it is liquid, because I thought they couldn't. If they can, I'd ask for a collection kit (I think it's called a hat--your local lab should have them) and see if you can cradle her so that her naked bottom is over the plastic kit at a time she would normally stool. Don't make it uncomfortable...wrap some nice blankets around it, with a place for her bottom to rest over where the poop could be collected and just cradle and cuddle as normal. Not sure if this will work, but worth the try.

Re the salt. What about having a syring handy for her to suck on a little salt water at a time throughout the day. Frankly, I was so overwhelmed, I forgot about the salt for the first year I want to say and since we weren't outside in hot weater don't think it was an issue. I'd hold off on the bottle if she isn't established nursing, but maybe check with center and see how concerned they are if she isn't getting any salt until she is established nursing.

Hang in there dear mom. Hugs and prayers
Love

Aboveallislove,

Thank you so much for your thorough and speedy reply. It's always encouraging to hear about "success" stories, and I'm glad to hear your son is doing so well!

We have read a lot about Kalydaco and are feeling blessed that this may be an option for her. The blogs are very encouraging and it sounds like the improvements that have been made in the field of CF are really miraculous! I can't help but feel that it won't be long until all mutations have the option of a drug like Kalydeco.

D1152H is apparently a mutation with "variable clinical consequences," meaning that sometimes people with this mutation and another CF-causing mutation HAVE CF, and sometimes they don't. According to our CF specialist, we really won't know which way my daughter will go until we can repeat her sweat test at 6 moths of age (her 2-week sweat test was 30 and 37). We also need to monitor her for the development of clinical symptoms I guess such as failure to gain weight and any pseudomonas cultures. Only time will tell...

It sounds like her best case scenario will be that her sweat test results at 6 months of age remain in the "intermediate" zone, and she doesn't develop any clinical symptoms. In that case, she may be diagnosed with CRMS. We'll keep praying. This will be the longest 6 months of our life!

I called the clinic, and they said to try brining in a diaper, so we'll try that on Monday! Hopefully we'll also be able to "catch" some stool with some great timing and patience. lol

Today I pumped milk and added 1/16 tsp of salt to the milk and gave it to her in a bottle. It was a bit of a fight, but much easier than trying to syringe salty water into her mouth while she screams (and then vomits). She tolerated the breast milk with salt and has kept it down. So far.

We're doing 15 minutes of CPT in the morning and at night. Last night she didn't cry, and she was pretty good this morning too! I think the trick is to do it when she's tired, fed, and has a pacifier. She's a trooper in those instances. But otherwise...no chance.

Thank you again for your reply! It really is nice to know that there are people out there who have been through this roller coaster. Thoughts with you and your son.

 

[greenjune]

Ds usually pooped while he ate or shortly after. Maybe you can have her lay on the changing table sans diaper on a plastic bag around the time she usually stools and catch it. As for salt, until ds started solid food, we didn't add salt, but since the suggest it, maybe you could put some salt in some baby applesauce or diluted white grape juice. Divide it up as even 1/8 tsp seems like a lot for a tiny baby. As for cpt, I usually has ds on my thighs doing cpt, usually sitting on a chair or sitting up in our bed. They do get used to it. Ds slept or fell asleep during it.

Ratatosk,

We're going to try and bring in a diaper on Monday as well as "catch" some stool just in case the diaper doesn't work.

1/8 tsp DOES seem like a lot! I'm interested in why some patients are started on salt as a newborn and others aren't. Maybe it has to do with sweat test results? My daughter's 2-week results were 30 and 37.

She hasn't been prescribed enzymes yet as we're hoping she's pancreatic sufficient. Her weight gain has been good so far.

