Newborn Screening- NERVOUS WRECK PLEASE HELP!

[Aboveallislove]

You are doing great and your daughter is in such good hands! But you must be exhausted. Over time I found some time savers that I wish I had earlier. We now use disposable syringes for all oral meds rather than trying to wash. This is like what we use post at end. Also when you go in next and get the albuterol or xopenex and the compressor, I'd ask if you can get an extra nebulizer cup and mask...that way you have a back up that is ready and you can wash and sterilize once a day. If they won't give you an extra than I'd buy a few. Te same company has good deals on them too. Also, make sure to ask for the hand held rubber cup that you can use for chest percussions as it is hard with little ones to do with your hand. They'll like show you this next time. One final thought...if you are noticing lots of spit up, make sure to mention to cf doctors because acid reflux is worse for CFers and they are often on zantac very early on for both the acid and to make the enzymes work better. Again something for you to keep in mind for the next meeting. Oh, I guess two more finallys the enzymes are very important ven if she seems not to need them. The meds that are in the works that will likely be available next are for those with two copies of df508, but because her other mutation is a class 2, they likely will work similarly for her. She's much too young now, but by the time she's six these meds will be there to keep her even healthier until the real cure...I know that sounds like ages, but our ds is 5 and a half and I remember thinking when he was six months old that he'd have the meds by the time he is six and now were almost there. Big hugs and prayers. http://www.allegromedical.com/syrin...osable-syringe-with-luer-lok-tip-p563785.html

 

[Aboveallislove]

Just to jump on with ratatosk...I too would push for the xopenex and percussion treatments for the reason she said. I was assuming they are having you back in a week or two to get that all, but if not I would make sure you are set within a month to start...I think so e centers start the second appointment to not overwhelm, but I wouldn't wait more than that.

 

[Mama2Five]

Hi Worriedmotherof3!

How are you doing? Been a few days since you checked in--give an update if you can!

 

[Worriedmotherof3]

Things are going okay. I feel more confident but I think I am going to order another newborn screening. It may sound stupid I just want to be 100% sure. Also got worried a few days ago because I had to give her an infant enema because she was constipated because of her enzymes. But we are okay now.

 

[Worriedmotherof3]

You guys are an awesome support group. I go back new week and she doesn't spit up a lot, I just worry about weight gain. My routine is definitely better. I have had more sleep as well.

 

[Worriedmotherof3]

My question is. While I am thinking about it is. Did your babies seem like they would get full when they ate their vitamin and when they would eat their enzymes and sometimes fall asleep when they had to wait a little longer to get the stuff prepared? I feel like sometimes when I am getting her stuff together sometimes I have to get food and drinks for my other babies and she doesn't eat as much because she seems like she is getting disinterested by the time she eats some of her bottle. I have a drs appointment Monday with my ped.and then Wednesday with the specialist.

 

[Mama2Five]

Things are going okay. I feel more confident but I think I am going to order another newborn screening. It may sound stupid I just want to be 100% sure. Also got worried a few days ago because I had to give her an infant enema because she was constipated because of her enzymes. But we are okay now.

Glad you are feeling better! I could SO relate to your first post--I was a wreck when I received the call (it was just a couple weeks ago, feels like it's been ages!). But as time is passing, it's getting easier. She's still a normal baby, doing everything she's supposed to be doing and meeting all milestones. I'm starting to be okay with whatever comes next-whether a diagnosis or an all clear.

If two mutations showed up on her screening, why would you think that a second test would give different results? Just wondering. Also, are you breastfeeding? Or formula? I'm formula feeding our baby, and since discontinuing breastfeeding (at two weeks old) she only poops every other day. Her Dr. told me that on the days she doesn't poop to give her a little prune juice--haven't tried it yet but I might if this doesn't work itself out. She is not on enzymes though so I'm not sure on that--hopefully someone else has insight.

Sorry you're going through this--but know you're not alone!

