When one has a complex or mysterious problem,  the path of referral goes something like this:  see a generalist, get referred to a specialist who knows the condition, get further referred to a sub-specialist who does the procedure for that condition.  The scope gets more and more narrow, like a funnel.

I think many patients, and parents of young patients, see this as a journey down a single, inevitable path leading to the grand conclusion.  Not as a complex maze that could shoot an unwitting participant down a dark tunnel that lands herself in one of many possible chambers.  Viewed through a wider lens, which chamber you end up in can seem almost random.  Depends on who you saw last.  What they knew.  What they read.  Whom you’ve met so far.  Whether or not you liked the last doctor.

Uberspecialists, like the one guy who does the one procedure for the rarest of conditions, are like special interest groups.  They have their own funding, their own agendas, their own perspectives.  Like all good scientists and researchers and engineers, they are simply trying to prove a thesis.   To support an idea that has possibly been years, decades, in the making.  They are looking to see if your case fits with what they have to offer.  They are assessing to see if you are a good candidate and whether or not you will be deemed a successful outcome.  In other words, do you fit their profile?

Here’s the problem:  If you do fit the profile, it’s natural to assume that whatever they’re offering is the right solution.   Finer minds than yours and mine have spent a lot of time and money to figure out this one thing.  And the specialist doesn’t have the time or inclination or even perspective to state his or her special interest.  This path of referral can take many months, and sometimes years – the legitimacy of the path itself is not called into question at that point.  The specialist assumes you’re pre-qualified enough and you, the patient or parent, is just happy to talk to someone who finally knows what you’re going through.

I remember the moment I clued in to this.  The neurologist was looking Owen up and down, thinking out loud.  She recited a high-level checklist, crossing them off one by one.  Fixed postures?  No.  Is he big enough?  Yes.  Parents understand the surgical risks?  Yes.  Then, as I relayed in my last post, she said something like, “Well then.  There’s no reason not to.”  Hm, I thought.  That has a ring that’s not sounding quite right.

(This experience reminds me of the process around discovering Owen’s deafness.   He was diagnosed at Sick Kids, around 1999-2000.  Not sure what they do now but back then, when hearing fell out of a particular decibel range, children were referred immediately to the H.E.A.R. program.    Hearing Evaluation And Rehabilitation.   Also known as the cochlear implant program.  No other options were presented; Owen was put on the list and we started the assessments.  When I inquired about other options, they said there were none – they of course meant that there were no other interventions that would restore or simulate hearing, and they were right.  But I could easily have taken  that to mean ‘this course of action is the only reasonable thing to do’. )

No reason not to.   From her perspective, the doctor was absolutely right.   And now it’s up to me to figure out what else is right, and also good.

I was looking forward to exploring the possibilities and finding out more – and hoping to rule it out, or rule it in.  I came away from the appointment deeply disappointed – not in the doctors, not in the surgery, not in myself.  Just bummed in general.  Despite my resistance to another potentially useless surgically-implanted device, in the brain no less!, I was committed to continuing the dialogue until a decision had to be made.  I was anticipating the moment when all that research would turn into an obvious answer.  No such luck.

Hell's Kitchen Flea Market, NYC - has nothing to do with this post.

Only a handful of children in Canada have had the procedure done, and only a few of them have had the device implanted long enough to report any results – most with no to minimal improvement (of kids similar to Owen). Interestingly, the neurologists cited official-sounding statistics, like “1-2% will experience a stroke during the procedure due to burst blood vessels”.  1-2%?  Based on a sample of less than 10?  I asked for clarification.  The number was extrapolated from the adult population and applied to what they know about children’s brains.  Fair enough.  But to me, that explanation rendered the numbers virtually meaningless.

We discussed the ins and outs, the pros and cons, the ups and downs.  Random quotes:  “Maybe it will help.  Maybe not.” “May provide some pain relief.  Maybe not.”  “May cause tingles or additional posturing.  Maybe not.”  “Probably can’t hurt.  Maybe.”  “If you’ve tried everything else, I can’t see a reason not to try.”  “As far as brain surgery goes, this is pretty low risk.”  “No, we won’t take it out if it doesn’t work.  But it might be worth a try.”  “Why not?”