 

[greenjune]

Anyway, I'll try again, I breastfed my CF daughter until she was 3 so any questions with that part I can help. My daughter is now almost 12! She would throw up the salt as well, she did not want to take a bottle and I told the CF clinic and I stopped giving it to her. She as a toddler and tween self regulates her salt intake. She drinks gatorade and I send salt packets in her lunch box to school. Check with your clinic, if she is puking up the salt then what good is that? We live in a cold environment so I did not worry too much about it; until summer time and the you can salt thier food a little bit. For example for a "teething biscuit" I would use one of those pretzel rods(when she was closer to 7 months or so) and she would lick all the salt off of it!

The CPT I did on my lap or in a burping position with these little cups. Did respiratory teach you how? You will get through this. It is overwhelming but you can do this. You will have many questions in the beginning (or right along actually) Alot of CF is trial and error.

Rebjane,

I wonder what the advantage of giving salt to a newborn is? What are the consequences if we don't do it?

The CF clinic did teach us how to do the CPT although, embarrassingly, my husband and I were crying during the appointment so I'm not sure how much we took in. They gave us paediatric anaesthesia masks to use. She is getting better at the CPT. We try an time it so she is tired and well fed. She has rested comfortably the last two times we have done it. She doesn't cough or anything though. Should she be?

 

[Ratatosk]

Ds didn't cough up or cough during cpt. We learned while ds was in the nicu, so we got lots of practice and hands on experience. We were also given a handout showing how to do it, so check online. We started with the little cups, but the doctor had us also learn with hands, two fingers to start as we'll always have hands, might misplace cups.

we noticed as ds got older and sweated more he needed more salt. I'd add salt to his baby food. At daycare he had his own salt shaker and takes hits off of it when need be.

 

[triples15]

Hi and welcome June! Congratulations!

Sorry to hear of your little ones diagnosis, but you have come to a great place for advice and support.

I'm the CFer in our family, so I'm afraid I can't offer you much in terms of the advice you are looking for, but luckily a few moms have already given some help!

I just wanted to give my 2 cents as an adult with CF, and also a breastfeeding mom. I am so there with you on the concern about nipple confusion and establishing breastfeeding. Honestly, those first few days and weeks after my daughter was born were so stressful I can't believe it. I was so worried about everything, and my child doesn't have CF, so I can just about imagine how overwhelmed you are. So here's the deal, I'd just take the salt off the table (so to speak) at this point. Don't beat yourself up about not getting it in. You can add it in later, as things become easier. As others have stated, it will become more important as your baby gets older.

Well I better run!

Take Care, and congrats again!

Autumn 34 w/CF

 

[Mama2Five]

Hi there!

I can SO relate to the emotions involved with getting that info on your newborn. For me, it was so hard because I was already lacking sleep, my hormones were all over the place and birth was a pretty traumatic experience in itself!

We haven't gotten a concrete diagnosis yet, but things are getting "easier" emotionally as time goes on. We got the call when she was 20 days old, so just under 3 weeks and she's now 12.5 weeks old. Things settle into place and they don't feel as heavy as they feel now.

Hang in there Momma, you're doing great!!

 

[Tnjackson2]

I can also relate!! My son was born 10-6-14, and we found out 3 wks later he was diagnosed with CF - gene mutations F508del and 1717-1G->A. I also have a four yr old son non-cf. I was devastated, cried for about 3 days straight. There was no known family hx of CF or even being carriers. Daily we do the cpt 2x/day, which for some reason I find so daunting. The resp therapist at our last cf appt didn't perform it on him to show us so I was overwhelmed trying it the first time, but its gotten easier. We do 1/8 tsp of salt (using a salt packet from fast food places) which I split up b/t a few bottles. I can imagine this routine is quite difficult with the breastfeeding. He's also on enzymes because he's severely pancreatic insuff. We also put the liquid A D E & K vitamins in his bottle. It is overwhelming to think about the future, so I am trying my best to take it day by day (or even hr by hr)! Our next cf appt is Tuesday, and I'll take another stool sample so they can test fecal fat levels again, as it was too high last time.

I thank all of you for sharing your advice and stories! I wish the best for everyone battling this, and with the new drugs/research coming I am hopeful and prayerful!!