May has been a busy month for appointments, activities, meetings, and random things that don’t normally occur on our calendar but have this month for one reason or another. We have had A LOT of appointments recently, so many that I made the decision to cancel one of them this week. We were scheduled to meet with a new GI who has some experience with mito, but after thinking about it, Drew and I felt that we could hold off on seeing this specialist just a little longer. In all honesty, the thought of retelling Lucy’s lengthy medical history to a new specialist was just too much for either of us to take this week. Going to appointments for Lucy is not like taking one of our normal healthy kids to an appointment. What I mean by this is that you don’t just go, treat something, and then come home and resume your daily living. Appointments for Lucy consume every ounce of energy and brainpower that we have. We don’t just leave appointments for Lucy and go on with daily living, daily living is what gets altered after we leave these appointments. Lucy has a chronic progressive disease that has no cure… yet, we understand this. However, somewhere deep down inside I am silently hoping that one of her many doctors will say to us “we can fix that”. It is different going to appointments with a chronic child who has a progressive degenerative disease.
Weight gain has been a life long battle for Lucy. She has not gained in several months, and now we are talking about what we are going to do if this continues. We are considering trying Erythromycin to help speed up her motility. Erythromycin is an antibiotic that has the added benefit of speeding up motility. We are fearful to mess with the bug world by using a common antibiotic when we don’t really need it to fight off any infections. It will destroy all of the good gut bacteria that we have worked so hard to provide her through all of the breastmilk. For right now it is an option, and options mean that we still have another choice. We are hoping that by getting Lucy’s bowels emptied more regularly we can increase her feeding rate, and in turn give her the extra calories her body needs to grow. I am thrilled to say that after over a month, we have our girly going almost daily this week! Yes I am celebrating this, you would too if you were using three times the daily dosing of Miralax to get your little one to produce any results. I could say something cliché like it’s the little things, but this is HUGE so that saying just doesn’t apply here. I have been playing around with her feeding rate, increasing it at times when I know she has been off of her pump for a while and has had time to digest, and decreasing it when she is showing signs that she has had enough. This week we are not seeing the bile backup in her tube that we were seeing last week. Lucy was “off” last week and we could not put our finger on what it was. Whatever it was it appeared to slow her entire body down, digestion and all.
Our road to getting a diagnosis has been a journey to say the least. We have a mito diagnosis, but no genetics which tell us where a mutation exists. Mitochondrial disorders can either be primary, which is what Dr. Shoffner believes Lucy’s is, or secondary meaning the mitochondria are affected as a result of another disease. In order to rule out the possibility that Lucy could have a secondary mitochondrial disorder due to some other unknown genetic disease we went to see a geneticist at DuPont, different from our metabolic geneticist. We did this based on the recommendation of Lucy’s metabolic doctor at CHOP. At first we thought why should we do this, but after talking it over with Dr. R we agreed that it was worth our while. We all think that it is a shot in the dark if it is something other than primary mito, but testing Lucy’s blood for any other abnormalities that fit her list of symptoms seemed relatively simple compared to all of the other testing she has had in her life. Lucy is so used to lab draws that she knows and understands that she has to do them, but know she does not like it! When it’s all over she expects not just one sticker, but as many stickers as her little hands can hold for the torture that she has just had to endure. The ladies at the DuPont lab who have drawn a majority of Lucy’s labs are so loving towards our girly, they would give her the entire sticker basket, that is if I would let them. This time they even threw in a roll of pink tape that Lucy cried for, what can I say… adhesive products make our girl happy.
On Tuesday we spent the entire day at DuPont. It was a very productive day as far as appointments go. I mentioned earlier in this post that there is no cure yet for mito, but we have things that we can do to help alleviate some of the symptoms. Doing everything we can to make Lucy’s quality of life a little better is worth every minute we spend discussing options for her at all of these many appointments. We began our day at 8:30am in orthopedics where I kept hearing Jack’s voice in the back of my mind saying to me “Mom it is better to be patient than proud” he has been learning about this. “Really?”… I kept thinking to myself. I tried my best to be patient but we did not get called back to a room until after 10:00am and we had another appointment scheduled at 10:30 with augmentative communication, an appointment that we had been waiting for for over five months. Lucy had her hips scanned first since it had been over six months, and again we learned that they are shallow. Her new ortho, Dr. G , told us that he does not recommend surgery for Lucy. That was a relief to hear since we didn’t even think that was an option. Really, the only thing we can do for her is to continue to keep up her muscle strength, aka more therapy. He did not agree with hip bracing Lucy at all since it would take away from her hip muscles doing any work, I guess we can send the orthotist back the Squash hip bracing system, yeah. He does want Lucy to be casted for a new pair of orthotics, he wants her to be using a wrap around DAFO from the Cascade Company for more stability. Lucy’s PT and I had already discussed the need for new braces for Lucy and we too were looking at Cascade braces because they are made of a super light weight plastic. He commented on the severity of her hypotonia, saying that she is more severe than moderate, and also how she is weaker on her left side than her right. He noticed this right away, something we have been wondering about all of her life. Again we don’t know why she is weaker on her left side, but he noticed it too and so that clears up another question in our minds.
Next on our agenda was our long awaited appointment with augmentative communication. I will write about this in a separate post tomorrow as this is getting to be quite long, and…well… frankly our augmentative appointment deserves a post all it’s own!
Thanks for reading this far, it’s late and I am going to bed.