Laras results

Alyssa · Aug 9, 2007

Well, there isn't much to add, the others have done such a great job already!

I just want to emphasis again about the first visit. Do expect to spend at least 3-4 hours there. Most appointments are a series of different tasks - you will do and talk about different things with different people and they all come and go from the room (and you also may leave - going for a chest x-ray or pulmonary function tests)

I'm sorry I don't remember anything about the age of you child(ren) but if you have other children try to make other arrangements for them that day and bring your own entertainment and snacks for Lara (assuming she is not an infant). Also consider bringing a support person with you... husband/mother/friend whoever you feel is best and a note book or tape recorder. I purchased a really good voice recorder for our first visit because my husband was not able to come with me. I did go back and listen to a couple of the sections later on and it gave me piece of mind to know that I wasn't missing something or hearing it incorrectly. You will be talking about so many different things that day, you will tend to forget parts of it. It's nice to know the tape is rolling.

If you have time, you could read my first entry on blog page about my kids because they too have been diagnosed as A-Typical. I just added an update about them. My daughter is 19 years old, my son is 21.

Alyssa · Aug 9, 2007

Well, there isn't much to add, the others have done such a great job already!

I just want to emphasis again about the first visit. Do expect to spend at least 3-4 hours there. Most appointments are a series of different tasks - you will do and talk about different things with different people and they all come and go from the room (and you also may leave - going for a chest x-ray or pulmonary function tests)

I'm sorry I don't remember anything about the age of you child(ren) but if you have other children try to make other arrangements for them that day and bring your own entertainment and snacks for Lara (assuming she is not an infant). Also consider bringing a support person with you... husband/mother/friend whoever you feel is best and a note book or tape recorder. I purchased a really good voice recorder for our first visit because my husband was not able to come with me. I did go back and listen to a couple of the sections later on and it gave me piece of mind to know that I wasn't missing something or hearing it incorrectly. You will be talking about so many different things that day, you will tend to forget parts of it. It's nice to know the tape is rolling.

If you have time, you could read my first entry on blog page about my kids because they too have been diagnosed as A-Typical. I just added an update about them. My daughter is 19 years old, my son is 21.

Alyssa · Aug 9, 2007

Well, there isn't much to add, the others have done such a great job already!

I just want to emphasis again about the first visit. Do expect to spend at least 3-4 hours there. Most appointments are a series of different tasks - you will do and talk about different things with different people and they all come and go from the room (and you also may leave - going for a chest x-ray or pulmonary function tests)

I'm sorry I don't remember anything about the age of you child(ren) but if you have other children try to make other arrangements for them that day and bring your own entertainment and snacks for Lara (assuming she is not an infant). Also consider bringing a support person with you... husband/mother/friend whoever you feel is best and a note book or tape recorder. I purchased a really good voice recorder for our first visit because my husband was not able to come with me. I did go back and listen to a couple of the sections later on and it gave me piece of mind to know that I wasn't missing something or hearing it incorrectly. You will be talking about so many different things that day, you will tend to forget parts of it. It's nice to know the tape is rolling.

If you have time, you could read my first entry on blog page about my kids because they too have been diagnosed as A-Typical. I just added an update about them. My daughter is 19 years old, my son is 21.

Alyssa · Aug 9, 2007

Well, there isn't much to add, the others have done such a great job already!

I just want to emphasis again about the first visit. Do expect to spend at least 3-4 hours there. Most appointments are a series of different tasks - you will do and talk about different things with different people and they all come and go from the room (and you also may leave - going for a chest x-ray or pulmonary function tests)

I'm sorry I don't remember anything about the age of you child(ren) but if you have other children try to make other arrangements for them that day and bring your own entertainment and snacks for Lara (assuming she is not an infant). Also consider bringing a support person with you... husband/mother/friend whoever you feel is best and a note book or tape recorder. I purchased a really good voice recorder for our first visit because my husband was not able to come with me. I did go back and listen to a couple of the sections later on and it gave me piece of mind to know that I wasn't missing something or hearing it incorrectly. You will be talking about so many different things that day, you will tend to forget parts of it. It's nice to know the tape is rolling.

If you have time, you could read my first entry on blog page about my kids because they too have been diagnosed as A-Typical. I just added an update about them. My daughter is 19 years old, my son is 21.

Alyssa · Aug 9, 2007

Well, there isn't much to add, the others have done such a great job already!

