RESULTS ARE IN

candiebar76

New member
We just got told over the phone that the 36 panel DNA mutation test came back negetive. This is crazy but I am not as happy as I thought I would be. This puts us back at square one. I am not sure where to go from here. How much do you fight? Is it likely that not even 1 mutation would show up on the standard test? This was at a non CF hospital. I feel lost. Why does my son have to go thru this?
Candace

I don't know if I trust this hospital as they are the ones that said 49 was good for the SWCL test. I will look over the report tomorrow after I pick it up.
 

Seana30

New member
Candace,

I understand how you feel! It is not that you wanted your child to have CF but to be back at square one really sucks!!

I'm not sure what advice to give you. If you still feel strongly that it is CF I would suggest the DNA test that tests for ALL mutations.

We still do not know what Courtney's second mutation is. We only know that she has the DF508.

Hang in there!!!

Seana
 

Emily65Roses

New member
The 36 panel test isn't that great. It's only 36. There are <i>hundreds</i>, at least. I myself have a DeltaF508, which is the most common, easiest to find. When they found what gene caused CF (I was 5 years old), they found my other mutation and it didn't even have a NAME, it was so rare (mind you, now it does, and it's in the 80-90 mutation test). This was of course back in 1989. But point being, they should really test your child for the more widely covered one, that tests for something like... 80-90 mutations.

<b>Edited to add:</b> There's another test that tests for like... all of them. But it's expensive as sin. If they don't want to cover that one yet, try the 80-90 one first. If that one turns up negative, then push for the full scan thingie.
 

Alyssa

New member
Yes it is <b>very likely </b>that they could miss both mutations on a panel of only 36 !! There are <b>over 1300 known </b>CF mutations. ~ <b>keep pushing </b>for a referral to a CF accredited facility and for full genetic testing.
 

Brad

New member
My tests were done at Georgetown and at

Duke, it took months and months to find the culprits.


Sounds like they need to look at the Rare Genes

That is what they called mine,,,,,

But, I really Hope that after all the right testing is done
they find Your Child Cf Free !!!!!

Whouldn't that be wonderful !!!!!!
 

anonymous

New member
My daughter was tested for many (uncountable #'s) of mutations and nothing showed. Our docoor at CF center said that was a good sign and the think she has a more mild case. After a while insurance won't continue paying for testing anyway. Now she's 3 and we see her docotr every 3 months and they treat her for any & all symptoms. She's doing great. It's very frustrating but keep the faith - you'll get throuhg it.
 

NoExcuses

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>candiebar76</b></i>

We just got told over the phone that the 36 panel DNA mutation test came back negetive. This is crazy but I am not as happy as I thought I would be. This puts us back at square one. I am not sure where to go from here. How much do you fight? Is it likely that not even 1 mutation would show up on the standard test? This was at a non CF hospital. I feel lost. Why does my son have to go thru this?

Candace



I don't know if I trust this hospital as they are the ones that said 49 was good for the SWCL test. I will look over the report tomorrow after I pick it up.</end quote></div>

what country do you live in again?
 

DietRootBeer

New member
Hello!

At my hospital sweat test=49 is borderline! Absolutely get the DNA test that looks at ALL mutation. FYI: My step-son with CF has 2 RARE mutations only picked up by the AMBRY GENETICS type test.


Go with your gut feeling! Have him tested...

Let us know!
 

Ratatosk

Administrator
Staff member
Keep pushing. A friend of mine's daughter never COULD get a diagnosis. Digestive issues as an infant, frequent infections, supposed asthma, clubbing at age 5. Fortunately, they found a clinic who treated her as if she had CF. As my husband always reminds me when I complain about the local medical care -- "You are the customer. You are paying for a service". Good luck.
 

anonymous

New member
Candace,
My ds does not have cf (or very unlikely, his sweat test is neg, his genetic screen thru genzyme was neg but he has many symptoms. 8 yrs old, chronic sinusitis since infancy, asthma, allergies, mildly clubbed fingers/toes, huge drop on the growth chart from top to bottom 5-10% although he's now following his own curve, a couple pneumonias, recurring ear infections (now resolved), reflux.) DS's chronic sinusitis is resistant to treatment, both medical and surgical and we've been told he will always require more antibiotics and oral steroids than your average child. Anyway, I just included that for background info for you. Every specialist ds sees thought it was likely he had cf, including the ENT who performed his sinus surgery at the age of 4 and said ds's sinuses look like a kid with cf's. Anyway, our insurance will not pay for AMBRY or QUEST's extended panel. SInce ds's sweat test was neg, I haven't fought it. But, if ds had a borderline sweat test like your ds, I would ABSOLUTELY request/fight for an extended panel. If that comes back neg, there are some other things you can test for that cause similiar symptoms, including primary immune deficiencies and primary ciliary dyskinesia. Also, two years after original allergy testing, you can request he be tested again. DS tested neg at 3 but had multiple allergies at 5. My dd had a few allergies at 2 but at 6 is allergic to almost everything. Just a few thoughts. Since our ds's histories are similiar, I thought I'd share. Good luck in your quest! And, if your dr's refuse to order the Ambry or Quest panel, find a dr who will. We've had to change dr's before and would again if we felt like we weren't getting optimal care. Remember, they work for YOU.
 

candiebar76

New member
Thank you all for your responces. I picked up the summary this morning. They would not give me the whole work-up. It does state that the results do not rule out the possibility that the individual could have one, or even 2 mutation not detected by this test. As I was mistaken and it says they only tested 23. My husband says that is 1/52 (I think that was his number) of the known mutations. He wants me to get the referal to a dr. a childrens even if it is not the CF dr. he says that they are our CF accredited facility so any dr. could re-order the SWCL test and the Ambrey/Quest DNA test.

