F508del and R117H in our newborn

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rachelh79

Guest
My newborn was born mid January and we found out last Monday that her newborn screening came back with an elevated IRT and she tested positive for F508del and R117H (7t) mutations. We followed up at a CF Clinic and her sweat test on Friday was borderline at 42, so they diagnosed her with CRMS rather than true CF.

The confusing thing is that she has is down over a pound from birth weight and is not gaining it back. We were told that the R117H mutation was not usually associated with pancreatic insufficiency. She is my fourth breastfed baby and my other three all were in the 90th percentile by the time they were a month old...so the weigh issue does not seem to be a supply issue and we are wondering if it is, in fact, CF related. We have another weight check tomorrow with our pediatrician.

We dropped off a stool sample to the CF Clinic for the fecal elastase test, but I just got a phone call back today saying that her stool was too liquid to do the test. Because she is breastfed, her stools are never solid, so I am not sure what to do?? Has anyone else had this happen? Any advice? (Her brother has pretty severe food allergies, so I really don't want to give her formula just to be able to have a firmer stool).

Thank you!
 
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SandiC

New member
Hi Rachel,

I am wondering how things are going with your newborn. My 7 month old son has the same combination but I feel like we are in wilderness as they say he doesn't have CF but we still have to see Dr's every 3 months at the moment and he does not have any symptoms. My son initially lost too much weight when he was born and before the genetic testing and any hint of possible CF however I was having supply issues and once I went to formula he has been right on average for weight. My husband and I are getting a bit frustrated as we feel our son is a test case and we can't seem to find anyone in a similar situation.

Thanks
Sandi
 
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rachelh79

Guest
Hi Sandi,
We are pretty much in the same situation. My daughter's stool test said she was pancreatic sufficient and she is gaining weight now (but it did take her 5 weeks to return to birth weight). She has been asymptomatic so far, but we are being seen at a CF Clinic as well. We are doing salt replacement (1/8 teaspoon salt in one bottle) and manual CPT once a day (more if she were to get sick) and will have another sweat test at 6 months. I agree with you on the difficulty of the CRMS dx and feeling stuck in limbo. I'm trying to look at it as a positive that they are keeping an eye on her if she were to develop symptoms. Are you doing any type of treatment or just following up every 3 months?
 
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Meabtahi

Guest
Hi Rachel and Sandi,

our baby was girl born in late November has the exact same mutation combination and was also diagnosed with crms after a sweat test of 40/41. Weight gain was not an issue and so far she has been asymptotic. She's not on any meds or treatment right now but other than that we are the same with a cf clinic visit every 3 months this first yr and a repeat sweat test at 6 months. Rachel, is your little on treatments just as a precaution or were there symptoms indicating they were necessary? One of my biggest fears is we aren't being proactive enough but our doctor assures us right now she doesn't need them. It is very scary being in this perpetual gray zone where every little cough makes your heart skip a beat. I recently read an article though in which they actually think this combo of mutations is quite common but always went undiagnosed before newborn screening due to lack of symptoms, therefore, they think a lot of adults are living normal healthy lives with our babies exact mutations. This was reassuring to me. Anyways, I just wanted to say hi as it's nice to find others in the same boat who can understand. I would love to keep communication open with you ladies.
 
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Indianamom

New member
Hi, all! My daughter has the same mutations. She is CRMS also. She will be 10 in May. The only symptom she has ever had, which is why I had her tested, is her hands get extremely wrinkled in the pool. It's been about a year since we realized there was a link. Our state didn't test for CF when our children were born. She goes to the hospital every six months. If at the next checkup she is still showing no symptoms, she will start going once a year. According to her doctor, she may or may not have any symptoms. I pray all the time that she NEVER will.
 
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CFParent2

New member
Many patients with R117H and Df508 have a reduced set of symptoms. How reduced depends on their variant (5T 7T or 9T). Please see the following link for more details.
http://www.cftr2.org/r117h.php

Also depends on the following TG tracs
http://genetics.emory.edu/docs/Emory_Human_Genetics_Cystic_Fibrosis_PolyT_TG_Tracts.pdf

Back when my son was diagnosed they did not even tell us that he may have a mild case. Not sure how many people even knew the significance of different variations. I don't even think they had a CRMS diagnosis. The truth is there are always some variation between patients with the same exact mutations. Everyone is a bit of a "test" case. That said, they are always learning more about how gene combinations effect each other.

