Positive sweat test and now maybe not CF?

[grannylana]

In response to you all - yes we are going to our second CF center in Missouri. The first would not return my daughter in laws calls or even explain things to her so we switched and so far love the type of care and concern from the doctor here. However they ran what they called the first round of genetic screening at Cf center # 1 and it came back with none found. Then the new doctor ran the second round and as of this week it also had no positive mutations. I also asked why not the full panel from the start and was told insurance was the reason they are taking it in stages. Stage 2 supposedly has us down to 98% and still have found none. The nurse practitioner said if it isnt in the first 98% then she probably does not have it and she is also the one that said they look for an 80 on the sweat test. We had been told and told 60 and above are positive. So now we wait for the 3rd round to come back and the doctor says he will still treat her for CF but not diagnose it yet. Our problem will be if they dont find anything in this last screening the kids(my son and daughter in law) will not be eligilble for any help down the line should they need it. Their 3 yr old son has auto immune deficiencies and so they already have some medical bills for a young couple. However their son had a negative sweat test. We rejoiced. They have looked into the other disease that has positive sweat test but have been assured that isnt her problem. I think someone called it Addisons, my daughter in law used a much longer name but the same thing. I did think it was have it or not so we were quite confused by all this.

Thanks and we will keep asking questions so if you know of anything else we need to do please advise us newcomers.

Grannylana
Mother of 4, granny of 7, only 1 with CF so far?????

 

[grannylana]

Thanks for asking -
I am going to ask my son and daughter in law exactly what the name of the screening is that is being done on El.

I also was upset again to think that because of insurance we are waiting and waiting when a fell screening should have been done the first time and we would not have had to wait for the 2nd and 3 rd.

Als someone asked me about her weight - she will be 6 in June and was weighing about 48 lbs as of 3 months ago then she went down to 40 lbs. She is in the upper 75% for height. Her daddy is 6'4 and our entire family is tall - except her mommy.
For a grandmother looking at the dark circles under the eyes, that used to be so bright is really frustrating when we have tried to get answers.

We will keep at it no matter what - until we get an answer.

Thanks so much

Grannylana

Mother of 4, granny of 7, only 1 with CF so far?

 

[grannylana]

Thanks for asking -
I am going to ask my son and daughter in law exactly what the name of the screening is that is being done on El.

I also was upset again to think that because of insurance we are waiting and waiting when a fell screening should have been done the first time and we would not have had to wait for the 2nd and 3 rd.

Als someone asked me about her weight - she will be 6 in June and was weighing about 48 lbs as of 3 months ago then she went down to 40 lbs. She is in the upper 75% for height. Her daddy is 6'4 and our entire family is tall - except her mommy.
For a grandmother looking at the dark circles under the eyes, that used to be so bright is really frustrating when we have tried to get answers.

We will keep at it no matter what - until we get an answer.

Thanks so much

Grannylana

Mother of 4, granny of 7, only 1 with CF so far?

 

[grannylana]

Thanks for asking -
I am going to ask my son and daughter in law exactly what the name of the screening is that is being done on El.

I also was upset again to think that because of insurance we are waiting and waiting when a fell screening should have been done the first time and we would not have had to wait for the 2nd and 3 rd.

Als someone asked me about her weight - she will be 6 in June and was weighing about 48 lbs as of 3 months ago then she went down to 40 lbs. She is in the upper 75% for height. Her daddy is 6'4 and our entire family is tall - except her mommy.
For a grandmother looking at the dark circles under the eyes, that used to be so bright is really frustrating when we have tried to get answers.

We will keep at it no matter what - until we get an answer.

Thanks so much

Grannylana

Mother of 4, granny of 7, only 1 with CF so far?

 

[okok]

I think if you are 98% sure there are no mutations then either the ambry or quest genetic screen was preformed without the deletion/duplication screening (just sequencing). I think Quest now offers deletion/duplication screening too so the results are just as good as ambry. With the deletion/duplication screen there is a 99% certaintity that all mutations have or have not been (as the case may be) detected.

