HopeyC1972
New member
My 23-month-old son was just diagnosed with CF a few days ago and I am still pretty much in a state of shock. His growth started falling off the curve at around 9 months old, and by 15 months, he was off the charts. At around 7 months old, he developed a cold that never ended and had constant ear infections and chest congestion for the next 8 months. The ear infections responded to anti-biotics, but the chest congestion never did, and I guess now I know why. During this time he had tons of blood work done--from thyroid function tests, Celiac disease, you name it and everything came back normal. In April, my pediatrician finally ordered a sweat test and good God did he drag his heels on getting the results. He said the lab called him to say the results were not CF, but he was waiting to see a pathology report. I heard nothing so assumed everything was fine, and a month later at my son's well visit, I brought the sweat test up again and the doctor was like, "Oh, yeah, the report confuses me so I will call the pathologist and let you know if there is any problem." At the time I also informed him we would be re-locating for my husband's job, but we didn't move till nearly 3 months later, and I heard nothing and again assumed all was fine. By then, the congestion had finally cleared and my son had actually gained 2 lbs at his 18-month visit in our new state and town. In October, I had to contact the old ped for some records for my daughters, and got a fax with Jacob's records as well with a note on the bottom of one page saying he needed a follow up for an abnormal sweat test. I called the ped immediately to find out why I never knew this and his answer was that I left town. I said, yeah, but 4 months AFTER he had the sweat test done, plus his office had all my forwarding info.
Anyway, I made him send me a copy of the sweat test results, especially because by now the congestion had come back in full force. I made an appt. with a pulmonologist for Nov. 19, and we went through everything. She sent him for another sweat test on Dec. 3 and also tested his poop, and did blood work for certain vitamins, allergies and pancreatic function. Of the blood and poop tests, all came back normal except for the allergies. But the sweat test was once again borderline. She decided he had asthma because of the allergy tests, and that sweat tests also come back borderline due to asthma, so we started treating him for that. But, to be on the safe side and rule out CF 100%, she ran an Ambry genetic test, and just this week it came back positive for CF and I could barely believe it. He seems to have the DeltaF508 mutation and the (TG)12-5T, which I am told usually results in a milder form of the disease, but this still scares the crap out of me. I am taking him to a CF center this coming Wednesday, and the pulmonologist said they will probably want to test my girls, who except for being small (but have remained consistent on the growth charts, unlike my son)have never exhibited any symptoms. They have never had one ear infection, get sick maybe once a year briefly, and my oldest actually never had a cold till she was 2 years old. I just can't imagine they could have CF, but know stranger things have happened.
OK, I guess I don't really have a question here. I guess I just needed a place to get this all out where maybe SOMEBODY would understand. My DH refuses to discuss it and there is nobody with any experience with CF on the parening message boards I frequent. And until April, all I ever really knew of CF was an old ER episode from about 12 years ago where Doug Ross had to extubate an 18-yr-old with it who wanted to finally die. That, and a very sad Belva Plain book I read back in college. Since April when this possibility was presented to me, I have educated myself a lot more, but still feel I have so much to learn to be an advocate for my son.
Anyway, I made him send me a copy of the sweat test results, especially because by now the congestion had come back in full force. I made an appt. with a pulmonologist for Nov. 19, and we went through everything. She sent him for another sweat test on Dec. 3 and also tested his poop, and did blood work for certain vitamins, allergies and pancreatic function. Of the blood and poop tests, all came back normal except for the allergies. But the sweat test was once again borderline. She decided he had asthma because of the allergy tests, and that sweat tests also come back borderline due to asthma, so we started treating him for that. But, to be on the safe side and rule out CF 100%, she ran an Ambry genetic test, and just this week it came back positive for CF and I could barely believe it. He seems to have the DeltaF508 mutation and the (TG)12-5T, which I am told usually results in a milder form of the disease, but this still scares the crap out of me. I am taking him to a CF center this coming Wednesday, and the pulmonologist said they will probably want to test my girls, who except for being small (but have remained consistent on the growth charts, unlike my son)have never exhibited any symptoms. They have never had one ear infection, get sick maybe once a year briefly, and my oldest actually never had a cold till she was 2 years old. I just can't imagine they could have CF, but know stranger things have happened.
OK, I guess I don't really have a question here. I guess I just needed a place to get this all out where maybe SOMEBODY would understand. My DH refuses to discuss it and there is nobody with any experience with CF on the parening message boards I frequent. And until April, all I ever really knew of CF was an old ER episode from about 12 years ago where Doug Ross had to extubate an 18-yr-old with it who wanted to finally die. That, and a very sad Belva Plain book I read back in college. Since April when this possibility was presented to me, I have educated myself a lot more, but still feel I have so much to learn to be an advocate for my son.