UPDATED - The genetic results on Isaac are in.... not good :-( - UPDATED

mneville · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

Wow, you are in my thoughts and prayers. You are a responsible CFer, don't blame yourself.Look at your beautiful boy- would you change it? You will be able to take amazing care of him. He is yours for a reason.

Megan,mom to Aidan (CF) and Gavin (no CF)

mneville · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

Wow, you are in my thoughts and prayers. You are a responsible CFer, don't blame yourself.Look at your beautiful boy- would you change it? You will be able to take amazing care of him. He is yours for a reason.

Megan,mom to Aidan (CF) and Gavin (no CF)

mneville · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

Wow, you are in my thoughts and prayers. You are a responsible CFer, don't blame yourself.Look at your beautiful boy- would you change it? You will be able to take amazing care of him. He is yours for a reason.

Megan,mom to Aidan (CF) and Gavin (no CF)

mneville · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

Wow, you are in my thoughts and prayers. You are a responsible CFer, don't blame yourself.Look at your beautiful boy- would you change it? You will be able to take amazing care of him. He is yours for a reason.

Megan,mom to Aidan (CF) and Gavin (no CF)

mneville · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

Wow, you are in my thoughts and prayers. You are a responsible CFer, don't blame yourself.Look at your beautiful boy- would you change it? You will be able to take amazing care of him. He is yours for a reason.

Megan,mom to Aidan (CF) and Gavin (no CF)

Mommafirst · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

Oh no, Lauren, I am soooo sad to hear this. I'm also feeling angry for you as well -- this just seems like the very epitome of unfair!!!

For what its worth, I did a little snooping on his second mutation, and I found this article...

<div class="FTQUOTE"><begin quote>CFTR genotypes in patients with normal or borderline sweat chloride levels.Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E.
Laboratoire de Biochimie, Hôpital A. Trousseau, AP-HP, Paris, France. delphine.feldmann@trs.ap-hop-paris.fr

In recent years, some patients bearing "atypical" forms of cystic fibrosis (CF) with normal sweat chloride concentrations have been described. To identify the spectrum of mutant combinations causing such atypical CF, we collected the results of CFTR (ABCC7) mutation analysis from 15 laboratories. Thirty patients with one or more typical symptoms of the disease associated with normal or borderline sweat chloride levels and bearing two CFTR mutations were selected. Phenotypes and genotypes of these 30 patients are described. A total of 18 different CFTR mutations were observed in the 60 chromosomes analysed. F508del was present in 31.6 % of the mutated chromosomes and 3849+10kbC>T in 13.3 %. R117H, D1152H, L206W, 3272-26A>G, <span class="FTHighlightFont">S1235R</span ft>, G149R, R1070W, S945L, and the poly-T tract variation commonly called IVS8-5T were also observed. The relative frequency of CFTR mutations clearly differed from that observed in typical CF patients or in CBAVD patients with the same ethnic origin. A mild genotype with one or two mild or variable mutations was observed in all the patients. These findings improve our understanding of the distribution of CFTR alleles in CF with normal or borderline sweat chloride concentrations and will facilitate the development of more sensitive CFTR mutation screening. Copyright 2003 Wiley-Liss, Inc.

PMID: 12955726 [PubMed - indexed for MEDLINE]</end quote></div>

You did report that his sweat was very low, didn't you?

HUGS to you, I know the pain of this information and I wish no one other mother ever had to hear it!!!

Mommafirst · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

Oh no, Lauren, I am soooo sad to hear this. I'm also feeling angry for you as well -- this just seems like the very epitome of unfair!!!

For what its worth, I did a little snooping on his second mutation, and I found this article...

<div class="FTQUOTE"><begin quote>CFTR genotypes in patients with normal or borderline sweat chloride levels.Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E.
Laboratoire de Biochimie, Hôpital A. Trousseau, AP-HP, Paris, France. delphine.feldmann@trs.ap-hop-paris.fr

