Welcome Ambry Genetics

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sweetwhite30

New member
ok steve i have one more qestion how come the c.f doctor told me his c.f is severe but they never asked me if they could run these type of tests on him. Are they just allowed to run them? this is back when he was about 2 months old when we were told this. he is 4 yrs old now and has alot of weight and pancreatic issues but not lung. so if this is what they call severe i am grateful! I have been scared to ask these questions but he has changed from that c.f center in florida to one in birmingham alabama to this one in wilmington,delaware where we currently reside and have had the best health for him.How do they tell how severe c.f is anyway?
 
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StevenKeiles

New member
They probably based the "severe" label on the type of mutations. However, even with severe mutations there is great variability and some patients with the same mutations may have much more mild disease than others with the same "severe" mutations.

You can never really predict exactly how someone will do based on their mutations, you can only have a range they will probably fall into.

steve
 
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kpc

New member
I have a 7 month little boy. Since day 1 he would have coughing fits. During this time it would sound very flemmy and he would gasp for air. This would happen throughout the day. He also would gasp for air without coughing. His pedi. says he has reflux. Put him on zantac and sent him to a GI. ( Over the past 6 months it has done nothing, he also has been on prylocek) His GI says he doesn't have reflux. She sent him to a PULM. Who in turn sent him to an ENT. The ENT checked for inmature cords. They were fine. He wanted to do scope when he had his hernias(SP) fixed. Also his PULM. did a scope that day. The ENT came back fine , no signes of reflux. His PULM. didn't go that well. They found alot of swelling, inflamation,an abnormal amout of secreations, blood, and food in his lungs. He stayed in the hospital over night and the next afternoon he had a sweat test. They only got enough sweat off one arm. That number was 12. As the resident was telling us the results and we were asking our final questions, she got a page. When she came back from answering it we were told he had broncitis(SP) and they needed to do another sweat test (only one arm sweat enough). They doctors put him on agmentium. He was on that for about 1 week with very little change. Also in this time he was put in an inhaler. (Being treated like asmah(SP)) That following Monday I reveived a call thay he was DIRECTLY exposed to Whooping cough. His anti. was changed to Zysthromax, and cont. the inhaler. All coughing stopped! He has been off the anti. for 4 days and the cough and gasping is back!!!!!!!!!! We went to his Gi today,she still says it's not reflux. (HE WEIGHED IN AT 18.13pds AND 27IN)

In the next few weeks we will be doing another sweat test and a sleep study with a GI probe. (PULM. wants to try to get the coughing and gasp on tape)

When I was preg. with my first child I had the prenatel screening. That test came out neg. I believe both my kids also were tested at birth. (Massachusetts) I never heard anything so I asume it was neg.

I guess what I'm trying to say is what kind of questions should I be asking these doctors. And should we prepare our selves? Deep down I KNOW something is wrong with my son.

Katie
 
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mom4holly

New member
Ambry Guy,

Hi, I am new to this site but I have learned so much and find that so many of you have so much knowledge. First thing is that my dr has req my insurance to cover a genetic test for CF and my insurance has denied the request stating that they do not cover genetic testing NO EXCEPTIONS---this has frustrated me beyond belief as my daughter is not a good sweater and this is the only way to get a yes or no answer and I can not afford the test.

My question is this,does anyone know of any way to get assistance with these kinds of tests. I am over the income threshold to qualify for state assistance so they will not help me. Do any of the company that do the test offer financial assistance or maybe a financial payoff program to have the test done?

Any assistance would be great, and please dont be mistaken---my dr is pushing hard but my insurance has denied 2 times already and I have another infant that I am also trying to raise while trying to pay for the meds my dr has put her on for now that my insurance will not give me for the lower copay until we have a CF diagnosis for sure and I am a single mother. Thank you for listening!!!
 
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StevenKeiles

New member
Katie,

I am not really sure what to tell you. It seems like often doctors need to run a lot of different tests to find out the possible cause. There is usually not just one test that answers all the questions.

I would continue doing what you are doing, and just ask the doctors to clarify anything that you do not understand.

Best of luck,

Holly's Mom write to me privately.

Steve
 
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aprilbaby2b4

New member
Hi,
I'm new to this forum. My son is currently being worked up for cystic fibrosis and blood was sent to ambry for testing after two abnormal sweat tests. I found out today that they have identified one gene but I don't know what gene. I think the drs are trying to tell me as little as they can right now and I'm so ready for an answer and an end to all this. How long does it take for the additional testing for the second unidentified gene to come back? He also has many other things going on which is why we started the testing for CF.

Kim
Connor's mom
 
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StevenKeiles

New member
Kim Connor's Mom,

Email me privately to let me know the name and birthdate of your son and I will look it up and let you know what I can.

