advice on genetics and check up

[Guest guest]

Hello,

Well the cookbook fundraiser is going well. Friday is

the last day for orders.

On Monday we go for a 3mth check up. Bryce is really

doing so well. We went yesterday for our 18mth check

up with just our pediatrician. Monday is our check up

for CF.

I was just curious. Has anyone every expierced having

a genetic test that could be inaccurate? Have you

every had 2 done?? One that shows different results.

Just wondering. The only severe problem my son has

had is right after birth. He would not gain weight.

Once they changed the formula he started gaining

weight. Until he got use to the formula they had to

put a NG tube in, but once he got use to it, he did

fine. We have really had no respiratory problems, we

have had one episode of psuedo, but Tobramycin took

care of that. At every check up he has been just

perfect. They have increased his enzymes, but mostly

because of his increase in weight. They say, as they

gain, they have to increase them.

I have thought about getting a second opinion, but I

don't want to upset the clinic that I'm going to now,

because they have been very good to us.

I have also wonder if I ask if they would do another

genetic test. My husband thought the same, but I told

him that I don't think the genetic test would be

false, but his response was, " Well, don't you believe

in miracles?? "

I wonder if you can have the genes and it be inactive.

Has anyone out there every expeirce anything like

this? Maybe I'm just grasping at straws, but to this

day when I look at my son, something is just nagging

at me, that there is a mistake in his dx. Maybe I'm

just a wishful mother, hoping for a miracle.

Lill, Mom of Bryce w/cf

__________________________________________________

[Guest guest]

Good post, Lori; speaks to many issues and many families; thank you,

n wcf, etc.

[Guest guest]

Was your genetic testing positive for CF? If yes, your son's positive

response to enzymes is consistent with what SHOULD happen as he gains weight,

etc. Pseudemonas is not cultured (to my knowledge) by non-cf children, so

his culture of that is pretty determinative -- even if you think the genetic

testing is wrong. TOBI can eradicate pseudemonas (it did so to my child,

too) but that doesn't mean they don't have CF. I'm not so sure your

insurance would cover two DNA tests, anyway. Hang in there -- it's a

horrible diagnosis that we all want to deny, but your story sounds classic.

(And the good news is, it sounds like he's doing well.)

[Guest guest]

Without an actual lab error, I have never heard of the DNA test that shows

two known CF mutations being inaccurate. That being said, with CF I firmly

believe anything is possible - maybe not likely but possible. The sweat test

can definitely be inaccurate. Did he have more than one positive one?

There are two things you could do without directly addressing your clinic.

The first is get your and your husband's mutations checked directly. You

could say it is so you can tell your families what mutations they should be

looking for. The other is to cut down on his enzymes and see if his poops

hold. (This one I don't personally recommend unless you really think he

doesn't need them and only if the DNA test for you and your husband shows

something unexpected.)

I have been having similar " wild " thoughts and have had the same trepidation

about approaching our clinic. Scout was only given one sweat test at the

height of her failure to thrive. Failure to thrive and similar conditions

like anorexia can cause elevated sweat chloride. Then her DNA test came back

with only one known mutation. I think it is normal to wonder. She has

continued to have frequent " bad " poops even on her enzymes. This makes me

concerned that the problem is either something not CF related or something

in addition to CF. (I really think it is the later and that she does have

CF.) I have eliminated gluten from her diet (still with enzymes) and her

poops have been near perfect - with the exception of four days when she had

a really bad head cold and a lot of snot was draining down there. Even with

almost 2 weeks of this information I hesitate to approach my clinic so I

completely understand where you are coming from.

The fact is that CF is complicated and (luckily for some of us) not everyone

starts out with lung involvement. We as parents don't want our children to

have a fatal (even if a distant future fatal) disease. It is hard to

separate that desire from evidence that perhaps there was a misdiagnosis. I

would try to err on the side of the diagnosis being correct until you have

good evidence to the other. The treatments for CF should be fairly safe for

a non-CF child, but no treatment for a CF child can be costly (health wise).

