question about types of CF

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makxis
New Member


Date Joined Aug 2007
Total Posts : 3
   Posted 8/31/2007 1:00 PM (GMT -7)   
Hello everyone.  I am new to this whole chat thing.  I have a question and I am hoping there is someone out there that has an answer.  Our  2 1/2 year old daughter was diagnosed with cf a few months ago and we were told that she has a double mutation.  The doc said that they are called Delta F-508 and M117H.  Now, I have been able to find a fair bit of info on the Delta F508 mutation, but i haven't found a single thing on M117H.  At the time they told us that is was a very rare type of cf so the couldn't at this point in time tell us the level of severity.  We just took our daughter to her cf clinic this week and are waiting for test results to determine whether or not she will be starting enzyme therapy.  Aside from that, she still doing really great.  No other meds so far.  If anyone has any info about the double mutation thing, or this very rare type of cf, could you please let me know.  Thank you in advance to anyone who responds. 
 
Makxis

Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 8/31/2007 2:04 PM (GMT -7)   
Hi Makxis, just wanted too welcome you to healingwell. Hope you can find the answers you're looking for!

The only mutation I know the effects of are double DF508. As thats what both my gene's are.

Different mutations, have there own effects, and mixed with other 'normal' gene's will depend on the overall condition. IMO only time will tell in the severity of your daughters CF.

I think with such a rare mutation, there won't be many things about it. DF508 is the most common mutation, which is why you will have found a lot more information about it.
I hope, that someone can come along, and tell you a little more about M117H.

Hope you and your daughter keeps well, and that she doesn't suffer the usual enzyme/stomach complications!

Gem


Co-moderator in the: Cystic Fibrosis Forums
 Woe to the child which when kissed on the forehead tastes salty. She is bewitched and soon must die.
 Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild liver cirrohsis, mild osteopenia. Waiting for final diagnosis on Muscular Dystrophy type symptoms.
 Medication: Creon 10,000, Flucloxacillin, Vitamins A,D+E, Serevent, Salbutamol, Sertraline, Odansetron, Nefopam, Ciprofloxacin, Ursodeoxycholic Acid, Omeprazole, Saline neb/PEP system, Piriton, Mirtazapine, Diazepam.
Had a Port-a-cath fitted on chest wall since 11th Nov 05

Post Edited (Darkies Gem) : 8/31/2007 3:09:37 PM (GMT-6)


Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 9/1/2007 8:25 AM (GMT -7)   
Hi Makxis!
 
I deleted your other thread, as it was the same question really. Which breaks healingwell's rules and guidelines on postings.

If you need to pose any more questions about the double mutation, please post in this thread.

Here is your question from the other thread, so others can see it:-
Makxis said...

 
Hello everyone! I was just wondering if having a double mutation with CF is rare or if it is fairly commom? I'm not sure. If there is anyone who knows anything about it, please let me know what you know. Thank you very much. I hope everyone has a great day! Makxis (mother of 2 little girls, one with CF and one without CF.)

Hope you're having a good day

Gem


Co-moderator in the: Cystic Fibrosis Forums
 Woe to the child which when kissed on the forehead tastes salty. She is bewitched and soon must die.
 Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild liver cirrohsis, mild osteopenia. Waiting for final diagnosis on Muscular Dystrophy type symptoms.
 Medication: Creon 10,000, Flucloxacillin, Vitamins A,D+E, Serevent, Salbutamol, Paracetamol, Ondansetron, Nefopam, Ciprofloxacin, Ursodeoxycholic Acid, Saline neb/PEP system, Piriton, Mirtazapine, Diazepam.
Had a Port-a-cath fitted on chest wall since Nov 05

Post Edited (Darkies Gem) : 9/1/2007 9:28:10 AM (GMT-6)

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