Steve
 
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grsswspr

New member
Hi Steve,
I am new to the science of genetics and have a few quick question.
Is it possible that one of the genes that someone with cf has could be a more dominant gene than the other? If so, can this be tested for? Isn't it true that some genes have different symtoms associated with them?
Thanks, Bruce
 
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sweetwhite30

New member
steve i forgot to ask you the last time as well i have a 7 yr old as well as the 4 yr old with c.f...but the 7 yr old has one whole dd508 gene and only half of a second dd508 and why do they test him every year to see if it is going to start growing what are they afraid of??? I thought once dna is made thats it it would not grow again ...
 
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StevenKeiles

New member
Sheila's Dad,

Yes some mutations are associated with more severe disease than others. However, there is a lot of variability even within people with the same mutations, therefore it can be very difficult to predict the symptoms based on the mutations.

Sweetwhite,

Yes you are correct, your dna results do not change. I am not sure exactly what they told you because it is not possible to have a half of deltaF508 mutation. Maybe he has only one mutation and they are trying to find the other one. I would suggest getting a better explanation from the clinic. Let me know if I can help if you find out more.

Steve
 
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sweetwhite30

New member
oh the explanation i was given was because his dna was inconclusive and his sweat was 59! what ever that means???? explain please?
 
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hhildema

New member
Steve,

Just received "normal" test results for our daughter's sweat test though she has many of the common symptoms of cystic fibrosis and I have a family history of the disease. I still have concerns and would like to know for certain whether she has cf or is a carrier.

Does Ambry maintain statistics on how many patients have normal sweat tests but are found to have CF through genetic testing? If so, what are those percentages?

Anyone else out there with this experience?
 
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StevenKeiles

New member
Sweetwhite,

If all your kids have the same dad, and you and he both carry the deltaF508, then if your kids only have one deltaF508 they would not be affected. However, if one of your kids has one deltaF508 and a sweat of 59, they could be related.

As many of you know, CF is very complex and there are other genes or modifiers that interact with the CF gene. Therefore, some carriers of one mutation may have mild CF like symptoms related to the one mutation.

That would be my best guess.

Hhildema,

It is tough for us know exactly because we do not receive sweat test results on all patients. However, like above, many patients with normal or borderline sweats will have one mutation. Some will have two, but when a sweat is very normal, it is very unlikely for us to find two mutations. When the sweats are very high, we almost always find two mutations,

Steve
 
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hhildema

New member
Steve,

Thank you for the information. I do not know the numbers from the sweat test results, just that they were "normal." I have requested a copy of the results so should know soon. What kind of "borderline" or near borderline results would indicate that genetic testing may be helpful?

I am at more of a loss now as to what my daughter may have going on d/t her chronic respiratory infections and abnormal stools.
 
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sweetwhite30

New member
steve they both have the same dad and my child does demostrate lung issues but is not c.f and the other one who is c.f has no lung issues and only mal absorption issues...how weird is that....lol and i only demostrated 2 c.f related issues i got pnemonia in the bottom of my lung which they accused me of having aids whick i was a not even active in that sort of manner and when i was 18 months old and was in and out of the hospital til i was 3 and a half, my mom stated that was my second home i went there once a month , and my 7 yr old has lung issues asthma and gets sick easily and gets everything under the sun,i am figuring that might be why they test him yearly....but who knows right..we are not in the doctors brains..lol
 
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StevenKeiles

New member
hhildema,

Any type of borderline test could indicate an atypical form of CF. However, it is also possible that is has nothing to do with CF.

sweetwhite,

I would suggest that you just ask why they are doing what they are doing, they should be more than happy to explain.

Steve
 
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cfmomma

New member
Steve,
My six year old son has CF, he was diagnosed at 18 months after two minor bouts of pneumonia. He has only been in the hospital once and most of his problems are digestive related. I am pregnant again but I don't want an amnio or CVS, because of the risk. My son's CF clinic here in Dallas has already contacted my OB/GYN's office and they now have the cord blood kit ready and prepared for when I go into labor. We did my son's testing through Ambry and he was found to have the double DeltaF508.

My question is how long should the results take to get if we already know my first son's mutation? I am praying that the results are negative and my OB is doing frequent ultrasounds to rule out the possibility of meconium ileus. I hear sweat tests can be inaccurate in newborns so I definitly want genetic testing done. When the results are in do you contact me, the CF clinic, the OB, or pediatrician?
I am already getting worked up thinking about the "dreaded" phone call! Thank you, Sheli
 
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StevenKeiles

New member
Sheli,

If your first son has two deltaF508 mutations and this baby is with the same dad, then all we need to test for is the deltaF508. Make sure the order the deltaF508 only and we can have results in less than a week.

Steve
 
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cfmomma

New member
Steve, yes it's the same father. Do we tell the doctor that retrieves the cord blood or do we tell Ambry to only test for his known mutation?
 
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