mom2lillian
New member
*warning: soapbox being deployed but only for the good of my fellow cf'ers*
I included a 'textbook' below of how they are using it. Unfortunately I feel it is applied all over the place now to make us 'feel' better. Once I came to terms with the fact that the labels of atypical and mild did not mean I wouldnt progress just like everyone else I hoped on the compliance bandwagon, my only regret is not doing it sooner.
I was diagnosed at 21 years of age which is atypical, I am overweight which is atypical, my last FEV1 was 100% which is atypical for a 30yo, however I am currently on zosyn, tobramycin, and prednisone which is typical sooooo I ask you what good calling anything atypical does besides, in my opinion, give us a false sense of security.
If in 5 years I have impaired GI mobility and have contracted B.Cepacia and my numbers are 50% I have very little hope that the 'atypical' diagnosis @ 21 years of age will make a big difference.
I think there are so many variations I prefer to see CF classified as a genetic mutation that makes you have a higher likelihood of developing multiple diseases in multiple systems. Then that would help with this atypical grayish stuff as it would be classified to what impairments you have.
I would then be a 30 y/o cf'er with bronchiectasis, ABPA, and mild pulmonary impairment. Mild GI impairment limited to GERD and borderline diabetes.
Isn't that so much easier than 'atypical' which I have seen applied to people dx late in life that are at 50% or a 4 year old who as of yet doesnt culture anything or have exacerbations or someone on a transplant list that has a 'predominantly mild' mutation.
<i>Although classic CF is diagnosed in infancy or early childhood, atypical cases of CF may be diagnosed in adults with mild monosymptomatic diseases such as congenital bilateral absence of the vas deferens (CBAVD), chronic pancreatitis, sinusitis, diffuse bronchectasia, acute and recurrent pancreatitis, and nasal polyps.13 Individuals with atypical CF phenotypes are often compound heterozygotes carrying one severe and one mild CFTR mutation, or they are homozygous for the 5T variant. Several cases of compound heterozygotes (F508del/R347H) have been reported. Affected males have CBAVD and respiratory tract symptoms, whereas an affected female was described with mild pulmonary symptoms, paranasal polyposis, and a normal sweat chloride test.14 A study of patients with chronic sinusitis showed an increased frequency of compound heterozygosity of the M470V polymorphism in combination with a severe mutation.13 Individuals with atypical CF should be given several examinations, including sweat chloride testing; DNA mutation analysis for mild and severe CFTR alleles, including the 5T variant; and nasal potential difference testing to evaluate the physiologic functioning of the CFTR. Although patients with chronic rhinosinusitis, allergic bronchopulmonary aspergillosis, and asthma are more likely to have a non-CF genetic or environmental reason for their conditions, there remains an increased occurrence of CFTR mutations.15,16</i>
I included a 'textbook' below of how they are using it. Unfortunately I feel it is applied all over the place now to make us 'feel' better. Once I came to terms with the fact that the labels of atypical and mild did not mean I wouldnt progress just like everyone else I hoped on the compliance bandwagon, my only regret is not doing it sooner.
I was diagnosed at 21 years of age which is atypical, I am overweight which is atypical, my last FEV1 was 100% which is atypical for a 30yo, however I am currently on zosyn, tobramycin, and prednisone which is typical sooooo I ask you what good calling anything atypical does besides, in my opinion, give us a false sense of security.
If in 5 years I have impaired GI mobility and have contracted B.Cepacia and my numbers are 50% I have very little hope that the 'atypical' diagnosis @ 21 years of age will make a big difference.
I think there are so many variations I prefer to see CF classified as a genetic mutation that makes you have a higher likelihood of developing multiple diseases in multiple systems. Then that would help with this atypical grayish stuff as it would be classified to what impairments you have.
I would then be a 30 y/o cf'er with bronchiectasis, ABPA, and mild pulmonary impairment. Mild GI impairment limited to GERD and borderline diabetes.
Isn't that so much easier than 'atypical' which I have seen applied to people dx late in life that are at 50% or a 4 year old who as of yet doesnt culture anything or have exacerbations or someone on a transplant list that has a 'predominantly mild' mutation.
<i>Although classic CF is diagnosed in infancy or early childhood, atypical cases of CF may be diagnosed in adults with mild monosymptomatic diseases such as congenital bilateral absence of the vas deferens (CBAVD), chronic pancreatitis, sinusitis, diffuse bronchectasia, acute and recurrent pancreatitis, and nasal polyps.13 Individuals with atypical CF phenotypes are often compound heterozygotes carrying one severe and one mild CFTR mutation, or they are homozygous for the 5T variant. Several cases of compound heterozygotes (F508del/R347H) have been reported. Affected males have CBAVD and respiratory tract symptoms, whereas an affected female was described with mild pulmonary symptoms, paranasal polyposis, and a normal sweat chloride test.14 A study of patients with chronic sinusitis showed an increased frequency of compound heterozygosity of the M470V polymorphism in combination with a severe mutation.13 Individuals with atypical CF should be given several examinations, including sweat chloride testing; DNA mutation analysis for mild and severe CFTR alleles, including the 5T variant; and nasal potential difference testing to evaluate the physiologic functioning of the CFTR. Although patients with chronic rhinosinusitis, allergic bronchopulmonary aspergillosis, and asthma are more likely to have a non-CF genetic or environmental reason for their conditions, there remains an increased occurrence of CFTR mutations.15,16</i>