Epilepsy and neurodiversity (can get along)

Coming off the heels of a post about numerous seizures, it might be a good time to delve into the whole “this is a gift!” vs. “this is a terrible sickness” discussion that seem to plague many a special needs community…

AHHHHH.

We just cannot think of people, inherently complex beings, in polarizing terms. Neurological differences can sometimes come hand-in-hand with neurological disorders like epilepsy but the latter cannot be used to define the former as pathological.

If someone has depression, we would not consider his/her entire being as diseased, but recognize that they are suffering somehow, and work to help ease that problem. Perhaps this is a shoddy comparison, but you get my drift, right? In fact, having gone through depression myself in the past, it’s often something I look back on lovingly as a very hard time that gave me immense, grounding knowledge.

Brains are infinitely complicated computers that can sometimes run into wiring issues – it happens to every one of us. Negative thoughts, obsessive thoughts, headaches, vision issues, fatigue, you name it… some obviously more serious than others, but all possible symptoms that can happen as a result of just having a brain. With stigmas, our culture has come to categorize some symptoms as more meaningful than others. The more chronic or holistically-affecting, the more it leaches into defining the person by that issue… and sometimes influencing whether we choose to pass that person over, or invest our time, love, commitment, etc.

If you’ve read other posts of mine, I can sometimes get very reverie-y about the fact that A is an incredibly interesting kid because he is neurologically different. I really do believe in and celebrate neurodiversity, all of the time. To me, being interesting is superior over being typical. I don’t mean neurotypical, just typical… fitting in, being predictable, operating on automatic, etc. But I try to keep myself in check with the whole “he has superpowers!” or “he’s totally the best BECAUSE he has disabilities” because… sigh. His epilepsy is an endless fucking bummer, and I’m sure he’d likely cash in his motor planning issues for the ability to walk and talk in a second. Let’s stay real.

But here’s the thing, I think: innovation comes from adaptation, peace comes from letting go, acceptance, and appreciating the good things when they come, wisdom is born out of struggle. And A is in a position to experience all of these things, always. It’s all he’s known. So it’s inevitable that in time, he really will become an exceptional human being. Not because of his disabilities, not because of his superpowers, not because he is sick, not because he is neurodiverse, but because he is simply human.

If that seems muddled, it’s because it is.

Genies

The genetics appointment yesterday was basically pointless, yet still took up a full day with the waiting around, 2hr one-way travel time, meals away from home, etc. Neurology asked them to scan for genes that are known causes of myoclonic epilepsy, to see if any of A’s are affected, in addition to his known microdeletion. Likely not, and even if there is a hit there, it won’t change things or tell us much more than… avoid valproic acid. Which was already a try and fail.

We did use this time tho to get all of our family’s blood taken and sent to Georgia State University for a study there. One of the researchers seems to be particularly interested in the genes that A is missing, so we’re signing up as a data point. It too won’t tell us much more than what we already know, but it’s our contribution to SCIENCE! Maybe someday A will have a paper written about him. Today, I must scan and email 50 pages of consent forms.

Weirdly, his neurologist wants us to add another medication called Lamotrigine. I say weirdly because we are still just 6 weeks into the ketogenic diet and from what I’ve read, it can take longer than that to tweak/click. In the meantime, medication can gets in the way. So why add more? Especially when the likelihood of yet another drug working at this point is quite low.

At yesterday’s appointment I exclaimed, “Nobody knows anything!” because… it’s true. It’s all such one big experiment. There are no sureties, comparisons, or predictabilities in this realm of the undiagnosed child. There is only time. And perhaps luck.

Do we start a new medication, especially when the last one was SUCH a bust? Do we remain patient with a limiting, time-consuming, pricey diet? Do we attempt to chart the waters of medical marijuana oil? Time, guide me. Universe, give us luck. Let our scientific donation pay us backward in this circular orbit of space-time.

E contemplates ginormous zucchini

Trusting time

As much as I enact the “let him be” method of parenting A, there is a parallel anxiety running under the surface that is sometimes hard to ignore. “Do something!” it calls out. Do more than nothing, in this moment and all of the other moments, just do more. It is also a symptom of my mishmash approach to therapies. Typical in my life, I can do a lot of things well but nothing that amazingly, and sometimes I worry that the sheer quantity of stuff in my head regarding helping A just… stalls me. It can feel like piling a mountain of rocks in front of us or oiling the road, depending on the day.

And then there’s yet another thread woven through this fabric, alongside passivity and anxiety, a calming presence that soothes: “Don’t worry, in time.” Ah, time.

Time is what keeps everything from happening at once.

On my spacier days, I believe that the future has already happened and that there are glimpses of it from here (Déjà vus? Naw. But, feelings and serendipities.). To me this doesn’t change anything or direct me in any way, but it does calm me profoundly. I always feel like everything will be okay, even when it’s not, it still is. Things keep happening, always. There is always forward which is eventually better. Time is progress, in this case. Time actually is progress. The brain learns, neurons connect, and wonders occur.

