10 months old... still no diagnosis

M

MommytoAva

Guest
Hi everyone- I hope that someone out there might have gone through a similar situation to mine and can offer some help. Here is my story.

I live in NJ, where CF screening is part of the normal newborn screening. I didn't worry about this, because my prenatal testing had come back negative for CF. Well, when my daughter was one week old her peditrician called us with the news that Ava had tested above normal for CF. I was thunderstruck, to say the least.

We are lucky enough to live 3 minutes from a CF center and were able to get Ava in that week. She had a sweat test-- but of course she did not sweat enough (really, she didn't sweat at all). We did a pancreatic elastease test done which came back negative. We had two more repeat tests with no results before the doctor finally did genetic testing. You would think that this would give us answers... but it didn't. Ava does not have 2 recessive CF genes, but she has one (from my husband-- I think the Delta one you all speak of) and then the T5 allele (from me). So, she is definitely a carrier, but maybe will be more than that.

Today we had a fourth sweat test with no results. This is horribly frustrating. Ava is being treated as a CF patient by her pulmonologist but thusfar has had nothing but normal results. She is in the 25%ile for growth, two good sputum checks... but I feel like I am leaving in limbo.

Not sure if any of you can help-- but I knew that would understand.

Tara, Mommy to Ava (1.6.06)
 
M

MommytoAva

Guest
Hi everyone- I hope that someone out there might have gone through a similar situation to mine and can offer some help. Here is my story.

I live in NJ, where CF screening is part of the normal newborn screening. I didn't worry about this, because my prenatal testing had come back negative for CF. Well, when my daughter was one week old her peditrician called us with the news that Ava had tested above normal for CF. I was thunderstruck, to say the least.

We are lucky enough to live 3 minutes from a CF center and were able to get Ava in that week. She had a sweat test-- but of course she did not sweat enough (really, she didn't sweat at all). We did a pancreatic elastease test done which came back negative. We had two more repeat tests with no results before the doctor finally did genetic testing. You would think that this would give us answers... but it didn't. Ava does not have 2 recessive CF genes, but she has one (from my husband-- I think the Delta one you all speak of) and then the T5 allele (from me). So, she is definitely a carrier, but maybe will be more than that.

Today we had a fourth sweat test with no results. This is horribly frustrating. Ava is being treated as a CF patient by her pulmonologist but thusfar has had nothing but normal results. She is in the 25%ile for growth, two good sputum checks... but I feel like I am leaving in limbo.

Not sure if any of you can help-- but I knew that would understand.

Tara, Mommy to Ava (1.6.06)
 
M

MommytoAva

Guest
Hi everyone- I hope that someone out there might have gone through a similar situation to mine and can offer some help. Here is my story.

I live in NJ, where CF screening is part of the normal newborn screening. I didn't worry about this, because my prenatal testing had come back negative for CF. Well, when my daughter was one week old her peditrician called us with the news that Ava had tested above normal for CF. I was thunderstruck, to say the least.

We are lucky enough to live 3 minutes from a CF center and were able to get Ava in that week. She had a sweat test-- but of course she did not sweat enough (really, she didn't sweat at all). We did a pancreatic elastease test done which came back negative. We had two more repeat tests with no results before the doctor finally did genetic testing. You would think that this would give us answers... but it didn't. Ava does not have 2 recessive CF genes, but she has one (from my husband-- I think the Delta one you all speak of) and then the T5 allele (from me). So, she is definitely a carrier, but maybe will be more than that.

Today we had a fourth sweat test with no results. This is horribly frustrating. Ava is being treated as a CF patient by her pulmonologist but thusfar has had nothing but normal results. She is in the 25%ile for growth, two good sputum checks... but I feel like I am leaving in limbo.

Not sure if any of you can help-- but I knew that would understand.

Tara, Mommy to Ava (1.6.06)
 
M

Mommafirst

Guest
Hi Tara,

Gosh you have been through a lot. My daughter is also 10 months old (well will be in a few days). She was born with meconium illeus, but with no other symptoms (working pancreas, etc.) they weren't convinced the MI was CF based. We went through the whole lack of sweat thing, and after the larger genetic screen were determined that she has 2 genes, so its = to CF. But because her second mutation is sooo rare, and isn't known to cause many symptoms, we are told they don't know how this is all going to progress. The reason I'm telling you our story is because I totally understand your feeling of limbo. Somewhere along the line, I have decided to just embrace the diagnosis and do all the preventative treatment as if she will someday develop symptoms. I'm just too afraid NOT to. I figure I'll do everything I can to preserve her health, and if she doesn't develop symptoms, then fabulous. But if I don't do everything I can, and her lung functioning diminishes, then I feel like its my fault. I hope this makes sense, but this is what I've done to cope with the limbo.

