r560t mutation

anonymous

New member
Hi There,My son has been diagnosed with fd508/r560t and I cannot seem to find any info about the r560t.Does anyone else have this mutation?I would like to know more about it.Kind RegardsRebekah mum to Matthew 10mths wcf
 

anonymous

New member
My daughter, age 26, has the same two mutations. I also do not know much. The R560T, I think, is pretty uncommon. My niece, age 33, was just diagnosed w/ mild CF. She has the R560T and T5 and only has sinus problems. My daughter was diagnosed at 3 months of age as a failure to thrive baby. The digestive problems were the first to surface. All in all, she is doing okay and works 3-4 days per week as an accountant. She's married and very active physically, going to the gym almost every day. My best to you and your child.Kerry
 

anonymous

New member
Thank you for your reply!No one in our country (New Zealand) has this mutation so it is nice to hear from someone!Matthew is doing very well he is 13months old and he is mostly bothered by GI problems.Rebekah Mother to matt 12mths w/CF
 

anonymous

New member
Hi,

My son will turn 1 year old on Jan.8/05. He was dx w/ D508 & R560T. My dr. gave me a little print out of a search done on R560T. It basically said that it is for the most part found in Ireland. Not very common. Both of these mutations are considered "severe" because they both cause pancreatic insufficiency.

I'm really excited to see someone with a little boy close to my son's age that has the same mutations. Hunter (my son) almost died before they figured out he had CF. He had severe reflux that now seems to be under control but we haven't taken him off the Prevacid yet. His liver got pretty bad, but he's been on Ursodiol for it and it's slowly coming back to normal. I think his liver problems and spleen problems were caused from "CMV" that he caught while at the hospital. Did your son have any liver or spleen problems or reflux? Email me if you want to share any info or want someone to talk to that's going through the same thing.

Nedda, mom to Hunter 11 months dx w/CF, GERD, FTT
greg_n_nedda@msn.com
 
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Anthea

Guest
Hi Rebekah and NeedaI see you both posted re gene mutations some years ago!!! I have just joined this forum today.
My daughter (almost 8yrs old) has delta F508 and R560t 'combo' as well. She was diagnosed at 4.5years.
Would love to be in contact with you both. Rebekah, I too live in New Zealand so that makes 2 now. I am in Auckland.
 
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HDsMom

Guest
Hi Anthea - Nice to *meet* you! I am always on the look out for other cf friends, and R560T is rare so I'm always excited to see others with Hunter's mutations. You can find me on facebook: Nedda Dayley
 

suey70

New member
I am a carrier of the R560T mutation and so are my girls. My daughter and I are symtomatic for CF and struggle with it. My Mom's family are from Canada, Ireland, Scottland, and Wales. Not sure where it stemmed from. : ) Suzanne
 
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