It is pretty typical for the insurance companies to run the cheaper tests first. I think it is very rare that anyone immediatly get the ambry amplified test without any other genetic testing. The waiting is so hard though! The reason they do that is because most cfers mutations show up on the cheaper screens.

I was mentioning your granddaughter's weight because i have heard that when young childern are underweight there sweat chloride can be elevated. In other words an underweight child might test positive on the sweat test without having CF just because he/she is underweight.

I really hope things work out. If the doctor diagnoses your granddaughter with CF despite the fact that no mutations were found is she elgible fo support in that case? I can't imagine whether or not she has mutations would matter with a CF diagnosis. Still i think it is in your granddaughter's best interest that they explore other possibilities than CF in case something else is going on.

good luck!

 

[okok]

I think if you are 98% sure there are no mutations then either the ambry or quest genetic screen was preformed without the deletion/duplication screening (just sequencing). I think Quest now offers deletion/duplication screening too so the results are just as good as ambry. With the deletion/duplication screen there is a 99% certaintity that all mutations have or have not been (as the case may be) detected.

It is pretty typical for the insurance companies to run the cheaper tests first. I think it is very rare that anyone immediatly get the ambry amplified test without any other genetic testing. The waiting is so hard though! The reason they do that is because most cfers mutations show up on the cheaper screens.

I was mentioning your granddaughter's weight because i have heard that when young childern are underweight there sweat chloride can be elevated. In other words an underweight child might test positive on the sweat test without having CF just because he/she is underweight.

I really hope things work out. If the doctor diagnoses your granddaughter with CF despite the fact that no mutations were found is she elgible fo support in that case? I can't imagine whether or not she has mutations would matter with a CF diagnosis. Still i think it is in your granddaughter's best interest that they explore other possibilities than CF in case something else is going on.

good luck!

 

[okok]

I think if you are 98% sure there are no mutations then either the ambry or quest genetic screen was preformed without the deletion/duplication screening (just sequencing). I think Quest now offers deletion/duplication screening too so the results are just as good as ambry. With the deletion/duplication screen there is a 99% certaintity that all mutations have or have not been (as the case may be) detected.

It is pretty typical for the insurance companies to run the cheaper tests first. I think it is very rare that anyone immediatly get the ambry amplified test without any other genetic testing. The waiting is so hard though! The reason they do that is because most cfers mutations show up on the cheaper screens.

I was mentioning your granddaughter's weight because i have heard that when young childern are underweight there sweat chloride can be elevated. In other words an underweight child might test positive on the sweat test without having CF just because he/she is underweight.

I really hope things work out. If the doctor diagnoses your granddaughter with CF despite the fact that no mutations were found is she elgible fo support in that case? I can't imagine whether or not she has mutations would matter with a CF diagnosis. Still i think it is in your granddaughter's best interest that they explore other possibilities than CF in case something else is going on.

good luck!

 

[PACmommy]

This is just a thought and it might totally be out in left field.
Have they ever considered that the lung problems were a coincidence and that this may be a gastric problem? I just ask because you mentioned bleeding from the bowels. My brother, when he was in college started having diarrhea and bleeding from the bowels, it also caused severe weight loss everytime he had a bad flareup. It took awhile but he was eventually diagnosed with ulcerative colitis byway of doing a colonoscopy and finding the bleeding ulcers.
It may be worth exploring by finding a specialist in gastroentrology. A colonoscopy can be scary and uncomfortable for a little one, I would recommend sedation. My brother is now a grown man and he dreads his appointments.

 

[PACmommy]

This is just a thought and it might totally be out in left field.
Have they ever considered that the lung problems were a coincidence and that this may be a gastric problem? I just ask because you mentioned bleeding from the bowels. My brother, when he was in college started having diarrhea and bleeding from the bowels, it also caused severe weight loss everytime he had a bad flareup. It took awhile but he was eventually diagnosed with ulcerative colitis byway of doing a colonoscopy and finding the bleeding ulcers.
It may be worth exploring by finding a specialist in gastroentrology. A colonoscopy can be scary and uncomfortable for a little one, I would recommend sedation. My brother is now a grown man and he dreads his appointments.

