It appears you have not yet Signed Up with our community. To Sign Up for free, please click here....



Cystic Fibrosis Message Board
Post New Thread   Closed Thread
LinkBack Thread Tools
Old 10-15-2004, 12:55 PM   #1
Senior Member
(female)
 
Join Date: Oct 2004
Location: Bullard, TX
Posts: 151
BYHOPE1113 HB User
Post Waiting on Ambry Genetic Testing Results

Well, I'm finding out I'm not alone in having a child with my daughter's symptons, I just haven't found out exactly what is going on yet, but we are working on it. Karly (she'll be two in November) has been in the hospital 8 times in less than a year and they decided to sent her lab off to Ambry Genetics last week. We have already ruled out some kind of problem with the Cilia in her body, they did a biopsy and the test came back normal. They have diagnosed her with asthma obviously but feel like they are missing something. My pediatrician and pediatric pulmonary doctor say she shouldn't be having this much trouble with just her asthma. She constantly has pneumonia, sinus infections or ear infections. They put tubes in both ears in April and that helped for a couple of months with the ear problems but it didn't stop them.

She had a sweat test and the results came back normal but the pulmonary specialists says we needed to do the genetics testing for CF and for M470V. I understand Ambry is the best test for genetics. She seems to be growing at a normal rate. She's smaller than her sister was at her age but in the normal range of height and weight of other kids her age.

If anyone has any advice or tips on understanding the test results when I get them back I would appreciate any help I can get.

Last edited by BYHOPE1113; 10-15-2004 at 12:56 PM.

 
Sponsors Lightbulb
   
Old 10-15-2004, 02:53 PM   #2
Newbie
 
Join Date: Oct 2004
Posts: 1
tjp1014 HB User
Re: Waiting on Ambry Genetic Testing Results

I have a friend whose daughter had symptoms just like your daughter's. After a long time, the docs decided to do a blood test to check her immune system. It turned out that she did not have a specific immunoglobulin. Every year she receives the missing immunoglobulin (via injection, I think), and she has had no recurring infections.

 
Sponsors Lightbulb
   
Old 10-29-2004, 09:59 AM   #3
Junior Member
 
Join Date: May 2004
Posts: 13
CatherineinSC HB User
Re: Waiting on Ambry Genetic Testing Results

I am so sorry to hear how much your daughter is sick. I have two girls with CF and sometimes it is difficult to bear how sick they are. I just try to remain positive and love them - and enjoy them. I hope you share your AMBry results. We have the M470V and I am sure it contributes! I am a M470V/5T and a M470V/7T. I have definite, although fairly mild, CF symptoms. I am seen in the CF clinic. (The girls go in the morning; I return for afternoon clinic. What a day that ends up being!) The doctors may say that it is not CF if it is M470V. The research is not there yet. However, the treatment is separate from the diagnosis. Fight if you have to for appropriate treatment. Good luck and God Bless you and your family.
Quote:
Originally Posted by BYHOPE1113
Well, I'm finding out I'm not alone in having a child with my daughter's symptons, I just haven't found out exactly what is going on yet, but we are working on it. Karly (she'll be two in November) has been in the hospital 8 times in less than a year and they decided to sent her lab off to Ambry Genetics last week. We have already ruled out some kind of problem with the Cilia in her body, they did a biopsy and the test came back normal. They have diagnosed her with asthma obviously but feel like they are missing something. My pediatrician and pediatric pulmonary doctor say she shouldn't be having this much trouble with just her asthma. She constantly has pneumonia, sinus infections or ear infections. They put tubes in both ears in April and that helped for a couple of months with the ear problems but it didn't stop them.

She had a sweat test and the results came back normal but the pulmonary specialists says we needed to do the genetics testing for CF and for M470V. I understand Ambry is the best test for genetics. She seems to be growing at a normal rate. She's smaller than her sister was at her age but in the normal range of height and weight of other kids her age.

If anyone has any advice or tips on understanding the test results when I get them back I would appreciate any help I can get.

 
Old 11-05-2004, 10:22 AM   #4
Senior Member
(female)
 
Join Date: Oct 2004
Location: Bullard, TX
Posts: 151
BYHOPE1113 HB User
Re: Waiting on Ambry Genetic Testing Results

I received the Ambry Results and it showed she does not have CF, however she does have two polymorphisms: M470V/M470V 7T/7T variant. Her Pulmonary doctor is also a CF Specialist and she says although it is true that this could be classified in the future as CF that she doesn't feel like this will happen in Karly's case. She says M470V is a very common polymorphism. According to Ambry M470V is not known to be disease causing at this time. Dr. Hilman says that Karly is more inclined to get sinus infections because of the M470V and in return this triggers her asthma which we have a family history of on her fathers side. She says that the M470V can look like CF and act like CF but it isn't.