(As an aside, did you know some researchers think déjà vu is a neurological abnormality? And that they’re investigating particular genes associated with it? I’m jealous of the future people of the world just for the inevitable, fascinating breadth of knowledge in neurology that will be available. We know nothing now, but we will! Genes are totally figure-out-able, if you’ve got hundreds of years to spare.)

I truly feel that A will be a-ok, that his fate is amazing, somehow, and that his destiny is shiny and bright. It is a very familiar, comfortable knowing, as if it’s already been confirmed by time.

So in the moments where I feel like I need to do more, whether or not it moves me to action or inaction, I console myself gently with the fact that time will take him places either way. Time will be by his side, leading him along the good path of life, guided by our voices (our cheers!) or whatever he chooses to listen to, and there he’ll go, onward always.

Undiagnosed: belonging yet not

Undiagnosed Children’s Awareness Day was last Friday. The weather that day was glorious… sunshine and plus 15C and so I spent the entire day outside gardening. A lot of fellow mamas spent time writing about the day, though, and I am thankful to them. It had the effect on me it was supposed to – I felt less alone. I learned that A is less a genetic quirk, and actually part of a beautiful community of SWANs (those that have a Syndrome Without A Name). Although subtle, as nothing has really changed, I sense a shift in my confidence and anxiety around A’s A-ness. He is special but not that special. What a confusing yet comforting sentiment.

I don’t really want to rehash what the rest of the undiagnosed child parents are putting out there – about the difficulties of not knowing the future combined with the hope of infinite possibility that comes with no prescribed limitations. It’s out there tho, if you need comforting.

As wonderful as it is to know about this community and be able to identify with it, I haven’t felt the urge to jump in and participate directly. Because as cool as it is to find belonging, somewhat, we are unique, as is everyone. Undiagnosed is suuuuuch a massive category of people, that the experiential similarities are overwhelmed by the differences in health, abilities, needs, and so on. It is an ocean. Sometimes it’s nice to swim in the ocean, but mostly I aim to keep grounded.

Similarly, I unsubscribed from the “Chromosome 12q deletion” facebook group. Yes, A “belongs” within this crew, in theory, but he doesn’t really. Though I met a wonderful fellow mama there (who has directed me to many amazing alternative therapies and areas of learning!), I was looking for information specific to A’s condition. But again, the chromosome thing is so vast and so unknown, that the huge differences from kid to kid distract me from any meaningful learning about what can help A. I’m not sure there will ever be enough genetic overlap with anyone, anytime, to be regarded as a possible carbon copy to A’s experience. We’re just not there yet in terms of gene research (tho it’s coming), to be able to identify how and why missing one copy of 7 genes affects A the way it does.

It may sound a little harsh, to virtually snub all of these pools of wonderful, sharing, engaging parents. But it’s less about snubbing and more about paring down all that I want to read about, learn about, think about, and process. There is so much, all of the time, because he is so much, and so himself. The possibility behind his being is such a mystery, that in all of my learning and assimilation of that learning, I still feel like it’s just the tip of the iceberg.

May of hope and celebration

The experience of being A’s mama has been a small journey of my own – almost every day, I feel the way I think changing. The way I think about and live around A’s “disability” evolves constantly, for the better (I guess to the point where I put the word disability in quotes).

It’s beautiful May. “Write every day” rhymes with May and so that’s what I’m going to try and do, for the heck of it. For the hope of it. Because I’ve become more aware of how important it is to send positivity and light out around the topic of different neurologies, for how incredible and important they are. I recently read about the real possibility of autism and eugenics and it made my whole being shiver. It makes me want to cover the world with tears. And then it makes me want to write and write about how endlessly privileged I am to be A’s mama. How I live in constant reverie and hope and how wonderfully fulfilling, painful, human, intricate, and focusing it is.

I don’t want to exotic-fy A. He is the same as us. But with some added magic. Yesterday his daycare worker told me there is another non-verbal child who attends. Non-verbal though he is able to say only two words: “help” and… my son’s name.

The grind

Quiet evening with wine, comfy pants, and a movie after a long day at CHEO – A had a neurology check up, another EEG, an organ ultrasound, an EKG, blood tests, and I’m probably missing something. What a wonderful hospital though – the staff are always amazing with A, and they seem to really try to make things run as smoothly as possible for us overwhelmed parents.

The ultrasound and heart stuff are part of a general workup they’ve been doing on A to check… kinda everything. With genetically unique kidlets, it seems like they try to cover all bases to make sure everything is as it should be. A relief to confirm that physically speaking, little dude is top notch. All of his issues are neurological.