 

[Ratatosk]

I understand wanting to know for sure as ds passes his sweat test with a normal 32; however, 2 mutations equals cf...

as for getting full, tired before or during feeds. I had oral syringes in a baggy in the fridge ready to go with meds, as well as a prepared bottle. I also measured out the dosage of enzymes for each meal/bottle in tiny containers, so all I had to do was dump the beads on a spoonful of baby food fruit. He sometimes fell asleep or slept thru feeds. We fed him every 3 hours to regain weight he lost in the nicu. It takes a little adjusting to get the right amount of enzymes, get used to taking them. Ds sometimes had constipation and we'd have to give him a little milk of mag to clean him out.

 

[Worriedmotherof3]

Response to Mama2Five

Glad you are feeling better! I could SO relate to your first post--I was a wreck when I received the call (it was just a couple weeks ago, feels like it's been ages!). But as time is passing, it's getting easier. She's still a normal baby, doing everything she's supposed to be doing and meeting all milestones. I'm starting to be okay with whatever comes next-whether a diagnosis or an all clear.

If two mutations showed up on her screening, why would you think that a second test would give different results? Just wondering. Also, are you breastfeeding? Or formula? I'm formula feeding our baby, and since discontinuing breastfeeding (at two weeks old) she only poops every other day. Her Dr. told me that on the days she doesn't poop to give her a little prune juice--haven't tried it yet but I might if this doesn't work itself out. She is not on enzymes though so I'm not sure on that--hopefully someone else has insight.

Sorry you're going through this--but know you're not alone!

Hello,
I feel like I would feel better to be sure there are indeed two mutations. There were a lot of babies born the day I gave birth and I just want to have the second testing done because it would make me feel a little better I suppose. And the mutation that she would have a second mutation is like an off shot of a mutation and it can mutate itself just a little but still function as normal. I am formula feeding and I have had to give her another enema it just scares me because I don't want her to become impacted. See my daughter is also doing better and she is okay but they started her on all of this stuff and it just gets exhausting and frustrating because I was always told to never give a baby food for the first year because they can't process food so it is just all new and contradictory to everything with my other children. I know every child is different but it just seems like I dunno.
Thank you for the advise about the prune juice I will definitely try that because I don't want to keep giving her enema after enema.

 

[Worriedmotherof3]

I understand wanting to know for sure as ds passes his sweat test with a normal 32; however, 2 mutations equals cf...

as for getting full, tired before or during feeds. I had oral syringes in a baggy in the fridge ready to go with meds, as well as a prepared bottle. I also measured out the dosage of enzymes for each meal/bottle in tiny containers, so all I had to do was dump the beads on a spoonful of baby food fruit. He sometimes fell asleep or slept thru feeds. We fed him every 3 hours to regain weight he lost in the nicu. It takes a little adjusting to get the right amount of enzymes, get used to taking them. Ds sometimes had constipation and we'd have to give him a little milk of mag to clean him out.

Thank you Ratatosk you have been so much help. If she passes the sweat test then what would that mean? I know the other symptoms I am always going to look for. I just wonder what would that mean for her in terms of care? I know I feel dumb asking questions but would that mean I needed to continue her treatments? Or would that mean her mutation isn't as severe as other mutations? I feel like there could have possibly been a mix up in the lab maybe because there were a ton of babies born the same day as me and I know it is wishful thinking but I would feel better with a second opinion.

 

[Ratatosk]

What I meant was because ds had a normal sweat test, despite genetic testing showing 2 mutations, I felt that maybe, just maybe the tests were wrong and it was all just a mistake, that maybe someday, we'd be told it was an error. It's all overwhelming at first, a bit of denial. WF still gave him 4 cpt treatments with Nebs daily, enzmes, vitamins, antibiotics... Ds only had digestive symptoms and some sinus issues at first, but eventually he cultured pseudomonas, a common cf bug.