I hope you get some answers. It seems like its pretty difficult to get an "all clear" from CF, only limbo or diagnosis.

Welcome to the site!!!
 
M

Mommafirst

Guest
Hi Tara,

Gosh you have been through a lot. My daughter is also 10 months old (well will be in a few days). She was born with meconium illeus, but with no other symptoms (working pancreas, etc.) they weren't convinced the MI was CF based. We went through the whole lack of sweat thing, and after the larger genetic screen were determined that she has 2 genes, so its = to CF. But because her second mutation is sooo rare, and isn't known to cause many symptoms, we are told they don't know how this is all going to progress. The reason I'm telling you our story is because I totally understand your feeling of limbo. Somewhere along the line, I have decided to just embrace the diagnosis and do all the preventative treatment as if she will someday develop symptoms. I'm just too afraid NOT to. I figure I'll do everything I can to preserve her health, and if she doesn't develop symptoms, then fabulous. But if I don't do everything I can, and her lung functioning diminishes, then I feel like its my fault. I hope this makes sense, but this is what I've done to cope with the limbo.

I hope you get some answers. It seems like its pretty difficult to get an "all clear" from CF, only limbo or diagnosis.

Welcome to the site!!!
 
M

Mommafirst

Guest
Hi Tara,

Gosh you have been through a lot. My daughter is also 10 months old (well will be in a few days). She was born with meconium illeus, but with no other symptoms (working pancreas, etc.) they weren't convinced the MI was CF based. We went through the whole lack of sweat thing, and after the larger genetic screen were determined that she has 2 genes, so its = to CF. But because her second mutation is sooo rare, and isn't known to cause many symptoms, we are told they don't know how this is all going to progress. The reason I'm telling you our story is because I totally understand your feeling of limbo. Somewhere along the line, I have decided to just embrace the diagnosis and do all the preventative treatment as if she will someday develop symptoms. I'm just too afraid NOT to. I figure I'll do everything I can to preserve her health, and if she doesn't develop symptoms, then fabulous. But if I don't do everything I can, and her lung functioning diminishes, then I feel like its my fault. I hope this makes sense, but this is what I've done to cope with the limbo.

I hope you get some answers. It seems like its pretty difficult to get an "all clear" from CF, only limbo or diagnosis.

Welcome to the site!!!
 
M

MommytoAva

Guest
Heather-- I had read your story before I posted... it definitely reminded me of us! Our genetic screening really only complicated matters more for us... because what Ava has is relatively uncommon. Luckily, she was born a little girl, because had she been a boy she would have been born infertile due to CAVB (result of the T5 thing, I think). And so far she is healthy-- hopefully your little Alyssa is too (she's only 12 days younger than Ava!). As I said, we are lucky that we have so many resources at our fingertips. We are not giving up on the sweat testing (although I'm sure we'll end up with "borderline" results-- par for the course)... we'll just wait another six months and try again. Yesterday we did her end of the year bloodwork/chest xray, so I'll head back to the doctor with her on the 30th to find out the results on that.

And we take Ava to Morristown Memorial Hospital-- it was designated a CF center last year, I think. It is literally a mile from my house.
 
M

MommytoAva

Guest
Heather-- I had read your story before I posted... it definitely reminded me of us! Our genetic screening really only complicated matters more for us... because what Ava has is relatively uncommon. Luckily, she was born a little girl, because had she been a boy she would have been born infertile due to CAVB (result of the T5 thing, I think). And so far she is healthy-- hopefully your little Alyssa is too (she's only 12 days younger than Ava!). As I said, we are lucky that we have so many resources at our fingertips. We are not giving up on the sweat testing (although I'm sure we'll end up with "borderline" results-- par for the course)... we'll just wait another six months and try again. Yesterday we did her end of the year bloodwork/chest xray, so I'll head back to the doctor with her on the 30th to find out the results on that.

And we take Ava to Morristown Memorial Hospital-- it was designated a CF center last year, I think. It is literally a mile from my house.
 
M

MommytoAva

Guest
Heather-- I had read your story before I posted... it definitely reminded me of us! Our genetic screening really only complicated matters more for us... because what Ava has is relatively uncommon. Luckily, she was born a little girl, because had she been a boy she would have been born infertile due to CAVB (result of the T5 thing, I think). And so far she is healthy-- hopefully your little Alyssa is too (she's only 12 days younger than Ava!). As I said, we are lucky that we have so many resources at our fingertips. We are not giving up on the sweat testing (although I'm sure we'll end up with "borderline" results-- par for the course)... we'll just wait another six months and try again. Yesterday we did her end of the year bloodwork/chest xray, so I'll head back to the doctor with her on the 30th to find out the results on that.

