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Cystic Fibrosis Message Board

Cystic Fibrosis Board Index

Hi Everyone it's 1:15 am and of course I can't sleep right now. Welcome to all the new members I see that have come in my long overdue absence. For most who don't know me, I have a 3 yr old little boy w/symptoms since infancy-diarrhea, foul bm's,upper respiratory problem, etc. My son has been anemic for almost his whole life. Jeffrey's sweat tests at age 2.6 were both borderline. We were passed between a gi doctor and an allergist. He had an upper endoscopy when he was 1 and had esophagitis and was put on Zantac for 3 months. We were also told that a few of his enzymes were low but at that time, I was young and naive about CF. During the horrific week of 9/11 Jeffrey was put into the hospital for severe dehydration. His sigmoidoscopy showed a tiny patch of colitis that his doctor thought consistent w/a gi infection.
After we left, he had a bit of a growth spurt until. His bloodwork has been off for a long time- low prealbumin, low zinc, low hematacrit& hemoglobin, high sed rate and much more. He also has many skin problems. He has blotches all over his arms and legs that he scratches and sucks on. But I think a major deterrent for his drs has been his reaction to new food. Whenever jeffrey has a new food, e.g. (most recent) 3 tbsp of vanila yogurt every other day, he loves it and all is well until after his third, fourth, fifth day and all hell breaks loose. The next day after he poops, his butt, genital area, anus-crack break out so badly that it will generally bleed. There are tiny little pin-point hemorrhages all over these areas. And it can take over a week after discontinuing the food, for it to clear. His diet is extremely limited because of these reasons. He can't handle anything w/milk, egg, fruits, and vegetables-except bananas, potatoes, yams. This pattern started when he was put on baby food at 6 months. He's been tested subsequent times for food allergies-all negative. Thus, after being passed between the first gi doctor& allergist for re 18 mos, and when I was told my son "looked to good to have cf" I knew it was time to change drs.
But now let me try and catch you up. We are finally w/a cf dr who's wonderful. He was astonished when he'd heard Jeffrey had never had a chest xray, sputum, etc. He also repeated the genetics test and sent it to Ambry Genetics in Ca which does the most mutations of anywhere I believe.
Current- chest xray-, sputum culture- stool elastase test-. But the 2nd and more comprehensive genetics test found a polymorphism M470V intron 8 exon 10. The test said he was a 5T/7T variant. However, no mutation was found. Seana, last week at 2 am I finally found your post re Courtney's same poly and I was devastated. What has your dr said about it? Do you know re about the other things I listed? Anyways,it's a well-known and documented-poly. (1990) My son isn't gaining much weight although he doesn't look emaciated because of his muscular build. I think they should do a 3rd sweat test even though others were borderline. He's also had and has chronic anemia even w/ ADEK's, 2 vials of iron, (other Nasonex (and) Benadryl and just stopped Zyretc. He's also on Creon 5 however, on a low dosage until there is a definitive diagnosis. He's very irritable right now. His tonsils and adenoids are so enlarged they need to come out asap. The ENT saw everything w/out a scope down his throat or nose. Anybody else have to get this done for cf child or non-cf child? Anybody w/ these obscure and perplexing skin problems that won't allow him to eat like a 3 yr old? Please let me know as you can see, I'm at my wit's end. I've thought he's had cf since last summer. His new cf dr. wants another opinion from a colleague-a respected gi from (his) hospital. I'm also wondering re the Nasal Potential Difference test but heard it's only done in North Carolina- home to my favorite singer- Clay Aiken. Jeffrey was also adopted at birth in WI. My husband & I waited over 8 yrs for a child- very bad luck-3 agencies went bankrupt and my many health problems didn't help- been on disability since 1989. My husband is in complete denial and Jeffrey is our 1 and only child we never thought we'd have. I welcome any advice, similar experience, or ideas you may have. I apologize for the exceptionally long post but many of you aren't familiar w/ Jeffrey and now you are. Thanks Susan

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