Good luck.

Lori

Mom to Scout 2 wCF

advice on genetics and check up

Hello,

Well the cookbook fundraiser is going well. Friday is

the last day for orders.

On Monday we go for a 3mth check up. Bryce is really

doing so well. We went yesterday for our 18mth check

up with just our pediatrician. Monday is our check up

for CF.

I was just curious. Has anyone every expierced having

a genetic test that could be inaccurate? Have you

every had 2 done?? One that shows different results.

Just wondering. The only severe problem my son has

had is right after birth. He would not gain weight.

Once they changed the formula he started gaining

weight. Until he got use to the formula they had to

put a NG tube in, but once he got use to it, he did

fine. We have really had no respiratory problems, we

have had one episode of psuedo, but Tobramycin took

care of that. At every check up he has been just

perfect. They have increased his enzymes, but mostly

because of his increase in weight. They say, as they

gain, they have to increase them.

I have thought about getting a second opinion, but I

don't want to upset the clinic that I'm going to now,

because they have been very good to us.

I have also wonder if I ask if they would do another

genetic test. My husband thought the same, but I told

him that I don't think the genetic test would be

false, but his response was, " Well, don't you believe

in miracles?? "

I wonder if you can have the genes and it be inactive.

Has anyone out there every expeirce anything like

this? Maybe I'm just grasping at straws, but to this

day when I look at my son, something is just nagging

at me, that there is a mistake in his dx. Maybe I'm

just a wishful mother, hoping for a miracle.

Lill, Mom of Bryce w/cf

[Guest guest]

Actually, the confusion comes due to the fact that there are many lung

diseases which cause pseudomonas auroginosa, which is why the docs

keep obsessing over sweat chloride tests and dna genotypes; they are trying

to get it right. Sometimes the best course during the interim is just to

treat the child for cf; if the results are good, the doctor would indeed be

wrong to

change the treatment barring very hard evidence. It is easier to assume cf is

in than it is to definitively rule it out, especially with rare genotypes

and/or

low sweat chloride levels; sometimes pancreatic function tests are helpful

here. I know; I was diagnosed (accurately) at birth in 1938; my cfer who was

born in 1966 was not definitively diagnosed until age 26, as dna testing be-

came more reliable; the whole family (clan) was retested at that time. By

then they could identify all of our family alleles, including my daughter's,

as

after all, she only gets one from me, which may be merciful! They always

treated her as cf until diagnosis, thank heavens.

n Rojas who hopes that this helps somewhat.

[Guest guest]

Lori,

We had 3 sweat test. The first being doing at a local

hospital which was negative.

The other 2 being done in the children hospital which

is also a the CF clinic for Mississippi. The 1st one

there was 90% postive, the next one was borderline in

the 40's, but our genetics showed 2 mutations.

Thanks for your response

Lill

--- Lori wrote:

> Without an actual lab error, I have never heard of

> the DNA test that shows

> two known CF mutations being inaccurate. That being

> said, with CF I firmly

> believe anything is possible - maybe not likely but

> possible. The sweat test

> can definitely be inaccurate. Did he have more than

> one positive one?

>

> There are two things you could do without directly

> addressing your clinic.

> The first is get your and your husband's mutations

> checked directly. You

> could say it is so you can tell your families what

> mutations they should be

> looking for. The other is to cut down on his enzymes

> and see if his poops

> hold. (This one I don't personally recommend unless

> you really think he

> doesn't need them and only if the DNA test for you

> and your husband shows

> something unexpected.)

>

> I have been having similar " wild " thoughts and have

> had the same trepidation

> about approaching our clinic. Scout was only given

> one sweat test at the

> height of her failure to thrive. Failure to thrive

> and similar conditions

> like anorexia can cause elevated sweat chloride.

