Advice for my baby...

[CarrieBear]

Hi. I am a mother of 3 beautiful children. Jesse (7 1/2) Nathan (almost 2) and Emily (5months). I have a question for anybody who is interested. At about 2 months of age my youngest (Emily) came down with a severe case of RSV. Really bad coughing fits, turning blue, difficulty breathing. I was able to avoid a trip to the hospital by staying in constant contact with my doctor and having access to a nebulizer. She slowly improved but the coughing has still not gone away. I attributed it to mild asthma which her older brother has. Now she is 5 months old and lately I have been worrying about her because she has been just ravenously hungry. I can no longer nurse her because I cant keep up with her... She wants a bottle just about every 2- 2 1/2 hours. It is like she is starving. At first I assumed this was just your typical growth spurt needing extra feedings. But this has been going on for weeks now. Somedays I cannot put her down between eating and being fussy and wanting to be held like all day. Also the chronic coughing (it sound like she is hacking up a lung) and wheezing has been concerning me. Last week I began to research the internet to see what could possibly be going on with her. I looked up cystic fibrosis and to my surprise it seemed to summarize my daughters issues. She has been extremely collicky from birth, weird stools, coughing, wheezing, she even seems to taste salty to me too. I took her to her doctor and asked about testing for cf. She thinks that would be good to do but because my daughter is a good healthy weight she is not all that concerned about it. So I have scheduled an appointment for testing and she is prescribed with breathing treatments on the nebulizer 2x a day for at least a month and hypeallergenic formulas in case her colic and gas is related to food allergies. There is someone in my family on my moms side who had cf, but I don't know about my husband's side. I am trying not to jump to conclusions about my daughter, but it just all seems to fit except for the fact that she is eating alot and she is a healthy weight. I was wondering if anyone else had the same thing with their child. I talked to one doctor who I scheduled her testing with who said that they have trouble getting cf babies to eat. So now I am wondering if I should wait on testing. Anyways, I would love to hear from you what your experience has been with this,
Thanks,

Carrie

 

[miesl]

Get tested. You have a family history of CF and your daughter has symptoms. Find a center on the CFF.org website and get your daughter tested (be sure to get it done at a CF center)!

 

[anonymous]

I'll second the opinion to get your child tested. It's easy to do a sweat test. If that's inconclusive go for the blood/genetic test.

 

[anonymous]

Hi Carrie.

I applaud you for taking the initiative and seeking testing. What is the harm in finding out if your daughter's symptoms are from cf? The results take several weeks to get back so don't wait. Have her take the Ambry CF genetic blood test. It checks for 1300 cf mutations. If the results are negative...terrific... but if they are positive then you will be able to help her receive early treatment which will keep her healthy. I grew up with a constant cough but my weight and appetite was and still is excellent. There was no one on either side of the family with cf but here I am as well as my brother, both of us diagnosed later in life with CF. I was tested at 18 but my sweat test was within the normal range and I looked very healthy so I was diagnosed with just bronchiectasis. We wish early accurate testing was available for us but we can't look back only forward. There is so much more knowledge and wonderful treatments available now. I wish the best to Emily and you. Let us know how Emily progresses. She is in my prayers.

<img src="i/expressions/heart.gif" border="0"> Janet 47 CF

 

[anonymous]

Carrie,
Yes, you should definately have her tested. My oldest daughter (who is now 8) was dx at 14 months. She too had many symptoms that you have mentioned. Although her pediatrician wasn't smart enough to say lets test her (my nephew also has cf, and they shared the same pediatrician-you would think it would be a no brainer!) until she suffered a rectal prolapse. She always stayed ok in her weight gain, unitl at about 1 year. When she was dx at 14 months, she only weighed 18 pounds. She was even hospitalized at about 6 weeks because she just refused to eat. Every one asked about family history, and CF was mentioned every time, but no one said let's rule it out. I think she was trying to tell us that something was wrong. She suffered what I considered colic symptoms. Bad tummy aches and gas that got worst when she started eating more solids as she got older. Looking back, she was such an un-happy baby. It makes me sad that we suffered through so much crying the first year that could had been prevented with a little test. After enzymes were started, she was fine. She did not have any problems lung wise until last year, at age 7. My younger daughter also has CF, but was tested at birth, and dx at about 1 month. (it took two genetic test to confirm because the first test only tested for the most common 15 genes and one of the girls genes that they carry is caught on that test. It is caught on one that checks for the most common 25 genes, but the sweat test was positive on the first test) Obviously I knew that I could carry the CF gene because of my nephew. But my husband has no known cases of CF on his side. Boy was I unpleasantly surprised!
Good luck and wish you the best. If it turns out positive, you have already found a great place to come to to ask questions and for support!

