December 13, 2011

Liver Panel Results

For my fellow PBD families that may be interested in the "numbers" they are below.

While we know that Cystadane (betaine) is not a cure, it may be a possible treatment option for children with PBDs. We still don't know if it is "working" but since the liver levels seemed to have stabilized we will plan to continue the medicine. It is our hope that after six months of treatment that their will be a biochemical change, such as the lowering of Ethan's Very Long Chain Fatty Acids (VLCFAs) that will be a significant enough to say that medicine is "working."

At the present Ethan is the only child with PBD that we know of that is taking Cystadane, so right now he is a case study of one. It is the hope that within the next few months to a year that an FDA approved trial will be up and running that will include a small number of kids with PBD. It was hard for us to decide to go ahead and push to get Ethan on the medicine before an official trial. It is hard to be the first one, now know if it could help, hoping and praying that it wouldn't hurt, etc. Today we are feeling encouraged that we made the right decision to go ahead and start the medicine, not waiting for the trial. Is the medicine going to enhance Ethan's quality of life? Honestly, we don't know, but we sure are praying that it will.

We are so thankful for our geneticist and his nurse for helping us obtain the medicine with the help of the National Organization for Rare Disorders (NORD) because without NORD paying for the medicine it wouldn't be feasible for us to get it for Ethan, as it is very costly. We are also so thankful to Dr. Braverman in Canada for her research and for her willingness to partner with our local geneticist, Dr. Schneider at Carle Clinic in Champaign, to try the medicine. They are both truly dedicated to making life better for the children they see.


10/11/2011
Baseline

11/10/2011
1 mo. of  treatment

12/12/2011
2 mo. of treatment

Normal Ranges
Albumin
4.2

4.9

4.0

3.8-5.4
Alk Phos
398 (H)

457 (H)

476 (H)

117-390
ALT
28

79 (H)

41 (H)

10-40
AST
66 (H)

126 (H)

83 (H)

6-36
Total Billi
0.5

0.4

0.4

0.0-1.0
Total Protein
6.5

7.0

6.3

5.6-7.5
Direct Bili
0.1

0.2

0.1

0.0-0.3

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