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?

Baclofen

A bit of background:
Baclofen is a muscle relaxant. It can be given orally to reduce high muscle tone and spasticity, but in oral form, the drug causes drowsiness and affects tone throughout the body. We tried oral baclofen for a while but a) never really saw much change in tone, and b) did want to do anything to compromise her few strengths - head control and sociability. In the Summer of 2007, C. was scheduled for surgery to her right hip (another post) and we decided to have a baclofen pump inserted at the same time. The pump is a device that delivers the baclofen directly to the spine - which means you can give much smaller doses and, depending on where you place the catheter, target only those muscles below the insertion point. In C's case we are targeting only her legs. I will save discussion of surgery and the hospital stay for another day - suffice to say C had the pump implanted in July 2007, went home 10 days later, but developed dramatic swelling around the surgical site, which eventually had to be drained via syringe. Some time after this, the pump actually flipped over in it's cavity beneath the skin which twisted the catheter to such a degree that the baclofen was no longer flowing. The pump had to be surgically revised in March 2008. Since then, she's been soing fine. Slowly increasing the dose and delivery rate of the baclofen. We have to say that in C's case the results are not particularly dramatic. Her legs and hips are significantly looser than before, making it easier to change diapers and get dressed. But at times her tone still kicks in, espacially if she's sick, in discomfort, constipated, or just plain mad. Baclofen is not, for us, a miracle drug - she's not suddenly able to sit or walk or anything (and we did not ever hope for that). It's simply another tool we use to manage her symptoms and try to make her life (and ours) a bit easier.

Birth

It was February of 1996 when HPEmom and I first learned that there was something wrong with the pregnancy. We had had ultrasound exams earlier in the pregnancy and all seemed to be going well. After a visit to the OB, we were sent for another ultrasound because the OB felt she was measuring small for the date. This ultrasound showed the baby's head to be smaller than it should be and there was a dark mass in the back portion of the brain. Several ultrasound exams later we had few answers. There appeared to be a fluid filled cyst in the back of the brain. Some docs disagreed on the exact position of the cyst, and we were given several preliminary diagnoses: from Dandy Walker formation to porencephaly. We carried on for two more months, digesting as much information as we could. At 39 weeks, HPEmom went for her last weekly checkup and was told that most of her amniotic fluid was gone (her water had never broken - so this meant distress on the baby). C was born by C-section that evening.

C was a perfect little baby, just under 6 ponds with perfect facial features and a slightly small head. The early days in the hospital and then at home were as routine as it can be for first-time parents. About 2 weeks after she was born, C had an MRI at Children's Hospital in Washington, DC. The MRI finally gave us some answers. C had a brain malformation called Holoprosencephaly. Basically a failure of the brain to fully separate into left and right hemispheres. The initial literature we read was depressing, saying that few children born with HPE lived beyond the first month. But we also learned that most literature pertained to the most severe forms of HPE, and C did not appear to fall into that group. We took her home with instructions to let her tell us what kinds of child she was going to be, rather than relying on the medical literature.

In those first months we learned that among the affected areas of C's brain were midline structures that control hormone production and regulation. She was found to have a cortisol deficiency and diabetes insipidus, and was put on hormone replacement, probably for life. To this day (Age 12) these remain her only daily medications. Other than this, C was a rather normal baby. We took her infancy day by day, not knowing what if any developmental delays she would eventually show.