I guess that saying is applicable here:  when all you have is a hammer, everything looks like a nail.  Might as well give it a whack.

Thanks, but no thanks.

One of my favourite shots of Angus. Owen did not come on this trip.

As Owen gets bigger and more wiggly I can sense the forthcoming horrific decisions that are coming my way.  He is not that heavy yet (48 lbs) nor is he that tall (drat, I forget…  he’s short) but consider his size when he’s doing his best imitation of a greased seal and you’ll perhaps appreciate how difficult it can be to manage him.

Owen has virtually no control of his movements due to the unhappy combination of dystonia and spasticity.  Often, he extends through his whole body so powerfully he gets deep marks in his thighs and shoulders from his wheelchair’s lapbelt and chest straps.  When he can’t sit comfortably (which is a lot of the time), he must be released from his binds and laid on the floor.  Because of the lack of support there he writhes, twists and contorts himself into impossible pretzel shapes and must be rescued from himself.  The pressure in his stomach is so strong he pushes up his food and chokes/sputters every time he lies down.  And so then, the only option left is to be held in someone’s lap/arms, supported in a way that provides nothing less than a full-body restraint, using chin, hands, feet, thighs, knees to restrict the movement of a wayward flailing arm, flopping head and extended and rotated leg.  He thrusts, twists, flops and lunges in quick succession, sometimes, incomprehensibly, all at the same time.  I’m exhausted just thinking about it, even as I hear him snoring now in his bed.

While Owen’s condition is not degenerative, it is certainly progressive – meaning, he’s getting harder to manage.  I see that we can’t keep this up.  Not me, his dad, his caregivers, probably not even Owen.  Not like this.

We met with Owen’s neurologist earlier this week, to review meds and talk about next steps.  Again, the only tools in her toolbox are increasing meds and considering DBS – deep brain stimulation.  Increasing meds was an easy sell in the moment, but for a number of reasons it’s no long-term solution.  And so, what of DBS?

To date my reactions to the procedure have been, well, reactive.  Icky scar on the head, invasive battery implanted under the collar bone, scary probe in the brain…  Sounds all science-fictionlike and creepy.  But when I take a step back, I can ask What about heart pacemakers?  Artificial limbs?  What about cochlear implants?  These were all met with skepticism (by some) but are fully embraced today.  This DBS technology will be standard in 10 years. Maybe 5.  Perhaps I will feel foolish for being so resistant now.  Owen would not be alive today were it not for technology.  And anyway is DBS any more invasive than all those medications we give him several times a day, which by the way do little for his symptoms but in some cases create other problems?

I have decided to face my demons and learn more.  It’s only information (I tell myself).   No good decisions were ever based on fear and ignorance.  I am going to get the referral, meet the neurosurgeon and ask the important questions.

Someone has to do it.

It wasn’t actually a fraught decision;  I have always known my own limits for what interventions for Owen are acceptable and what are not.  The standard form for DNR (in Ontario, anyway) includes a list of actions that paramedics are legally excused from performing, including administering certain medications, chest compressions and artificial ventilation.

After thinking about it for a long while, I settled on an acceptable (customized) list and had Owen’s physician sign it.  She, and Owen’s dad, agreed with my decisions.

I then showed the form to all of our caregivers (actually, one more left…) and anyone else who figures into our everyday lives.  I made clear my intentions, my decision and my rationale and was open to discussing any reactions.  Everyone said they are supportive and some seemed relieved that a plan had been communicated.

This post is not about the details of the DNR or even whether or not I think you should sign one.  It’s a deeply personal matter and one about which I have no judgement.  Rather, I encourage you to think about how you would want an emergency handled.  Decide what you must and then inform anyone who needs to know.

For me, the details of the DNR were decided strictly on the basis of Owen’s likelihood to survive the intervention and what his life might look like afterwards.  However, the decision to contemplate it at all and finally get it in place was motivated (in part) by a completely different set of factors.