 

[JazzysMom]

Definitely have her tested. If nothing else you rule it out. If it comes back positive then you get her on the right treatment plan! Let us know either way, ok?!

 

[julie]

Carrie, I agree with what everyone else has said about getting her tested. You have done the right thing by requesting a test.

Are they doing a sweat test on her or a blood test? Sweat test is faster and usually the first test they do, but blood tests are more accurate. Not all CFers exhibit excess sodium levels, therefore, some completely pass the test with flying colors-yet a blood test reveals they carry 2 CF mutatons and indeed do have CF. Just wanted to give you that info in case you ever need it. also, if it is a sweat test, make sure it is being done at an accredite CF center. You can find one in your area by going to <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org">www.cff.org</a>

Janet recommended Ambry Genetics for a blood test. While they use to be the top dog in CF mutations, now QUEST DIAGNOSTICS is the test of choice for many physicians AND more importantly, insurance companies (if not covered, a blood test can run you 2-4k). Additionally, some people on this website have had tests done with Ambry and they have only identified 1 mutation, but these people have already been diagnosed with CF via a sweat test. They went on to have the testing done with Quest Diagnositcs and quest found the mutation.

Keep us posted on the results and come back with more questions as they arise!!

Welcome to the site.

 

[anonymous]

I had the same problem with my son Zach. He was eating all the time as an infant and never lost weight he always looked very healthy. He started coughing when he was about 2yrs old and he always had greasy looking stools since he was born but the Dr. dept saying he had bronchitis and finally he was diagnosed at age 3yrs. I never had a problem with him eating. Infact his Dr. was concerned because he was slightly overweight as an infant. He is 9yrs old now but still looks very healthy. I nor his father knows of anyone in our family background that has ever had cf but it could have been years ago before they knew what it was. I would have her tested for sure but maybe your daughter will not have it. I f you have any more questions i would be glad to answer if i can.

 

[dyza]

not all cfers have digestive problems, our ds eats like a horse and his weight gain is normal, he dosn't have pancreatic problems. He was dx at 20 days of age, there were no signs or symtoms with ds, we have birth screening for CF, amongst other things, here in Scotland. I guess I am saying is to push for the test, and don't give up. good luck

 

[izemmom]

Please get her tested. Do not base any descision on a doctor who makes a sweeping generalization like "we have trouble getting cf babies to eat." A medical professional should know that cf is a complicated disease that manifiestes itself differently in every patient. I can assure you that my Emily (Almost 6 months, w/cf) has little trouble eating, but can not gain weight easily. You have every reason to be suspicious, and like everyone else has said, you lose nothing in having her tested. Push for it, and ask your doctor to request that the test results be sent asap. Our neonatal staff was able to get the DNA and genotype results for us in about a week. Best of luck to you. I'll be watching the boards here to find out the outcome for your Emily. I'm sure she's as beautiful and cherished as mine. Feel free to private message me if you just want to chat about 5 month old babies and cf-like symptoms.

 

[anonymous]

Question for Julie please...

Are there any web links that I could read that show that Quest Diagnostics is better than Ambry (which screens for 1300 mutations)? I was told Ambry was the best screening test (insurance did cover it). I would like to read more on this and be up to date on the latest.

Thank you Julie.

Janet 47 CF

 

[julie]

here's what I've found....