That being said, A’s neurologist is stumped. His seizures are not yet controlled and the latest med, started a few weeks ago (valproic acid), has made him so heavily sedated he’s been sleeping 22hrs/day. Weaning off of it already. She’s not sure where to go from here so is handing A’s case over to a colleague that specializes in more complex seizure disorders and has experience with the less common meds.

We’ve also been dealing with a week of fever for A – after being told on day two to wait it out, I brought him to emerg yesterday since he wasn’t getting any better and found it had become a nasty ear infection. Antibiotics have been added to the menu. Probably another reason why he’s sleeping so much as well. So. many. variables! Bodies are ridiculously complex machines. We find it quite difficult sometimes to report back about A’s seizures and the effects of meds since it is all SUCH an uncontrolled experiment.

The EEG technician made my heart smile by saying, “These kids have brains that are just wired differently. They might not be able to do a lot of the things we can do, but their brains can do things we can’t – I wish the world made better use of that.” Someday, I have faith it will.

Tough week for little mans but as his uncle said earlier, “what a little trooper”.

For extra fun, just add newborn

It’s nice to be off work and get to hang out a lot with A, especially with all the business of arranging services and attending therapies, etc. The only catch is that I’ve got a newborn to look after as well. Maternity leave ya’ll!

We got pregnant before figuring out the genetics stuff with A. It was a little awful having doctors tip-toe around asking me if I wanted to end the pregnancy should it turn out that A’s issues were inherited and thus likely to affect #2 as well… but we assured them another A would be fine by us. Nonetheless, there was that worry. Fortunately, this was not the case and E is just fine. To assure us of this, he’s strong and breastfeeding well and hitting the early milestones easily. I’ll write about A’s first month another time, but it was difficult. Life with newborn E is easy.

It’s beautiful and strange to have a kid that I don’t have to worry about. I predict he is the missing piece of our little family puzzle – healing his mama, teaching his brother. That’s a lot to put on a 6 week old, but I think it will come naturally. I see it happening already. He is chubby and smiley and he and A seem comforted by each other’s company. They’ll be quite a team.

Funny to think they could both be walking this year. It’s going to be a fun 2014.

Intro

My son just turned two. He is absolutely amazing and gorgeous. It has taken time, but lately I look at him with less worry and more reverie.

As his mother, I spend the majority of my limited free time (when he and the newborn are simultaneously napping!) obsessively researching, to hopefully learn more about him. I endlessly google and read about: developmental delays, epilepsy, physiotherapy exercises, communication alternatives, sensory processing disorders, autism, genes in the 12th chromosome, milestones neurotypical kids reach and when, neurodiversity, disability funding, local disability services, etc…. and my favourite: success stories.

I often find myself on the blogs of fellow parents of special needs kids. They are the best – passionate, articulate, down-to-earth mamas and pops exhaustively searching for their own information to help their child, and relaying all the good stuff down to us googling folk. I’d like to contribute to this space in the hopes that our journey with A may somehow help others.

The story so far
A has a rare genetic condition that no one knows anything about, other than it exists and is likely the cause of his developmental delays (fine motor, gross motor, and speech) and epilepsy. We found out this information by getting his blood tested (chromosomal microarray) and discovering a teeny part of his 12th chromosome is missing (0.36mb at 12q24.31). My husband and I were also tested and we do not have the same microdeletion, so it was not inherited and considered “de novo”.

His condition is “unique” in that there is no one else like him and therefore we do not know what this means in terms of: will he catch up to his peers developmentally, will his seizures stop,  will he be an astrophysicist, will he be able to live independently, when will he walk, when will he talk, will he need help at school, will he always be quirky, and so on.

The magical mysteries that surround my son are, I’ve discovered, not uncommon in the special-needs-toddler world… many parents of delayed kids do not have a diagnosis, or if they do, still don’t have any concrete answers about what the future holds. It’s tough.

Sharing
I hesitate to publish stuff about A in case he really does turn out to be an average joe, and doesn’t appreciate his medical/toddler history being exposed to the world. For this reason, I’ve changed his name and will leave out specific personal details, so if/when he applies for that job at Virgin Galactic in 20 years, they’ll be none the wiser.

What now?
Right now A and I hang out quite a bit and work on stuff at home. He also sees a physiotherapist, occupational therapist, and speech language pathologist for gross motor, fine motor, and speech help, once every two weeks. He goes to daycare once a week to socialize, and will likely go more often soonish. He also plays with an infant development worker for an hour every two weeks. Needless to say, most of the teaching happens at home. It is tiring and frustrating for both of us, but it works… slowly but surely.

I’m about to play around more with communication possibilities. We’ve been focusing mostly on gross motor work (he can now support himself on all fours!) but I feel there’s a growing frustration within him due to lack of communication. He currently doesn’t have any words. Next stop… communication boards!