When my daughter was diagnosed I did a bit of searching on the Internet to find more information. The info packet from the geneticist we see was somewhat limited and it was written in some pretty deep medical terminology. Trouble was there wasn't much out on the web.
But that was two years ago. Over the weekend, Jen, a new poster here on the site, gave me some great new links to recent information about 1p36 deletion syndrome. I've placed them under the links section on the right side of the page. I've you have questions about the specifics of this syndrome you'll find the answers there. The orphanet link takes you to a pdf about 1p36 deletions. It has some interesting info about studies that have been performed and what they've found about the missing pieces of 1p36. The Rare Diseases Sweden link is also a good one that covers some of the same information.
The best of the bunch is 1p36.com. It was set up by a mother who had a child diagnosed with a 1p36 deletion. She has collected a bunch of information, diagrams and pictures and put it all up on the site. I was very impressed. They also have a chat room, but I don't really know if it's ever active. The message board was disabled too, but the info there is very extensive.
In my spare time, I'm going to try and condense the best of all this information and get a wikipedia article together. Currently, they don't have one at all, so I'm hoping to add one that will help people. I'll post a link if it goes in.
6 comments:
I'm not sure what kinds of information your geneticists gave you when your little one was diagnosed, but what we got was little more than printouts of pages from the internet -- several from 1p36.com, and a few other things.
What I've noticed -- and been severely disappointed in, as well! -- is that no matter how many resources I find on the web, the information they convey, and even the wording, is often word-for-word, as though there is only one definitive study out there (I'm guessing the one on Orphanet, since that is the only copy I've found with all the acknowledgements), and everything else is derivitive. I always get so excited at finding new technical information, only to be subsequently disappointed in its only being a re-posting of that original document.
I'm clinging to the little bit I find on message boards and blogs, then, to try and fill in the (glaringly obvious!) blanks!
Also: I'm all for starting up a Wiki, and would be glad to offer what information I can. I'm hoping to try and get copies of current studies from Washington STate University (I'm waiting on email from the lead researcher; she was out of the country the last time I tried to contact her) to maybe have another source of information!
Anyway, thanks for all the information, and welcome again, Jen! Glad to see new faces out there!
--bella
Yeah, you're right. I have noticed that quite a bit of the information out there is just a retread of the same source. I know my daughter's geneticist is working on another study but no idea on when it will be published. It'd sure be nice to have some more info.
In the mean time it would be really cool to get a 1p36 article going on Wikipedia and have everyone contribute to it. I feel like our collective knowledge compiled into something like that would really help people.
Nate,
Hi. I am Christina. I have a 14 year old with -1p36. I just found your BLOG. Are you a member of our 1p36 yahoo group. I am the moderator of the group? We have several members now. You can find us at http://health.groups.yahoo.com/group/1p36_Deletion_Syndrome/
The message board on www.1p36.com is working now. come check it out!
Wow! Hello Christina. Thank you for finding me and posting here! I've just sent a request to join your yahoo group and a request for 1p36.com message board access. I'm amazed to hear of a 14 year old with a diagnosed 1p36 deletion. I imagine you were one of the first known 1p36 parents in the world! It's a pleasure to make contact with you and I hope to learn a lot from the new resources you've mentioned.
My daughter Clare is 16 years old and was finally diagnosed with 1p36 about 4 years ago. Although her problems were obvious from birth - congenital heart disease, hypotonia, smallish head, poor sucking reflex, difficult to get her to gain weight (she now tends towards being over weight), distinctive face, hands and feet. Later became global developmental delay - I really hate that term as I think it gives a false impression that everything will catch up. Some things she has caught up on, but her communication skills are her own unique combination of makaton sign language, some talking, some symbols, some signs and the person she is communicating with keeping on guessing until you get it right or she gives up on you as a lost cause. For example some days I cannot think of enough names beginning with S or D to finally come up with the right one.
We also pushed to get her autistic traits formally diagnosed last year. These were obvious to us and parents of children who have known her for a long time but somehow obscured to professionals. I think that the mix of self harming, screaming bouts, difficulties in getting to talk and autistic traits all added together can make life tough at times for the child and the whole family. So to deal with you need to understand the whole package and use behaviour management technigues that are right for your child. The problem to us has been finding out what they were and what worked.
She gets stuck on topics and does not like letting them go. There are only so many times I can cope with the same story over and over again - at the moment it is about the yellow school bus crashing into a tree and her then acting out having a broken leg.
It seems to me that as parents we face many challenges and that we need more information about the syndrome, how to manage it day to day and how to deal with it over the years as one set of issues become less important only to be overtaken by another. Perhaps some of the best information will only come from other parents and primary carers.
Hi Sheila,
I'm always amazed when I hear about experiences like yours where you've worked with your child's various disabilities for so many years before a diagnosis ever arrives. As you've probably read here, my experience was just the opposite, with a 1p36 deletion being detected at just 6 months. I admire you for your continuing determination! You're right. With these kids it seems to be one thing after another. As one issue improves, something else crops up. I can only imagine the things my wife and I will face when our daughter is 16. Each day sure brings something new!
All the best to you and your family!
Nate
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