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Makmomma2
12-11-2014, 12:37 PM
Well my daughter had the fecal elase (not sure on spelling, sorry) testing done, doctor at CF clinic said it came back fine, no loss of pancreatic function, so relieved!! She also had blood drawn for the Ambry full screen. We waited a little over a month till the doctor called with results. He said given her negative sweat tests and only the one known disease causing mutation he is considering her just a carrier. I was so relieved with this news I didn't think to ask what the actual results were! I called the CF clinic asking if they could fax the results of both tests to me & the receptionist stated she would have to check with the CF coordinator. Is it typical for people to have difficulty obtaining their test results? Also she has had this yucky sounding cough EVERYDAY since it started on Oct 22, when I told the CF doctor he says "It may just be one virus after the other, don't worry unless she gets fevers". My thought is, don't virus' typically cause fevers? Out of the ordinary for her, she has not had a fever since August. GI doctor says she has had this cough for far too long. (GI doc is not CF accredited) GI doc is checking stools for other malabsorption issues and has ordered blood tests to look for Celiac disease and Alpha-1 Antitrypsin deficiency.


My question, and hopefully I will be able to obtain DNA results. IF it says they found a mutation of unknown significance, could it later be determined to be disease causing & if so how will I ever know? Would the doctor who ordered the test be responsible for notifying me? I feel like the answers are never clear

Thanks in advance!

jshet
12-14-2014, 07:17 PM
A mutation can be changed to be classified as disease causing in the future. The best thing you can do to keep your peace of mind is to periodically check the cystic fibrosis mutation database online. I would doubt the doctor would notify you of the change, so your best bet is to check the database yourself. Good luck!

Makmomma2
12-14-2014, 08:54 PM
Thanks so much for your reply! I fortunately was able to obtain her test results after calling the clinic again. They state the only mutation they were able to find was the delF508 and no other mutations were found :). Feeling much more relaxed. Thanks again and best wishes for everyone!

Beccamom
12-17-2014, 09:20 PM
My 15 year old has been in limbo for a diagnosis her entire life. She has Alpha 1 antitripsin deficiency but I am told it does not affect the lungs until adulthood. She is genetically a CF carrier. She is negative for Primary Ciliary Dyskinesia. A CF doctor works with kids who are dying and so a CF carrier with a cough means nothing to them. As for CF sputum culture so you actually know if your child has a virus or a specific bacteria and if it is bacteria what antibiotic will work.

Makmomma2
12-17-2014, 10:17 PM
Thank you for your response Beccamom! Does your daughter pass the sweat test?

It's so frustrating, I just want her to get the proper care. We found out Monday that the echo she had shows a possible PFO, (hole between atriums)but pediatrician says she doesn't need to follow up with cardiology because they don't do anything for PFO anyway. But now my wheels are turning questioning if it could all be cardiac related in some way. And apparently the blood they drew for Alpha 1 testing was not accepted at lab (too much clotting) so we have to go back tomorrow. One thing after another, but she is worth every moment!

Wishing you and your family healthy and safe holidays!