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CF Mutations
- Thread starter anonymous
- Start date
Joan,
I have not heard about this mutation. It may be uncommon?
I'm not sure the mutations have anything to do w/ severity, etc. I've heard of people having the same mutations & one of them has a heck of a time w/ their CF and the other has relatively less problems w/ their CF, yet they have the same mutations. This is just my opinion.
I would be curious to see #1- if anyone has heard of the L997F mutation and #2- if they agree that the mutations are just that--your mutation, but don't necessarily indicate your severity of CF, etc.
I have not heard about this mutation. It may be uncommon?
I'm not sure the mutations have anything to do w/ severity, etc. I've heard of people having the same mutations & one of them has a heck of a time w/ their CF and the other has relatively less problems w/ their CF, yet they have the same mutations. This is just my opinion.
I would be curious to see #1- if anyone has heard of the L997F mutation and #2- if they agree that the mutations are just that--your mutation, but don't necessarily indicate your severity of CF, etc.
NoDayButToday
New member
Some scientists now believe that there is a modifying gene aside from the genes that actually cause CF that determine the severity of the disease. They started looking into something like this after they saw families where siblings had the same mutations, yet different severities of illness
This aspect of cf always confuses me...my husband is the scientist of the family, so he usually tries to explain it to me. My son has 2 very rare mutations as well. It took them months to find his second mutation. Our pulm. told us that he would not be a candidate for a certain type of inhaled medication down the road due to his mutation. I'm not sure what the med was exactly...but I do know that she mentioned it was linked to his one particular mutation. Carey
Thanks to all for your input. John's Hopkins is now studying this rare occurance in my daughter, Lauren. Not only does she have CF but she was also diagnosed last year with a rare syndrome. She has several disabilities not associated with CF...mental retardation, nonverbal, incontinence, Hirschsprungs disease, microcephaly..small brain, seizure disorder, all diagnoses as Mowat Wilson Syndrome on 1/8/03. So the CF along with all of this was quite and shock and now they cant even find the mutations. It is crazy to us.
The sweat tests are the only tests available we were told. Wondering if they could be false positive or something???? Our Pulmo is treating her with inhaled meds, ultrase due to the sweat tests results and some bouts of pneumonia in the past.
I suppose all we can do is wait for the final results from John's Hopkins but it has been 6 months so far. Patience!!
Thanks again, Joan
The sweat tests are the only tests available we were told. Wondering if they could be false positive or something???? Our Pulmo is treating her with inhaled meds, ultrase due to the sweat tests results and some bouts of pneumonia in the past.
I suppose all we can do is wait for the final results from John's Hopkins but it has been 6 months so far. Patience!!
Thanks again, Joan
Dear Lauren's mom,
Bless your heart--you are a very strong person! It would be hard to deal w/ all that's on your plate and I encourage you to stay strong!
As far as false positive test results, I'm not sure if I've heard of that, I have heard of false negatives. Hopefully someone else can help w/ that. I found out my mutations from the nurse swabbing a cotton swab on the inside of my cheek and then sending in the sample she took.
Some symptoms that would be indicitive to CF are obviously the lung problems, loose- foul smelling stools (sorry to be gross), salty tasting skin and clubbed fingertips (rounded on the end). I am probably missing some here.
It sounds as if your Dr is treating her correctly if she indeed has CF (i.e. the Ultrase for digestion & inhaled meds/antibiotics for lungs). Is the pulmo a specialist in CF?
You'll be in my prayers & please keep us posted on how Lauren continues to do.<img src="i/expressions/rose.gif" border="0">
Bless your heart--you are a very strong person! It would be hard to deal w/ all that's on your plate and I encourage you to stay strong!
As far as false positive test results, I'm not sure if I've heard of that, I have heard of false negatives. Hopefully someone else can help w/ that. I found out my mutations from the nurse swabbing a cotton swab on the inside of my cheek and then sending in the sample she took.
Some symptoms that would be indicitive to CF are obviously the lung problems, loose- foul smelling stools (sorry to be gross), salty tasting skin and clubbed fingertips (rounded on the end). I am probably missing some here.
It sounds as if your Dr is treating her correctly if she indeed has CF (i.e. the Ultrase for digestion & inhaled meds/antibiotics for lungs). Is the pulmo a specialist in CF?
You'll be in my prayers & please keep us posted on how Lauren continues to do.<img src="i/expressions/rose.gif" border="0">