<a target=_blank class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/topics/cf/cf.html">http://www.questdiagnostics.com/hcp/topics/cf/cf.html</a>

I also posted this a while back, I too had my test done through Ambry genetics, but after talking to Mark's doctors recently, they would recommend quest as well for the same reasons their medical director did. (Quest's medical director)


<div class="FTQUOTE"><begin quote>There have been a lot of families on this site, including myself, who have talked about/recommended or utilized AMBRY GENETICS for Cystic Fibrosis carrier or diagnostic testing. I recently learned that QUEST DIAGNOSTICS also has a CF mutation carrier/diagnostic test available. I have recommended amybr genetics on my website www.cysticfibrosismaleinfertility.com, but I am about to update that information.

I know some people have had difficulties getting insurance to cover AMBRY GENETICS' test, therefore I thought some families/individuals might be interested in this information. I specifically inquired with QUEST DIAGNOSTICS about how their test was comprable/different to AMBRY GENETICS test. The director of the gentic's department answered my question below:


<i>The Medical Director of the Genetic Testing Center at Quest Diagnostics
Nichols Institute was able to respond back to your inquiry regarding testing for
Cystic Fibrosis Carrier/Diagnostic testing.

He responded back by stating "the ambry test is called gene scanning and is a
crude way of scanning the entire gene for the presence of any mutation. Once a
potential fragment has been determined to have a potential mutation, that
fragment is sequenced. Ambry calls their test a "sequence based test" but it is
not a DNA sequencing test."

"Quest Diagnostics offers CF Complete which is a complete sequencing of the
entire CF gene. Coupled with our new deletion CF test, we would detect >99% of
all CF mutations."

Thank you once again for contacting Quest Diagnostics.

Sincerely,
Iris Underwood
Branch Operations Manager
Quest Diagnostics San Diego
Tel: 619-686-3053
Fax: 619-686-3362
e-mail: Iris.J.Underwood@questdiagnostics.com</i>


I have had my test done through AMBRY GENETICS, but if I had it to do over again, I would have gone with QUEST DIAGNOSTICS. My doctor and the laboratory at my hospital knows who/what they are and how my insurance will work with them. It took me a few months to fight to get coverage and approval for the AMBRY GENETICS test. If there are others in the same boat, who can't afford to wait as I did (mine was just a carrier test on myself, not a CF diagnostic test), this might prove to be a good route. </end quote></div>

Also, Amy on this board (or one of the Amy's-can't keep track anymore) had some trouble with Ambry. To be honest, I can't remember if she couldn't get the insurance to cover it, or if she DID have the test and Ambry couldn't find the mutation. Anywyas, somehow she ended up at Quest and they found both her mutations.

Some insurance companies will cover a test with Ambry and some won't. Many will cover a test with Quest. They have been aroudn for decades, not sure about Ambry though.

Hope this somewhat answers the question.

 

[julie]

<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=5497&highlight_key=y">http://forums.cysticfibrosis.c...d=5497&highlight_key=y</a>Just found Amy's post...

 

[anonymous]

Thank you Julie for taking the time to answer my question. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Janet 47 CF

 

[CarrieBear]

Hi, thanks for all the quick replies. I will definately keep her apt. It is on May 9th which seems like a long time to wait. But I will let you know when I get the results.
Thanks,
Carrie

 

[anonymous]

This post is for anyone interested in the Ambry CF genetic test. I decided to send an email to the company to ask them about the quality of their test and the insurance issue of coverage after I read Julie's post. I was concerned because I have a relative waiting to get test results back from Ambry. They quickly responded and so I am posting the reply for your own information and if you have further questions or concerns please address them to Steve Keiles, the
Director of Genetic Services at Ambry Genetics. His contact information is below.

Janet,

Thank you for your inquiry and I appreciate the opportunity to set the
record straight. Our test is a complete sequence analysis of the CFTR
gene and we can also detect gross deletions and duplications which are
not detectable through any sequencing type test.

We use a combination of gene scanning and sequencing to identify all
mutations. Our test is the same accuracy as a direct sequencing test,
it is just a different technique that is used. Our scanning technique
and our experience allows us to process results more quickly as well.
We also quote the same 99% detection rate for our CF Amplified test.