 

[Aboveallislove]

Dear mom, I am so sorry for how hard this all is. We all know and remember all the emotions and pain of those early days. A few thoughts...the way hospitals do testing it is next to I possible that the results got mixed up, but if it would make you feel better you can always ask the cf doctor to order a second blood test. I wasn't sure what you meant by the mutation being an off shoot and functioning normally...but the two mutations she has are disease causing. That doesn't mean that she'll have lots of problems...everyone with cf is different. Our son has "mild" cf lung wise, but I think the worse gi stuff you could have...and no sinus issues at all. Others with his same mutations have totally different situations...but the key is even if all seems normal and healthy to be very proactive because the issues can sneak up on you and them the damage is done. Also the new drugs coming out work best if there is no lung damage etc. I vividly remember our ped saying you'd never know he has cf if you didn't know. He seems completely healthy but that's because of the hard work he does with all the treatments and that's what makes today different for CFers than twenty ears ago...all the treatments.
Re the constipation are you giving a high calorie formula mix? That can constipated and maybe check with doctor re making it not so concentrated. Also maybe check if you can do the enzymes with prune purée instead of apple sauce...we transitioned to that early on to address constipation, but I'm not sure if it is okay at young age. But re the no food before four or six months...the normal rules don't apply to cf and she needs the enzymes and the food. Re the eating...for me it took longer to warm the formula than get the enzymes ready and I'd usually try to get it ready as ds was not quiet awak so I could give him as soon as he was. Hang in there and know of thoughts and prayers.

 

[Aboveallislove]

Two more things...if you are nervous re the weight get a baby health o meter scale so you can weigh at home. That heled us early on not worry so much re weight. Also before newborn screen those with cf went often diagnosed for a year or so because it took a while for symptoms to show and be recognized and that's why newborn screening is such a blessing...you start treating the cf before the problems start!

 

[Ratatosk]

As for being concerned about feeding her food (baby food puree), it did take me a little aback; however, ds needed his enzymes to digest formula. It's a totally opposite mindset. Because he was born with a bowel obstruction due to meconium ileus, we knew it was absolutely vital that he takes these to digest fat. DS hated applesauce, so we used babyfood bananas. Another oddity for us was when it was time to start solids. Our cf doctor warned us that babyfood was low in fat and salt, something that people wcf needed. He suggested we grind up whatever we were eating and feed that to ds or doctor up babyfood. So I was reading labels to find convenience items with higher fat and salt content, adding butter and oil to baby foods, adding cream.

 

[Mama2Five]

I would ask the clinic you are going to if they could order a DNA sequencing on you and your significant other. That was the next step for us--and it was found that my husband carried DelF508 and I carried I1366T. In the state of California, I believe it's covered by the newborn screening program.

That way, you can see for sure if your child does indeed have those two mutations.

When do they plan on repeating the sweat test?

 

[Ratatosk]

I thought a previous post you'd identified the mutations as Delta f508 and i507, or did I misunderstand. I believe Noexcuses has those two mutations.

 

[Worriedmotherof3]

New News And Update

Dear mom, I am so sorry for how hard this all is. We all know and remember all the emotions and pain of those early days. A few thoughts...the way hospitals do testing it is next to I possible that the results got mixed up, but if it would make you feel better you can always ask the cf doctor to order a second blood test. I wasn't sure what you meant by the mutation being an off shoot and functioning normally...but the two mutations she has are disease causing. That doesn't mean that she'll have lots of problems...everyone with cf is different. Our son has "mild" cf lung wise, but I think the worse gi stuff you could have...and no sinus issues at all. Others with his same mutations have totally different situations...but the key is even if all seems normal and healthy to be very proactive because the issues can sneak up on you and them the damage is done. Also the new drugs coming out work best if there is no lung damage etc. I vividly remember our ped saying you'd never know he has cf if you didn't know. He seems completely healthy but that's because of the hard work he does with all the treatments and that's what makes today different for CFers than twenty ears ago...all the treatments.
Re the constipation are you giving a high calorie formula mix? That can constipated and maybe check with doctor re making it not so concentrated. Also maybe check if you can do the enzymes with prune purée instead of apple sauce...we transitioned to that early on to address constipation, but I'm not sure if it is okay at young age. But re the no food before four or six months...the normal rules don't apply to cf and she needs the enzymes and the food. Re the eating...for me it took longer to warm the formula than get the enzymes ready and I'd usually try to get it ready as ds was not quiet awak so I could give him as soon as he was. Hang in there and know of thoughts and prayers.

