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Yes, you're right. M470V doesn't cause disease.
You're going to have to get her bloods sent out again for DNA sequencing.
(That's where they sequence the entire gene to find the mutation).
She must have a rare mutation.
(Typical screens look for the top 30 mutations).
Anyone tried, what I call, non run of the mill antibiotics.
Like I've been on Cefipime rather than ceftazidime (fortum) on occasion with some good results.
Anyone ever been on Cefpirome (cefrom) or Cefoperazone (cefobid)?
I'm largely resistant or allergic to all the standard ones at this...
There are 17 Genomovars (genomic species) of burkholderia and the identification is difficult/time_consuming.
These two here cause 85% of burkholderia infections:
Burkholderia multivorans (Genomovar II) – Initial infection
Burkholderia cenocepacia (Genomovar III) – Patient to patient...
Jessiesmom, if I were you, I would definitely be trying to actively find out the CF mutations present in your child.
Point 1) Here's a list of mutations, that kalydeco has shown some promise with in the lab. You might expect, with some luck, to see some effects in the patient:
(Minimal but...
In 2004, there were well over 1000 mutations known to cause CF.
So your daughters mutations, whatever they are, are probably in the mutation databases out there, just not routinely tested for.
Routine screening will generally only detect the top 20 mutations, with specialist screening maybe top...
Sorry, LittleLab, Polymorphism does NOT mean many repeated Thymines. It means change in DNA code that is not disease causing.
Separately, 7T, 9T and 5T are indeed strings of Thymidines, along exon 9 which influence exon expression and more importantly skipping of Exon 9 during transcription...
Just means, he's got a very uncommon mutation on the other DNA strand.
Even F1052V is pretty uncommon, so they've done well to find that one!
(It also seems to be associated with milder CF).
If you're trying to find a very uncommon mutation, and you've tried out all the screens available (say...
This is very interesting scanboyd, I've just hit 35% FEV1 and have started to desaturate to below 90% when I exercise.
I get headaches if I walk above 5km/hr for more than 5 or 10 minutes.
I used to play a lot of soccer so its all new to me.
I've tried O2 on the treadmill (4 litres/min) and...
I think I didn't explain myself very well.
7T and 9T are polymorphisms (i.e. normal). Everybody in the normal population has either 7T/7T or 7T/9T or 9T/9T.
CF comes into play if you have 5T/7T or 5T/9T.
(Polymorphism means a change in DNA sequence that is not disease causing)
(whereas mutation...
37 years old and 35% FEV1 (preferred it when my FEV1 was larger than my age...)
And yeah, staying well is all down to genes, BUT not only your CF mutations!
(Multiple research studies have shown CF mutation class I class II and class III only correlates to pancreatic sufficiency and not to lung...
There are 3 common variants along exon 9 of CFTR.
They are 5T, 7T and 9T.
The 7T and 9T variants cause no disease and are found in the normal population.
However, the 5T variant is associated with absence of the vas deferens and is most commonly picked up during screening of infertile men.
It...
It could be a gram positive bacteria.
Years ago, I remember I started having funny tasting phlegm and my breath was so bad people were literally moving out of my line of breath!
I finally realised what was going on and it got treated with an antibiotic called Metronidazole (tradename: flagyl)
Hi Em,
I get joint pain quite a bit, CF related arthritis they tell me.
Its always infection related, so I normally end up on IV antibiotics and take 40mg prednisolone for a week.
The pred is really good for resolving it.
I'm 37, lung function is 35%, and unless the IV's smash the bugs, I feel exhausted and usually feel worse on IVs.
Used to be I felt brilliant on IVs every time. Now I kinda dread them.
This last infection, the IV's were useless and I felt especially rubbish.
I've also started feeling nauseous...
Welshwitch,
In my experience, I think having a child is the best thing I ever did.
It has made the struggle with CF all worthwhile and I feel with two healthy boys, I have beaten CF once and for all.
I smile everyday when I see them and I make the most of every day with them.
It took us 8 IVF...
Sorry RMotion, that Milk thing is a load of rubbish apparently! Its just propagated on the internet so much, everyone thinks its true.
J Am Coll Nutr. 2005 Dec;24(6 Suppl):547S-55S.
Milk consumption does not lead to mucus production or occurrence of asthma.
Wüthrich B, Schmid A, Walther B...
It means you've got more than one strain of Pseudomonas.
Maybe one regular strain and one mucoid one, although the report will usually say if its mucoid.
For instance, I have two mucoid strains in my sputum along with a regular strain. They are having a party down there...
I was bleeding non stop for 2 years til I started the Tobi Podhaler.
It would calm down on IVs and then a month or two later, start again.
Since I've been on the podhaler, my bleeding has pretty much stopped, which is a great relief.
The only problem now is I'm finding it reduces my FVC (3.2...
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