In recent years, some patients bearing "atypical" forms of cystic fibrosis (CF) with normal sweat chloride concentrations have been described. To identify the spectrum of mutant combinations causing such atypical CF, we collected the results of CFTR (ABCC7) mutation analysis from 15 laboratories. Thirty patients with one or more typical symptoms of the disease associated with normal or borderline sweat chloride levels and bearing two CFTR mutations were selected. Phenotypes and genotypes of these 30 patients are described. A total of 18 different CFTR mutations were observed in the 60 chromosomes analysed. F508del was present in 31.6 % of the mutated chromosomes and 3849+10kbC>T in 13.3 %. R117H, D1152H, L206W, 3272-26A>G, <span class="FTHighlightFont">S1235R</span ft>, G149R, R1070W, S945L, and the poly-T tract variation commonly called IVS8-5T were also observed. The relative frequency of CFTR mutations clearly differed from that observed in typical CF patients or in CBAVD patients with the same ethnic origin. A mild genotype with one or two mild or variable mutations was observed in all the patients. These findings improve our understanding of the distribution of CFTR alleles in CF with normal or borderline sweat chloride concentrations and will facilitate the development of more sensitive CFTR mutation screening. Copyright 2003 Wiley-Liss, Inc.

PMID: 12955726 [PubMed - indexed for MEDLINE]</end quote></div>

You did report that his sweat was very low, didn't you?

HUGS to you, I know the pain of this information and I wish no one other mother ever had to hear it!!!

Mommafirst · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

Oh no, Lauren, I am soooo sad to hear this. I'm also feeling angry for you as well -- this just seems like the very epitome of unfair!!!

For what its worth, I did a little snooping on his second mutation, and I found this article...

<div class="FTQUOTE"><begin quote>CFTR genotypes in patients with normal or borderline sweat chloride levels.Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E.
Laboratoire de Biochimie, Hôpital A. Trousseau, AP-HP, Paris, France. delphine.feldmann@trs.ap-hop-paris.fr

In recent years, some patients bearing "atypical" forms of cystic fibrosis (CF) with normal sweat chloride concentrations have been described. To identify the spectrum of mutant combinations causing such atypical CF, we collected the results of CFTR (ABCC7) mutation analysis from 15 laboratories. Thirty patients with one or more typical symptoms of the disease associated with normal or borderline sweat chloride levels and bearing two CFTR mutations were selected. Phenotypes and genotypes of these 30 patients are described. A total of 18 different CFTR mutations were observed in the 60 chromosomes analysed. F508del was present in 31.6 % of the mutated chromosomes and 3849+10kbC>T in 13.3 %. R117H, D1152H, L206W, 3272-26A>G, <span class="FTHighlightFont">S1235R</span ft>, G149R, R1070W, S945L, and the poly-T tract variation commonly called IVS8-5T were also observed. The relative frequency of CFTR mutations clearly differed from that observed in typical CF patients or in CBAVD patients with the same ethnic origin. A mild genotype with one or two mild or variable mutations was observed in all the patients. These findings improve our understanding of the distribution of CFTR alleles in CF with normal or borderline sweat chloride concentrations and will facilitate the development of more sensitive CFTR mutation screening. Copyright 2003 Wiley-Liss, Inc.

PMID: 12955726 [PubMed - indexed for MEDLINE]</end quote></div>

You did report that his sweat was very low, didn't you?

HUGS to you, I know the pain of this information and I wish no one other mother ever had to hear it!!!

Mommafirst · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

Oh no, Lauren, I am soooo sad to hear this. I'm also feeling angry for you as well -- this just seems like the very epitome of unfair!!!

For what its worth, I did a little snooping on his second mutation, and I found this article...

<div class="FTQUOTE"><begin quote>CFTR genotypes in patients with normal or borderline sweat chloride levels.Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E.
Laboratoire de Biochimie, Hôpital A. Trousseau, AP-HP, Paris, France. delphine.feldmann@trs.ap-hop-paris.fr

In recent years, some patients bearing "atypical" forms of cystic fibrosis (CF) with normal sweat chloride concentrations have been described. To identify the spectrum of mutant combinations causing such atypical CF, we collected the results of CFTR (ABCC7) mutation analysis from 15 laboratories. Thirty patients with one or more typical symptoms of the disease associated with normal or borderline sweat chloride levels and bearing two CFTR mutations were selected. Phenotypes and genotypes of these 30 patients are described. A total of 18 different CFTR mutations were observed in the 60 chromosomes analysed. F508del was present in 31.6 % of the mutated chromosomes and 3849+10kbC>T in 13.3 %. R117H, D1152H, L206W, 3272-26A>G, <span class="FTHighlightFont">S1235R</span ft>, G149R, R1070W, S945L, and the poly-T tract variation commonly called IVS8-5T were also observed. The relative frequency of CFTR mutations clearly differed from that observed in typical CF patients or in CBAVD patients with the same ethnic origin. A mild genotype with one or two mild or variable mutations was observed in all the patients. These findings improve our understanding of the distribution of CFTR alleles in CF with normal or borderline sweat chloride concentrations and will facilitate the development of more sensitive CFTR mutation screening. Copyright 2003 Wiley-Liss, Inc.

