(Photo: Owen and Sallyanne)

Another general update.

Owen’s intrathecal baclofen pump was removed early February. The surgery itself was a great success – only 4 days in the hospital. He’d had a muscle biopsy as well (where a 2x2cm square of muscle was removed from his quadricep muscle – ouch).  I think that probably hurt more than the abdominal incision.

We recently received most of his outstanding test results and they all came back normal.  Still to come are the skin biopsy and a blood test for something called PANK2.  Honestly, I can’t even be bothered to look it up.  Another wild goose chase, I suspect.

I’m excited about another test coming up – his brain MRI this coming Monday.  This will most likely give us a good picture of any brain abnormalities.  Of course nothing ‘actionable’ but I think we will better understand the nature of his dystonia and spasticity.  He hasn’t had a brain scan since before he was 2 years old – a time when the brain is decidedly not fully formed – so this will hopefully tell us much.

People often ask if Owen is now ‘better’ after the surgery.  The short answer is no.  The surgery wasn’t meant to fix anything – just remove an old piece of useless hardware. The long answer is still no, but for different reasons.  I’m don’t want to make any more promises about posting again soon -  but I promise to post again soon.  (Old habits die hard.)

not all of you know owen had surgery yesterday for removal of the intrathecal baclofen pump; in case news traveled (and also of course to update you), the surgery went well and owen is doing fine.  it was good timing to remove it – there was a large amount of spinal fluid accumulating around the pump and through the abdomen (from where exactly no one is sure yet) and so he may have needed surgery anyway.

the pump was removed because of owen’s health complications in the spring – origins are still unknown but most likely culprit was the pump itself.  we found out some weeks afterwards that owen’s pump’s serial number was one of a batch recalled by medtronic for potential problems in medication regulation.  we’ll find out in a few weeks of his pump was indeed faulty.  and no, we are not getting another one!

we’ve embarked on a series of medical tests that may shed some light on things, or at least rule things out.  tests include skin and muscle biopsy, MRI, lumbar puncture, host of blood tests.  they’re looking for indicators for rare metabolic diseases and muscle disorders.  some genetic, some not.  some degenerative, some not.  owen is an unusual child on many fronts – we’ve always known that! – but recent changes in his function and comfort have prompted me to finally say ok to these invasive tests, if for nothing else than a benchmark.

anyway, likely owen will stay at sick kids in toronto for another day or two, then home to convalesce.  i’ll update when there’s something new to report.

much love,
jen

(photo:  ‘frontal bossing’ on full display)

I haven’t blogged in many months and yet traffic to the site remains steady.  Thank you for your continued interest :)  I promise to add another post next week about how things are *really* going.  Until then, here’s a status update:

• The medication in Owen’s intrathecal baclofen pump has been titrated (reduced) down to almost nothing.  The baclofen was switched out with saline in early December.  He is scheduled to have the pump removed on February 9.
• More oral medications have been added to his daily routine: oral baclofen and tizanidine. Net effect is that Owen is now tight AND dopey.  His dystonia is virtually unmanaged.  The medications serve to give him (and his caregivers) brief reprieves through sleep.
• We found out (well after the hospital stay) that Owen’s pump is one of many recalled by Medtronics due to potential faulty manufacturing.  His pump’s serial number appears on their recall list.  Commonly, when a defect is discovered a company will recall all products perceived to be at risk, which can be a number exponentially higher than those that are actually defective.  Prevailing opinion (including that of his neurosurgeon) is that while Owen’s pump is on the list, it does not meet Medtronics’ criteria for being faulty – namely, Owen’s pump is easily refilled and faulty pumps are not easily refilled.  However, faulty pumps do not regulate medication dose properly and can over- and/or under-dose without warning – which is what Owen’s pump appeared to be doing.  I don’t know what to make of all of this.  I’ll have no further comment on this until the pump has been removed and analyzed.
• Because Owen seems to be increasingly uncomfortable (and often in pain) from markedly increased spasticity and dystonia, I have agreed to allow several tests I have resisted in the past.  Skin biopsy (completed), lumbar puncture and muscle biopsy (both of which will be done during pump ex-plant).  These tests are querying several different diseases/conditions,  including mitochondrial disorders, Niemann-Pick Type C and other lysosomal storage disorders.  (If you’re curious, you’ll have to look these up.  These are fairly devastating diagnoses and best if I don’t describe them here.  Although I have to add that my sense is that these will all come back negative.  Intuition or blind hope?)
• Owen’s recent genetics report says he has low set ears and frontal bossing (big forehead). Jeez.

- a rare happy moment -

A brief (recent) medical history and update: Owen is not responding to the medication in his intrathecal baclofen pump implant, either due to mechanical problems with the pump/catheter or changes in how his body processes the medication. Over the course of many weeks in the hospital, he experienced what seemed to be alternating symptoms of extreme withdrawal and extreme overdose. We have now come to the conclusion that for whatever reason(s), it is unsafe for Owen to rely on the pump’s performance to control his spasticity; he’s back on large doses of oral medication while we titrate down the dose in the pump. The ultimate plan is to turn the pump off (or down, as low as it can reasonably go), let it sit unused for a while, and then make a decision. Options will be to replace the catheter (a simple procedure in theory) and try again or remove the pump altogether.

