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Mutations 621+1G->T and DI507

Do you wish there were a more comprehensive web site on people with CF and the mutations they have?
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My 6 month-old daughter has these mutations. If you have have one or both of these mutations, please reply and/or contact me. I'm trying to learn as much as I can.

Thanks in advance!

~Jenn
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First Helper Greenwks
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replied September 28th, 2009
Hi Jenn,
My 3.5 year old son has 621+1G-T as well and Delta F508. He has moderate lung disease and elevated LFTs. We will determine if his LFTs has worsened in December as he will have his annual lab tests. It has been difficult to learn much about this mutation. Keaton doctors at the University of Minnesota and the CF physicians have not worked with this mutation; it is very rare. What have your Docs noted with you?
How are you doing with everything? Dealing with CF is a lot of continuous education for yourself and family.
Kristen
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replied November 23rd, 2009
My 11 year old daughter has 621 1G-T and Delta F508 as well. Her lung function hovers around 60-69% for FEV1. She did really well until around age 6. She got MRSA from the hospital and we have noted quite a decline in her lung function since this diagnosis. I thought both mutations were Delta F508 today until I asked for a printout at her clinic visit. I am curious to find out more about 621 1G-T as well.

Teresa
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replied January 1st, 2010
Hi, we also have a son with this mutation. He is 3 months old and was born with Meconium Peritonitis. He has not had any lung issues yet. Everything has been GI related. Please keep in touch.
Thanks!
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replied February 22nd, 2010
Hi I am a 28 year old mother of two boys.. My eldest son, aged 7, and myself have this gene, 621. Our condition is extremely mild, and we both seem to suffer more with gastro problems. The doctors marvel with our success in keeping healthy!
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replied February 23rd, 2011
Delta F508 and 621(+1)G>T
My 8 year old daughter has these 2 mutations as well. She was not diagnosed until age 3 1/2. She had many GI problems and failure to thrive which got better after she started taking enzymes after the diagnosis. She has liver cirhossis and her GI doc says her liver looks like a 60 year old alchoholic's liver. She will most likely need a liver transplant. She also has an enlarged spleen and Celiac Disease. She has to have a liver/spleen scan and an EGD (scope down her esophagus) every 6 months to monitor her esophageal varices and watch out for a GI bleed. As far as her lungs go, she does relatively well. Her latest PFT's were FVC 126, FEV1 113. I think her liver and GI problems far outweigh the lung issues. Much love and hope to all of you!
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replied July 27th, 2012
Thanks to all of you who responded. I had forgotten that I had posted about my daughter's mutations. Izzie is doing very well, but she always seems a little under weight, despite our best efforts. If it wasn't for her steady supply of Vital Jr. she'd be a lot worse off. She's not a big eater...she just picks at her food like a little bird. Izzie hasn't been admitted to the hospital for almost two years, and we are so blessed. He first two years were very rough. Meconeum ileous, having a colostomy bag till 5 months old...with a failed initial take down the first go-round...and then at least 3 times to the hospital for lung infections and/or tune-up. Thankfully she is a feisty little thing, with so much spirit about her. People would never know she had CF by looking at her. She has big beautiful hazel eyes and a sweetness about her that stops general passer-byes in their tracks. Lately, I have been trying to learn more on the Internet again because I do not want to be caught unprepared...or take her current good health for granted. Unfortunately, I still have not been able to find anyone else out there with her mutations...but I wonder how different the 507 and 508 mutations are, being just one off from each other? Because my husband recently transitioned from the military, the doctors who have been treating Izzie since birth will not be able to continue. The doctors at Bethesda NMMC...well now the new Walter Reed...were so wonderful with her-with all of us. She will be seen soon at John Hopkins, but we haven't had the initial appointment. It helps that her previous docs had nothing but good things to say about the providers there. Please feel free to give an update if you've posted here before. Its been a pleasure reading what you've so graciously shared. I will be sure not to let so much time go by between posts from here on out! God bless Smile
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