> Then her DNA test came back

> with only one known mutation. I think it is normal

> to wonder. She has

> continued to have frequent " bad " poops even on her

> enzymes. This makes me

> concerned that the problem is either something not

> CF related or something

> in addition to CF. (I really think it is the later

> and that she does have

> CF.) I have eliminated gluten from her diet (still

> with enzymes) and her

> poops have been near perfect - with the exception of

> four days when she had

> a really bad head cold and a lot of snot was

> draining down there. Even with

> almost 2 weeks of this information I hesitate to

> approach my clinic so I

> completely understand where you are coming from.

>

> The fact is that CF is complicated and (luckily for

> some of us) not everyone

> starts out with lung involvement. We as parents

> don't want our children to

> have a fatal (even if a distant future fatal)

> disease. It is hard to

> separate that desire from evidence that perhaps

> there was a misdiagnosis. I

> would try to err on the side of the diagnosis being

> correct until you have

> good evidence to the other. The treatments for CF

> should be fairly safe for

> a non-CF child, but no treatment for a CF child can

> be costly (health wise).

>

> Good luck.

>

> Lori

> Mom to Scout 2 wCF

>

>

>

> advice on genetics and check up

>

> Hello,

>

> Well the cookbook fundraiser is going well. Friday

> is

> the last day for orders.

>

> On Monday we go for a 3mth check up. Bryce is

> really

> doing so well. We went yesterday for our 18mth

> check

> up with just our pediatrician. Monday is our check

> up

> for CF.

>

> I was just curious. Has anyone every expierced

> having

> a genetic test that could be inaccurate? Have you

> every had 2 done?? One that shows different

> results.

>

> Just wondering. The only severe problem my son has

> had is right after birth. He would not gain weight.

> Once they changed the formula he started gaining

> weight. Until he got use to the formula they had to

> put a NG tube in, but once he got use to it, he did

> fine. We have really had no respiratory problems,

> we

> have had one episode of psuedo, but Tobramycin took

> care of that. At every check up he has been just

> perfect. They have increased his enzymes, but

> mostly

> because of his increase in weight. They say, as

> they

> gain, they have to increase them.

>

> I have thought about getting a second opinion, but I

> don't want to upset the clinic that I'm going to

> now,

> because they have been very good to us.

>

> I have also wonder if I ask if they would do another

> genetic test. My husband thought the same, but I

> told

> him that I don't think the genetic test would be

> false, but his response was, " Well, don't you

> believe

> in miracles?? "

>

> I wonder if you can have the genes and it be

> inactive.

>

>

> Has anyone out there every expeirce anything like

> this? Maybe I'm just grasping at straws, but to

> this

> day when I look at my son, something is just nagging

> at me, that there is a mistake in his dx. Maybe I'm

> just a wishful mother, hoping for a miracle.

>

>

> Lill, Mom of Bryce w/cf

>

>

>

>

__________________________________________________

[Guest guest]

Lill,

My son also is very healthy. He has had no lung involvement, not even a

commom chest cold. He does not need enzymes (yet) either. Yet he had two

positive sweat tests, one at our local hospital and one at the cf clinic.

They also found two mutations when they did the DNA test. His only symptom

is profuse salty sweat. CF has such a wide range of severity, no two cases

are alike. Hopefully, our children will be some of the lucky ones that

don't have severe problems, but I doubt seriously the genetic tests could be

false.

Angie (mom to JC, 1 year old, wcf)

advice on genetics and check up

> Hello,

>

> Well the cookbook fundraiser is going well. Friday is

> the last day for orders.

>

> On Monday we go for a 3mth check up. Bryce is really

> doing so well. We went yesterday for our 18mth check

> up with just our pediatrician. Monday is our check up

> for CF.

>

> I was just curious. Has anyone every expierced having

> a genetic test that could be inaccurate? Have you

> every had 2 done?? One that shows different results.

>

> Just wondering. The only severe problem my son has

> had is right after birth. He would not gain weight.

