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.

HPEKid's first day of school was yesterday. Went fairly well, although we got no communication letter home at the end of the day. For the first time, neither HPEmom nor I went in to school on the first day. Claire really lit up getting on the bus, but was totally exhausted upon getting home.

Summer went pretty well. She did 5 weeks of CYO Daycamp and 4 weeks of ESY (extended school program). We traveled to Maryland for a week to visit family and hang out at Aunt Sarah's pool.

HPEkid also got a ceiling lift and track system installed in her bed room. The track carries her straight into the bathtub. For the most part HPEkid enjoys the ride, although bathing her is still not an 'easy' thing. Haven't got the nurses used to using the lift regularly, and in truth, we don't use it for all transfers to her chair and bed. Pretty much it is just used for bath time. Still, it is there if we need it.

Following a nutritional analysis in June, HPEKid is now on a more appropriate diet, switching from Pediasure to Jevity. Her endocrinologist was concerned about lack of weight gain over the last year.

The other medical development this summer is that HPEkid's scoliosis has progressed significantly in the past several months. We think it may be the cause of much of her discomfort and refusal to sit up in her chair. Her X-ray from last week is here. So she has been fitted for a back brace which should arrive in Spetemeber. The goal at this point is to prevent the curve of her back (currently at 39 degrees) from getting worse. No surgery at this point, thankfully.

Botox Dangers

Saw this article today about a girl with cerebral palsy who died of pneumonia after receiving botox injections for her spastic muscles. Her parents sued Botox maker, Allergan, saying that an overdose of Botox caused weakened the muscles controlling her breathing. I won't debate the legal decision, although I would tend to agree that the drug manufacturer isn't at fault and so many other factors are at play when you have a fragile kid with CP and pneumonia. It just makes me stop and think. When HPEKid gets her botox injections Dr. S. always warns us to watch for labored breathing and makes it very clear that respiratory problems are a risk. With this article however, I am surely going to verify the dose that C. is receiving. Anything over 8 units per kilo of body weight is considered an overdose by the manufacturer. We've been feeling lately that C's botox seems to be wearing off more quickly and have less effect on her tight muscles (she gets Botox in her pectorals and biceps), and have been wondering if we should/could increase the dose. Complicating things for C., is that she also has the implanted baclofen pump delivering a different muscle relaxing drug to her lower extemeties, and labored breathing is a potential concern with balofen overdose as well.

Botox

So last week HPEkid went to Dr. S for botox injections in her pectorals and biceps muscles. We've been doing rounds of botox every 3-4 months the hope being to release the muscles that make her arms so tight. Botox, of course is the toxin, used in small doses to temporarily paralyze muscles. It's used to treat a number of conditions, and recently is used cosmetically to reduce wrinkles and lines that come with aging. The effect is temporary and must be repeated. In HPEkid's course of treatment she gets a total of 16 small injections; 4 in each pectoral muscle (upper chest just under the arms) and 4 in each biceps to aid with elbow extension. You'd think a 13 year old undergoing 16 injections would be painful, yet HPEkid normally endures it with barely a grimace. Today she was absolutely giddy, and while she sometimes winced at the initial prick of the needle, she giggled and laughed throughout the session. A resident who was following Dr. S today was amazed. Nice to have a happy kid at the doctors office!

What they learn in Med School

Every so often I search the web for 'holoprosencephaly' just to see if anything new has come up. A week or so ago I came across the blog of a medical student who posted about encountering severe case of HPE in a terminated pregnancy. The baby had severe facial deformities but no chromosomal anomalies. This med student was amazed that otherwise the body was perfectly normal and was even born alive. She noted that she is unlikely to ever come across HPE again in her career. I posted a comment to her blog, just to let her know that not all HPE births are so severe and told her a little about HPEkid. The student wrote back that she never knew that HPE's could live! "We were always taught otherwise". This is pretty depressing to hear; that even in this era of so much better diagnosis and information, med schools are still teaching students that HPE = death. I totally understand that the VAST majority of instances HPE do result in death of the fetus. But doctors are trained, hopefully, to treat the living and it would be nice if they knew that there is a substantial population of HPE kids out there who do lead meaningful lives.