<div class="FTQUOTE"><begin quote>But, if ds had a borderline sweat test like your ds, I would ABSOLUTELY request/fight for an extended panel. If that comes back neg, there are some other things you can test for that cause similiar symptoms, including primary immune deficiencies and primary ciliary dyskinesia. Also, two years after original allergy testing, you can request he be tested again. DS tested neg at 3 but had multiple allergies at 5.</end quote></div>

They made us wait untill Max was almost 6 yrs for the allergies because they said often times they don't show up on yonger children even if they are allergic to things. They already test for immunoglobulin deficiencies and the results were negetive. Our ENT wants him refered to an endocrinologist at the Denver Childrens Hospital, so that will be a start in the right direction.. I hope! BTW Amy we live in the US.
Candace
 

anonymous

New member
Candace, did they do a full immune panel work up? If so, it should have included multiple blood draws done over a few months time, and an immunization to check for titres. If they didn't do at least 3 seperate blood draws over a few months plus an immunization, you can't rule out immune problems. Also, on the allergy testing, even older children and adult's allergies change over time so retesting at 8 if he's still having a problem and there's family history is prudent. My 8 year old will be tested again at 10. Our genzyme test 3 years ago also clearly stated that it does not rule out the possibility of cf and if symptoms were still suspicious of cf, to have the Ambry test (at that time quest didn't have the extended panel.) Also, it is common procedure to repeat sweat tests if the child's results fall in the borderline range or are positive. Also, do a search on primary ciliary dyskinesia, it has a lot of similiar characteristics to cf lung/sinus wise. One last comment, on the "allergic shiners", I'm assuming you're referring to the dark circles underneath and the puffiness under the eyes that's worse in the am. While they are very often signs of allergies, it also is a common symptom for kids with chronic sinusitis, regardless of whether they have allergies. DS has had those since infancy (around 6 months when his sinus problems started). You can even see them in his baby pictures. Also, my dd who is highly allergic has the dark circles/"allergic shiners"; however, she only ever has the puffiness when she has a sinus infection. The puffiness is usually worst in the am. One last thing, on the allergy testing, did they do a full adult panel? When ds was tested at 3, they tested for 40 items by skin prick and 9 by inter-dermal testing but when they repeated at 5, they did the adult panel of 64 and all but a couple of his allergies were in the adult panel, not the kid panel. Our allergist also doesn't skin test young children unless it's warranted (out of control asthma, chronic sinusitis, etc.) Ok, actually I have one last comment. Does he have reflux? Has he ever been tested for it? It can cause chronic sinusitis, worsen asthma, and cause asthma-type symptoms in a non-asthmatic. I'm only throwing all of this out there so you have other areas to persue in the event you do not receive a cf diagnosis. I would persue the extended genetic panel and a repeat sweat test at a cf center ASAP - just wanted to throw some other things out there so you have a direction to follow if (hopefully) CF is ruled out.
Good luck!
 

fugikitten2087

New member
THis is going to sound weird. I KNOW I HAVE CF...so do my DR.'s but my DNA doesnt seem to want to tell them that.. I have gotten 12 sweat tests.. only 5 postives we know I HAVE CF because of my bacteria and the way my body acts.. but some times it hides it it's a rare enough mutation.
 

anonymous

New member
And you've also heard on this site that several people have had normal sweat tests, yet blood tests show CF.

DH's cousin just about choked at our CF walk last spring when I said DS passed his sweat test -- normal results, not borderline; however, that blood tests showed CF. DH's cousin said her daughter has asthma-like symptoms and she's asked her Mom -- "are you sure I don't have CF". "Of course you don't, you were tested for it" -- DH's cousin said they only ever did the sweat test on her daughter because that was considered the "gold standard" at the time. Liza
 

candiebar76

New member
<div class="FTQUOTE"><begin quote>on the "allergic shiners", I'm assuming you're referring to the dark circles underneath and the puffiness under the eyes that's worse in the am. While they are very often signs of allergies, it also is a common symptom for kids with chronic sinusitis, regardless of whether they have allergies. DS has had those since infancy (around 6 months when his sinus problems started).</end quote></div>

Max has had them since birth you can see them in his very first pictures. I had always chaulked it up to the structure of his face. He doesn't have dark circles just the puffy spots that are hard to the touch. On one side you can feel a tube like thing when you run your fingers over it. His vary in size from day to day not so much morning to night.

they did the adult panel of 64 and all but a couple of his allergies were in the adult panel, not the kid panel. Our allergist also doesn't skin test young children unless it's warranted (out of control asthma, chronic sinusitis, etc.)