> Once they changed the formula he started gaining

> weight. Until he got use to the formula they had to

> put a NG tube in, but once he got use to it, he did

> fine. We have really had no respiratory problems, we

> have had one episode of psuedo, but Tobramycin took

> care of that. At every check up he has been just

> perfect. They have increased his enzymes, but mostly

> because of his increase in weight. They say, as they

> gain, they have to increase them.

>

> I have thought about getting a second opinion, but I

> don't want to upset the clinic that I'm going to now,

> because they have been very good to us.

>

> I have also wonder if I ask if they would do another

> genetic test. My husband thought the same, but I told

> him that I don't think the genetic test would be

> false, but his response was, " Well, don't you believe

> in miracles?? "

>

> I wonder if you can have the genes and it be inactive.

>

>

> Has anyone out there every expeirce anything like

> this? Maybe I'm just grasping at straws, but to this

> day when I look at my son, something is just nagging

> at me, that there is a mistake in his dx. Maybe I'm

> just a wishful mother, hoping for a miracle.

>

>

> Lill, Mom of Bryce w/cf

>

> __________________________________________________

>

[Guest guest]

What are your mutations? I thought most borderline sweat tests were for

patients with pancreatic sufficient mutations.

Lori

Mom to Scout 2 wCF

advice on genetics and check up

>

> Hello,

>

> Well the cookbook fundraiser is going well. Friday

> is

> the last day for orders.

>

> On Monday we go for a 3mth check up. Bryce is

> really

> doing so well. We went yesterday for our 18mth

> check

> up with just our pediatrician. Monday is our check

> up

> for CF.

>

> I was just curious. Has anyone every expierced

> having

> a genetic test that could be inaccurate? Have you

> every had 2 done?? One that shows different

> results.

>

> Just wondering. The only severe problem my son has

> had is right after birth. He would not gain weight.

> Once they changed the formula he started gaining

> weight. Until he got use to the formula they had to

> put a NG tube in, but once he got use to it, he did

> fine. We have really had no respiratory problems,

> we

> have had one episode of psuedo, but Tobramycin took

> care of that. At every check up he has been just

> perfect. They have increased his enzymes, but

> mostly

> because of his increase in weight. They say, as

> they

> gain, they have to increase them.

>

> I have thought about getting a second opinion, but I

> don't want to upset the clinic that I'm going to

> now,

> because they have been very good to us.

>

> I have also wonder if I ask if they would do another

> genetic test. My husband thought the same, but I

> told

> him that I don't think the genetic test would be

> false, but his response was, " Well, don't you

> believe

> in miracles?? "

>

> I wonder if you can have the genes and it be

> inactive.

>

>

> Has anyone out there every expeirce anything like

> this? Maybe I'm just grasping at straws, but to

> this

> day when I look at my son, something is just nagging

> at me, that there is a mistake in his dx. Maybe I'm

> just a wishful mother, hoping for a miracle.

>

>

> Lill, Mom of Bryce w/cf

[Guest guest]

Lori,

To be completely honist, I can't remember. I remember

that we were told he had the 2 most common mutation.

I remember also, being told that his pancreatis was

not releasing the enzymes that he needed to digest his

food.

We go for our check up Monday and I'm going to ask

that.

LIll

--- Lori wrote:

> What are your mutations? I thought most borderline

> sweat tests were for

> patients with pancreatic sufficient mutations.

>

> Lori

> Mom to Scout 2 wCF

>

>

> advice on genetics and check

> up

> >

> > Hello,

> >

> > Well the cookbook fundraiser is going well.

> Friday

> > is

> > the last day for orders.

> >

> > On Monday we go for a 3mth check up. Bryce is

> > really

> > doing so well. We went yesterday for our 18mth

> > check

> > up with just our pediatrician. Monday is our

> check

> > up

> > for CF.

