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Carriers and Symptoms? Hi all, I hope this post finds all of you healthy and happy. I've been wondering a lot about the possibility or potential of carriers of x linked CGD having symptoms. When I was found to be a carrier, I really didn't ask questions. My life hadn't been that different than most anybody I'd been around. Sure, I'd had pneumonia and sensitive skin issues... but nothing I thought out of the ordinary. Here lately, I've been getting a major rash on my hands. It's like lesions of tiny blisters on the thumbs and fingers that eventually dry up and become hard and break and hurt! I've blamed it on cleaning products I use, but I know better... they appear when I haven't used the products at all. I've also, in the last few years, developed bacterial infections in some not so great places... under my arms and in the crevice of my legs. A couple have been so bad that I've had to have them opened just as my son has his infections drained. I was just wondering if any of you are carriers and have similiar issues. Could these things be related to the CGD issue? Thanks for taking the time. Connie - (Bensmom)
Submitted by Bensmom on Tue, 2008-05-06 08:45. categories [ General Discussion ]
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Thank you for your response, Karen. Ben has a well check coming up next month at Duke so I'll talk to him then. I'll let you know what I find out. And just having someone that understands my questions and concerns helps SO much.. thank you again. Connie One day at a time.... and smile. :)  Hi Connie. Sorry to hear you're not feeling the best. I know a lot about this topic as I am probably one the of extreme cases when it comes to x-linked carriers presenting symptoms. In all women, there is a process called lyonisation which just means that since we have two X chromosomes, but don't need two copies of genetic matieral, different genes from each X will randomly deactivate. In a perfect scenario, this would be about a 50/50 split. In my case, when it came to the gene responsible for CGD, I have only 3% normal functioning cells. To put that in perspective, most carriers have over 90% normal, autorecessive CGD patients typically have between 10-15% normal, and X-linked CGD boys have 0%. I myself am on a daily anitbiobic and antifungal. I have had two life-threating illnesses in my life as well as other gram-negative infections. That said, perhaps you could ask Ben's doctor to test you to see what percent of your cells have normal function. On another note, many CGD carriers also experience lupus-like symptoms (lupus-like because often the ana test for lupus comes up negative). I was diagnosed after a nasty rash that began with my hands, then my upper arms and collarbone area. I also had joint pain, mouth ulcers, and thining hair. I am now on medication for the lupus. They diagnosed it through a biopsy of the rash done by a dermatologist. If you have any other questions about carriers, as I said, I know a lot because I've had to. Most doctors haven't even heard of CGD, and when it comes to lyonisation, even less is known, even by NIH. I did find some recent studies that confirm age-related skewing of lyonisation, meaning that your normal functioning cells can reduce over time. It's all just interesting stuff, and I hope more research continues to be done. Let me know if you have any questions. Thanks, and I hope you get it figured out. Keep us posted! Gina Hey there Gina. I'm so sorry to hear that you've had the problems you have. But it sounds like you're doing great now and I'm thankful for that. :) I feel pretty sure that the problems I'm having are carrier related. There has just been too many "things" happening too often. Next month, we'll take Ben to Duke for a check up and that'll give me the chance to talk to the doctor about Lyonisation. I've also had mouth ulcers and cold sores, and sometimes my joints and muscles, especially in my legs, hurt like crazy. My doc even checked me for rheumatoid arthritis but it was negative. Thank you so much for your input. I've known deep in my mind that these things were CGD related for a while. It's just now getting to the point that it's time to focus up and do what I need to do. I sure will let you know what I find. Take care! Connie One day at a time.... and smile. :) |
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I have heard of carriers having problem with skin and other symptoms. Fortunatley all the carriers in my family have been symptom free. I was e-mailing someone several years ago that was a carrier and was having a similar problem. I would check with Ben's Dr., if he is CGD knowledgable, and see if you need any meds. They might put you on antibiotics.
Hope this helps!
Karen