PMID: 12955726 [PubMed - indexed for MEDLINE]</end quote>

You did report that his sweat was very low, didn't you?

HUGS to you, I know the pain of this information and I wish no one other mother ever had to hear it!!!

Mommafirst · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

Oh no, Lauren, I am soooo sad to hear this. I'm also feeling angry for you as well -- this just seems like the very epitome of unfair!!!

For what its worth, I did a little snooping on his second mutation, and I found this article...

<div class="FTQUOTE"><begin quote>CFTR genotypes in patients with normal or borderline sweat chloride levels.Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E.
Laboratoire de Biochimie, Hôpital A. Trousseau, AP-HP, Paris, France. delphine.feldmann@trs.ap-hop-paris.fr

In recent years, some patients bearing "atypical" forms of cystic fibrosis (CF) with normal sweat chloride concentrations have been described. To identify the spectrum of mutant combinations causing such atypical CF, we collected the results of CFTR (ABCC7) mutation analysis from 15 laboratories. Thirty patients with one or more typical symptoms of the disease associated with normal or borderline sweat chloride levels and bearing two CFTR mutations were selected. Phenotypes and genotypes of these 30 patients are described. A total of 18 different CFTR mutations were observed in the 60 chromosomes analysed. F508del was present in 31.6 % of the mutated chromosomes and 3849+10kbC>T in 13.3 %. R117H, D1152H, L206W, 3272-26A>G, <span class="FTHighlightFont">S1235R</span ft>, G149R, R1070W, S945L, and the poly-T tract variation commonly called IVS8-5T were also observed. The relative frequency of CFTR mutations clearly differed from that observed in typical CF patients or in CBAVD patients with the same ethnic origin. A mild genotype with one or two mild or variable mutations was observed in all the patients. These findings improve our understanding of the distribution of CFTR alleles in CF with normal or borderline sweat chloride concentrations and will facilitate the development of more sensitive CFTR mutation screening. Copyright 2003 Wiley-Liss, Inc.

PMID: 12955726 [PubMed - indexed for MEDLINE]</end quote>

You did report that his sweat was very low, didn't you?

HUGS to you, I know the pain of this information and I wish no one other mother ever had to hear it!!!

JazzysMom · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

I had to reread your title a few times to make sure what I thought I read was right. I dont know what to say.

I do think that caring for a baby would have slight differences then yourself. I am sure you have a bunch of guilt happening here, but try not to let it consume you.

HUGS to you my friend for I have no true words of comfort!

We are here for you!

JazzysMom · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

I had to reread your title a few times to make sure what I thought I read was right. I dont know what to say.

I do think that caring for a baby would have slight differences then yourself. I am sure you have a bunch of guilt happening here, but try not to let it consume you.

HUGS to you my friend for I have no true words of comfort!

We are here for you!

JazzysMom · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

I had to reread your title a few times to make sure what I thought I read was right. I dont know what to say.

I do think that caring for a baby would have slight differences then yourself. I am sure you have a bunch of guilt happening here, but try not to let it consume you.

HUGS to you my friend for I have no true words of comfort!

We are here for you!

JazzysMom · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

I had to reread your title a few times to make sure what I thought I read was right. I dont know what to say.

I do think that caring for a baby would have slight differences then yourself. I am sure you have a bunch of guilt happening here, but try not to let it consume you.

HUGS to you my friend for I have no true words of comfort!

We are here for you!

JazzysMom · Oct 10, 2007

The genetic results on Isaac are in.... not good :-(

I had to reread your title a few times to make sure what I thought I read was right. I dont know what to say.

I do think that caring for a baby would have slight differences then yourself. I am sure you have a bunch of guilt happening here, but try not to let it consume you.

HUGS to you my friend for I have no true words of comfort!

We are here for you!

julie · Oct 10, 2007