I think that our van has worn a path from our driveway to the valet parking pull-up at DuPont hospital. Since April I have made two or three trips (40 minutes one way) a week to visit this or that specialist or have this or that test or procedure done for Lucy. Although we love that DuPont Hospital is there for us, we could use a break from it for just a few weeks, or if possible, a month would be even better. Just think of all of the free time and extra gas we will have, oh the places we could go and the people we could see….
Seriously, we are hoping to enjoy the next month of summer vacation and take a much needed break from the medical world (somebody,please, knock on something wooden)! Medically speaking, we have a few loose ends to tie up but nothing that can’t wait a few weeks or… ah hum…till next month (again, please, keep knocking).
Speaking of loose ends there are a few things I will update you on since I believe I made mention of some of these things in past posts. We have had A LOT of labs drawn on Lucy recently, all related to metabolic stuff. We had Lucy’s ammonia levels checked after Dr K made mention of high ammonia levels causing irritability in some of her mito patients. Lucy’s ammonia level was the opposite of high, she is lower than the normal range, not really sure what this means. What we do know is that elevated ammonia is not the cause for her irritability, not that I really believe that there is a single cause for her being irritable. Like so many things with Lucy, having abnormal labs that are abnormal are not really that, dare I say, abnormal. What we do know, is that Lucy’s labs that look at how her liver is functioning have always been a little off, and ammonia is one of those labs that indicate liver function. The liver is a large organ that requires a lot of energy to function, kiddos with mito are energy deficient and thus the liver is often one of the organs affected by this disease.
One of the changes that we made since coming home from Atlanta is increasing Lucy’s med dosing on her Leucovorin for her cerebral foliate deficiency. Since having nursing help this summer, it has been easier to remember the afternoon dosing, (thanks Helen). Have we noticed a difference in Lucy, humm…good question. I think that perhaps…maybe. How’s that for an answer? Like all things with Lucy some days/moments are better than others, it is so hard to tell with her if doing one thing has made a difference. We have been working hard with Lucy’s therapists at implementing strategies for behavior management. These strategies are helping! One of the strategies we use a lot with Lucy is the strategy first this___, then that____. So often she just needs to know what is expected of her, or what is going to happen in order to get her to comply. Lucy’s receptive ability is amazing, she understands everything you tell her! Very often she is unable to verbally express to you with words what she is thinking or feeling, hence her frustration and behavior. Add to all of this, the inability of process and take in information from the world “normally”, and…well…it’s no wonder we see in her all the behaviors that we do. I think that increasing her med dosing is helping her brain to process better, thus allowing her time to take in and approach the world on her terms.
Therapy has been moving right along. Lucy is progressing, albeit at her own pace, but progress is progress no matter what the pace. Speech and language is still our biggest delay, but she is using more words to express herself. She is starting to put the word more with something, for example “mooor yayooos” that’s Lucy talk for more Cheerios. She has about a twelve word vocabulary that she uses regularly, we are hopeful that she will expand upon this vocabulary, but it is amazing how few words you really need to get your point across. She is quick to blurt out one word and repeat it over and over consistently until she knows that you understand what she is telling you. In the not so distant past you were lucky if she said anything once, much less repeated it. Even with the hopes of her communicating verbally, we are moving forward with looking at augmentative communication devices. When we were in Atlanta we asked about speech delays in mito kids and if they had any insight for us. They stressed to us that mito is a progressive degenerative disease and we should continue with our process of teaching Lucy to use a communication device. We are hoping to trial a Vantage Lite soon. We are also looking into the the ACC program Proloquo2Go for the apple i Pad/i touch/i phone. It has many of the features of the devices we have looked at but is available on technology that is more universal and at a much more affordable cost.
We had an evaluation for aquatic therapy last week, we are all anxious to get Lucy in the pool. It has been proven that exercise is beneficial for kids with mitochondrial disease, but ever so challenging on so many levels. Therapy in the pool helps to overcome some of those challenges, and creates some new ones as well, but we feel the positive will out weigh the negative. We are waiting on a pool slot to open up at DuPont so that we can get going with this, hopefully something will open up soon, preferably on a Monday or Tuesday morning:).
We had Lucy’s walker fitted for new handles which help her to push it easier and also improves her posture. Combine that with her new leg braces, and lets just say she is working at finding her stride. Her new orthotics are more supportive and wrap around her ankles and legs more than her old ones did, she is having to get used to wearing these.
We have not received any information back from the sleep study we did last Wednesday. They told us that we should have the results in two to three weeks. Seriously, they only have a few hours of data to analyze. Dr R said that he would follow up with us as soon as he knows anything. One of the things we are looking for is to see if Lucy is experiencing any central apneas, this is when the brain forgets to tell the body to breath at night, thus causing her to wake. They were also interested in monitoring Lucy’s Co2 output, heart rate, and respiratory rate. Mito kids do not covert oxygen into energy correctly, combine this with hypotonia, weak muscles, and to put it simply this can be a problem.
A few weeks ago Lucy had a barium enema test to rule out the possibility of any abnormalities in her colon. This was never a test we had done on Lucy, so Dr. R felt that it was a long shot but necessary test to have done. If in fact she had any abnormalities, Dr R informed us that there are some treatments that could be done to fix the problem. Fortunately or unfortunately depending how you choose to look at it, there were no abnormalities detected. What has resulted since doing the procedure is one almost “regular” little girl. Because they injected A LOT of barium into our little one we were very proactive with using enemas and laxatives to get rid of the barium in her system. Barium turns into concrete if left in the body too long. Lucy was cleaned out, and ever since has been going at least every other day with the assistance of Miralax! You can cheer for this, we are!
We had a very detailed appointment with Dr R last week and discussed with him our visit with Dr. S’s group in Atlanta. We feel for the first time in Lucy’s life that we are in the right place medically speaking for Lucy! We have a great team of specialists that are overseeing the care and treatment of the littlest love in our life. This is a huge blessing!
Medically speaking, I think I have updated you on all of the medical events of the summer. Thanks as always for your thought and prayer, love and support!
PS I took these pictures in the spring and love them, just thought I’d share.