Anyone ever heard of that or know anyone who has it? It's rare; my sister has it and is investigating various treatment options. Just looking for any help you might have here.

By Mommyathome on Friday, February 6, 2004 - 12:00 pm:

Good grief....that is a long set of words. I haven't ever heard of it. I hope she finds the answers she needs. Is it a serious diagnosis? Is it something that can be "fixed"? Or, is this just what she is trying to figure out right now?

By Kate on Friday, February 6, 2004 - 01:09 pm:

It's serious. She's lacking the portal vein. The portal vein goes from your heart to your liver and is a heavy duty vein meant to carry large volumes of blood. Because she doesn't have this, smaller, 'wimpy' veins have had to pick up the slack and they can't handle it so they are weakened and have ruptured several times in the past resulting in severe hemorraghing. The veins in her stomach and esophagus are the weakened veins and she's had two bleeding episodes in one year which is unusual for her, so they are trying to figure out treatments. She's actually had this condition for 20 years and had maybe eight bleeds, until these recent two in the one year period. No one knew what she had or why she'd hemorraghed in the past, but it was all figured out last year and so they are actively seeking answers and treatment.

By Pamt on Friday, February 6, 2004 - 03:30 pm:

Kate,
Here's the closest thing I've found. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cavernous%20Malformation You might want to search the whole database though. Just a general search for "rare disease" or "rare disorder" will generate a lot of databases where you can look for further info. HTH!

By Ginny~moderator on Friday, February 6, 2004 - 06:22 pm:

Kate, where does your sister live? What major city, major hospital (especially a teaching hospital) is near? She should be dealing with a really major specialist group for something like this.

By Kate on Friday, February 6, 2004 - 06:27 pm:

She is; she's dealing with the Mayo Clinic.

By Ginny~moderator on Friday, February 6, 2004 - 06:35 pm:

In that case, she is obviously in excellent hands. Sounds truly frightening, and I will certainly keep her in my thoughts.