I currently employ 5 caregivers who collectively work approx. 50 hours a week.  The chances of an emergency happening during that time are not negligible.  I feel it is my responsibility to share with them the ‘master plan’, to not only help them to know what to do, but also to relieve them of the terrible burden of powerlessness and potential regret.

I am quite certain they feel the fragility of Owen’s life and it possibly crosses their minds more than occasionally that one day Owen may not be around to care for.   If any one of them are so unlucky as to face a potentially fatal emergency with Owen, I would want them to remain present enough to support Owen and not have to fret about decisions and interventions.  Because I have made decisions in advance, I can give my full trust and support to these fine young women.  For the amount of responsibility they shoulder every time they arrive for work, it’s the least I can offer them in return.

(Wild Water Kingdom.  Last few days of summer holiday.)

I was told a few weeks ago that Owen’s hip was completely dislocated, as evidenced by an x-ray.  (He’s been getting x-rays every 9-12 months for the past few years, to keep an eye on his pelvis and legs.)   One leg  has become progressively shorter than the other by about an inch, and on the same side, his hip protrudes to the side in an odd way.  I was not surprised to hear these results and was equally not surprised when we were referred to an orthopedic surgeon for a consult.

Well, imagine my surprise when just last week the surgeon said no, it is not dislocated.  It’s still about 40% ‘covered’ and we’ll just need to keep an eye on it.  See?  (gestures to x-ray hanging on lightbox) Look here.  And here.  Nothing to do about it now.  Next!  (He didn’t really say that last one.   Just illustrating how obviously NOT dislocated the surgeon thought Owen’s hip was.)

I said, hold up.  The report clearly stated it was dislocated.

He said I always look at the x-ray itself.  I never read those reports.  They’re almost always wrong.

(This photo has nothing to do with the following post.)

Sorry – I posted the MRI results and left everyone hanging.  Turns out the results don’t really indicate anything in particular.  The generalized atrophy simply means that his brain is smaller than is expected at his current age.  And one part of the brain, the basal ganglia, is markedly proportionally smaller.   This isn’t surprising; the basal ganglia controls, among other things, movement.  And Owen clearly can’t control his movements.  So we would expect to see something different or unusual in that part of the brain.

The other thing I learned is that although suggested in the report otherwise, his brain has not deteriorated in any way. The volume loss indicated is apparently quite negligible and for all intents and purposes, his brain is developing the same way it was when he was a year and a half old.  So his brain condition is said to be (likely) static and non-progressive.

I find this all rather anti-climactic.   I was, for maybe the first time ever, looking forward to results that could offer an explanation as to why Owen has changed so much in the past year.  I haven’t cared about the lack of diagnosis but recently my curiosity had gotten the better of me.  And when I finally agreed to testing, after so long, I thought my holding-out would be rewarded with some answers.

So not only was the result mildly disappointing, I feel like we got the ‘booby prize’ – these MRI findings likely mean he’s a good candidate for deep brain stimulation (DBS), which involves implanting electrodes in parts of the brain to help regulate brain activity.  In Owen’s case, DBS might reduce his dystonia and associated pain and tremors.   I’m a little gun-shy about more implants at the moment, in the brain no less, but as I sit with it I realize that it doesn’t hurt to be informed.  So, off I go – meetings, research, questions, Googling.

Stay tuned.

FINDINGS:

Previous MRI study dated 3rd March, 2000 was reviewed.

Generalized cerebral atrophy is noted, with prominence of CSF spaces.  Significant volume loss of the basal ganglia is noted, predominantly of the globus pallidus.  There is also some volume loss of the thalami.  Compared to the previous MRI, the volume loss in the basal ganglia has progressed.  For e.g. the indentation by the caudate nuclei is less pronounced compared to the previous study.

There is no evidence of a posterior fossa or supratentorial mass lesion or evidence of mass effect noted.  No focal or diffuse areas of abnormal signal are noted.

The ventricles, sulci, and cisternal spaces are within normal limits.  MR spectroscopy qualitatively appears normal with normal pattern of NAA, Cr and Choline.

IMPRESSION:

Generalized cerebral atrophy, with volume loss of the basal ganglia.  Further clinical correlation is suggested.

(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.