4 week old has CRMS for right now

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Mama2Five

New member
4 week old has CRMS for right now-Update in Post #7

Here is what I know so far--we went to Children's hospital Monday to get the sweat test and consult. The sweat test results were indeterminate--one was 33 and the other was 30. For infants, anything 29 or less is considered negative. 30-59 is indeterminate meaning CF is possible, and 60+ is considered positive. So I'm not sure if there's any weight in the results being on the lower end of intermediate or if intermediate means intermediate whether 30 or 55.


Nothing is known about her second mutation, I1366T. So they said we're in a gray area based on the mutations--it's not a yes but it's not a no. Based on the sweat test, we're still in a gray area. She is otherwise thriving-83rd percentile for weight (has gained 1 lb 2 oz in 3 1/2 weeks), hitting every milestone for a newborn and has perfectly clear lungs. We go back in a month for genetic testing to find who has what and waiting for the throat swab and fecal elastase to come back which should be within a week. Basically covering all bases. As of right now, she is being considered CRMS.


Here is the results from the initial screening-


-----------------------------------------


CFTR DNA sequencing


Mutation 1-delF508
Mutation 2-I1366T-This sequence change was described in an asymptomatic carrier. No reports link this sequence change to CF. This clinical significance of this change in cystic fibrosis is therefore currently unknown.


Poly T/TG-(TG)10-7T/(TG)10-9T


This child carries one severe CF mutation and one sequence change of unknown clinical significance. Clinical followup for potential symptoms is recommended. Parent studies would be necessary to determine whether the mutation and the sequence change are on the same or on opposite chromosomes.


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Can anyone tell me what significance the Poly T stuff has? She said something about the Poly T's being 9 and 7T--that that doesn't indicate CF and when it's above 10 or 5T, that's usually what they see in CF. Not sure if I totally butchered this and misunderstood....I got a lot of information Monday.

Also, is there any bearing in the second "mutation" being considered a sequence change? Or does it still mean mutation which means CF? I asked some of this on the Ambry genetics thread but figured I'd just start a new thread here and hope some of you are able to clarify for me :)

Thanks!
 
B

Beccamom

New member
Congratulations on your baby. In limbo is a difficult place to be. I have CF, but I have a 15 year old still in limbo. You are doing everything right.

As for the variant 7T and 9T do not cause CF so that is good news. As for what intermediate numbers and low being better it probably does not matter since you are in limbo either way. As for the 2nd mutation having unknown significance this may or may not cause CF.


Your next step looks like testing mom and dad to find who has what mutations. If you are both healthy and one of you has both of your daughters mutations then your daughter has only only one of her CFTR genes mutated. It does not matter how many times the 1 CFTR gene is mutated because even 50% CFTR function is enough for health. If each parent has one of your daughters mutations then each of her CFTR genes are mutated and then she may or may not have enough CFTR function to remain healthy.

As for the 2nd CFTR finding being a sequence change that is describing how the CFTR gene is mutated. For example, CFTR mutations ending with x are stop codons.

Most people with CF are born with clear lungs and only some people with CF are pancreatic insufficient which causes failure to thrive. The fecal elastase test will tell younifnyour child is pancreatic insufficient and thus not absorbing fat and thus fat soluable vitamins.

Best wishes and enjoy your new baby.


Mama2Five said:
Here is what I know so far--we went to Children's hospital Monday to get the sweat test and consult. The sweat test results were indeterminate--one was 33 and the other was 30. For infants, anything 29 or less is considered negative. 30-59 is indeterminate meaning CF is possible, and 60+ is considered positive. So I'm not sure if there's any weight in the results being on the lower end of intermediate or if intermediate means intermediate whether 30 or 55.


Nothing is known about her second mutation, I1366T. So they said we're in a gray area based on the mutations--it's not a yes but it's not a no. Based on the sweat test, we're still in a gray area. She is otherwise thriving-83rd percentile for weight (has gained 1 lb 2 oz in 3 1/2 weeks), hitting every milestone for a newborn and has perfectly clear lungs. We go back in a month for genetic testing to find who has what and waiting for the throat swab and fecal elastase to come back which should be within a week. Basically covering all bases. As of right now, she is being considered CRMS.


Here is the results from the initial screening-


-----------------------------------------


CFTR DNA sequencing


Mutation 1-delF508
Mutation 2-I1366T-This sequence change was described in an asymptomatic carrier. No reports link this sequence change to CF. This clinical significance of this change in cystic fibrosis is therefore currently unknown.


Poly T/TG-(TG)10-7T/(TG)10-9T


This child carries one severe CF mutation and one sequence change of unknown clinical significance. Clinical followup for potential symptoms is recommended. Parent studies would be necessary to determine whether the mutation and the sequence change are on the same or on opposite chromosomes.


