Need some advice!

[anonymous]

Hey all! I was looking over the website and got more nervous with the amount of information that is given! My son is 6yrs old and weighs 37 pounds (with his clothes on). I've never worried too much about his weight because he was born 5 weeks early and has always been small. He was diagnosed with asthma at age 2 and is on a breathing matchine with Xopenx, Pulmicort and Albuterrol drops daily. He still has presisent colds! The last time he was in the hospital for an asthma attack (Oxygen dipped to 75), our pediatrician ordered an allergy specialitist to visit us so we could dtermine what was triggering the attacks, after extensive testing we learned he is allergic to mold, but has our house tested and no mold! He has had pneomonia 4 times in the last 3 years and had the flu 3 times last year on top on numerous bronchitis.
At his 6 year old check up (last week). Our pediatriacan was reviewing his chart and suggeted we do a CF screening test on him. The sweat test came back abnormal (80), so he ordered more blood work. We haven't talked to the doctor at all and he said he would call when the blood work came back. How likely do you think it is that he has CF? Is this a late diagnosis? With all the signs leaning in that direction, should we seek a second opinion if the pediatrican says no? I want to be prepared when we go to see him for the resutls? IS there anything that I need to ask about specifically?
Thanks!

 

[anonymous]

Hey all! I was looking over the website and got more nervous with the amount of information that is given! My son is 6yrs old and weighs 37 pounds (with his clothes on). I've never worried too much about his weight because he was born 5 weeks early and has always been small. He was diagnosed with asthma at age 2 and is on a breathing matchine with Xopenx, Pulmicort and Albuterrol drops daily. He still has presisent colds! The last time he was in the hospital for an asthma attack (Oxygen dipped to 75), our pediatrician ordered an allergy specialitist to visit us so we could dtermine what was triggering the attacks, after extensive testing we learned he is allergic to mold, but has our house tested and no mold! He has had pneomonia 4 times in the last 3 years and had the flu 3 times last year on top on numerous bronchitis.
At his 6 year old check up (last week). Our pediatriacan was reviewing his chart and suggeted we do a CF screening test on him. The sweat test came back abnormal (80), so he ordered more blood work. We haven't talked to the doctor at all and he said he would call when the blood work came back. How likely do you think it is that he has CF? Is this a late diagnosis? With all the signs leaning in that direction, should we seek a second opinion if the pediatrican says no? I want to be prepared when we go to see him for the resutls? IS there anything that I need to ask about specifically?
Thanks!

 

[anonymous]

I would say that your son has CF, so if for some reason the ped. comes back and says that they did not find 2 mutations on the genetic screen (which can happen - that is what happened with my daughter) than you need to demand another genetic test that looks more in depth at the genes. There is a company called Quest that can identify 99% of the thousands of mutations. I am actually concerned that your pediatrician did not refer you to a CF clinic right away bc he should start taking enzymes NOW and I am sure they will have other things for him to do to help get his health back in order. If I were you, I would go to www.cff.org and search for the nearest clinic - then make the call yourself bc it could take a couple of weeks to get the genetic results. My daughter was treated soley based on a positive sweat test for a couple of months before her genetic test came back. The genetic test had only found one mutation. After doing testing with Quest, we were finally able to identify her second muation (alhtough we NEVER thought for a second that there wasn't a second mutation.)

My best advice is to get on the ball NOW bc it may take your ped a while to accept this diagnosis (after all, it means that he/she has missed it all these years). You can read a lot of good info on cff.org. Please do not be too scared by this diagnosis bc it will be the best thing for you son so far, since it means he will the the treatments/care he has been needing all of these years.

Big Hugs & Best Wishes!
Kelli - mom of Sydney 2.5 wcf
<a target=new class=ftalternatingbarlinklarge href="http://members.tripod.com/sydneymyers-ivil/">http://members.tripod.com/sydneymyers-ivil/</a>

 

[anonymous]

I would say that your son has CF, so if for some reason the ped. comes back and says that they did not find 2 mutations on the genetic screen (which can happen - that is what happened with my daughter) than you need to demand another genetic test that looks more in depth at the genes. There is a company called Quest that can identify 99% of the thousands of mutations. I am actually concerned that your pediatrician did not refer you to a CF clinic right away bc he should start taking enzymes NOW and I am sure they will have other things for him to do to help get his health back in order. If I were you, I would go to www.cff.org and search for the nearest clinic - then make the call yourself bc it could take a couple of weeks to get the genetic results. My daughter was treated soley based on a positive sweat test for a couple of months before her genetic test came back. The genetic test had only found one mutation. After doing testing with Quest, we were finally able to identify her second muation (alhtough we NEVER thought for a second that there wasn't a second mutation.)