Df508 and R117H cases are sort of the odd ball. Lung involvement symptoms usually do not show up until after the age of 18. Just recently they tried to prove the effectiveness of a new drug on the R117H crowd. They could not find enough people under the age of 18 with significantly low FEV1 levels, so they opened up the study to healthy patients. Needless to say the did not show any improvement in this age group(Shocker), even though the drug works great on the older not-so healthy crowd.
 
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rachelh79

Guest
Meabtahi, our daughter has been asymptomatic so far. I guess the salt replacement and CPT is just standard at our clinic? Is anyone else doing these before an official CF dx?

Our doctor also indicated that we would probably see some type of symptoms later in life. The fact that the Df508 and R117H combination doesn't typically show up early in life makes me curious about our other kids. Our daughter with CRMS is our 4th and the genetic component of the newborn screening was not done with for sure the first two and maybe all three of my older kids. We are going to follow up with more testing this summer.
 
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kittenface

Member
Hi Rachelh79,
I'm a 49 year old female with the same gene combination as your daughter. I was diagnosed at 37. Do you live in the US or Canada? I was diagnosed when I was pregnant. Growing up I had difficulty gaining/maintaining a healthy weight but was relatively healthy. Had lung infections as a teenager and didn't have any digestive issues. It's true that this gene combination is typically very mild however it's a good thing that your daughter has been diagnosed. I wished I had known in my late teens/twenties since I had lung infections a lot and would have been properly treated. If you would like to send me a private message I'd be happy to answer any questions you may have. When I joined a few years ago I reached out to other R117H & DF508 patients and it does really vary from person to person. Congratulations on your baby girl! Lori
 
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rcwebster

New member
Hi everyone!! I have to say I got a bit teary finding this thread. I thought I wouldn't be able to find others going through what we have been going through! My daughter will be 2 in July. She was born with the DF508 and R117H (7T) genetic combo. She was labeled CRMS and we have felt from the beginnning like she's a test case - yes SandiC! We were going in every 3 months at first and now every 6, and I dread it. Each time we visit they look at her like any minute she is going to explode with a myriad of CF symptoms. Rachelh79... Mia was 8 lbs 2 oz. at birth and dropped a bit at first, which is normal. I breast fed her for 14 months. She gained weight, but is on the petite side for sure. She has been completely a-symptomatic so far. Recently, she and her 6 year old brother developed a nasty cough, his went away, hers is going on 4 weeks. She was doing nebulizer treatments but hasn't kicked it completely. Every one of her fecal samples and throat swabs have come back normal. I hate to call the CF doc because I'm scared they will want to do lung x-rays, blood work... the list goes on.
 
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SandiC

New member
Hi All

Sorry I have been so rude and not reply, but to be honest I didn't realise people had responded. Luckily my son is too asymptomatic at the moment and we aren't doing any treatments. There has been no mention of doing another sweat test and we are due for another check-up in September and provided everything goes fine there, we will be on yearly visits only. However, at his last check-up they were worried how he has not been gaining consistent weight. It was in the 50% percentile but now he is closer to the 25% percentile even though he is tall for his age which is a bit of a worry. Also he had a bit of a chest infection and they gave him antibiotics straight away and it seems like it took for ever to clear up.

We are trying to remain positive especially as it sounds like we are extremely lucky in our situation compare to the other CF suffers. But it is also quite comforting to hear from other people in similar situation to ours. I had a bad response from other CF suffers when I posted on another forum about our situation as they believe you either have it or you don't mentality which just made me feel even more isolated and upset. It would be nice to keep in touch with all of you and to hear how you/your kids are progressing.

Take care
Sandi xx
 
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Ratatosk

Administrator
Staff member
IMO, CF is CF -- meaning if there are two mutations = cystic fibrosis. In a perfect world it'd be awesome to say "mild cf", so we don't have to mess with treatments or medications, we can just wait and see if the lungs will be affected. However, with the delta f508 as being one of the genes identified, eventually symptoms will occur, so it's best IMO to be proactive. http://www.cftr2.org/r117h.php
 
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SandiC

New member
That is definitely encouraging Rachel. Do you mind me asking where abouts do you live? We live in Australia. Also my son is my first so I am a bit naive when it comes to what is "normal" sickness in kids, but I honestly think it has taken exceptionally long to clear up.

