Hi all,I just thought I'd add my info here in case it helps someone down the road. I'm a 34 year-old active duty Marine and was just diagnosed last month as a side effect of determining that I have CBAVD. I have a p.L467P mutation and a 5T variant. I have tested positive on two sweat chloride tests, but am pancreatic sufficient and have no discernible lung damage. I was very small as a child - 45 lbs at age 10, didn't break 100 lbs until age 16-17. I remember having the oily stools and frequent constipation when I was small, but it's possible that it was due to diet and not pancreatic insufficiency. I had croup and chronic bronchitis through my early teens as well as a couple of episodes of pneumonia. As an adult, I've only had one additional episode of pneumonia (during boot camp 5 years ago) but have had several bouts of sinusitis.For my entire life, I've had very clammy hands and have rusted everything metallic that I touch. My bicycle, guitar strings, tools, scissors, firearms, etc., have all fallen prey to my salty, sweaty hands. In general, though, it seems that my symptoms and overall health have actually gotten better as I got older. However, this may be due to my being more proactive with my diet and exercise, simply from learning how things have affected me over the years.I know that CF can manifest differently even between siblings, but maybe this will give some insight to others. My doctors are somewhat perplexed with my case, but I am pleased to be in such good health. It is confusing how it seems that I was more affected as a child, as CF symptoms tend to worsen with age. But I will take what I can get!One of the unexpected benefits of the whirlwind which has been this past month is that I am getting involved in the CF community. Everyone has been very caring and understanding. My family has had a business here in Hawaii since 1985 and I'm going to be taking it over when I get out of the military this year. Our focus is organic bed mattresses and sustainable furniture. I want to use the business to benefit the CF community both by giving a percentage of our profits to the CFF as well as providing healthier sleeping systems to patients. There are dozens of harmful chemicals in the average bed, with the higher end mattresses (like those with memory foam) being exponentially worse. These chemicals are inhaled into the lungs and absorbed into the skin for several hours every day. Not a good situation for someone with chronic respiratory disease. This is something I believe in very strongly, so it's the perfect avenue through which to directly improve the quality of life for CF patients and their families. Besides, some of our beds and furniture for the little ones are just so cute and fun! Everyone could use more smiles and laughter in their lives - even more so those dealing with chronic illness.Anyway, this ended up being a longer post than intended, but I really pray that it gives hope and encourages some of you out there!
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My diagnosis at age 34
- Thread starter azmaveth
- Start date
Hi all,I just thought I'd add my info here in case it helps someone down the road. I'm a 34 year-old active duty Marine and was just diagnosed last month as a side effect of determining that I have CBAVD. I have a p.L467P mutation and a 5T variant. I have tested positive on two sweat chloride tests, but am pancreatic sufficient and have no discernible lung damage. I was very small as a child - 45 lbs at age 10, didn't break 100 lbs until age 16-17. I remember having the oily stools and frequent constipation when I was small, but it's possible that it was due to diet and not pancreatic insufficiency. I had croup and chronic bronchitis through my early teens as well as a couple of episodes of pneumonia. As an adult, I've only had one additional episode of pneumonia (during boot camp 5 years ago) but have had several bouts of sinusitis.For my entire life, I've had very clammy hands and have rusted everything metallic that I touch. My bicycle, guitar strings, tools, scissors, firearms, etc., have all fallen prey to my salty, sweaty hands. In general, though, it seems that my symptoms and overall health have actually gotten better as I got older. However, this may be due to my being more proactive with my diet and exercise, simply from learning how things have affected me over the years.I know that CF can manifest differently even between siblings, but maybe this will give some insight to others. My doctors are somewhat perplexed with my case, but I am pleased to be in such good health. It is confusing how it seems that I was more affected as a child, as CF symptoms tend to worsen with age. But I will take what I can get!One of the unexpected benefits of the whirlwind which has been this past month is that I am getting involved in the CF community. Everyone has been very caring and understanding. My family has had a business here in Hawaii since 1985 and I'm going to be taking it over when I get out of the military this year. Our focus is organic bed mattresses and sustainable furniture. I want to use the business to benefit the CF community both by giving a percentage of our profits to the CFF as well as providing healthier sleeping systems to patients. There are dozens of harmful chemicals in the average bed, with the higher end mattresses (like those with memory foam) being exponentially worse. These chemicals are inhaled into the lungs and absorbed into the skin for several hours every day. Not a good situation for someone with chronic respiratory disease. This is something I believe in very strongly, so it's the perfect avenue through which to directly improve the quality of life for CF patients and their families. Besides, some of our beds and furniture for the little ones are just so cute and fun! Everyone could use more smiles and laughter in their lives - even more so those dealing with chronic illness.Anyway, this ended up being a longer post than intended, but I really pray that it gives hope and encourages some of you out there!
