Update

Back in January I posted about the strange episodes of discomfort HPEkid was having and our struggle to determine the cause. Through January and February we really didn't come up with any answers. Her spells of distress, leg tremors, and extreme tightness in her arms and upper body came and went several times, although never as powerful as they were in early January. However, blood work from those January doctor visits did show elevated serum sodium levels (153), so Dr. R (endocrinology) increased her DDAVP dose. It sort of made sense that perhaps HPEkid had just outgrown her DDAVP dose; she had been on the same dose for probably 5 years. But a week later her sodiums were still high. We increased DDAVP again (to double her prior dose) and they went down to 148, still high but going in the right direction. We tried to rule out a urinary tract infection and an initial urine test indicated high white blood cells, but further tests came back normal. One odd feature is that when HPEkid is having her 'episodes' she seems to hold in her urine - doesn't void for 18-24 hours, then lets it all loose in a real soaker. A couple of times the docs were unable to get urine samples even with a catheter.  This pattern doesn't really make sense to me in relation to her DI and sodium levels. If her DDAVP dose was too low she should be voiding heavily and frequently, flushing water from her system and causing the elevated sodiums. But if anything she was doing the opposite (holding on to water) and her sodiums were still spiking high. I still haven't heard a good explanation of this. 

Anyway, in March, after a few days without any episodes, her shaking and pain returned. HPEkid went in to see Dr. J (orthopedics) to check on her back brace, but also because it her left leg was clearly causing pain again. This time the x-ray revealed a fracture in her left tibia up near the knee. Dr. J said it was already about 80% healed so it was not a 'new' fracture. He made a splint for the leg to limit movement, mostly for her comfort. So now we have to fight with a scoliosis brace and a toe-to-thigh half cast on her leg! I guess it is pretty common for non-weight bearing kids to develop soft brittle bones that can break easily from simple every-day actions, so we are going in next week for bone density scans and have started calcium and vitamin D supplements. We hope the leg is the root cause of all HPEkid's recent discomfort. She is still having days where she seems uncomfortable and will have leg shaking and tightness, but lately it has not been to the extreme that it was earlier in the year.  But I am not entirely convinced that we have found the real culprit.  

These days HPEkid seems to cycle between three states: 1) significant discomfort and pain, leg tremors and pumping or lifting of the left leg, and generalized muscle tightness 2) when this passes, she goes absolutely limp, totally exhausted, sleeps deeply for a long time barely waking even to change diapers or dress, and 3) what we call 'normal' where she is happy and alert but moderately tight.  Oddly, through all of this, HPEkid's reflux and vomitting is not really a factor.  That is, it's not any better or worse than normal. Sometimes we've seen some brown fluid in her residual, possibly blood, but not enough to say it always coincides with her 'episodes'.

On top of it all, I have just started a new job and suddenly have less time to run her around to her different doctors.

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?