Friday, January 25, 2013

Medical Update

It seems like a while since I have given any medical update on the Girlies.  Yesterday was a busy day with 3 medical appointments with different specialists here in Kingston.

Results of the genetic testing are back.  It is now confirmed 100% that the girls have Alagille Syndrome with JAG1 being the faulty gene.  There is a 50 % chance that they may transmit Alagille to their children.  Alagille occurs in about 1 in every 70,000 births and is equally common in boys and girls.  The geneticist also made a point of warning us that the girls have small blood vessels and that any bump on the head should result in a trip to emerg to make sure there is no bleeding in the brain.  Follow-up in a year.

The buildup of bilirubin in the blood is causing the girls to be very itchy.  We are starting Benadryl twice a day to see if it helps.  Dr. is making a referral to CHEO with hepatology.  Also, g-tube should be installed end of Feb, early March.  The girls are gaining very well.  From 4.480 kg in Nov, Phuoc is now at 6.28 kg.  From 4.985 kg in Nov, Binh is now at 6.65 kg.  The girls are on continuous feed at night for 10 hours straight, and also receive bolus feedings at meal times.  All that is done with the feeding pumps providing the Peptamen.  Anything else, which is *very* minimal, going in the mouth is considered to be only of a therapeutic nature, most likely not absorbed by their system.  We are hoping that the Ursodiol will drain bile from the liver and that there will eventually be some absorption.  They love the taste of butterscotch pudding and sometimes ask to taste whatever we are eating.  However, most of the time, they refuse to put food in their mouth.  liver disease tends to make people nauseous.  They like soothing on a bottle of Peptamen when they go to sleep at night, while receiving from the tube.  We are now working on increasing the feed rate at meals to about 210 ml/hour.  They are at 55 ml/hour at night.  It is very touchy with them since the slightest increase tends to make them puke everything, including all their meds.  It looks like liver functions are still good and damage to the liver is minimal.  So no transplant in the near future.

Results show that calcium and phosphate levels are up and that the healing process for the rickets has started.  However, vit D levels are still undetectable for Phuoc (less than 8) and *barely* detectable for Binh (12).  We are now looking at the option of intra-muscular vit D.  Dr. needs to get back to us on this.  We are continuing with 5000 IU of regular vit D and also with semi-activated vit D (alfacalcidol). We need to test levels of vit A, E, K.

The girls are moving around a lot, sitting up, starting to make a lot of sounds.  They are doing very well, considering where they were when we arrived in Canada.  The main focus for now is nutrition.

No comments:

Post a Comment