First of all I have new news that is positive. The bad news of this is I went into my drs office on Monday and I was then admitted into Riley Children's Hospital in Indianapolis for rapid breathing on my little one. He oxygen was fine the whole ride there, her oxygen level was okay in the drs office with a 95%, but my pediatrician did not feel comfortable sending her home because she was breathing rapidly for a few minutes in his office. Thank goodness he noticed it. My little one ended up have a pneumonia at the top of her lungs. They ended up doing two samples of the sweat chloride test and the best part about this is she tested negative with a score of 18 and 20 so she doesn't have cf but they are doing a blood test and breaking down the mutations that popped up on the newborn screen and they took my blood to see what mutation and if I have a mutation. The okay news is that she could be a carrier at this point. But she will only be a carrier from what the director of the pulmonary and cystic fibrous clinic says. They also do the blood labs within the hospital because they specialize in the genetics of cf and there are only 2 labs in the US that does this and luckily there is one here and I believe they said also in California or florida I can't remember exactly. But the director of the cystic fibrous clinic was surprised she did not have cf, my doctor was and so was all of the nurses. We are keeping an eye on this and doing more tests to see what is going on.
The genetics part of this is that either two of the mutations are on the same allele which would make it a polymorph I believe which would in turn still make her a carrier of the disease and the other possibility is that one mutation came from me and one came from my husband but one mutation did not mutate enough to produce the disease which would still mean she is a carrier.
We are keeping an eye on her and we are home now after a 5 day stay at they hospital, she has no more enzymes, no vitamin, no breathing treatments and only on an antibiotic for now to get rid of the pneumonia. She is doing excellent her breathing is better (which I really didn't notice a difference until she was better) Her pneumonia is not contagious and she is just doing so much better!!!
After we too her off of the enzymes she is not getting constipated anymore, not having problems with eating more and she is back to normal looking stools. I send so many prayers out to you guys and hugs all around as we go through this journey I have become so knowledgeable thanks to all of you and the drs of cf. Sending my love, best wishes, and prayers to you parents this is a rough journey and I will let you guys know more once I do and can get on here.

 

[Worriedmotherof3]

They are doing DNA sequencing that is the next step her sweat chloride test were scores of 18 and 20 so that means no CF. we are going to hopefully get those results in about novemberish possibly later. But as of now she does not have CF and she is a carrier is what my understanding is.

 

[Worriedmotherof3]

I thought a previous post you'd identified the mutations as Delta f508 and i507, or did I misunderstand. I believe Noexcuses has those two mutations.

Yes these are the mutations but the drs are doing more testing and I will let you know for sure what is going on because as of now my daughter has pretty much sent everyone for a loop they were about 95% sure she had it before the sweat test but it came back she does not have CF and they are now doing the blood test to see where this mutation is or if she has it but regardless she will be a carrier. She is off the enzymes and vitamins. So she is only on an antibiotic for her pneumonia and we are monitoring her weight gain and breathing as of now I will keep you all updated. You guys have helped me so much and I really appreciate it from the bottom of my heart.

 

[Ratatosk]

You keep referencing the doctors office and sweat tests and doctors saying she doesn't have cf based on that... Is this an accredited cf clinic, as not all sweat tests are accurate..... IMO, based on the pneumonia, positive nb screening listing two common cf mutations, I'd err on the side of caution and continue cpt. But that's just me.