concerneddad
New member
I am new to this site and am looking for some help if possible. My child was just diagnosed, at age 16 (almost 17). We just got the results of the genetic testing and the two mutations are w1282x (which I understand is common) and Q1291N (which the doctor said she was not familiar with and for which there is very little information). I am just curious if anyone has information on this other mututation. Thanks so much.
concerneddad
New member
I am new to this site and am looking for some help if possible. My child was just diagnosed, at age 16 (almost 17). We just got the results of the genetic testing and the two mutations are w1282x (which I understand is common) and Q1291N (which the doctor said she was not familiar with and for which there is very little information). I am just curious if anyone has information on this other mututation. Thanks so much.
MeFamilyGal2
New member
Hello, this post has helped. My daughter is 17, Her pancreas is not making any enzymes. She has gone threw the sweat test, and a genetic testing both have been negative but the doc says that the gene is hiding and he is certain that she has CF. I questioned, why only in the pancreas didn't know that could happen untill I read this post.. She has had her share of bronchitis, pnemonia, ext.. Other then not gaining weight she is doing very well. She takes Zenpep for the fake enzymes and has gained 1.5 lbs in 8 months yeah. We understand nothing about CF except that it is life threatening. I've done all the research but nothing tells us what she has to look forward to, and how to live with this disease. Thank you much for your post
MeFamilyGal2
New member
Hello, this post has helped. My daughter is 17, Her pancreas is not making any enzymes. She has gone threw the sweat test, and a genetic testing both have been negative but the doc says that the gene is hiding and he is certain that she has CF. I questioned, why only in the pancreas didn't know that could happen untill I read this post.. She has had her share of bronchitis, pnemonia, ext.. Other then not gaining weight she is doing very well. She takes Zenpep for the fake enzymes and has gained 1.5 lbs in 8 months yeah. We understand nothing about CF except that it is life threatening. I've done all the research but nothing tells us what she has to look forward to, and how to live with this disease. Thank you much for your post
I don't know how long she will live I'm 72 and still doing ok. There is a thread on here in FORUMS/ADULT titled CFers over 50. I would suggest that you and your daughter read through it.
Your daughter needs to have a FULL CF SEQUENCING at an APPROVER CF CLINIC. There are more than 1500 mutations and the gene DOES NOT HIDE. The Doctor that you are seeing is not qualified to dx CYSTIC FIBROSIS.
See a QUALIFIED CF SPECIALIST as soon as possible.
Bill
Your daughter needs to have a FULL CF SEQUENCING at an APPROVER CF CLINIC. There are more than 1500 mutations and the gene DOES NOT HIDE. The Doctor that you are seeing is not qualified to dx CYSTIC FIBROSIS.
See a QUALIFIED CF SPECIALIST as soon as possible.
Bill
I don't know how long she will live I'm 72 and still doing ok. There is a thread on here in FORUMS/ADULT titled CFers over 50. I would suggest that you and your daughter read through it.
Your daughter needs to have a FULL CF SEQUENCING at an APPROVER CF CLINIC. There are more than 1500 mutations and the gene DOES NOT HIDE. The Doctor that you are seeing is not qualified to dx CYSTIC FIBROSIS.
See a QUALIFIED CF SPECIALIST as soon as possible.
Bill
Your daughter needs to have a FULL CF SEQUENCING at an APPROVER CF CLINIC. There are more than 1500 mutations and the gene DOES NOT HIDE. The Doctor that you are seeing is not qualified to dx CYSTIC FIBROSIS.
See a QUALIFIED CF SPECIALIST as soon as possible.
Bill