What's new
By:
Filters
Cystic Fibrosis Forum (EXP)

This is a sample guest message. Register a free account today to become a member! Once signed in, you'll be able to participate on this site by adding your own topics and posts, as well as connect with other members through your own private inbox!

Anyone with mutation V562L?

M

mmw

New member
Hello, I am relatively new to this site.  My husband has CF and we recently found out that I am a carrier of V562L.  No one knows anything about this mutation.  I can only find one article about a young boy with a mild case of CF, but his other mutation is not known (at least when the article was published).  Does anyone know anything about this mutation? I would greatly appreciate any information.<br>
 
M

mmw

New member
Hello, I am relatively new to this site. My husband has CF and we recently found out that I am a carrier of V562L. No one knows anything about this mutation. I can only find one article about a young boy with a mild case of CF, but his other mutation is not known (at least when the article was published). Does anyone know anything about this mutation? I would greatly appreciate any information.<br>
 
M

mmw

New member
Hello, I am relatively new to this site. My husband has CF and we recently found out that I am a carrier of V562L. No one knows anything about this mutation. I can only find one article about a young boy with a mild case of CF, but his other mutation is not known (at least when the article was published). Does anyone know anything about this mutation? I would greatly appreciate any information.<br>
 
S

sandy52546

New member
I am sorry I do not know about your mutation. However, I am very interested in finding out how your husband is doing. My grandson, who is almost 4, has the exact mutations that your husband has. That is a very rare combination with only about 30-40 people in the U.S. who have that combo. Please let me know as I worry about my grandson and have done some research on his mutations. Since so few have them, I have learned little. My grandson is pancreatic sufficient and has had no problems yet. Thank you so much and I hope you can find out about your own mutation.
 
S

sandy52546

New member
I am sorry I do not know about your mutation. However, I am very interested in finding out how your husband is doing. My grandson, who is almost 4, has the exact mutations that your husband has. That is a very rare combination with only about 30-40 people in the U.S. who have that combo. Please let me know as I worry about my grandson and have done some research on his mutations. Since so few have them, I have learned little. My grandson is pancreatic sufficient and has had no problems yet. Thank you so much and I hope you can find out about your own mutation.
 
S

sandy52546

New member
I am sorry I do not know about your mutation. However, I am very interested in finding out how your husband is doing. My grandson, who is almost 4, has the exact mutations that your husband has. That is a very rare combination with only about 30-40 people in the U.S. who have that combo. Please let me know as I worry about my grandson and have done some research on his mutations. Since so few have them, I have learned little. My grandson is pancreatic sufficient and has had no problems yet. Thank you so much and I hope you can find out about your own mutation.
<br />
 
M

mmw

New member
Sandy, <br><br>My husband is remarkably "healthy" for a CF patient, such a blessing.  He was diagnosed at the age of 17 and has led a very normal life.  His physician has told him that he has a mild case and should expect to live a normal lifespan.  Thankfully, he has never been hospitalized by a exacerbation.<br><br>I know every CF patient is different.  I hope this helps.  I'd be happy to answer any other questions.  God bless!<br>
 
M

mmw

New member
Sandy, <br><br>My husband is remarkably "healthy" for a CF patient, such a blessing. He was diagnosed at the age of 17 and has led a very normal life. His physician has told him that he has a mild case and should expect to live a normal lifespan. Thankfully, he has never been hospitalized by a exacerbation.<br><br>I know every CF patient is different. I hope this helps. I'd be happy to answer any other questions. God bless!<br>
 
M

mmw

New member
Sandy, <br><br>My husband is remarkably "healthy" for a CF patient, such a blessing. He was diagnosed at the age of 17 and has led a very normal life. His physician has told him that he has a mild case and should expect to live a normal lifespan. Thankfully, he has never been hospitalized by a exacerbation.<br><br>I know every CF patient is different. I hope this helps. I'd be happy to answer any other questions. God bless!<br>
 
M

mmw

New member
No, Bill, unfortunately not.  I've seen your postings in the past and noticed you have V562I.  My husband as well as our genetic counselor have both called Ambry to confirm that I am a carrier of V562L and not V562I.  Although, there is not a lot of information out there, I've been able to find more information on I instead of L.  Thanks for responding.  It's a true inspiration to see your age and know that your a CF patient.<br>
 
M

mmw

New member
No, Bill, unfortunately not. I've seen your postings in the past and noticed you have V562I. My husband as well as our genetic counselor have both called Ambry to confirm that I am a carrier of V562L and not V562I. Although, there is not a lot of information out there, I've been able to find more information on I instead of L. Thanks for responding. It's a true inspiration to see your age and know that your a CF patient.<br>
 
M

mmw

New member
No, Bill, unfortunately not. I've seen your postings in the past and noticed you have V562I. My husband as well as our genetic counselor have both called Ambry to confirm that I am a carrier of V562L and not V562I. Although, there is not a lot of information out there, I've been able to find more information on I instead of L. Thanks for responding. It's a true inspiration to see your age and know that your a CF patient.<br>
 
F

ffevziyildiz

New member
Hi MMW;

I m from Turkey and i have a son who is 14 months old. His mutations are Delf508&R347P compound heterosigot. II want to ask something about your husband. How old is your husband and has he ever been hospitalized about cf. Have you got child?

Thanks for everything.
 
F

ffevziyildiz

New member
Hi MMW;

I m from Turkey and i have a son who is 14 months old. His mutations are Delf508&R347P compound heterosigot. II want to ask something about your husband. How old is your husband and has he ever been hospitalized about cf. Have you got child?

Thanks for everything.
 
F

ffevziyildiz

New member
Hi MMW;
<br />
<br />I m from Turkey and i have a son who is 14 months old. His mutations are Delf508&R347P compound heterosigot. II want to ask something about your husband. How old is your husband and has he ever been hospitalized about cf. Have you got child?
<br />
<br />Thanks for everything.
 
M

mmw

New member
My husband is 33.  No, he has never been hospitalized for a pulmonary exacerbation.  He has been hospitalized 3 times for pancreatitis.  <br><br>No, we do not have children.  We've had an extremely difficult time adopting (domestic and international).  My husband's CF team wrote a fantastic letter about him and his prognosis.  We still, however; have had so many programs deny us because of his diagnosis of CF.  We have started looking into trying to pregnant, but recently learned that I am a CF carrier.  I'm trying everything in power to learn about my mutation, V562L, to try to make the best decision possible.<br><br>I hope this helps.  Good luck to you and your son.<br>
 
M

mmw

New member
My husband is 33. No, he has never been hospitalized for a pulmonary exacerbation. He has been hospitalized 3 times for pancreatitis. <br><br>No, we do not have children. We've had an extremely difficult time adopting (domestic and international). My husband's CF team wrote a fantastic letter about him and his prognosis. We still, however; have had so many programs deny us because of his diagnosis of CF. We have started looking into trying to pregnant, but recently learned that I am a CF carrier. I'm trying everything in power to learn about my mutation, V562L, to try to make the best decision possible.<br><br>I hope this helps. Good luck to you and your son.<br>
 
You must log in or register to reply here.
Top