I am going to copy part of one my posts from the special needs forum to explain some of what is going on with Braden.

<<Right now we are waiting for the only researcher in the country to do a test on Braden's bile 'when she gets around to it' in a few months (we have already waited several months to even find this much out). They are looking to confirm an extremely rare liver disorder PFIC MDR3. There are only request from anywhere in the US to do this test every 2-3 yrs. Right now we are facing doing a procedure, an ERCP with general anesthesia and risks for all kinds of complications, every 3 months until Braden stops growing (is an adult). This is if he doesn't have PFIC, he needs a stent in his common bile duct replaced every 3 months so that he won't go into liver failure, and very high doses of meds to help the quality of his bile. If he does have PFIC (it's likely he does) then there have been no cases of survival without a liver transplant before 10 yrs old. If he gets a liver transplant then he will likely get a small bowel transplant also, because he has extreme short bowel syndrome and a new liver alone would probably not be enough to help him.>>

I was hoping that you may be able to point me in the right direction as far as finding a researcher who could help us. I understand that more research is going on in the UK (still probably not much if any..) than in the US for PFIC the MDR3 mutation and it's diagnosis. Do you or your friend who is a GI have any ideas on who we could talk to about testing ? I would very much appreciate any help you could give us, and if you can't I totally understand. I know this is a long shot for you to know anyone who may have an interest in PFIC/genetics research, but though it is worth a shot with your connections. Thanks in advance

Lorraine

Reach for the heart of God and not just His hands.
Organ donation saves lives!
Life happens when love is given.


http://www.caringbridge.org/visit/bradenwild

Lorraine - I'm so sorry that Braden is going through this. I don't know anything about PFIC but after a quick look found the abstract of an article by a Dutch researcher, which has his e-mail address attached. I suggest you e-mail him/her and ask for information. I'll have another look around later when I have a bit more time. Sorry I can't be more help

sarah

Liver Int. 2003 Oct;23(5):315-22. Genetic cholestasis, causes and consequences for hepatobiliary transport.

Jansen PL, Sturm E.

Department of Gastroenterology,University Hospital Groningen, The Netherlands. p.l.m.jansen@int.azg.nl

Bile salts take part in an efficient enterohepatic circulation in which most of the secreted bile salts are reclaimed by absorption in the terminal ileum. In the liver, the sodium-dependent taurocholate transporter at the basolateral (sinusoidal) membrane and the bile salt export pump at the canalicular membrane mediate hepatic uptake and hepatobiliary secretion of bile salts. Canalicular secretion is the driving force for the enterohepatic cycling of bile salts and most genetic diseases are caused by defects of canalicular secretion. Impairment of bile flow leads to adaptive changes in the expression of transporter proteins and enzymes of the cytochrome P-450 system involved in the metabolism of cholesterol and bile acids. Bile salts act as ligands for transcription factors. As such, they stimulate or inhibit the transcription of genes encoding transporters and enzymes involved in their own metabolism. Together these changes appear to serve mainly a hepatoprotective function. Progressive familial intrahepatic cholestasis (PFIC) results from mutations in various genes encoding hepatobiliary transport proteins. Mutations in the FIC1 gene cause relapsing or permanent cholestasis. The relapsing type of cholestasis is called benign recurrent intrahepatic cholestasis, the permanent type of cholestasis PFIC type 1. PFIC type 2 results from mutations in the bile salt export pump (BSEP) gene. This is associated with permanent cholestasis since birth. Serum gamma-glutamyltransferase (gamma-GT) activity is low to normal in PFIC types 1 and 2. Bile diversion procedures, causing a decreased bile salt pool, have a beneficial effect in a number of patients with these diseases. However, liver transplantation is often necessary. PFIC type 3 is caused by mutations in the MDR3 gene. MDR3 is a phospholipid translocator in the canalicular membrane. Because of the inability to secrete phospholipids, patients with PFIC type 3 produce bile acid-rich toxic bile that damages the intrahepatic bile ducts. Serum gamma-GT activity is elevated in these patients. Ursodeoxycholic acid therapy is useful for patients with a partial defect. Liver transplantation is a more definitive therapy for these patients.

Sarah
Thanks for the help and the email address. I will send them a request for help and maybe they will be able to at least direct me to a researcher who is working on PFIC genetic research. I really appreciate everything you have helped me with. Hope things are well with you and your family, have fun at your children's birthday party !

Lorraine

Reach for the heart of God and not just His hands.
Organ donation saves lives!
Life happens when love is given.


http://www.caringbridge.org/visit/bradenwild

Hoi Lorraine,

Sorry about your son, Braden. I don't know everything but I sometimes read your posts. I just happened to read this one and I am from the Netherlands. My sisters BIL works at that hospital. So if for any reason this e-mail address doesn't work, mail me and I will try to see what I can do. If you contact him directly that would be best. Just if it doesn't work or if you feel I could do anything else then pray for a good outcome and a better live for Braden, let me know.


Marian mom to Lieke 10-'94 and Teun, Eefje and Pim 11-'01

Marian mom to Lieke 10-'94 and Teun, Eefje and Pim 11-'01

Hi Marian
Thanks for your help It always amazes me what a small world we live in, and that we are never more than a few connections away from anyone in this world.

Lorraine

Reach for the heart of God and not just His hands.
Organ donation saves lives!
Life happens when love is given.


http://www.caringbridge.org/visit/bradenwild