Re: Hello!debA/brenda

[Guest guest]

Missy,

What an amazing story. I've heard of CF genes mutating like this, it's rare but

it

happens -- organisms fight to survive.

There is a parent on another list who's child has CF. If I remember the story

correctly,

the child has three CF genes. After the diagnosis, the husband was also found to

have

CF based on carrying two genes, but he has no symptoms. I can't remember if the

mom

has any CF genes or not.

Then there is the family from Puerto Rico... A husband and wife tried for a

while to get pregnant

without luck. Finally she had invitro fertilization and got pregnant with twins

(boy and a girl). A few

months after their births, the babies started getting sick with colds, the son

was worse and hospitalized

a while. Doctor after doctor came in giving a different diagnosis or shrugging

their shoulders. Finally, a

very old doctor came in and looked in to the child's yellowed eyes and

pronounced him with CF.

The family flew to Washington, DC where both children were tested and both found

to have CF. When

doctors heard of the parents trouble getting pregnant, they tested the dad and

found out he also has CF,

then they tested the mom and found out she too has CF! Can you imagine... in a

matter of hours, not only

is the life-course of your children changed, but the entire family.

(p.s. welcome to the group, and to welcome to all newcomers!)

Kim

Mom of (24 with cf) and (21 without)

> Well, you would've thought I had all my bases covered by being married to a

NON-carrier. Our first son is a carrier like me (DF508).

When I was preg. w/my 2nd, my OB wanted us tested for Tay Sachs & CF. My DH

came back neg. for both, I however am a carrier

of DF508. We were told not to worry....

>

> He was born full term, good size, but was having some resp. problems (was also

a meconium baby). So he went to the NICU for 3

days. They found nothing wrong & sent us home. He still had rapid breathing so

I went back to the hospital & he was admitted for 2

weeks. Had every test ran on his poor little body. Still found nothing wrong.

He was admitted again at 4 months, 6 months & again

at 8 months. Every cold he got turned into wheezing & coughing. I knew he had

CF at 6 months (did alot of research) but the Dr.s

(all 3) told me I was crazy to think that. There was no way this big kid had

CF...

>

> Our Dr.s still didn't want to test him so we had a relative who is a PICU Dr.

at a CF center hospital pull some strings & get him

tested. He was 120. Finally we were able to get him genetically tested & he

was homozygous for DF508.

>

> The pediatrician questioned my sons paternity! Of course we knew my husband

is the father. We then went to a geneticist in

Miami...my son has CF because either my egg was trisomic for the #7 chromosome &

knocked DH's out OR DH's sperm was

missing chromosome #7 & my (bad copy) doubled over to compensate for it. It is

called uniparental disomy 7. It is rare but it does

happen. You wouldn't know if it happened unless a mutated gene is involved such

as w/my CF gene. There have been reported

cases of this. So, basically, he shouldn't have CF. We like to call him our

little MAX-in-a-million.