The oral medications are deeply sedating – they work simply by turning the brain off (or down) to reduce the frequency and intensity of the misfires that cause the spasticity. Simple proof is seen when Owen is asleep – no muscle tightness. Recently however, his usual deep sleep is interrupted by frequent, powerful reflexive posturing (sudden ‘fight or flight’ movements initiated by the brain stem – primitive responses that most of us outgrow in infancy). He can sometimes sit comfortably in his wheelchair, but only if he is sedate and dopey. If alert, he’s very uncomfortable and looks like all of his energy is consumed with just being spastic. He becomes tremorous, sweaty and distressed.

He is now at his upper limit for his daily dose of the primary drug we are using to manage his spasticity (oral baclofen). So we are about to try another medication typically used in adults (tizanadine), whose use is largely undocumented in children (although not infrequently used). It too is a spasticity medication but theoretically less sedating. He starts a low dose in a week or two.

I brought Owen to the hospital after a long night of fitful tremors and extreme spasticity. The spasticity I’ve seen before – but that was pre-baclofen pump implant. The tremors were new. My first suspicion was the pump – some element of it was no longer working to control his body.

Upon admission, the ER discovered a mild pneumonia – and we all assumed that his increased ‘tone’ was due to his lung infection. They admitted him, moved him to Critical Care and treated the pneumonia. We all expected the spasticity to rein itself in once his infection improved. It didn’t.

Often, spasticity elevates during infection and can sometimes stay elevated for a period of time – our various experts advised (and we concurred) increasing the dosing of the intrathecal baclofen. Increases in the medication didn’t help.

Next step was to investigate the mechanisms of the pump. Was it working right? Was the catheter connected? X-rays, CT scans, dye studies, spinal taps – all were done to see if things were hooked up correctly. They were. (Chronology is a little vague in hindsight – some of these tests were done earlier, some later.)

So next plan was to send boluses of medication via the pump. To see if Owen would respond to a one-time larger dose. He did. Dramatically. He fell into an unrouseable sleep for many hours with very low blood pressures. Prevailing thought was that, while it was an undesirable outcome, the pump was indeed working. Maybe; when he woke up, the tremors, spasticity and discomfort returned. So, they increased the dose in the pump.

He descended into another ‘somnolent’ episode. Again fiddling with the pump. Again fell into a deep sleep. Between these episodes, continued tremors and spasticity. Up, down, up, down. Back and forth to the CCU.

(Which, by the way, is a deeply unsettling place. The Critical Care Unit is focused on stabilization, at any cost. They were clear with us that their focus was on short term interventions to raise his blood pressure. Often this resulted in what I thought were aggressive, violent measures – arterial lines, multiple IVs, nasopharyngeal tubes, more and more and more medication. He needed it, so fine. But very difficult to watch. Can’t even imagine what it must feel like.)

So we’re back up on the ward again, out of CCU. He’s still up and down, but last time he simply woke up without intervention – so as he sleeps right now, as I write, they are waiting to see if he can wake up on his own again. He’s been asleep for almost 14 hours – longest he’s gone is 24. Lowest blood pressure last night, if you care about these things, was something like 58/36. We’re all starting to wonder if this isn’t just how he normally is. (Well, ‘normally’ is not the best word. Pre-hospitalization, but post-implant, Owen started sleeping very deeply – so deep, he would not wake up when I prepared him for school in the mornings. Diapering, changing clothes, feeding… he would often wake up on the school bus. Perhaps his ‘sleeps’ were similar somnolent episodes. Just not monitored. ‘Normally’ would mean not sleeping at all, due to uncontrolled, unmedicated spasticity.)

No one can explain why he is not responding to the intrathecal baclofen in terms of spasticity, and seems overmedicated at the same time. I’m not terribly surprised – we’re mucking around with the brain, with cerebral-spinal fluid, and a young boy with an (overall) undiagnosed condition. I have nothing but admiration for the doctors who are as perplexed and frustrated as we are – and who clearly want to help him out of this mess.

Long term plan, at this point, is to wean the seemingly useless and perhaps harmful (to Owen) intrathecal baclofen while increasing oral medications. Eventually, hopefully, his spasticity will ease without too much sedation, the pump will be off, and we can have it removed.

Above: Before the delightful ‘nasal trumpet’ was removed.

These 2 photos were taken this evening. Definitely improving. I can tell because he’s finally smiling.

Now that he has the intrathecal baclofen pump, I had expected he wouldn’t show such extreme posturing. Typically this would only happen if he has another underlying illness, like pneumonia. I don’t see that he’s sick though – just really tight. And the big worry, of course, is that it’s pump-related. Could there be an internal leak or disconnection? Always a worry.

That being said, I’ll make a disclosure which may explain things: I decided a couple of weeks ago to wean the last 2 mls of clonazepam – an anti-spasticity medication that was still lingering from pre-pump days. The day after he finished his last dose, this spasticity business started. Possibly related, but possibly not. I’m waiting to hear back from his physician to find out what to do next. I often make decisions without consulting his various professionals and this is the first time I’m regretting doing so. My challenge today will be to not blame myself for a potentially wrong decision – I just have to remind myself that I’m doing my best.

So two blog-related issues come to mind: If his high tone (spasticity) continues like this, it will definitely interfere with any assessment for technology access (often kids like Owen use tech devices for communciation). His appointment is next week, and I’m hoping we can resolve his physical issues by then. The other thought is this: he needs a communication system! How frustrating and deeply upsetting it must be for him (as it is for me) that he can’t express himself in his frequent moments of discomfort. Of course, his yelps and moans and vocalizations are expressive – but they don’t get us closer to understanding what he wants or needs. More validation we need to continue this journey…