---------------------------------------


Can anyone tell me what significance the Poly T stuff has? She said something about the Poly T's being 9 and 7T--that that doesn't indicate CF and when it's above 10 or 5T, that's usually what they see in CF. Not sure if I totally butchered this and misunderstood....I got a lot of information Monday.

Also, is there any bearing in the second "mutation" being considered a sequence change? Or does it still mean mutation which means CF? I asked some of this on the Ambry genetics thread but figured I'd just start a new thread here and hope some of you are able to clarify for me :)

Thanks!
Click to expand...
 
L

lauryn.tubes

Guest
Hi! congrats on your new baby. I have a 6 month old who also has CRMS. I know how hard it is, so I thought i'd just let you know you're not alone!!

My daughter has d-f508 and then another rare mutation with varying effects (meaning it causes CF is some, and not in others). Anyway, in terms of the fecal elastase I just wanted to give you a heads up pointer I wish someone had given me. I was breast feeding my daughter and she started slipping in the weight percentile as she got older. Nothing to worry about, unless she has CRMS then doctors get a little worried. Apparently, breast milk has its own enzymes that help with digestion. If you start to introduce formula or solid food, the weight will start to slip because the body doesn't have the enzymes to digest those foods.

For my daughter, it ended up being an intake issue and she's PS, but I went through some serious stress over it and just wanted to give you a heads up. I wish I had known that prior to her dropping to the 3% for her height/weight ratio!

Best of luck mama. This forum has lots of information and support and I hope you're doing OK!
 
W

WildCherry

Guest
Hi Mama2Five,

Two years ago I could have been writing this exact same entry. A newborn with Df508 and a sweat test that just crossed over the intermediate range at 30. That sweat test is what sent us for a full genetic screen where they found a second mutation of unknown clinical significance. Just that some people with CF carried it. Our CF clinic recommended a repeat sweat test at 6 months of age which we did and it was in the normal range at 14. So from there, since this pesky second mutation had been found, we had to keep going back for follow ups as protocol suggests. His doctor was never on the CF side of the fence but this was just "protocol". When he was 18 months old I checked the CFTR2 website randomly one evening and looked at his second mutation and low and behold they had updated it's status to NON disease causing. We had a meeting with our doctor about a week later and he removed our son from their database and told us to have a nice life. He's as healthy as can be and it was all worry for nothing. My point is just to tell you that you are not alone. There were others who reached out to me with similar and identical stories all of which turned out like mine. If your doctor hasn't suggested it I would repeat the sweat test when he's a little older. Even though we didn't get the all clear then it was nice to know he was in the normal range.

Congrats on your new baby and I hope your story ends up like ours did!
 
M

Mama2Five

New member
WildCherry said:
Hi Mama2Five,

Two years ago I could have been writing this exact same entry. A newborn with Df508 and a sweat test that just crossed over the intermediate range at 30. That sweat test is what sent us for a full genetic screen where they found a second mutation of unknown clinical significance. Just that some people with CF carried it. Our CF clinic recommended a repeat sweat test at 6 months of age which we did and it was in the normal range at 14. So from there, since this pesky second mutation had been found, we had to keep going back for follow ups as protocol suggests. His doctor was never on the CF side of the fence but this was just "protocol". When he was 18 months old I checked the CFTR2 website randomly one evening and looked at his second mutation and low and behold they had updated it's status to NON disease causing. We had a meeting with our doctor about a week later and he removed our son from their database and told us to have a nice life. He's as healthy as can be and it was all worry for nothing. My point is just to tell you that you are not alone. There were others who reached out to me with similar and identical stories all of which turned out like mine. If your doctor hasn't suggested it I would repeat the sweat test when he's a little older. Even though we didn't get the all clear then it was nice to know he was in the normal range.

Congrats on your new baby and I hope your story ends up like ours did!
Click to expand...

Hey WildCherry, thanks so much for this post! I am very encouraged by your story, this is exactly what I am hoping for! We are doing a repeat sweat test between 4-6 months, it's the waiting and not knowing until then that is going to be very, very hard.
 
M

Mama2Five

New member
Update-Did our followup Monday.

Our daughter is now 8 weeks old tomorrow. Weighed in at 11.2 lbs (58 percentile). Fecal elastase was 400; getting another done because they were iffy with the lab I used up here (we are 1.5 hours from Children's Hospital Los Angeles). Throat culture from her appt at 4 weeks was normal; did another Monday.

Our genetic testing came back, the mutations are on opposite chromosomes. My husband has DF508 and I have I1366T. We follow up in a month, and should be repeating a sweat test in January or so.

Waiting is so hard!! So glad for the wealth of information and support here; I am confident that if we do get a confirmed diagnosis, that all will be okay.
 
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