October Update

C has been much improved the last 2 weeks, with markedly less congestion and gagging. Of course it;s all relative. Nearly every time she lays on her back for diapering she starts to hack and cough. Nearly every evening as we sit down for dinner she begins to fuss in her chair and retch. So we normally end up taking her back to her room while we eat. It's odd really, because she can be fine all afternoon, but the instant we pull out the chairs at the dinner table, C starts crying, goes all stiff arching her back and threatening to vomit. Back in bed, lying down, she settles down and is OK. The obvious explanation is that since she can't eat, C gets upset sitting there watching everyone else eat, and I think there is a lot to this. She's obviously aware that she's missing out on something. She clearly shows interest sometimes in wanting to taste things - of course whenever we try this she gags and spits most of it out, she just can't control her muscles to chew and swallow.

Yesterday we noticed a coin-sized bruise on C's lower back above her right hip. Most likely someone (Me?) banger her into the armrest while loading her into the wheelchair. Doesn't seem to bother her. C. was also in some discomfort last night (although she slept fine), had some brown in her residual and was grining teeth this morning. Think she needs a B.M.

AM Giggles

So I woke up about 4:5am to the sound of C back in her room giggling. Hopefully it meant she had some weird dream, not that she's really in pain. She's had a rough last few weeks. Her mid-sepetember cold is still lingering. She coughs all the time and just can't seem to clear out her lungs. What's weird is that she is OK lying down (side, not back!) but as soon as she is upright she starts hacking away. All yesterday afternoon she coughed and threatened to vomit, then finally at about 7:40pm she threw up a huge amount. She was happy, but still trying to cough up stuff after that. She slept fine, though, until the laughing fit. Anyway, I noticed the residual in her stomach was yellow-ish, and she did not urinate all yesterday afternoon. Sunday was last day on the antibiotic so she should be getting better by now! HPEmom wants to get an appointment with GI doc and re-start our discussions about fundoplication. I agree we probably should do that, but just am not convinced the surgery is going to get at the route cause of things.

Not the Flu

C has had a low grade cold for about a week now. It began as her sicknesses usually do with fever and throwing up as soon as anything hits her stomach. This only lasted a day (last Friday into Saturday). Since then she's had a lot of congestion in her chest and throat, and she tends to spike a mild fever most afternoons. She coughs constantly, especially in the afternoon and night. Coughing brings up mucous and phlegm which she then has trouble swallowing, so she throws up. Lately the coughing at night and first thing in the AM can last for 20-30 minutes. The daily debate is: do we send her to school? Generally once she is up and has cleared out whatever she needs clear she is OK for the day. She started on antibiotics yesterday to treat for assumed respiratory infection. Am also concerned about urinary infection: As of this AM she hadn't peed since I got home at 6:00pm yesterday.

Beginning yesterday afternnon, and continuing through the night, C. has been acting as though something hurts. We're hearing a lot of gurgling, gassy sounds from her tummy, and she had a small BM late afternoon. It's likely she needs to poop. She rallied in the evening when we decidied to try going out to eat. At restaurants there is usually enough noise and distraction to keep C. entertained. But once home, she had an absolute meltdown, arching against her wheelchair and screaming at the top of her lungs. Night was pretty rough. I paused her night-time feeding when she was crying and grunting and grinding her teeth, but finished it later when she fell asleep. She was up a few times needing repositioning, and I gave her motrin at 3:40am. Just another of the unexplained fussy periods that C. goes through from time to time. HPEmom wonders if her teeth are bothering her.

