Re: New CF Dad MUTATIONS

[Guest guest]

Hi Joe,

I am the mom of a 7-year-old with CF.

I must get to work, so I have to make this short.

I was at a conference last week where several fabulous CF specialists

(including our doctors from Children's Hospital in Denver) spoke on a

variety of topics.

It was aimed at medical students, not CF families, so some of it was

hard to take, but at least it was not sugar-coated.

THIS IS IMPORTANT:

The 2 CF genes alone DO NOT indicate the severity of the disease.

They call some genes " severe " because when they do their job - or try

to - they do a worse job than others (releasing proteins, etc.).

The genes are categorized into 4 groups:

Type 1 makes no protein. (My son has one of these)

Type 2 makes a protein but it can't get out. (This is F508, the most

common and the gene that they WILL fix when they finally fix one)

Type 3 makes protein and I forget what happens. I think it makes a

protein but it is " kicked back " because it is not perfect (kinda like

a quality cotrol thing).

and Type 4 releases protein but not enough to work perfectly.

Dr. Accurso, head of Pediatric Pulmonary at Children's and highly

respected in the field is doing a study on other mutations in the

family (my husband and I are in it) because he is certain that many

other genes have an effect on the severity of the condition, NOT just

the CF genes.

The scientists need to know the mutations so that they can fix the

mistake they are making, but for people with cf, many, many other

factors (and genes) are responsible for the person's health. length

of life, etc.

PLEASE don't get caught up (like I did) in the word " severity " .

We have so much to deal with. We don't need to focus on problems that

have not yet arrived...and may never happen.

I will be glad to talk more about this later. As anyone on the lists

can tell you, I am NOT a Pollyanna or a " GLASS HALF FULL " kind of

person. But this is a battle I have gone through and would like to

ave others from going through.

Lenora in Colorado

>also have questions regarding cpt but will ask later. Any advice

>will be very appreciated. Thank you

>Joe Reams

>

>

>