What happens when I don't post for a few months? A lot. Mostly not that great, but there is a light at the end of the tunnel, so to speak.
Over the last couple of months, Val and I have watched our sweet girl lose a lot of skills she worked hard to achieve. As a parent, that is hard to watch. Despite cognitively being as she always has been (and yes, we are lucky and grateful for that), her motor skills have really declined, with no real explanation other than disease progression. She's lost more function in her right hand/arm, her left hand is now less coordinated, her walking has tanked despite a bigger brace on her right foot, her chewing/swallowing has become labored and her speech more difficult to understand, and her anxiety has increased again.
Last week we reached out to our local metabolic doc who after hearing our description of issues, was concerned about a stroke. Due to Samantha's mutation, she absolutely is at risk of strokes. However, we suspected it was not something as acute as a stroke as we have seen these changes occur gradually (although the last few weeks it does seem they progressed faster). Nonetheless, it was decided we would make a trip to the ER to rule out a stroke. We were stubborn and waited until the morning as we were not up for taking a sleepy kid to the ER to be poked and prodded. Once the ER folks examined Sam and talked with us, a stroke was soon ruled out. The neurologist on call was very sweet to us, but really did not suggest much in terms of how to help Samantha get back to where she was a few months ago. Instead, she gave us the "look" and talked about quality of life. While we appreciate how serious a diagnosis Leigh's is, we are not quite ready for that talk yet, and we have seen our girl bounce back before.
We went home a bit (a lot) deflated last week and began to deal with more anxiety in our girl caused by the day at the ER. Deciding that perhaps the local, nationally acclaimed hospital might not be what we always need, we reached out to Dr. C in Ohio again. Val talked with him at length on the phone and via email, and it was decided we should go out and see him ASAP. In addition, we decided that despite the distance, we would prefer to have him be our primary neurologist going forward. To be honest, the neurologist we've felt the most connection to at our local hospital is leaving in July anyway, so this is actually perfect timing.
Through small miracles and the generosity of kind people, we were able to get to Ohio yesterday on a private flight (trying to get a commercial flight squared away for a trach/vent kid in less than a few days is darn near impossible, and driving would have Val away from patients far too long).
Dr. C spent many hours with us yesterday and today. He felt there were some holes in Samantha's treatment plan and was willing to provide hope that perhaps we can get Samantha back to where she was a few months ago. Hope is good. Very good. Dr. C is increasing a few meds, and adding two more. In addition, we are going to give Samantha a couple of hours of "vent" time during the day to see if that helps conserve her energy level. Finally, she had two blood draws today to see how well she is absorbing the EPI-743. If she is not absorbing it as she should, there are definite ways to help fix that problem.
The truth is, as wonderful as Dr. C is (and I do mean truly wonderful), there is no guarantee that any of this will work. The other truth is, as a parent and primary caregiver to the most wonderful being in the world, this man is the best thing that we have found for her. Val and I trust him, and his desire to help. We believe in him. And, he believes in Sam getting better. Even if none of this works, it is comforting to know that we have given our daughter's care to someone we feel truly deserves the honor.
Until next time,
Monica