New School Year

So yesterday was the first day of school for the new year.
Technically C. is in 7th grade and attends our town's middle school. C. seems happy to be back; she is a girl who likes her schedule, and summer is a bit disjointed with a few weeks of camp, a few weeks of vacation, a few weeks of staying home with Dad and/or her nurses. Of course sleeping in until 9AM or later was nice. Here is the new school routine:
5:30am 1st alarm, I get up and feed her breakfast: pediasure via g-tube. Then I go back to bed.
6:15am 2nd alarm goes off. This time I am up for good. Time to start waking C. Roll her over onto back and check diaper (usually dry in the AM). Prepare AM medications. Get clothes ready. After C has had a few minutes to get used to the idea of waking up, I begin getting her dressed and up into her wheelchair.
By 6:30/6:40am she's usually out in the living room, watching TV. We give her AM meds, perhaps a little more formula. Start putting on her AFO's.
6:50am and we're waiting for the bus. Supposed to come at 6:55, but these first two days it has been about 10 minutes later and I'm not complaining; extra time is good.
Then C is off to school for the day. More on her School routine later. She returns home around 2:45pm. If I'm not working, I am often here, but generally her nurse meets and retrieves her from the bus. They usually go for a walk in the neighborhood, although C has been so tired these first few days, the nurse has been taking her straight to her room for a little rest. She chills out to a movie or music for a while before going on their walk. Sister L, starting 2nd grade this year, is home around 4:00pm and generally either HPEmom or I are home by then.
So far, so good. No vomitting at school or at home, just the usual gagginess and congestion.

Discomfort

One of the more difficult things to deal with in raising a child who cannot express herself in words, is when she is in apparent pain or distress. Last night C clearly flinched and cried a cry of pain a few times when I tried to reposition her in bed. But it is so hard to tell what/where the pain is. Is it a hand or foot? Arm or leg? Is it the G-tube? When I physically manipulate her arms and legs I was unable to elicit the pain again, which makes me think it was more internal. At any rate, last night was an uncomfortable might for C. She actually slept OK, just cried out a few times. She had two large BMs yesterday, but still was having some gas at bedtime, so perhaps something bothering her gut. No vomitting which is always the big telltale sign that something is truly wrong, but we'll have to watch the pain meter.

Blood in stomach

So we've had a few days now where C has been gagging alot and coughing up lots of mucous and phlegm. It gets worse in the afternoons as she gets tired, and is particularly bad whenever she has to lay on her back - like for changing diapers or clothes. On Wednesday afternoon (2/4) she gagged and spit up a large amount and the emesis was dark brown. We checked the residual in her stomach and drew out lots of dark brown liquid. It is not unusual for C to have streaks or brown gobs in her residual, and I normally associate it with her needing to have a BM. This was different - the entire stomach contents was dark brown. Nurse says it is most likely blood, so the question is where is it coming from. We know C has a history of gastritis from stomach acids irritating her esophagus and it could be she is having a flare up of the inflamation. We did not rush to the doctor, but took a wait and see approach. The brown residual was gone by 7pm. Overnight she slept OK but seemed to be grinding her teeth a lot. Yesterday morning when we got her up for school and checked residual it was brown again and she again was having lots of gagging. The school nurse called in the afternoon to say C was drooling excessivley, gagging alot, and just not herself - even whimpering a few times. They vented her g-tube and drew out lots of frothy mucous. I went to pick her up rather than chance her throwing up on the bus. At home I checked residual and there was no blood. She had a decent afternoon, was happy and enganged with the nurse. Lots of drooling, tongue thrusting, and some gagging but not excessive. So as of this morning she is back at school. Residual is still clear of blood. There are so many things that could be bothering her. Perhaps she has a sore throat (although nurse said her throat looks OK). We know some 12-year molars are coming in and perhaps they are bothering her. Or one of her recent spit ups caused the inflamation in her esophagus to flare up. Probably all of these things. But she's not in obvious pain and as long as the brown/blood goes away, I'm not too worried. Will keep the Dr. Sahgal appointment today for Botox and perhaps another baclofen adjustment.

