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fsuapril

New member
FOR STEVE:

I have a 17 mo old son who has been dx with pancreatic insufficiency, almost severe. He has had the sweat test done and the Dr said negative but i do not know the actual level. He was VERY upset through the whole test process so now i am not sure he even had an effective test. However, his gastro is ordering an Ambry Cf test (the full test kit) and i am to pick it up tomarrow. he has in the past had pnumonea and resp infections. My question is, since currently his main symptom is the pancreas, what are the more common mutations that cause this and are they usually the ones that form the lung problems in the future?

I am trying to mentally prepare myself for the great possibility that he is actually CF positive. I realize you cant tell me 100% anything, just what you've seen as an Ambry staff person, which mutations are more common for the pancreas.
 
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StevenKeiles

New member
April,

Unfortunately it is not possible to discuss the hundreds of mutations that can be identified with pancreatic insufficiency. Even with some of them more well known mutations, not everyone will have the same problems.

I know this is the hard part, but you are just going to have to wait until the results are completed and go from there. If there are mutations identified, we can then talk about the types of problems that are associated with those mutations.

Good luck,

Steve
 
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fsuapril

New member
steve, i sent you a PM to see if you could just tell me if my sons blood samples have arrived... the lab at eh hospital had never used the kit before..or at least the girls drawing the blood. she was hoping she got enough, and the nurse at the Dr's office had never used the kit before so I hope she wrote down all the needed info.

Thanks in advance, April
 
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maryann

New member
Genetics testing

Hi Steven, I tried to post a question on this forum, but it posted in general Family instead, so I'm posting it as a reply.
Can you tell me anything about the 2942insT mutation. My sister had cf with that and DF508. I carry the 2942insT and my husband carries DF508.
 
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oneson

New member
Hi Steve,

I was told you may be able to shed some light on my sons dx. He has df508 and H199Q. I cannot find any info on the h199q gene, I'm told it's rare. Do you have any info on this combo of genes? My son is 8yo, no sx of cf, except recurrent constipation since he was in diapers. no lung issues whatsoever, in fact quite healthy. I'm puzzled with the dx of cf. suspicious of continued inhaled meds w/o physical signs of cf. I appreciate any info/advice you have.
thanks
oneson
 
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StevenKeiles

New member
MaryAnn,

The 2942insT is not that common but we have seen it several times. It is difficult to say exactly since I only have a few cases and the second mutation is different in each case. However, based on the mutation type and if combined with deltaF508 it could fall into the typical CF classification. Of course remember that all CF is variable and not everyone with the same mutations will have the same disease.

One Son,

Please double check the mutation and let me know. I have never seen someone with H199Q, I have only seen H199Y.

Steve
 
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oneson

New member
Steven,
Thanks for your reply. We have ov with Pulmonologist this afternoon, will check that H199Q, and get back to you.
 
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oneson

New member
Hello Steven,
No mistake, delta508f, H199Q, polymorphism 7T, 9T (not 5T), TG repeats on 10 and 11. I have no clue what the 7t, 9t and TG's mean, does your ambry site give insight on this? CT came back showing mucous and some narrowing of small bronchi tubes. I apprecieate any insight you can give to me.
 
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fsuapril

New member
Hi Steve:

I have a question regarding the CF amplified...my son as you know is having this done at your facility.. my question is: will this test also show any mutations on the SPINK1 and PRSS1 or would that have to have been ordered seperate? The reason I am asking I guess is because my Father In Law also has severe pancreatic problems (was just in hospital as matter of fact) and not sure if might be a genetic panreatitis or if he also might have CF.... we spoke with him and he may go ahead and get CF tested as well..... since he has sever attacks though I am thinking he may benefit more from the Pancreatic amplified testing you have.,

just wasnt sure if hte CF test would also show any of the above mentioned mutations.

