Test Results after 1 month of the new dose of betaine (Cystadane)

On Tuesday,  I just got the call from our geneticist's nurse (at 5pm as she was headed out the door) and the bloodwork that we did after Ethan had been on the new higher dose of Cystadane (betaine) -- the experimental medicine --- came back this afternoon. Apparently our doctor has already been in contact with Dr. Braverman (geneticist from Canada/PBD-ZSD specialist) and they are encouraged because there appears to be a "slight" improvement- with his numbers trending "a bit" closer to "normal." The lab results were put in the mail, and we got them today when we returned home from being out of town.

Are these findings enough to say that the medicine is "working?" I'm not sure we can say that yet, but for now, we can assume it isn't "hurting," and we will be continuing Ethan at the current dosage --- not sure when we will check levels again to see if the "trend" is still occuring, probably in a couple of months. Please continue to keep Ethan in your prayers and all families impacted by PBD-ZSD. Pray that the proposed clinical trial will soon be underway so that other children will have access to this medicine -- because what if it is helping? If it is, we want as many families as possible to have access. No, it isn't a cure, but if it could mean that individuals with PBD-ZSD have a better quality of life, it is a huge step in the right direction!

Okay, so they tested a bunch of different things and levels, but the C24/C22 and C26/C22 ratios/levels are the ones that the doctors seem to be watching the closest because Dr. Braverman said in an email to me that, "these ratios seem to be the most sensitive indicator for VLCFAs." 

Ethan's C24/C22 levels

  • December 2011: 1.865
  • April 2012: 1.606
  • September 2012: 1.407

Normal controls are 0.84 +/- 0.10 ----- so you can see that while it is only a slight trend, it is getting "closer" to normal.

Ethan's C26/C22 levels

  • December 2011: 0.353
  • April 2012: 0.199
  • September 2012: 0.187

Normal controls are 0.01 +/- 0.004 ---- again, you can see that the trend is an improvement even if they are still a long way from normal.

So although it is only slight improvement there is a trend of improvement so that is very encouraging. Overall, I'm very happy! Please keep praying for Ethan, and all the children and families impacted by PBD-ZSD.


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