Medicaid and stuff

Morning began with C. doing a lot of gagging. Shortly after giving her meds and getting up in her chair she got the red-eyed, nauseous look that says "I'm gonna lose it!" Which she did. Only about a 1/2 cup worth, but then we were faced with the question of whether to re-do her medications. Ended up giving about a third of a dose of the DDAVP again, just to be sure. The log says this is the first vomit since Jan. 20th. Not bad in our world.

Saw this news item today about Medicaid. I'd just like to mention how in a case like mine, Medicaid is absolutely vital. As I mentioned here I am currently out of work and seeking a job. But given the difficulty of finding childcare for C, getting her enrolled in Medicaid and the HomeCare Waiver program to provide nursing care was absolutely critical to me being able to commit to a job when (please, oh please!) I get an offer. So here is a case where you can look upon Medicaid which pays for nursing care for my daughter as a true economic stimulus - it will allow me to look for and accept work, pay taxes, receive an income so we can resume our rightful place in the consumer society.

Octuplets

I'm a pretty even tempered guy and not easily angered. But what I am reading about the family of the California mom who recently gave birth to octuplets really pisses me off. Apparently she is unmarried, lives with her parents, and already has six other kids under the age of 7. Now, being single and living at home certainly does not disqualify one from needing fertility treatment (and of course I know nothing of the circumstances behind her living arrangements), but already having six kids? Give me a break. And it is also reported that the fertility treatment she had involved implanting 8 fertilized embryos when the norm is 2 or 3. Sounds like malpractice to me. What pisses me off is that we will now see an outporing of donations and support from all over the country to help this family out. And setting aside the cost to a family , of whatever means, involved in raising 14 kids, these eight preemies are going to need lots of medical and developmental attention at taxpayer expense. If Extreme Makeover Home Edition builds them a new house I think I will scream. To be honest, what really bothers me the unfairness of it all. This family now has a great need due to a choice they made and now because of all the notoriety, they will surely get their needs met. No one is rushing forward to build us a new house. That's not very mature of me, but it's how I feel.

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?

Watch the tone

Today, it feels like C's trunk and upper body body are a bit more loose and floppy than usual. Sitting in my lap, she felt like a wet noodle, with absolutely no tone in her back/upper body. Having just increased her baclofen dose to 145mcg on Tuesday, we need to watch this. It could be that we have reached the limit to how high we can take the dose. Or it could be she was just tired this evening. Will have to alert her teachers and therapists and monitor over the next few weeks.

New Nurse

A new nurse started working with C. today, taking the Wednesday/Friday shift that we lost when one of our other nurses resigned. C. just loves it when she gets off the bus to find a nurse waiting for her - she know she will get extra attention.

Getting nursing set up for C. was a long drawn out process. As I neared completion of my masters degree this past year and in anticipation of going back to work full time, we began to panic about finding childcare for C. Her needs are not particularly acute, and the nursing aspect is very easy; just g-tube feedings, medications, monitoring skin breakdown, and doing some range-of-motion. But it is impossible to find 'regular' child care to take her. We had been on waiting lists for all the appropriate waiver programs available in Ohio, which is difficult to do since no person or agency tells you the same thing. So in February I began calling our case workers and pleading our case. In March we got alerted that a slot had come up on the Home Care Waiver - so we began the paperwork to get her enrolled. She had to have an intake assessment done, after which the intake manager said she was not sure C would qualify since she did not have an 'unstable condition', but that she would try. We waited in limbo for months,and finally as graduation and the end of my summer employment approached, I again began to press our case. In the end, C was granted a slot in the Ohio Home Care Waiver program. Terms of the program are the she must have licensed RN's serving her - not just aides. Then we went through months of registering with agencies and seeking nurses to provide care in our home. Between a friend of HPEmom's, and two nursing agencies, we know have 3 nurses who split the week with C, generally covering her from 2:30 to 6:30 every day (and on school holidays when needed. Now it seems odd to have strangers in the house taking care of C, when we are often sitting right here. But now that things are in place, I feel more confident about accepting full time work. Now if the economy would just help out a bit...