He did the adult panel, I believe, it incuding pets, pollens, molds, weeds, food, all in the skin test form.

<div class="FTQUOTE"><begin quote>Does he have reflux? Has he ever been tested for it? It can cause chronic sinusitis, worsen asthma, and cause asthma-type symptoms in a non-asthmatic.</end quote></div>

It is strange that you should mention this. No he has never been tested, but when they first put him on nebs @7 mo. the Dr. mentioned asthma but did not want to put that yet and treated him for bronchitis for 2 yrs. he had this treatment off and on.

<div class="FTQUOTE"><begin quote>If so, it should have included multiple blood draws done over a few months time, and an immunization to check for titres. If they didn't do at least 3 seperate blood draws over a few months plus an immunization, you can't rule out immune problems. </end quote></div>

They only did on several tubes & did the immunization one to check for titres, tetnus, dephiria, etc. I will have to ask my dr. why they feel that only 1 test was sufficient as I am curious. Although, this seems to be the nature of this specialist. The specialist he refered us to seems to be a little more careful and out right said.. "The hospital here, and me personally are probably not where you need to be Maxwell is a special case that I think needs to go to the Children's hospital for the best care and outcome." I respect a dr. that shows that type of perfessionalism and will admit when he is over his head.

<div class="FTQUOTE"><begin quote>Also, it is common procedure to repeat sweat tests if the child's results fall in the borderline range or are positive. Also, do a search on primary ciliary dyskinesia, it has a lot of similiar characteristics to cf lung/sinus wise.</end quote></div>

I will look into this primary ciliary dyskinesia. We want the test repeated, but we want it to be done at a CF acreddited center so we must wait for our ENT (dr that wants us at children's) to get our PCP to refer us.

Candace
 

anonymous

New member
Liza, the scary thing is many, many, many accredited centers STILL consider it the "gold standard". The accredited cf center in our city (satellite clinic of the main children's hospital/cf clinic in our state), consider it the gold standard. They will repeat countless sweat tests long before they'll consider genetic testing in suspect cases.
 

anonymous

New member
Candace,
I agree. My ds sees 3 specialists. A pulmo (who is with an accredited cf clinic and treats both cf and asthma patients as most do), a pedi allergist, and an ENT. We've actually seen 2 different pulmos with the same clinic and received a second opinion from another ENT in a different city. The pulmos and allergist are both satellite clinics, the allergist in a city a few hours southeast of us and the pulmos in a city a few hours north of us, ENT is in our city, 2nd opinion ENT is in allergist's city. Was your sweat test performed at a lab accredited by the CFF? If not, there's no telling where his true numbers fall. As far as the immune panel, if his first set of #s all came up normal, and he had titres for all of his previous immunizations, they may not have felt it warranted further testing. Our ds did not develop titres to the prevnar vaccine hence reimmunizing with pneumovax and retesting. Also, because medical and surgical intervention failed on ds, our allergist who also has training in immunology, tested ds further. My crude understanding is that they did a total #s general test for levels on IgA, IgG, IgE, IgM, response to titres, reimmunized, 2nd response to titres, checked T&B cells, checked subclass levels, and some other test that I'm not sure what it was but was immune related? I'd definitely also consider reflux. Do a google search on chronic sinusitis, GERD, and pediatric and you should come up with a number of good articles. Even though my kid is considered "neg" I tend to find myself wandering back here every so often. Partly because it can't totally be ruled out and partly because I had a close friend who lost his spouse to cf a few years back.
 

Alyssa

New member
<b>Liza</b> ~ so I'm curious is that girl going to get a blood test now that she knows your son has a negative sweat test?

<b>
fugikitten</b> ~ have you done the nasal potential difference test? Our doctor mentioned that it can help "prove" CF if both the sweat test and DNA test cannot.
 

julie

New member
Hey Candace,

I don't have anything more to add than what everyone has already said. Just wanted to let you know I'm thinking about you and hope that you guys can get in soon to get an extended panel CF mutation test.

I personally had my test done through Ambry and was very happy with them. They are a newer company, and sometimes insurance becomes an issue. I also know that a few members of this board have used Quest and have been very happy as well.

Definately push for that extended test though!

Keep us posted. I'll be thinking about you and your family!
 

Brad

New member
Hello....

I saw it written that someone with is getting Neg
results with sweat tests, I have seen that before,

I can't count how many I have had over the years
the last ( One's ) were about 7 years ago....

I had 5 ! why 5 you ask, because my right arm always
gets a Neg. and my Left Always gets a Pos reading....
I kept trying to tell these new Docs, that for me , it was normal....
But Noooooooooooo do they listen, now the TV turns on
when I walk into a room,,, J/K

You can have a Neg result and still have Cf.
 
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