New member welcome: Bridgetjulia

[Matt Lewis]

Welcome to the forums and Merry Christmas! I see from your profile that we have a scientist on board! :) It's good to have you, and please let me know if you have any questions about the forums etc. Otherwise, feel free to post anything!
Kind regards,
matt

[Kathyblue]

hello and welcome. I was diagnosed with cystinuria about a year ago. Im still pretty new at this whole thing but i would love to talk to you and share any advice. Anyhow, good to see you on here! :)

[Bridgetjulia]

It worked! ...

Well hi everybody! I'm off of classes for the holidays, and was doing a little research on a few (field-of-study-related) topics that interest me...and came across this forum.

I was found to have Cystinuria as an infant, via the Quebec neonatal screening program that was in place at the time. I was followed by a Dr. Paul Goodyer at the Montreal Children's Hospital until I became of legal age (18), mostly to participate in a genetic study on the disease.
I was told that I have "Type I/III Cystinuria (my mother being a type III and my father type I, but neither of them classified as cystinurics, apparently) and that this was a relatively milder form. I've never gotten a stone to date and have to admit that Cystinuria has never really bothered me apart from some mild discomfort when I was very young and didn't drink enough. The doctor generally told me not to worry unless I ever experienced pain, in which case to contact him for a referral. I feel a bit guilty in this sense, since so many others with the disease seem to suffer.
My main health problem has been Anorexia Nervosa, which I have had since I was 14 but now is under control and slowly improving. I'm now 20.

I'm also interested in Cystinuria because I am currently working toward a BSc in Biology, concentration Human Genetics. The doctor conducting the study and similar ones to the one I was in is a member of the department, and I was thinking about approaching him for an Independent Study credit.

I'd be interested to hear about your own experiences, how you found out about the disease, etc etc !

[Matt Lewis]

Well you really seem to share the interest in the scientific aspect! It'll be exciting to have you here. :)
Dr. Goodyer sounds like a familiar name from some of the cystinuria literature out there. I wonder if he's published anything?
Oh, BTW, have you looked at the "links" page of the main cystinuria site? (www.cystinuria.org) There's a link to the National Center for Biotechnology Information (U.S.) PubMed. Anything worth reading can be found there. Alternativly, just click on www.pubmed.com and you're there. Try a search for cystinuria (or any of the other diseases you're interested in) and i think you'll find it a very informative resource. There's a lot of info on the genetics of cystinuria, and it's actually still very much under the microscope. Two genes have been found responsible for the disease so far, but there's a lot of questions surrounding a possible third (or more). Also, it appears as though the 3 class system (types I, II, and III) might be up for question.
Anyhow, just thought i'd share that link as i believe it is one of the most important resources out there for researching anything. Perhaps, being in your field of study, you already knew about it. So if you do, i apoligise. Either way (keeping on topic with the "welcome"), it's good to have you here. :)
matt
p.s. i deleted your test post FYI. Hope you don't mind.

[Bridgetjulia]

Pubmed is great! I haven't had a chance to completely research it yet, but am slowly learning more. Don't appologize!

If you type in "Goodyer P" in pubmed, some of his articles come up. But a lot of the older ones that interest me (the ones from the early 90s and late 80s) are not online, so I'll try to get them next time I'm near the med library at school. I have some saved as PDF files, which I'll see if I can upload (but they might be big, I'll see....).
No problem about deleting the other post. After all, you're the webmaster, and I only did because I didn't want to write a long reply and not be able to post.
And I'm not really a scientist yet! I still have 2 more years before I complete my BSc! I know quite a bit in the field, the basics of Molecular Biology and Organic chem, but I;m by no means an expert! :)
Let's see if I can upload those files....

Bridgetjulia

[Bridgetjulia]

Hmm, I tried to upload and it didn;t work...it said "invalid"...

Bridgetjulia

[Matt Lewis]

Originally posted by Bridgetjulia
No problem about deleting the other post. After all, you're the webmaster, and I only did because I didn't want to write a long reply and not be able to post...
Let's see if I can upload those files....
That's what i figured. :) I really try not to moderate anything as it is the users that make the board and not some admin, but hey, i'm a neat freak. :D
If you want to e-mail them to me, perhaps i could host them on the site here. I'm not sure how legal that is (it's probably not, come to think of it...) but i'd like to read through them at least. Also, i would be happy to distribute them to anyone who wanted a copy so you wouldn't have to. I think it's more legal that way anyhow, 1 on 1 for personal use. Anyhow, let me know, my e-mail's admin@cystinuria.org. It's also under "Contact Us" on the main www.cystinuria.org page.
Thanks!
matt