December 3, International Day of People With Disability
By Guest Blogger Jennifer Johannesen
Parents with young children with severe neurodevelopmental disabilities
are extraordinarily committed to helping them achieve as much as they can, despite the
significant odds against them. I was one of those parents until I started to question why we
were working so hard, to achieve so little, at such tremendous cost. I have met many
families who share this experience. Hopefully this story sparks a discussion about the role
clinicians can play in helping families like mine establish realistic goals and priorities.
Owen’s brain scans didn’t give us many clues. Although his basal ganglia were underdeveloped
(this news caused a flurry of inquiry but produced no leads), there was little else to hint
at why Owen was the way he was. He was about as disabled as you could imagine: he could
not crawl, sit, stand, walk, chew, swallow or hear. He was a tiny boy – just 58 pounds when
he died, at 12 years old. The list of medical issues and complications was alarmingly long. In
a way, it was remarkable he lived as long as he did. He died sometime overnight while the
surrounding household slept, unaware of his struggle to turn himself back over. (The
diagnosis was SUDEP – Sudden Unexpected Death in Epilepsy – which was given despite
the fact that Owen didn’t have epilepsy, and despite his post-death position. His autopsy
revealed that he did not suffocate.)
I mention Owen’s scans because for a while, in the
early days, I thought they would reveal his secrets.
Owen’s doctors and therapists would explain to
me that his brain was misfiring; it was sending
wrong or mixed signals to his body, causing his
dystonia and spasticity. So I made the logical
assumption that his problems were located in his
brain, and I became especially focused on brain
scan results. Unfortunately more scans didn’t
reveal more information – especially as there was
nothing to see. (By the way: I could say the same
about bloodwork, genetic testing and muscle
biopsies. He endured a lot of tests, none of which
revealed the clues I was seeking.)
All of this to explain that none of us, including his doctors, knew what was wrong with him.
We only knew what we could see, which is that he was developing in unusual ways, never
meeting developmental milestones, not gaining any skills. But this wasn’t too discouraging:
our unfruitful quest to answer ‘why’ left plenty of room for hopes and dreams. No diagnosis
meant there were no limits—which suggested that anything was possible.
Our therapists were creative and energetic. Together we heroically embarked on a years-long
journey to help Owen ‘reach his full potential’. We tried to figure out communication, gross and
fine motor function, and literacy. We charted out goals and plans, noting with each failed benchmark
that there was always next time. To aid development (and handling) Owen was implanted
with an intrathecal baclofen pump (a small programmable pump that administers anti-spasticity
medication directly into the cerebrospinal fluid), and we began to explore deep brain stimulation.
For a while, I felt purposeful and fulfilled – I performed well and was praised as ‘such a great
mom’. It almost didn’t matter that Owen seemed to simply be along for the ride, not concerned in
the least that he wasn’t achieving the goals we’d set out for him. And it almost didn’t matter that
somewhere in the back of my mind was a small but rapidly growing sense of futility.
I don’t know if I would have changed course if Owen’s baclofen pump hadn’t malfunctioned. But
it did—he endured a long and difficult few weeks in intensive care as the neurosurgeon and his
team tried to figure out why Owen appeared to be experiencing intermittent symptoms of overdose
and withdrawal. It was a dark time of difficult decisions and terrible waiting. At one point I
lay beside him in his hospital bed, contemplating uncomfortable thoughts. What sort of childhood
was he experiencing? What sort of mother had I become? If he dies now, will I find comfort in all
that work? How will I remember our time together?
Shortly after discharge from the hospital, I rearranged
our lives. I withdrew him from school and any therapy
that had come to feel pointless—which, frankly, was all of
them. We focused instead on meaningful experiences
and enjoyable excursions. (These decisions were not
made lightly or recklessly – please read this post for
more context, or my book, No Ordinary Boy, for a fuller
His last few years of life were spent with people who
loved him, doing things that were enjoyable for all. The
physical work of caring for Owen became no easier, but
we were relieved of the tyranny of chasing Owen’s
‘potential’, which had cost us so much already.
Jennifer Johannesen (@jenjohannesen) writes and speaks about healthcare and disability. She is
completing a Master of Science in Bioethics and Policy at The Bioethics Program of Union
Graduate College and the Icahn School of Medicine at Mount Sinai. Her book, No Ordinary Boy,
is available on Amazon. This article was published originally in International Neuroethics Forum 'Brainstorm'.