I just want to emphasis again about the first visit. Do expect to spend at least 3-4 hours there. Most appointments are a series of different tasks - you will do and talk about different things with different people and they all come and go from the room (and you also may leave - going for a chest x-ray or pulmonary function tests)

I'm sorry I don't remember anything about the age of you child(ren) but if you have other children try to make other arrangements for them that day and bring your own entertainment and snacks for Lara (assuming she is not an infant). Also consider bringing a support person with you... husband/mother/friend whoever you feel is best and a note book or tape recorder. I purchased a really good voice recorder for our first visit because my husband was not able to come with me. I did go back and listen to a couple of the sections later on and it gave me piece of mind to know that I wasn't missing something or hearing it incorrectly. You will be talking about so many different things that day, you will tend to forget parts of it. It's nice to know the tape is rolling.

If you have time, you could read my first entry on blog page about my kids because they too have been diagnosed as A-Typical. I just added an update about them. My daughter is 19 years old, my son is 21.

CFHockeyMom · Aug 9, 2007

Rare and common have nothing to do with gene class which is more commonly associated with clinical outcome.

I'll agree with Heather that your Dr. is probably remiss in telling you that the R75Q isn't common. It definitely isn't as common as DF508 but that doesn't make it uncommon.

Here is some info I found in my various papers I've collected along the way...

<div class="FTQUOTE"><begin quote>Cystic Fibrosis Transmembrane Conductance Regulator
The R75Q mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) occurs in high frequency in patients with atypical mild cystic fibrosis, bronchiectasis, and allergic bronchopulmonary aspergillosis.</end quote></div>

<div class="FTQUOTE"><begin quote>A substitution of arginine for glutamine at codon 75 in exon 3 was found on five chromosomes. This R75Q variant is not thought to cause multiorgan CF but has been found to be associated with atypical CF manifestations, such as CAVD and bronchiectasis. This amino acid variant was also found in two out of 200 normal alleles but was not detected on 412 CF chromosomes. Thus, the R75Q allele is significantly more frequent in our group of atypical CF patients than in the general population. This observation suggests an association of the R75Q substitution with mild CF symptoms, as proposed by Zielenski and Tsui.</end quote></div>

R75Q is considered a Class IV mutation which results in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency.

Here is some info Allie posted on gene classes...

<div class="FTQUOTE"><begin quote>Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es

BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.
</end quote></div>

All that said, we have plenty of people on the forum here that have the same genotypes but completely different clinical outcomes. Environment, compliance, quality of care, and luck all contribute to clinical outcome.

CFHockeyMom · Aug 9, 2007

Rare and common have nothing to do with gene class which is more commonly associated with clinical outcome.

I'll agree with Heather that your Dr. is probably remiss in telling you that the R75Q isn't common. It definitely isn't as common as DF508 but that doesn't make it uncommon.

Here is some info I found in my various papers I've collected along the way...

<div class="FTQUOTE"><begin quote>Cystic Fibrosis Transmembrane Conductance Regulator
The R75Q mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) occurs in high frequency in patients with atypical mild cystic fibrosis, bronchiectasis, and allergic bronchopulmonary aspergillosis.</end quote></div>

<div class="FTQUOTE"><begin quote>A substitution of arginine for glutamine at codon 75 in exon 3 was found on five chromosomes. This R75Q variant is not thought to cause multiorgan CF but has been found to be associated with atypical CF manifestations, such as CAVD and bronchiectasis. This amino acid variant was also found in two out of 200 normal alleles but was not detected on 412 CF chromosomes. Thus, the R75Q allele is significantly more frequent in our group of atypical CF patients than in the general population. This observation suggests an association of the R75Q substitution with mild CF symptoms, as proposed by Zielenski and Tsui.</end quote></div>

R75Q is considered a Class IV mutation which results in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency.

Here is some info Allie posted on gene classes...

<div class="FTQUOTE"><begin quote>Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es

BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.
</end quote></div>

All that said, we have plenty of people on the forum here that have the same genotypes but completely different clinical outcomes. Environment, compliance, quality of care, and luck all contribute to clinical outcome.

CFHockeyMom · Aug 9, 2007

Rare and common have nothing to do with gene class which is more commonly associated with clinical outcome.

I'll agree with Heather that your Dr. is probably remiss in telling you that the R75Q isn't common. It definitely isn't as common as DF508 but that doesn't make it uncommon.