> >

> > I was just curious. Has anyone every expierced

> > having

> > a genetic test that could be inaccurate? Have you

> > every had 2 done?? One that shows different

> > results.

> >

> > Just wondering. The only severe problem my son

> has

> > had is right after birth. He would not gain

> weight.

> > Once they changed the formula he started gaining

> > weight. Until he got use to the formula they had

> to

> > put a NG tube in, but once he got use to it, he

> did

> > fine. We have really had no respiratory problems,

> > we

> > have had one episode of psuedo, but Tobramycin

> took

> > care of that. At every check up he has been just

> > perfect. They have increased his enzymes, but

> > mostly

> > because of his increase in weight. They say, as

> > they

> > gain, they have to increase them.

> >

> > I have thought about getting a second opinion, but

> I

> > don't want to upset the clinic that I'm going to

> > now,

> > because they have been very good to us.

> >

> > I have also wonder if I ask if they would do

> another

> > genetic test. My husband thought the same, but I

> > told

> > him that I don't think the genetic test would be

> > false, but his response was, " Well, don't you

> > believe

> > in miracles?? "

> >

> > I wonder if you can have the genes and it be

> > inactive.

> >

> >

> > Has anyone out there every expeirce anything like

> > this? Maybe I'm just grasping at straws, but to

> > this

> > day when I look at my son, something is just

> nagging

> > at me, that there is a mistake in his dx. Maybe

> I'm

> > just a wishful mother, hoping for a miracle.

> >

> >

> > Lill, Mom of Bryce w/cf

>

>

>

__________________________________________________

[Guest guest]

Lori,

To be completely honist, I can't remember. I remember

that we were told he had the 2 most common mutation.

I remember also, being told that his pancreatis was

not releasing the enzymes that he needed to digest his

food.

We go for our check up Monday and I'm going to ask

that.

LIll

--- Lori wrote:

> What are your mutations? I thought most borderline

> sweat tests were for

> patients with pancreatic sufficient mutations.

>

> Lori

> Mom to Scout 2 wCF

>

>

> advice on genetics and check

> up

> >

> > Hello,

> >

> > Well the cookbook fundraiser is going well.

> Friday

> > is

> > the last day for orders.

> >

> > On Monday we go for a 3mth check up. Bryce is

> > really

> > doing so well. We went yesterday for our 18mth

> > check

> > up with just our pediatrician. Monday is our

> check

> > up

> > for CF.

> >

> > I was just curious. Has anyone every expierced

> > having

> > a genetic test that could be inaccurate? Have you

> > every had 2 done?? One that shows different

> > results.

> >

> > Just wondering. The only severe problem my son

> has

> > had is right after birth. He would not gain

> weight.

> > Once they changed the formula he started gaining

> > weight. Until he got use to the formula they had

> to

> > put a NG tube in, but once he got use to it, he

> did

> > fine. We have really had no respiratory problems,

> > we

> > have had one episode of psuedo, but Tobramycin

> took

> > care of that. At every check up he has been just

> > perfect. They have increased his enzymes, but

> > mostly

> > because of his increase in weight. They say, as

> > they

> > gain, they have to increase them.

> >

> > I have thought about getting a second opinion, but

> I

> > don't want to upset the clinic that I'm going to

> > now,

> > because they have been very good to us.

> >

> > I have also wonder if I ask if they would do

> another

> > genetic test. My husband thought the same, but I

> > told

> > him that I don't think the genetic test would be

> > false, but his response was, " Well, don't you

> > believe

> > in miracles?? "

> >

> > I wonder if you can have the genes and it be

> > inactive.

> >

> >

> > Has anyone out there every expeirce anything like

> > this? Maybe I'm just grasping at straws, but to

> > this

> > day when I look at my son, something is just

> nagging

> > at me, that there is a mistake in his dx. Maybe

> I'm

> > just a wishful mother, hoping for a miracle.

> >

> >

> > Lill, Mom of Bryce w/cf

>

>

>

__________________________________________________