13 weeks ago today, I posted this:
The rest of the roller coaster has been in regards to Alex, his less then stellar health these days, and the hope this medication brings. I cannot begin to explain to others the emotions that come with being the mother of a child with Mito. Not only is it a disease that could take my childs life at any moment, but it is also a disease that has no way to fight it. With cancer you are given odds and a plan of attack. With mito you have to sit back and watch your loved one fade away while you do nothing. It is a helpless feeling. Enter EPI-743...This medication may do nothing for Alex or it could change everything. It is so hard to not be hopeful and so scary to let our hopes rise and possibly have them dashed. As I have watched Alex struggle over the last 2 months, I have worried. He doesn't have his usual spunk, he is losing weight, he doesn't feel good. And so I hope, I hope for a fighting chance. A chance that starts tomorrow...
I sit here today unable to believe the difference we have seen! Alex is full of life sometimes so much so he drives me crazy. He is feeling good. he has put on weight. I came into this trial with hope, but our realistic expectations were that on a cellular level this would make a difference. We did not think we would see the visible changes we have seen. Alex had his repeat brain spects and the results are incredible! Alex's first spects showed "diminishement" or problems. The scans done yesterday show a 50% improvement. This makes Alex one of the best responders to the drug. We are amazed. These results validate the clinical changes we have seen and give us so much hope!
Dr. E thought he walked into the wrong exam room on Tuesday! He was so happy with the changes. He does feel like we need to satrt Alex on a medication to help his liver. Him and Dr. K will discuss doses and work on getting that going. We will need to come out here a few times a year to follow up with Dr. E unless the FDA changes there requirements, but we are allowed to stay on the medication!!!
In other news...We received some news from the genetic testing we had done in July. We did not get as much information as we had hoped. Dr. K does believe we have found the cause of Alex's seizures, but not much else.
Please pray for safe travels for Alex and I tomorrow.