 

[PACmommy]

This is just a thought and it might totally be out in left field.
Have they ever considered that the lung problems were a coincidence and that this may be a gastric problem? I just ask because you mentioned bleeding from the bowels. My brother, when he was in college started having diarrhea and bleeding from the bowels, it also caused severe weight loss everytime he had a bad flareup. It took awhile but he was eventually diagnosed with ulcerative colitis byway of doing a colonoscopy and finding the bleeding ulcers.
It may be worth exploring by finding a specialist in gastroentrology. A colonoscopy can be scary and uncomfortable for a little one, I would recommend sedation. My brother is now a grown man and he dreads his appointments.

 

[grannylana]

Ely has had upper and lower GI but not a colonoscopy as of yet. I will talk to my son and daughter in law about this and see what they think.
At this point I am willing to try most things that arent painful for a little one.
They have increased her enzymes last week since her weight gain is so slow but the enzymes seem to have stopped her diarrhea problems.
But like you say maybe it is all a big coincidence.
We will keep searching no matter what - and prayers are being heard from all over our state for her I know! Large families - spread very wide paths - lol.

Grannylana

 

[grannylana]

Ely has had upper and lower GI but not a colonoscopy as of yet. I will talk to my son and daughter in law about this and see what they think.
At this point I am willing to try most things that arent painful for a little one.
They have increased her enzymes last week since her weight gain is so slow but the enzymes seem to have stopped her diarrhea problems.
But like you say maybe it is all a big coincidence.
We will keep searching no matter what - and prayers are being heard from all over our state for her I know! Large families - spread very wide paths - lol.

Grannylana

 

[grannylana]

Ely has had upper and lower GI but not a colonoscopy as of yet. I will talk to my son and daughter in law about this and see what they think.
At this point I am willing to try most things that arent painful for a little one.
They have increased her enzymes last week since her weight gain is so slow but the enzymes seem to have stopped her diarrhea problems.
But like you say maybe it is all a big coincidence.
We will keep searching no matter what - and prayers are being heard from all over our state for her I know! Large families - spread very wide paths - lol.

Grannylana

 

[Twogreatkids]

Hi! Just curious what center in MO you are going to? If you don't feel comfortable saying, I understand, but we are in MO and have had a few issues with some of the clinics here also. Our son had two borderline tests (45 and 53), and was negative on the 100 panel genetic screen. The one clinic refused to test further stating that only "research hospitals" do that. So, we are looking into going to another center in the state. Thanks and good luck!

 

[Twogreatkids]

Hi! Just curious what center in MO you are going to? If you don't feel comfortable saying, I understand, but we are in MO and have had a few issues with some of the clinics here also. Our son had two borderline tests (45 and 53), and was negative on the 100 panel genetic screen. The one clinic refused to test further stating that only "research hospitals" do that. So, we are looking into going to another center in the state. Thanks and good luck!

 

[Twogreatkids]

Hi! Just curious what center in MO you are going to? If you don't feel comfortable saying, I understand, but we are in MO and have had a few issues with some of the clinics here also. Our son had two borderline tests (45 and 53), and was negative on the 100 panel genetic screen. The one clinic refused to test further stating that only "research hospitals" do that. So, we are looking into going to another center in the state. Thanks and good luck!

 

[grannylana]

No I dont mind - we started at St Louis Childrens Hospital and I am sure they have a great rep but it just wasnt for us. My daughter in law hated not being able to speak to someone when she needed to - etc.
So now we go to Childrens Mercy in KC and love it - just the waiting. Doctor told all grandparents he would not diagnose something so life changing without all the tests being 100% complete and finding the mutation. However he did say they would continue to treat her for CF since it obviously was working. And so we continue to wait. I am told this 3rd round takes several weeks - and she is actually feeling pretty good right now.
Of course she doesnt always want to stop and taking breathing treatments - so I have decided to pay her - like an allowance. Anything to make it easier for my son and daughter in law. I wont do it forever of course but a quarter seems like nothing to me and a big deal when you are almost 6. Each time she takes her treatment without grumbling my daughter in law keeps track and granny pays her a quarter each time. She may be little but loves to shop - lol.
Hope you have good luck in MO.
I have a friend who goes to Univ at Columbia and seems very happy with them and has for years. In our small town we have a family that has been dealing with this for 13 years and have been everywhere. They lost a daughter about 2 yrs ago and now the son is very ill but keeps going and smiling. They suggested KC and we felt after 13 yrs they should know.

