Saturday, December 15, 2012

Diagnosis In

We received the preliminary results yesterday from the liver biopsy: Alagille Syndrome.  There.  Now we know who the enemy to fight is.  Those results will be confirmed when the genetic testing findings come back.  We still don't know how much damage the livers have suffered.  The gastroenterologist seems pretty confident since the liver functions are still good.

Now.  What to do.  First thing is to work on nutrition.  The girls are both on bolus feedings at meal times now and continuous feedings for 9 hours overnight.  All that through NG tube with the pumps.  Phuoc will have her swallow test on Monday, so hopefully, we will be able to give her some solids at meal times after that without worrying that food will end up in the lungs.  Binh still receives solids at meal times since she has no issue with swallowing.

Vitamins are a big part of the nutrition plan.  Results still show undetectable levels of vit D which shows nothing is absorbed on that front.  They are supplemented heavily with vit A, E, K, D and calcium.  They also started another type of vit D, the semi activated form, which does not need the input of the liver as much.

With Alagille comes the problem of bile not exiting the liver, which explains the jaundice.  A med has been started to help release the bile from the liver to help absorb the fat ingested.  Jaundice might clear up as well eventually.

A consultation at CHEO is in the cards in the next 3 months to go meet a liver specialist.  Depending on the damage in the liver, a transplant might or might not be necessary down the road.  Our options then would be Toronto or Montreal.  But we are far from the transplant road right now.

From what I understand, and this will be a long learning journey, Alagille Syndrome is there to stay but can be managed.  We are lucky in our bad luck as a diagnosis of biliary atresia would have been far worse.

Our equipment will be delivered at the hospital on Monday so we can get acquainted with it all before discharge sometimes next week.

The girls are about 6 pounds away from the 0.1 percentile for their age.  Lots of catching up to do.

1 comment:

  1. I'm so happy there are answers with solid solutions. Yahhhhhhhh!!!!!!!!! (((((HUG)))))