Here is some info I found in my various papers I've collected along the way...

<div class="FTQUOTE"><begin quote>Cystic Fibrosis Transmembrane Conductance Regulator
The R75Q mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) occurs in high frequency in patients with atypical mild cystic fibrosis, bronchiectasis, and allergic bronchopulmonary aspergillosis.</end quote></div>

<div class="FTQUOTE"><begin quote>A substitution of arginine for glutamine at codon 75 in exon 3 was found on five chromosomes. This R75Q variant is not thought to cause multiorgan CF but has been found to be associated with atypical CF manifestations, such as CAVD and bronchiectasis. This amino acid variant was also found in two out of 200 normal alleles but was not detected on 412 CF chromosomes. Thus, the R75Q allele is significantly more frequent in our group of atypical CF patients than in the general population. This observation suggests an association of the R75Q substitution with mild CF symptoms, as proposed by Zielenski and Tsui.</end quote></div>

R75Q is considered a Class IV mutation which results in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency.

Here is some info Allie posted on gene classes...

<div class="FTQUOTE"><begin quote>Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es

BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.
</end quote></div>

All that said, we have plenty of people on the forum here that have the same genotypes but completely different clinical outcomes. Environment, compliance, quality of care, and luck all contribute to clinical outcome.

CFHockeyMom · Aug 9, 2007

Rare and common have nothing to do with gene class which is more commonly associated with clinical outcome.

I'll agree with Heather that your Dr. is probably remiss in telling you that the R75Q isn't common. It definitely isn't as common as DF508 but that doesn't make it uncommon.

Here is some info I found in my various papers I've collected along the way...

<div class="FTQUOTE"><begin quote>Cystic Fibrosis Transmembrane Conductance Regulator
The R75Q mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) occurs in high frequency in patients with atypical mild cystic fibrosis, bronchiectasis, and allergic bronchopulmonary aspergillosis.</end quote>

<div class="FTQUOTE"><begin quote>A substitution of arginine for glutamine at codon 75 in exon 3 was found on five chromosomes. This R75Q variant is not thought to cause multiorgan CF but has been found to be associated with atypical CF manifestations, such as CAVD and bronchiectasis. This amino acid variant was also found in two out of 200 normal alleles but was not detected on 412 CF chromosomes. Thus, the R75Q allele is significantly more frequent in our group of atypical CF patients than in the general population. This observation suggests an association of the R75Q substitution with mild CF symptoms, as proposed by Zielenski and Tsui.</end quote>

R75Q is considered a Class IV mutation which results in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency.

Here is some info Allie posted on gene classes...

<div class="FTQUOTE"><begin quote>Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es

BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.
</end quote>

All that said, we have plenty of people on the forum here that have the same genotypes but completely different clinical outcomes. Environment, compliance, quality of care, and luck all contribute to clinical outcome.

CFHockeyMom · Aug 9, 2007

Rare and common have nothing to do with gene class which is more commonly associated with clinical outcome.

I'll agree with Heather that your Dr. is probably remiss in telling you that the R75Q isn't common. It definitely isn't as common as DF508 but that doesn't make it uncommon.

Here is some info I found in my various papers I've collected along the way...

<div class="FTQUOTE"><begin quote>Cystic Fibrosis Transmembrane Conductance Regulator
The R75Q mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) occurs in high frequency in patients with atypical mild cystic fibrosis, bronchiectasis, and allergic bronchopulmonary aspergillosis.</end quote>

<div class="FTQUOTE"><begin quote>A substitution of arginine for glutamine at codon 75 in exon 3 was found on five chromosomes. This R75Q variant is not thought to cause multiorgan CF but has been found to be associated with atypical CF manifestations, such as CAVD and bronchiectasis. This amino acid variant was also found in two out of 200 normal alleles but was not detected on 412 CF chromosomes. Thus, the R75Q allele is significantly more frequent in our group of atypical CF patients than in the general population. This observation suggests an association of the R75Q substitution with mild CF symptoms, as proposed by Zielenski and Tsui.</end quote>

R75Q is considered a Class IV mutation which results in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency.

Here is some info Allie posted on gene classes...

<div class="FTQUOTE"><begin quote>Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es

BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.
</end quote>

All that said, we have plenty of people on the forum here that have the same genotypes but completely different clinical outcomes. Environment, compliance, quality of care, and luck all contribute to clinical outcome.

Patricia12569 · Aug 9, 2007