Regarding insurance coverage: we have contracts with many insurance
companies and are "in network" for many other plans as well. We are
always working to increase our contracts and networks with insurance
companies. There are certainly health plans (especially some HMO's)
where they may have a contract with another lab.

However we have a service where we can provide insurance preverification
for patients or their doctors office.

Some other information that I thought you might find interesting. Ambry
was the first comprehensive CF test on the market. We have not only
been doing this longer than others we have also processed more CF full
sequence analysis samples than all other labs combined. We have an
extremely large database of mutations and clinical information and it is
not unusual for us to have more information in our database than what is
available in the current literature. And I have received many calls
from people looking for information about mutations we have seen many
times, and the lab that identified them could not provide any additional
information.

At Ambry we are more than just a testing facility. We take great pride
in advancing the field of medicine while helping physician, nurses,
genetic counselors, patients and their families manage their medical and
reproductive decisions. We are always available to answer any questions
that anyone may have regarding the testing process or any results they
may have questions about.

Thanks again for the opportunity and please let me know if there is
anything else I can do. You have my permission to share my email with other individuals who may have questions. You can also share my contact information if someone has questions they would like to direct to me.

Thanks,

Steve

Steven Keiles, MS
Director of Genetic Services
Ambry Genetics
100 Columbia, suite 200
Aliso Viejo, California 92656
Main # 949-900-5500
Fax # 949-900-5501
Direct # 949-900-5515
skeiles@ambrygen.com
www.ambrygen.com

-----------------------------------------
Janet 47 CF

 

[anonymous]

There's big money in testing - that's why Ambry is going to say their test is best and Quest is going to say theirs is better. Seems to me if we want the truth we need to get it from someone other than Ambry or Quest or an insurance company who is predisposed to one or the other because of having a contract with them to do testing. For example, here's an excerpt from an article written by a pathology PhD in "Archives of Pathology and Laboratory Medicine":

" .... the sensitivity for mutation detection, 98% to 99%, is not reported to be significantly different between full gene sequencing and some gene scanning techniques with selective sequencing. Both approaches have the same biological issues, such as result interpretation, failure to detect gross gene abnormalities, and the occasional (although rare) need for linkage analysis...."

Combine this opinion with the Ambry quote that says their test picks up gross deletions and it makes me think perhaps the edge goes to Ambry....

 

[imondeck]

I have had some questions lately for Steven at Ambry and he emails right back with the answers. Very helpful!

 

[julie]

Yes, I've been recieving emails from Ambry since yesterday as well, but not because I emailed them <img src="i/expressions/face-icon-small-sad.gif" border="0">. I don't mind I suppose because the gentleman is just trying to figure out who it was that coudn't get their testing done at Ambry because of insurance denial and someone else who had ambry not find their mutations but quest did.

I'm researching it for the guy, so they can better their test but I don't think it's appropriate to guide anyone to this site (as was done) and talk about WHO said WHAT because now I'm recieving unsolicited emails....I don't really appreciate that.

I DID have my test done at Ambry, but I didn't know Quest had a competative test at the time... If I had known... working in the medical field myself- I would have choosen quest without a dobut. I think their customer service is better (from experience), I think their billing dept. is better (from experience).

The only thing that's hard to decipher here is who really is better, because as someone else said... each company is tooting their own horn, and I'd be concerned if they weren't. Nonetheless, I've heard of more successes with Quest, less insurance problems/denials with Quest, better customer satisfaction with Quest... but ultimately, go with who makes you comfortable.

 

[imondeck]

Julie, I am the one who directed Steven here. You had stated several times that Quest was better. Having my son's blood sent to Ambry and being a concerned parent, I wanted to know what was better about Quest and had asked Steven at Ambry about the discrepensies (sp) in the two tests. He had asked me what in particular that you were stating was better - It was easier for me to just show him the thread.

Yep, it is a good thing to let everyone (both sides) toot their horn and let people have an informed decision on who to go to for their tests.....

I am still undecided what to do about further testing...