Symptoms

So C's low muscle tone of last week appears to have been just an example of how her tone can vary greatly from day to day. Nurse P. noted yesterday how tight she was - not so much in her shoulders, but in her elbows. On the whole, I would say the efect of the baclofen increase of last week has been slight, and I don't think it has impacted the upper body much at all. Perhaps a little floppiness in the trunk - but as noted, this can vary.

The Families for HoPE network is soliciting parent feedback on a number of questions relating to raising kids with HPE, the idea being to publish a "parent handbook". One of the questions this week is "What has been the most challenging symptom of your child's HPE?" Interesting to think about because I suspect for most of us it changes with time. Early in C's life, it was the associated medical issues, especially controlling her diabetes insipidus, weighting diapers and tracking every ouce on liquid the went in or out of her body. When her sodium levels went high we would freak out with worry. But we learned that C tolerated high sodiums without obvious ill effect (in truth they never got too high, and since being on DDAVP her sodiums have been well controlled in the mid-high range). For much of her life, the most obvious symptom we have to deal with is her high muscle tone. We've tried to treat it with oral medications, baclofen, botox injections, splinting, proper supports and positioning, physical therapy, etc. Her high tone, especially in the arms seems the biggest restraint on Claire being able to manipulate her world and work functionally with switches. It is interesting to watch her as she tries to use her hands with objects placed on her tray: you can see in her face the effort and concentration it takes to make her arms do the simplest of movements - and yet she clearly WANTS to do it and is highly motivated to touch and move things. In her lower body, the high tone causes spasticity, and inability to move the legs. Over time as the muscles got tighter, she lost some of the function she had to bear weight and move her legs in a walking motion. High tone in her legs and hip adductor muscles eventually pulled her right hip out of the socket which had to be surgically realigned last year. Another "symptom" is simply size. Not that C is big - at 12 years old she weighs only 50-53 lbs and is maybe 50 inches in height. But already her wheelchair barely navigates the hallway to her bedroom. She is within an inch or two of being too large to sit in her bath chair without her feet scrpaing the wall. And it is never fun trying to find a public place to change the diaper of a 50 pound twelve year old. Underliying everything, is the "symptom" of her mental retardation. How much does C know and understand? How smart is she, really? If she wasn't so hampered by her physical limitations, what could she say and do?