My best advice is to get on the ball NOW bc it may take your ped a while to accept this diagnosis (after all, it means that he/she has missed it all these years). You can read a lot of good info on cff.org. Please do not be too scared by this diagnosis bc it will be the best thing for you son so far, since it means he will the the treatments/care he has been needing all of these years.

Big Hugs & Best Wishes!
Kelli - mom of Sydney 2.5 wcf
<a target=new class=ftalternatingbarlinklarge href="http://members.tripod.com/sydneymyers-ivil/">http://members.tripod.com/sydneymyers-ivil/</a>

 

[anonymous]

Sweat test results of under 40 are considered normal (no CF) 40-60 are considered borderline/inconclusive so 80 would come out on the more CF-indicative side of things. Blood testing (genetic test) can verify the sweat but be aware that most places doing bloodwork only test for the most common CF genetic mutations (something like 25 out of 1,000). Testing from Quest Diagnostics and from Ambry Labs will, I believe, pick up all of the known variations. If you use the search function on this forum you'll find lots of discussion threads about diagnosis of CF and lots of moral support to go with it.

 

[anonymous]

Sweat test results of under 40 are considered normal (no CF) 40-60 are considered borderline/inconclusive so 80 would come out on the more CF-indicative side of things. Blood testing (genetic test) can verify the sweat but be aware that most places doing bloodwork only test for the most common CF genetic mutations (something like 25 out of 1,000). Testing from Quest Diagnostics and from Ambry Labs will, I believe, pick up all of the known variations. If you use the search function on this forum you'll find lots of discussion threads about diagnosis of CF and lots of moral support to go with it.

 

[anonymous]

FYI-The most commonly used labs for genetic CF testing are Genzmye and Ambry. Genzyme looks for approx 40ish mutations and Ambry looks for more like 80ish mutations but I don't know either of the exact numbers they look for, just wanting to give you a ballpark idea. Both of these labs just scan for the mutations, while Quest acually looks at the entire CFTR protien of the individual and looks for any/all mutations found throughout the entire protein.

 

[anonymous]

FYI-The most commonly used labs for genetic CF testing are Genzmye and Ambry. Genzyme looks for approx 40ish mutations and Ambry looks for more like 80ish mutations but I don't know either of the exact numbers they look for, just wanting to give you a ballpark idea. Both of these labs just scan for the mutations, while Quest acually looks at the entire CFTR protien of the individual and looks for any/all mutations found throughout the entire protein.

 

[anonymous]

Does Genzyem look for the Delta f508 mutation?

 

[anonymous]

Does Genzyem look for the Delta f508 mutation?

 

[anonymous]

Yes, both Genzyme and Ambry look for the DF508, which something like 50% of pwcf have 2 copies of and 40% of pwcf have one copy of (along with another mutation obviously).

 

[anonymous]

Yes, both Genzyme and Ambry look for the DF508, which something like 50% of pwcf have 2 copies of and 40% of pwcf have one copy of (along with another mutation obviously).

 

[julie]

A better "extended testing" lab than Ambry (which analyzes approx. 1000 mutations) is QUEST DIAGNOSTICS Laboratory. THey are reputable, been aroudn for a lONG time, familiar with insurance companies... people have had much more success (and more accurate results) with Quest vice Ambry.


As to the initial poster, I am sorry for the dianosis, it's tough but we are here to help, answer your questions, listen when you need to rant and rave! I can without a dobut from all the medical problems you mentioned, combined with a sweat test result of 80 that your child ABSOLUTELY does have CF. Blood work usually takes 2-6 weeks to come back, sometimes longer if you elect an extended panel. The common laboratories (i.e. genzyme) just test for the most common 25-89 mutations. Quest tests for nearly 1100 so you can understand it takes a bit longer.

As far as it being a late diagnosis, that's a yes and no answer. There are some adults on this board (20's and 30's) who were just diagnosed in the last few years. Most babies who have "common CF mutations" are now being caught at birth with the new testings across most states. Many school aged children seem to be diagnosed lately (there has been an influx of new parents with new or pending diagnoses for 4-8 year olds on this board lately), maybe it's more awareness, maybe it's parents pushing harder.... In the scheme of things, this isn't really a late diagnosis and it's definately not too late to start treating your child to prevent damage (or further damage) to lungs and digestive tract.

Some things to ask your doctor about if the diagnosis is + are,
1. Can you get the vest for airway clearance, and have them train you on manual chest PT as well
2. conduct a sputum culture ASAP,
3. have doctor submit a request for a nebulizer through your insurance company,
4. ask the doctor about a flutter valve (some clinics give them out, sometimes you have to order them through Axcan Scandipharm)
5. if you are NOT currently being tested at an accredited CF clinic. GET A REFERRAL TO ONE!!! A pediatrician is a great doctor to have, but they aren't CF specialists. Your child's health can/will suffer if they don't get the proper treatment

We can help you with questions too as they come up, don't be a stranger.

