New Findings, New Questions, New Treatment

Faith’s muscle tone has been a concern of ours for quite some time now. It makes her uncomfortable and is affecting her ability to make progress in many areas. Faith has very low tone in her trunk and neck and tends to have increased tone in her extremities. She struggled even as an infant being restrained in a car seat probably due to many factors including reflux, sensory issues, etc. but it seems that the muscle tone also has always played a big part in her being uncomfortable.

We started her on a medication over a year ago called Baclofen. It has helped a lot with the extreme crying episodes but Faith continues to have issues with excessive movement and muscle tone. If you watch Faith in her kid kart, lying on the floor, or even while she is being held she moves constantly. She really has no control over this excessive movement and it seems very frustrating to her at times. The movement is making it harder and harder to get her into her AFOs (ankle and foot orthotics) and keep her in them. We have done several modifications to her AFOs but she still manages to move her heels out of them. Since Faith cannot stand on her own, the AFOs are crucial for Faith to be able to get into her stander and get weight-bearing activity. After many visits to the orthotist and many different attempts with her PT, we decided it was time to see her physiatrist (physical medicine doctor) again.

Going in we knew that Faith’s feet are basically in a constant state of plantar flexion (toes are pointing down) and that we might need to look into other treatment options. After the doctor examined her, she mentioned that Faith seemed even tighter than before. Since the Baclofen doesn’t seem to be helping with this the recommendation was to try Botox. Faith would get the Botox injections in her calves which would relax the muscles and allow us to get the AFOs on her feet properly. We could get a really good stretch and hopefully get her feet into a neutral position. The only real down side is that if it works, Faith would probably need injections every three months or so as the tightness will return. Only a positive note, side effects appear to be pretty uncommon and minimal.

We are feeling that we really need to do something at this point to get Faith into her AFOs. Without a proper fit, Faith will not be able to get into her stander and not get the weight-bearing activity that is so crucial for her bone density. If we wait it out, things will probably just get worse and make it even harder to address this issue.

The physiatrist also recommended that Faith see an orthopedic doctor as she will need x-rays of her spine and hips. Since the muscles affect bone growth and Faith is not standing or walking, Faith is at risk for problems so we will need to keep a close eye on things.

After our visit with the physiatrist, we had a neurology appointment coming up. Often times, concerns/issues overlap with these doctors so the tone, Botox, excessive movement, orthopedic concerns, etc. were automatically added to my list of things to discuss with Faith’s neurologist.

Faith’s neurologist agreed that we should move forward with the Botox and that Faith should be seen by an orthopedic doctor. Faith had an MRI about a month ago that was actually ordered by a different doctor in which we are still waiting for a call back from. The MRI results were on my list to discuss with the neurologist because I figured he already saw the report and films since it is in the hospital computer system. He mentioned it before I even got the chance.

So, the MRI revealed that Faith has spots or lesions on the white matter part of her brain. These are referred to on the report as white matter hyperintensities. So, of course this finding leads to many more questions!

According to the neurologist, these spots are commonly seen on the MRIs of people who have strokes, multiple sclerosis (MS), Alzheimer’s disease, or cerebral palsy (CP). Right now, Faith’s neurologist believes the cause is most likely cerebral palsy. However, the spots are not in the part of the brain that he normally would see them in children with CP. These spots are typically seen in the area of the brain that controls motor activity. This leaves this mama with even more questions!

If you watch Faith for even a short period of time, you will see the characteristics of CP. The issues with her muscle tone, the rigidity, and the uncontrolled excessive movement all point in that direction and it is not surprising to us that it would be causing the spots. In my mind, I have felt that CP would most likely officially or unofficially become a “sub” or “secondary” diagnosis at some point. I guess now more than ever we can say so. I don’t like to get caught up in the whole diagnosis or labeling thing but if it helps direct therapy or treatment then it will be beneficial. Faith already has a primary diagnosis (SOX2) which is manifesting in many ways that we continue to discover as we go. Even Faith’s neurologist said ” Faith has so much more going on than just CP.” Our cooperative goal is to treat what we can to help Faith be comfortable and give her the best chance at making progress. With that in mind, we are adding yet another medication. We are hoping that Clonazepam will help with Faith’s excessive movement. After barely being able to bend Faith’s body to get her into her car seat and hearing the bloody murder screaming the entire ride home from the appointment, it was a reminder about how bad things can get and made me feel that we are doing the right thing by giving the Clonazepam a try. We are on a trial right now to see how she does on it. I have not noticed any big changes yet but time will tell. One of the side effects is that it can be sedating so we are starting slow. So far it doesn’t seem to have that affect on Faith.

In terms of the MRI, as hard as it has been in the past to get my own copies of things for my records I was determined that I was not leaving the hospital until I had something in my hand or at least placed my order. This way I could have direct contact with a person and tell them exactly what I wanted. Thankfully, there was a nice guy working in radiology and helped me order the films and I even left with a copy of the MRI report in hand! No wasting time on the phone with screaming children in the background and no empathy from the person on the other end of the line!

I left with the report in my hand to read myself and soak up what it really says. Of course, after translating all the medical terms!

I just have to say that it is amazing to me at how subjective reading an MRI seems to be. We have gone through this before with previous MRIs but seriously it really seems that the interpretation varies so much depending on the doctor doing the report. There are many inconsistencies in terms of what is normal or small if you compare all of Faith’s MRIs. Ok, so is her pituitary small or not people??? What about the corpus callosum that appeared thin on the last MRI? Now, it’s normal-really? I guess to sum it all up there are some questions that may never be answered because the doctors just don’t know. The function of Faith’s brain will probably always be a mystery to a certain extent. I respect the doctors the most that just come out and say that they don’t have all the answers. I appreciate their efforts to help Faith and our family the best they can and meet us where we are on our journey of raising our super special little girl!

Keeping the faith,

Bridget