My son has been diagnosed with the CF mutations deltaF508 and W846X. We do know that it is primarily found in france and is quite rare there. Does anyone else that you know have one or both of these mutations because we would more information on these mutations. How are others coping with these mutations? Any information would or suggestions on how to find out more about these mutations would greatly be appreciated. Thank you.
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Does anyone carry the genes DeltaF508/W846X?
- Thread starter anonymous
- Start date
My daughter has double Delta F508. She takes quite a few enzymes and we were told that they could determine the severity of the digestive system based on the mutations. The doctor said lung function could not be determined by mutations and researchers are trying to look into modifier genes to see if they affect the severity of respiratory issues.HeatherMom to Ashley 3 yrs oldCanada
You have a stop mutation, hence the X at the end of W846. It means he's pancreatic insufficient. There is some exciting work being done regarding stop mutations. Particularly Gentomycin and a version with less side effects, PTC124. You might talk to your doctor about this.http://www.bioworld.com/servlet/com.accumedia.web.Dispatcher?next=bioWorldHeadlines_article&forceid=31826
My girls both have CF. They are 3 years old and 13 months old. They both carry the genes DeltaF508 and G542X. They are both on the Creon 5 enzymes. They do nebulizers with ventolin and saline 2X/day and pulmozyme 1X/day. They take ADEK vitamins and my infant is taking iron.Overall their health has been good. They were both born with meconium ileus at birth and my 13 month old required surgery at 5 days old to remove this blockage (occurs often with G542X). Other than those complications they have never been hospitalized for their CF and have never been on antibiotics or anything other than the above mentioned.How old is your child? How is their health?
Thank you all for answering my email. The information on Bioworld online was quite exciting! It is so great to know that so many different medications will hopefully be available in the future. My son is 15 months old and was born with meconium ileus, which required surgury when he was hours old. He spent 2 long months in the unit before he came home. He thankfully has been doing well. He is on Creon, pepcid and, ADEK. When we return to clinic the doctors can't believe how well he is doing because he had such a rough start. I am so greatfull for all the wonderful care he recieved by all the caring nurses and doctors. <img src="i/expressions/sun.gif" border="0">
Hi,I'm not Heather but I'm from the Hamilton area. Do you go to Sick Kids in Toronto for your son's CF care? We go to McMaster Children's Hospital. We have a CF center there. I have two daughters both with CF (3 years old and 13 months old). How is your son's health? Do you have any other children?Tammy
Shar, I am not from Toronto, I am actually in Montreal. I am friends with Tammy that also replied to you and have seen that even from Montreal to Toronto our kids are treated differently. The hospitals says each CF clinic has their own way of treating CF patients, but I imagine some of it is based on mutation as well.If you want to stay in touch let me know.Heather
Sure I'll stay in touch. I'm bad at looking back at my previous posts, so if I miss something or not answer a question pls. feel free to e-mail me. www.shar@rogers.com.I go to Sick Kids in Toronto. We didn't find out about my son's cf until he was 3 years old and me being persistant to find out why my son and I lived in the washroom. I couldn't even go to the grocery store/mall without visiting the washroom several times.Lungs are good still. No puffers but his pancreas is badly effected. He's on 5- cotazyme 8s with pretty much everything and therapy, therapy and more therapy. I can't complain.I have found one other mom that contacted me with her child having the identical 2 mutations. I've done alot of research on the mutations and how they effect the body/ genetic make-up. Has anyone else done this? I'd love to see what we both know and hope to learn more.