(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 Medtronic 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.