The best thing she says we can do to keep Karly's sinus clear is nasal washing. AND THAT'S NOT EASY. Karly is almost two and it is a battle every night to accomplish this.

Dr. Hilman says she has put in a call to a Dr. Cutting from John Hopkins who has done lots of studies on CF and M470V to see what he thinks of the Double M470V results. I got the impression she felt like the fact that Karly had two M470V this might make some difference. She says that these test results are not really a diagnosis but more of an explanation as to why Karly has been in the hospital 8 times in less than a year with asthma attacks triggered by multiple sinus infections, ear infections, and pneumonia's.

I'm learning alot as we go along, but man this genetic stuff is deep!!! I'm trying to focus on what I can do to make it better for Karly and Nasal Washing seems to be the only answer at this time. She's on antibotics for six weeks right now because her second CT Scan showed her sinuses were still clogged after a four week round of antibiotics.

My pediatrician is saying we may have to do sinus surgery. My Pulmonologist says no way unless absolutely necessary because she's only two and her sinuses are not fully developed at this time.

Sorry I'm rambling here but it sure is nice to have someone to talk with that can relate to what we are going through.

Thanks

 
Old 11-05-2004, 10:53 AM   #5
Senior Veteran
(female)
 
Join Date: Nov 2003
Location: Midwest
Posts: 2,006
Ratatosk HB UserRatatosk HB User
Re: Waiting on Ambry Genetic Testing Results

I did an internet search on the M470V and came up with some interesting medical articles -- talks about chronic sinus problems the affect people with this mutation. Might be worth it to do a search on it yourself and see what you come up with.

 
Old 11-05-2004, 11:04 AM   #6
Senior Member
(female)
 
Join Date: Oct 2004
Location: Bullard, TX
Posts: 151
BYHOPE1113 HB User
Re: Waiting on Ambry Genetic Testing Results

I have learned so much from the internet about m470v. I did the searches before I even knew what her results were because I wanted to be prepared when we talked to the doctor. I wanted to know what questions to ask and kind of have an idea about what we were looking at in the future. When I found out her results showed no CF only the M470V, I was relieved. I understand from the Dr. that you can have the M470V with CF or without CF and my daughter has M470V without having CF. I am thankful for that at least.

I find myself questioning everything though because I see from the research and studies there are evidently alot of gray area's out there because studies are still being done. If fact my Dr. said she is trying to get enough money to do a study on children like my daughter who have not been diagnosed with CF but still have some of the symptoms found in CF.

Last edited by BYHOPE1113; 11-05-2004 at 11:05 AM.

 
Old 11-05-2004, 12:40 PM   #7
Senior Veteran
(female)
 
Join Date: Nov 2003
Location: Midwest
Posts: 2,006
Ratatosk HB UserRatatosk HB User
Re: Waiting on Ambry Genetic Testing Results

I wonder if they can treat some of her symptoms as if she had CF, since some of the symptoms are similar -- nebulizers, some of the same drugs... A friend of mine has a teenage daughter who's been tested for everything and all they can figure out is she has an undetermined lung disorder -- symptoms similar to CF --- clubbing of the fingers, digestive issues, decreased lung function...I feel for you 'cuz it'd be nice if you could get a clear concise answer and find out how to proceed or at least how others with the same mutation deal with this. Might be worth it to post on some of the other CF sites, similar to this one to see if there are people with the same mutation and symptoms.

Last edited by Ratatosk; 11-05-2004 at 12:41 PM.

 
Closed Thread

Similar Threads
Thread Thread Starter Board Replies Last Post
AGUS/AGC pap results - questions about ECC & endometrial biopsy angel4747 Cancer: Cervical & Ovarian 38 04-11-2012 12:21 PM
New here - kept in waiting state lilstitch Cancer: Breast 4 04-20-2010 11:27 PM
update on "waiting"... kirsten08 Cystic Fibrosis 2 05-26-2009 09:58 AM
Thyroid Genetic Testing Oleander53 Thyroid Disorders 5 03-29-2009 05:57 PM
Family history/Genetic testing TCrockett Cancer 1 03-22-2008 05:58 PM




Thread Tools

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is Off
HTML code is Off
Trackbacks are Off
Pingbacks are Off
Refbacks are Off




Sign Up Today!

Ask our community of thousands of members your health questions, and learn from others experiences. Join the conversation!

I want my free account

All times are GMT -7. The time now is 04:45 PM.



Site owned and operated by HealthBoards.comô
Terms of Use © 1998-2014 HealthBoards.comô All rights reserved.
Do not copy or redistribute in any form!