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Results = Underwhelming and Inconclusive

So, today was the BIG day we've been waiting for....

Well, in many ways it was very underwhelming and the results pretty inconclusive. There were are few small improvements but nothing really significant and a few of the numbers were actually a bit worse, but we might know why for some of them.

Ethan's VLCFA Levels

Normal Controls


2 months of Cystadane treatment

6 months of Cystadane treatment
C26:0 Hexacosanoic
.23 +/- 0.09



.18 +/- 0.09



Phytanic Acid



Pristanic Acid



C 22:0
20.97 +/- 6.27



17.59 +/- 5.36



C22:1 (n-9)
1.36 +/-0.79



0.84 +/-  0.10



0.01+/-   0.004




*The doctor believes that the elevated Phytanic and Pristanic Acid levels are due to the fish-based DHA that we have been giving Ethan. For the last month of so we have not been able to find an algae-based liquid form and therefore have had to give him the fish-based. Luckily, this afternoon, a fellow mom in our GFPD group shared that she had found one, so we've placed an order. Hopefully once we are able to switch back to the algae-based vs. the fish these levels will go back down.

Ethan's Plasmalogen/Fatty Acid Ratios (Mean)

Normal Controls


2 months of Cystadane treatment

6 months of Cystadane treatment
C16:0 DMA / C16:0 Fatty Acid



C18:0 DMA/ C18:0 Fatty Acid




*The doctor isn't really sure why there was a decrease in these numbers. It was only very slight, and he isn't really concerned, but we just don't really know why there has been a decrease.

So, what do we do now?
Well, our doctor is going to share all of the results with Dr. Braverman and they are going to decide how much we should increase the dose of Cystadane. Since Ethan's liver function levels, cortisol and ACTH levels are all staying stable and it doesn't appear that Ethan is having any adverse reaction to the Cystadane, we are going to push the dose up to see if we can get some more results. We should here back about the increased dosage sometime this week.

How am I feeling?
A little down. I knew that this wasn't going to be a "cure" and that the test results wouldn't come back and the doctor say, "I don't know how to tell you this but all of Ethan's test results came back NORMAL." but we were of course praying that we would see a significant improvement in the blood work. I am glad that we have a plan in place and we aren't going to give up trying to see if Cystadane is a medicine that could made a difference. I am thankful to even have this opportunity to try to see if there is something out there that will help improve Ethan's quality of life (and the quality of life for all children impacted by PBD).


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