It’s been so long since I last posted that I can title this post the month of June. I originally set out to write a post about the UMDF’s annual mitochondrial medicine symposium that took place in Chicago two weeks ago, I am still working on that one, in the meantime I feel the need to catch you up on all of the other happenings in our life.
In an effort to just get it all out of my head, I am going to randomly write in list format….
The kids are all finished with school for the summer…still can’t believe that. Our school year ended on June 16th, almost a week late due to many snow days. In the fall, Jack will be entering 5th grade, Megan will be entering 3rd grade which in our district means that she moves on to the big intermediate school, and Sophie will be starting Kindergarten, really.
We attended the UMDF’s annual mitochondrial medicine symposium in Chicago a few weeks ago, I will post soon about the conference, but let me just say it was an amazing experience again. Up until a few days before we left we were not sure whether or not we were actually going to be able to go, it was up to little Miss Lucy to make the call. She was acting “off” here and there just days before leaving and that always keeps us on the edge of our seats. Just 24 hours before leaving, we took her back to DuPont for yet another GJ tube placement. Yep, if you recall she only had that tube for five days, it had most likely migrated out after a day or two(which was Friday or Saturday), but I waited until Monday to schedule her a new tubie, which couldn’t be done until Tuesday. A new tube was placed, dozens of bags packed, medical supplies galore were arranged to be shipped and some transported with us, our van cleaned…well sort of, excusal notes for the kids to be dismissed from school at noon on the 15th were written so that we could allow enough time for the 14 hour drive to get to Chicago by the 16th, and off we went but not without stopping on our way out of town to have the oil changed in the van that had not been done since…umm, Thanksgiving. We have had a lot on our minds recently, obviously none of which includes car maintenance.
While at the conference we learned more about a new mito drug from Edison Pharmaceuticals, EPI-743. It was announced just before the conference that Edison Pharmaceuticals had been granted expanded access from the FDA for this drug. The FDA recently changed the criteria for which a patient can be eligible to participate in the study (click on the highlighted area for eligibility criteria). Specifically, they removed the need for a confirmation of a genetic mutation which confirms a mitochondrial diagnosis. Most mitochondrial patients do not have a confirmed genetic mutation, technology has not caught up with science and vice a versa, lifting this restriction has opened up this drug trial to many more critically ill patients. To define critically ill, “you need to be deemed by the principal investigator (PI) to be within ninety days of end-of-life hospice/terminal care”. As much as we hate the way this is worded, Lucy meets this criteria due to her being in intestinal failure and her 100% dependency on TPN. Drew and I had an opportunity to meet with the PI for the study and briefly discussed our girly with him. He highly encouraged us to send him her medical information. We have several huge hurdles we will need to jump in order for Lucy to qualify, one her abnormal hematocrit, two her very elevated liver enzymes, and three the fact that the med needs to be administered via the GI tract with fat, aka food. After discussing all of this over with Dr. R we all agreed that it’s a long shot, but a shot none the less.
While away in Chicago, Drew and I celebrated 13 years of wedded bliss…ok, maybe not all bliss, but it has been amazing and continues getting better and better. We are well aware of the statistics for marriages who have a child with special needs and are proud to say that we work hard at being in the minority.
Our trip to the windy city didn’t last as long as we had hoped, for many reasons. We left town on Monday afternoon ironically after dropping our nurse Helen off at the airport. We were wondering who would get home first she or us…she beat us by about six hours. On Tuesday afternoon, I took Lucy to DuPont to have her GJ tube looked at, it was in position but clearly something was wrong with her belly. On Thursday we brought her back to DuPont to see Dr. R to discuss some issues and talk about the study. Labs and cultures were done, antibiotics were changed to cover some of the new bugs in her small bowel, as well as another IV antifungal to kill the yeast that is persistent.
Drew took the week off and we spent some much needed time as a family combining fun with daily responsibility. We took the kids during the middle of the week to Dutch Wonderland, a local amusement park. Upon leaving Give Kids the World, we were given a farewell gift, a one year family pass to any amusement park in the International Association of Amusement Parks and Attractions. This gift was given to wish families so that they are able to “relive many of the memories created” during their stay with GKTW. Many memories were had by all!
We ended our vacation week with a private showing of the Cars 2 movie in 3D, courtesy of the Mid-Atlantic Starlight Foundation. The Starlight Foundation is an organization that our family has been privileged to be a part of this past year, we are truly amazed with what they do.
We are looking forward to lazier days…really I mean that, curling up with some good summer reads, lemonade stands, ice cream treats, sprinklers and slip–n-slides, movie nights which hopefully lead to sleeping inn, local adventures, picnics in the park, bike rides, evening walks, pool days for most and dipping our toes in the water for some, but most of all making lasting family memories.
Thanks for all your love and support, thoughts and prayers. We appreciate them all!