Yesterday we did a day trip to Stanford to see Gwendolyn's Pulmonologist, Dr. Nanci Yuan, about our recent concerns. The good news is Gwendolyn does not have pneumonia or areas of atelectasis in her lungs. The bad news is the changes we are seeing are in large part because her chest wall is beginning to concave, a sign of her disease progressing. We noticed this physical change months ago — she went from barrel chested to a bell/pear shape — and we knew it was because of her disease and the loss of muscle in her chest wall. Yesterday Dr. Yuan, as the breathing specialist, explained to us how that physical change impacts her ability to breathe deeply, thus more independently of assistance on the bi-pap. These changes also make Gwendolyn's ability to fight through any sort of respiratory issue (cold, pneumonia, collapsed lung, etc.) in the future much more difficult. While in a way this is no shock, it is always difficult to hear that her disease is moving forward when all we want to do is stop it in its tracks, shoo it away, fight it off…anything, but that SMA keeps creeping closer. Dr. Yuan increased her bi-pap settings to 18/6 from 15/5 (she started on the bi-pap in May 2008 at 12/4) — we still have quite a bit of room to continue to increase her settings, but it seems scary to be continuing to move up the scale. Gwendolyn does seem fine and comfortable on the bi-pap, actually relieved when we put it back on her most of the time, which is a huge blessing.
We also visited Dr. Wang about the clinical trial and Gwendolyn was officially taken out of the study. Not because of Dr. Wang, but because of the rigid protocols of the study and the fact that her inability to be off of bi-pap consistently is considered an “adverse event” within those protocols. It's okay. We only had a few more weeks left in the study and the good news is, from a research standpoint, Gwendolyn's data will be 100% usable as she was able to pass the 4 week mark with no issues — something that was very important to us. We will be watching closely to see if there is any loss of the movement that has seemed to increase this summer while she was on the sodium phenylbutyrate compound.
We are all really tired after the long drive and deflated after the difficult news. Dr. Yuan always reassures us that SMA isn't always linear though, so we may be able to work to get Gwendolyn back up to where she was, off of bi-pap up to 6 hours per day, but the time periods that she is able to come off will most likely be shorter than in the past (we used to sprint her for up to 2 hours per time and now we most likely will need to keep the sprints to under an hour at the most). Doing so would provide Gwendolyn and us a great deal more freedom than the current 24/7 bi-pap use.