thanks in advance for your time! April
 
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Jennifer11

New member
My two year old daughter was diagnosed at birth with CF. She has the mutations Delta F508 and L997F. She has been non-symptomatic. We take her every three-four months for monitering and nothing has changed. Her sweat tests are normal and so are the throat cultures, her weight and height are where they are supposed to be. With these two mutations, what symptoms can I, as her mother/caregiver look for and what can happen to her with these mutations? Also how long if you can tell, will she be non-symptomatic? This is such a complex disease and it's hard to follow sometimes, but I do know that certain mutations cause different problems. I just want to know what they could be in my daughter. My family is having a hard time with it, saying she is OK, but the Dr.'s say she has CF, and I try to explain it to them and since they are stuck in the stone age and don't have computer access they don't research it themselves. How can I better educate my family on my daughters case with CF when I have a hard time understanding it myself sometimes?
 
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fsuapril

New member
Steve:

i called the Lab today and the nice lady i spoke to was very helpful! She did say that the sample was recvd on 27th, and authorization from ins was rcvd on 28th...then the 2nd authorization was rcvd on 10/8.... i am assuming that means that the testing had to go from the 508 first to the amplified?? said it would take about 14 days from the 2nd autho. so i guess i will be waiting for the result another few days at least...

my 2nd question i guess come as i was reading the ambry web site, i was trying to figure out if it did have to go to the amplified, does that mean that there was NO delta f508 or does it mean there would be only one found? either/or?

thanks again, april
 
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sunshine07

New member
I read your post to Ambry and was amazed at how similar our situations are. I have a 13 month old daughter who was diagnosed with CF through the newborn screening program. She has also been non-symptomatic, and goes to the CF Clinic every 3 months for preventative measures. She is perfect for height, and weight and they say sounds crystal clear when they listen to her lungs. Her cultures also come back normal. She has Delta F508 & I1051F which has never been seen before according to Steve at Ambry. My parents are also stuck in the stone age and tell me over and over again there is nothing wrong with her. It is hard for me because the Doctor's say she has Genetic CF, not Clinical. It was very nice to see that there is someone else with a very similar situation that I can relate to. It would be nice to talk with you further. I hope you will be in touch.
 
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peanut07

New member
Hi Steve,

I wrote to you several weeks ago about my then 5yo (he has since turned 6) son having Quest Diagnostics Complete Gene Sequencing. Well I finally got the results and no mutations were found. The test was done at the Nichols Institute in San Juan Capistrano ( if you are familiar). The geneticist would like me to come in to discuss further testing. She wants to look into other disease possibilities and other tests to rule out CF even further. With no symptoms but a positive sweat test we are in a real limbo. Do you feel that perhaps Ambry could pick up something Quest missed? I want to believe that he doesn't have this but at the same time the positive sweat test is weighing heavily on my mind.

Thank you,
Sandy
 
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StevenKeiles

New member
One son,

The 7 and 9 t's are normal and TG only matters when there is a 5T. I have never seen the H199Q so I can't add anything there. I would recommend testing both parents for the two mutations to make sure they are not on the same chromosome if that has not already been done.

April,

The test is being run and is almost completed, should be done within the next week.

Steve
 
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StevenKeiles

New member
Jennifer,

As you said this is a complex disease. No two individuals will have exactly the same disease, even if they are siblings with the same mutations. And if fact, many will be quite different. There is a wide range of symptoms that can occur with these two mutations. However, we do usually see a milder course and many times patients may not even be diagnosed until adulthood.

Some of the symptoms include asthma, sinusitis, and pancreatitis. It is impossible to predict when symptoms might begin, but at least you are in the position to know what to look for and when they do begin you will know why and will not have to search for a diagnosis.

Since she is doing great, that is great and the longer is lasts the better, so be greatful for that and just know that things could change next week, or next month or maybe not for many years.

I hope that helps a little, Best of luck,

Steve
 
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StevenKeiles

New member
Sandy,

I would check to see if they did deletion testing. Regarding your questions about missing something. It is possible we could find something they missed, but very unlikely. I would follow up with the doctor regarding other possibilities.

Best of luck,

Steve
 
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