Ratatosk - with all the doctors I have seen so far they tell me worst case scenario is mild cf and that it is possible he may never develop any symptoms. They say the only thing with any certainty is that he will be infertile. They also told me that r117h isn't even considered a cf causing mutation normally and it is only when it is linked up with the F508d gene it causes problems.

The proactive approach for us is the regular visits. When they discovered my son's mutations they said well you don't need to come back to us if you don't want. We have nothing to treat atm and we may never so it could be a waste of time. My husband was happy to leave it, but I wanted to stay on top of it in case something does develop, we could deal with it pretty much straight away.

In some ways I would rather him have the traditional cf as it seems much more clear cut what to do/expect then this whole grey area on the cf spectrum.....
 
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rachelh79

Guest
We live in St. Louis, Missouri. That's interesting that they left continuing treatment up to you. We have been going every 2-3 months so far but assuming it will space out some if she continues to be healthy and asymptomatic. I definitely agree that continuing visits is smart because if our children begin to develop issues, we will be on top of it. It does seem like the R117H 7T can be variable in results, but most likely mild, but I have read cases otherwise so am happy to have care for her...
http://pediatrics.aappublications.org/content/118/3/1260.full

http://adc.bmj.com/content/83/2/185.2.full

(I read too much!)
 
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ymikhale

New member
SandiC said:
Hi All

Sorry I have been so rude and not reply, but to be honest I didn't realise people had responded. Luckily my son is too asymptomatic at the moment and we aren't doing any treatments. There has been no mention of doing another sweat test and we are due for another check-up in September and provided everything goes fine there, we will be on yearly visits only. However, at his last check-up they were worried how he has not been gaining consistent weight. It was in the 50% percentile but now he is closer to the 25% percentile even though he is tall for his age which is a bit of a worry. Also he had a bit of a chest infection and they gave him antibiotics straight away and it seems like it took for ever to clear up.

We are trying to remain positive especially as it sounds like we are extremely lucky in our situation compare to the other CF suffers. But it is also quite comforting to hear from other people in similar situation to ours. I had a bad response from other CF suffers when I posted on another forum about our situation as they believe you either have it or you don't mentality which just made me feel even more isolated and upset. It would be nice to keep in touch with all of you and to hear how you/your kids are progressing.

Take care
Sandi xx
Click to expand...
I am surprised that given chest infection that does not clear up and trouble keeping up weight, they are not more concerned and don't suggest preventative treatments. I mean these are classical symptoms of a CF exacerbation.
 
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Ratatosk

Administrator
Staff member
Unfortunately it's the other gene the delta f508 that can cause issues. Some carriers of that gene have symptoms. I would hope the clinic you see is proactive in treating the symptoms. Plus IMO it's a good idea to practice good lung health with CPT, regular appointments, blood and culture tests.... One would hate to say down the road, gee, I wish I would've could've should've because after lung damage occurs, you cannot get that back.
 
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gunelle

Guest
Hi, I have almost the same mutationes. I have R117c instead of R117h. I went through life undiagnosed untill the age of 32. I am now 37. My last FEV1 was 78, my highest is 84. I have bronchiectasis, sinus issues and pleurisy from time to time. I developed bronchiectasis, from not being diagnosed earlier and not getting the proper medication. I did not take anything untill 32 years of age. The odd pencil here and there, when I had pneumonia and sinusitis. I am not a "typical" CF case. And growing up noone thought of CF. I had colds all the time, thick mucus, but I was normal weight (overwight in my 20s). The thick mucus has damaged my lungs. So if you have the oppertunity to clear out your child's mucus before it damages her/his lungs, I would say go for it. My treatment routine is doable. It takes about 30 min. in the morning and 30 at night. If I am not on a sinus treatment regine, which takes longer. To ignore the CF diagnosis and not treat it, is not recomendable in my book. Better to be safe than sorry. And with the new medicin "just around" the corner, your child will hopefully be albe to benefit from that. Thank you.
 
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SandiC

New member
Thanks for all the reading Rachel. Definitely very interesting.

Thanks everyone else for their opinions. We currently attend one of the best children's hospital /cf clinics in the country, so I do have some faith in what's happening. I am comfortable atm waiting to see what the outcome of the September review is.
 
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jpboulais

New member
Hi I know this is an old thread but I have stumbled upon this when my partner and I got the news that our little girl have this mutation. I was wondering how's everyone doing almost 10 years later. I love to hear from you. Thanks
 
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