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.

Happy Birthday!

Fifteen years ago today, we became parents!

HPEkid made her debut amidst a whole lot of fuss and uncertainty.  We knew so little about what she was going to be like when she was born.  We didn't even know if she would live for an hour, or a day, or a year.  15 years later, here we are.

Losing Brandon

Over the past few years I have for the most part dropped out of the Holoprosencephaly support community.  After setting up and running an email message board for a few years, I have slowly found myself posting and reading less frequently.  As day-to-day care for our HPEkid became more routine and other aspects of our life began to take over I have really lost touch with most the families of children with HPE who I had come to know in the early 2000's. Last night, via Facebook, I learned of the passing of 13-year-old Brandon. Brandon was the first other child with HPE my wife and I had ever met.  We were living in Maryland (this was probably around 1999) and had at that point made email contact with perhaps 3 or 4 other families from across the country.  We learned that Brandon and his mom would be coming to Baltimore to see the HPE experts at Kennedy Krieger institute, so we drove an hour up I-95 after work to meet them.  Brandon was just a baby, definitely under one year of age, and there were some physical differences in how his HPE expressed itself, but it was so uplifting to see another living child when so much of what we were reading about HPE was truly dire.  He shared our HPEkids engaging smile and we instantly felt a connection to Brandon's parents; the camaraderie of knowing we were each going though similar experiences.  We met Brandon and his family two more times, at HPE Conferences held at NIH in Maryland.  I'll always remember him showing up in the hotel lobby one night with his wheelchair tricked out as an army tank.  Now, it has probably been 6 years or more since we've spoken to Brandon's parents and really been up-to-date on his life. So last night, after learning of Brandon's death I went on the HPE group discussion board to post a comment.  I did some searching of the archives and found that another of the very first living HPE children I ever knew (Zuzu Smith, from England whom we never met in person) had also died some years ago.  I had come to grips early on with the fact that children with HPE can die from any number of complications early in life.  But it is sad to learn that some of the "old guard" children, whom we met in the early days, have also passed.  We've become complacent, I suppose, feeling that our HPEkid is stable and will remain this way forever.  This news brings me back to earth to face the fact that HPE and it's attendant complications can always throw surprises our way. 

When she can't tell you what hurts

It's a new year and time to re-start this blog.

Spent much of the day at Children's Hospital trying to figure out what is causing HPEkid's latest bout of discomfort,  Since Friday night she has been in obvious distress. Saturday was the worst; she was uncomfortable in almost any position, but especially upright in her chair with back brace on. Her legs were shaking and tremoring almost constantly, especially on her left, and she was lifting and pumping the left leg (which normally she is pretty much unable to do). Her arms have been pulled back tightly at the shoulders and hands clenched.  Her face has been flushed and she is sweaty and hot, but not like a fever, just seems hot with being so tight and the effort of straining against her brace/chair.  Something feels different to me about putting on her brace, somehow the shape of her chest/ribs/hips feels different.  She sometimes laughs, almost manically, but then goes into a look of real concern/fear.  Little things set her off and seem to startle her.  Sometimes when lying on her back she will clutch at the air with her arms and vocalize, eyes large as though she's afraid of something. Her temperatue has been around 100.

 So today we got in to see Dr. S. who manages her spasticity. One of the first suspects when she is so uncomfortable and tight is that her baclofen pump may be malfunctioning and she could be in baclofen withdrawal.  Dr. S. manipulated HPEkid's legs and while she grimaced a few times, she also laughed often, but was clearly not herself.  Clearly her left leg and side were causing more discomfort than her right.  He ordered a series of x-rays to assess the pump connections and to look at her left hip, knee and leg. And he programmed her pump to deliver a high dose bolus, a quick shot of baclofen so we could watch for some response to further indicate whather the pump is functioning properly.  While waiting for x-rays, I felt it was pretty clear that the baclofen bolus worked - her tremoring diminished and she was sitting much more comfortably for the 2 hours we were there. Everything looked OK on the x-rays.  Pump and all tubing was connected and in place. Hip and pelvis all looked unchanged from other recent scnas she has had.  So we are fairly confident there is no pump or acute orthopedic issue.  The one thing noted on the x-ray was that her colon is quite full and she may be constipated. So for now we are going with the constipation theory. We will go in on Wednesday to her PCP to rule out any other underlying illness or signs of infection.

It is so maddening and frustrating as a parent, when you know your kid is in pain and just "not right" but cannot tell what is wrong.  And it must be doubly frustrating for her to not be able to tell us where it hurts.