 

[julie]

A better "extended testing" lab than Ambry (which analyzes approx. 1000 mutations) is QUEST DIAGNOSTICS Laboratory. THey are reputable, been aroudn for a lONG time, familiar with insurance companies... people have had much more success (and more accurate results) with Quest vice Ambry.


As to the initial poster, I am sorry for the dianosis, it's tough but we are here to help, answer your questions, listen when you need to rant and rave! I can without a dobut from all the medical problems you mentioned, combined with a sweat test result of 80 that your child ABSOLUTELY does have CF. Blood work usually takes 2-6 weeks to come back, sometimes longer if you elect an extended panel. The common laboratories (i.e. genzyme) just test for the most common 25-89 mutations. Quest tests for nearly 1100 so you can understand it takes a bit longer.

As far as it being a late diagnosis, that's a yes and no answer. There are some adults on this board (20's and 30's) who were just diagnosed in the last few years. Most babies who have "common CF mutations" are now being caught at birth with the new testings across most states. Many school aged children seem to be diagnosed lately (there has been an influx of new parents with new or pending diagnoses for 4-8 year olds on this board lately), maybe it's more awareness, maybe it's parents pushing harder.... In the scheme of things, this isn't really a late diagnosis and it's definately not too late to start treating your child to prevent damage (or further damage) to lungs and digestive tract.

Some things to ask your doctor about if the diagnosis is + are,
1. Can you get the vest for airway clearance, and have them train you on manual chest PT as well
2. conduct a sputum culture ASAP,
3. have doctor submit a request for a nebulizer through your insurance company,
4. ask the doctor about a flutter valve (some clinics give them out, sometimes you have to order them through Axcan Scandipharm)
5. if you are NOT currently being tested at an accredited CF clinic. GET A REFERRAL TO ONE!!! A pediatrician is a great doctor to have, but they aren't CF specialists. Your child's health can/will suffer if they don't get the proper treatment

We can help you with questions too as they come up, don't be a stranger.

 

[anonymous]

I would definitely seek out an accredited CF clinic. Your child can start treatment based on the sweat test alone. I would not wait for the genetic testing to come back.

 

[anonymous]

I would definitely seek out an accredited CF clinic. Your child can start treatment based on the sweat test alone. I would not wait for the genetic testing to come back.

 

[kgoodson]

Do you know if I have to be referred to a specialist or care center? I would like to go ahead and make an appointment instead of continuing to wait on the pediatrician, based on everyone's comments. Thank you so much for your help! This is a great forum with a wealth of knowledge. No one knows more than mom's that care!
Thanks Again!

 

[kgoodson]

Do you know if I have to be referred to a specialist or care center? I would like to go ahead and make an appointment instead of continuing to wait on the pediatrician, based on everyone's comments. Thank you so much for your help! This is a great forum with a wealth of knowledge. No one knows more than mom's that care!
Thanks Again!

 

[anonymous]

Kelli,
Check check www.cff.org for an accredited clinic near you. Don't be discouraged if the closest one is a few hours away, many have satellite clinics. For example, Riley Children's in Indianapolis, IN, has satellite clinics that come to other towns in Indiana, even as far away as 3 hrs drive. In most cases, the pulmonologists only come 2 days per month but there is a nurse hotline available all week long, as well as an NP or RT available at the satellite clinics a few days per month. Find the nearest accredited clinic near you that will accept your insurance and call the nurses. Explain the situation, offer to sign a release and have the lab send results of your child's sweat chloride test to them, and chances are, unless your insurance requires a referral, they will take you without the pedi's referral, or at least may be able to advise you how to get the pedi's referral.

For example, Riley's won't accept asthma patients without a referral unless the patient pays up front, but they treat cf patients very differently and will accept them as long as their insurance doesn't require a referral.
Good luck!!

 

[anonymous]

Kelli,
Check check www.cff.org for an accredited clinic near you. Don't be discouraged if the closest one is a few hours away, many have satellite clinics. For example, Riley Children's in Indianapolis, IN, has satellite clinics that come to other towns in Indiana, even as far away as 3 hrs drive. In most cases, the pulmonologists only come 2 days per month but there is a nurse hotline available all week long, as well as an NP or RT available at the satellite clinics a few days per month. Find the nearest accredited clinic near you that will accept your insurance and call the nurses. Explain the situation, offer to sign a release and have the lab send results of your child's sweat chloride test to them, and chances are, unless your insurance requires a referral, they will take you without the pedi's referral, or at least may be able to advise you how to get the pedi's referral.

For example, Riley's won't accept asthma patients without a referral unless the patient pays up front, but they treat cf patients very differently and will accept them as long as their insurance doesn't require a referral.
Good luck!!