And we take Ava to Morristown Memorial Hospital-- it was designated a CF center last year, I think. It is literally a mile from my house.
 
A

annonymous

New member
I understand your situation all too well. We have been on the same journey since my son was born in January. In fact, he is 6 days younger than your little one. I am so happy to see that your dd is doing well! We have so much to be thankful for, considering what so many others have been through. DS was picked up on the NBS too, however, we had a second one done that was totally normal. He even had an elastase test done at 2wks that showed him to be severely pancreatic insufficient. And he had a second one done that was totally normal too. Ambry found ONE mutation, thus making his genetic test negative. We did have a low positive sweat test when he was 2wks old, but even those are borderline now. Everything keeps coming back normal. It was so hard hearing those initial results and it felt (and still feels) like a miracle that those results are turning around. He just turned 10mo on Sunday and is a whopping 23 lbs, so growth is good too. Absolutely no symptoms at all. And believe me, I was looking for them quite obsessively. I have scaled back on the worrying and I just try to enjoy my children without CF on the forefront of my mind. You know how people say to trust your instincts if you think there is something wrong with your child? Well, from the beginning, my instincts have always said that my son is fine. It's not always easy. Sometimes I would scare myself silly by taking in too much information. And there have been so many nights where I've cried myself to sleep. It is definitely a heartwrenching journey, but my faith is strong and we are hanging in there. We are definitely aware of what to look for and we still see the pulmonologist occasionally, but that may soon change. There is so much more to our story, but I mainly just wanted to say that I understand what you are going through and I hope that all remains well with your child. We choose to stay positive and even if the worst did happen, there is so much hope for the future!!! Good Luck!

Misty
 
A

annonymous

New member
I understand your situation all too well. We have been on the same journey since my son was born in January. In fact, he is 6 days younger than your little one. I am so happy to see that your dd is doing well! We have so much to be thankful for, considering what so many others have been through. DS was picked up on the NBS too, however, we had a second one done that was totally normal. He even had an elastase test done at 2wks that showed him to be severely pancreatic insufficient. And he had a second one done that was totally normal too. Ambry found ONE mutation, thus making his genetic test negative. We did have a low positive sweat test when he was 2wks old, but even those are borderline now. Everything keeps coming back normal. It was so hard hearing those initial results and it felt (and still feels) like a miracle that those results are turning around. He just turned 10mo on Sunday and is a whopping 23 lbs, so growth is good too. Absolutely no symptoms at all. And believe me, I was looking for them quite obsessively. I have scaled back on the worrying and I just try to enjoy my children without CF on the forefront of my mind. You know how people say to trust your instincts if you think there is something wrong with your child? Well, from the beginning, my instincts have always said that my son is fine. It's not always easy. Sometimes I would scare myself silly by taking in too much information. And there have been so many nights where I've cried myself to sleep. It is definitely a heartwrenching journey, but my faith is strong and we are hanging in there. We are definitely aware of what to look for and we still see the pulmonologist occasionally, but that may soon change. There is so much more to our story, but I mainly just wanted to say that I understand what you are going through and I hope that all remains well with your child. We choose to stay positive and even if the worst did happen, there is so much hope for the future!!! Good Luck!

Misty
 
A

annonymous

New member
I understand your situation all too well. We have been on the same journey since my son was born in January. In fact, he is 6 days younger than your little one. I am so happy to see that your dd is doing well! We have so much to be thankful for, considering what so many others have been through. DS was picked up on the NBS too, however, we had a second one done that was totally normal. He even had an elastase test done at 2wks that showed him to be severely pancreatic insufficient. And he had a second one done that was totally normal too. Ambry found ONE mutation, thus making his genetic test negative. We did have a low positive sweat test when he was 2wks old, but even those are borderline now. Everything keeps coming back normal. It was so hard hearing those initial results and it felt (and still feels) like a miracle that those results are turning around. He just turned 10mo on Sunday and is a whopping 23 lbs, so growth is good too. Absolutely no symptoms at all. And believe me, I was looking for them quite obsessively. I have scaled back on the worrying and I just try to enjoy my children without CF on the forefront of my mind. You know how people say to trust your instincts if you think there is something wrong with your child? Well, from the beginning, my instincts have always said that my son is fine. It's not always easy. Sometimes I would scare myself silly by taking in too much information. And there have been so many nights where I've cried myself to sleep. It is definitely a heartwrenching journey, but my faith is strong and we are hanging in there. We are definitely aware of what to look for and we still see the pulmonologist occasionally, but that may soon change. There is so much more to our story, but I mainly just wanted to say that I understand what you are going through and I hope that all remains well with your child. We choose to stay positive and even if the worst did happen, there is so much hope for the future!!! Good Luck!

Misty
 
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