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...

Baclofen

Took C. to the neuro-developmental center for a doctor's appointment to refill her baclofen pump and adjust the dose. We were cutting things pretty close, with the alarm date on the pump only two days away. Her last dose adjustment was in October at 130mcg/day. Today we went up to 145mcg/day. We continue to increase the dose gradually, trying to achieve maximum reduction of tone in C.'s legs without compromising trunk stability or head control. While overall, her high-tone is much improved since last year, she continues to show intermittent extension in the legs and occassional bouts of tremoring, especially when uncomfortable. Head control and alertness seems fine so we continue to up the dose.

O-BA-MA!

I am so grateful that my kids, especially 6-year old L., will grow up in a world where it is no longer a question whether a black man will ever be president! For me it is a momentous thing. For her it will be a given. Now, the real work begins.

5 Degrees

It was about 5 degrees this morning as I wheeled C out to the bus in the half-light of early morning. The little trooper handled it fine. I considered taking her to school myself but figured that she would probably end up spending MORE time out in the air if I had to unload her in the school parking lot.

Today

We overslept by a few minutes this morning, which is only a problem because C has to be ready for the school bus to arrive before 7AM. That is so @#$%ing early! We generally cut it pretty close, so losing a few minutes can be a big deal. It takes C a few minutes to wake up and become alert. Also she quite gaggy first thing in the morning, and while she rarely vomits it is always a danger. We generally do not have to change her diaper because lately C has been dry upon waking - she generally voids later in the morning (this is the only time in the day when her toileting is predictable). But still, getting dressed, giving meds, getting into AFO's and bundled up into coats and gloves and into her wheelchair all takes time. At any rate, we made it on time this morning.

After school, C enjoyed her afternoon with Nurse Peggy. We sent the nurse home early because of heavy snow. Then towards dinner time, C began to cough a lot, with moist, juicy coughs. We put her in bed with a DVD to settle. At bed time, I rolled her on her back to change clothes, which set off a round of gagging and coughing, and she brought up a wad of phlegm. As I sat her up at the edge of the bed, I could tell she was going to lose it: and she did. This is one of C's most regular problems: nearly any irritation can bring on vomitting. It usually starts with a simple gag or cough and ends with a full vomit after which she generally feels much better. I checked her log: today was the first vomit since Dec. 31. For C, once in 2 weeks is not bad.

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.

Hi. I am the father of a twelve year old girl with Holoprosencephaly. For a long while I have been wanting to start a blog/journal to chronicle our lives with her. The goal is to provide a glimpse into our lives, raising a child with significant developmental disabilities. Holoprosencephaly is a rare disorder and there is a lot of misinformation about it so I wanted to provide some real information, from the perspective of a parent who lives with and deals with HPE every day. This is our story.

Periodically I will publish a series of posts describing our history with C, from her birth in 1996 to now. Otherwise I will just comment on what's going in our lives, or anything else that strikes me.