Good Luck to you
grannylana

 

[grannylana]

No I dont mind - we started at St Louis Childrens Hospital and I am sure they have a great rep but it just wasnt for us. My daughter in law hated not being able to speak to someone when she needed to - etc.
So now we go to Childrens Mercy in KC and love it - just the waiting. Doctor told all grandparents he would not diagnose something so life changing without all the tests being 100% complete and finding the mutation. However he did say they would continue to treat her for CF since it obviously was working. And so we continue to wait. I am told this 3rd round takes several weeks - and she is actually feeling pretty good right now.
Of course she doesnt always want to stop and taking breathing treatments - so I have decided to pay her - like an allowance. Anything to make it easier for my son and daughter in law. I wont do it forever of course but a quarter seems like nothing to me and a big deal when you are almost 6. Each time she takes her treatment without grumbling my daughter in law keeps track and granny pays her a quarter each time. She may be little but loves to shop - lol.
Hope you have good luck in MO.
I have a friend who goes to Univ at Columbia and seems very happy with them and has for years. In our small town we have a family that has been dealing with this for 13 years and have been everywhere. They lost a daughter about 2 yrs ago and now the son is very ill but keeps going and smiling. They suggested KC and we felt after 13 yrs they should know.

Good Luck to you
grannylana

 

[grannylana]

No I dont mind - we started at St Louis Childrens Hospital and I am sure they have a great rep but it just wasnt for us. My daughter in law hated not being able to speak to someone when she needed to - etc.
So now we go to Childrens Mercy in KC and love it - just the waiting. Doctor told all grandparents he would not diagnose something so life changing without all the tests being 100% complete and finding the mutation. However he did say they would continue to treat her for CF since it obviously was working. And so we continue to wait. I am told this 3rd round takes several weeks - and she is actually feeling pretty good right now.
Of course she doesnt always want to stop and taking breathing treatments - so I have decided to pay her - like an allowance. Anything to make it easier for my son and daughter in law. I wont do it forever of course but a quarter seems like nothing to me and a big deal when you are almost 6. Each time she takes her treatment without grumbling my daughter in law keeps track and granny pays her a quarter each time. She may be little but loves to shop - lol.
Hope you have good luck in MO.
I have a friend who goes to Univ at Columbia and seems very happy with them and has for years. In our small town we have a family that has been dealing with this for 13 years and have been everywhere. They lost a daughter about 2 yrs ago and now the son is very ill but keeps going and smiling. They suggested KC and we felt after 13 yrs they should know.

Good Luck to you
grannylana

 

[grannylana]

No I dont mind - we started at St Louis Childrens Hospital and I am sure they have a great rep but it just wasnt for us. My daughter in law hated not being able to speak to someone when she needed to - etc.
So now we go to Childrens Mercy in KC and love it - just the waiting. Doctor told all grandparents he would not diagnose something so life changing without all the tests being 100% complete and finding the mutation. However he did say they would continue to treat her for CF since it obviously was working. And so we continue to wait. I am told this 3rd round takes several weeks - and she is actually feeling pretty good right now.
Of course she doesnt always want to stop and taking breathing treatments - so I have decided to pay her - like an allowance. Anything to make it easier for my son and daughter in law. I wont do it forever of course but a quarter seems like nothing to me and a big deal when you are almost 6. Each time she takes her treatment without grumbling my daughter in law keeps track and granny pays her a quarter each time. She may be little but loves to shop - lol.
Hope you have good luck in MO.
I have a friend who goes to Univ at Columbia and seems very happy with them and has for years. In our small town we have a family that has been dealing with this for 13 years and have been everywhere. They lost a daughter about 2 yrs ago and now the son is very ill but keeps going and smiling. They suggested KC and we felt after 13 yrs they should know.

Good Luck to you
grannylana