miller dieker syndrome

Final day for orders. 

 

photo by Olson & Son Hopyard media director and CFO Karin.

 
Hard at work brewing beer this weekend here is the Olson & Son Hopyard and Brewing crew, with assistant brewer holding on to the 30 minute hop addition of .75oz of Chinooks. 
Just a quick not to remind everyone that today is the final day for orders of your very own Olson & Son Hopyard t-shirt, until next year. Click this link to order. 
Thank you all so very much for your interest and enthusiasm for our little project. Every t shirt sale helps us not only keep this fun hobby going but more importantly helps us maintain Liam’s medical equipment and needs. 

Your generosity has floored us all and I am so happy that so many of you have joined in the fun. I can’t tell you how much it cracks me up that in about three weeks people all over the country will be rocking their O&SH gear. 
Cheers! And thank you. 

Screen Time. 

Timing. It’s about timing.

When games aren’t really games.

Wait for the ring to surround the space invader.

Hit the headswitch when it does.

*BOOM*

Explosions. Fireworks. Applause.

Change to the communication app.

It’s about timing.

Wait for the green box to surround the words you want to say.

Hit the headswitch when it does.

*BOOM*

“Yes”

*BOOM*

“Hi Mom”

*BOOM*

“I love you”

 

You guys can control the screen time of your kids all you want. I get it. It just doesn’t work for our family. An ipad with a headswitch acts as Liam’s voicebox, in the same way that his vent acts as his lungs. And not so long ago neither would be possible. Especially at home and not in an institution. Not so long ago, the technology wasn’t there.

It’s about timing.

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The Limited Edition Olson & Son Hopyard T-shirts are still on sale at this link until September 1st. If you’d like the hottest Pressuresupport and hopyard gear do not miss out on this sale. We have achieved our goal number needed to guaranteeing a print run, so there’s no doubt that shirts will be shipping out about 10 days after the sale ends.

I want to thank everyone who has ordered, or shared the link for all of your help and support. So many people shared the sale page link that I was near tears at work trying to thank everyone as it was happening. It happened so quickly that I was overwhelmed by how many of you out there wanted to get the same shirt Liam and I wear. The Olson family appreciates all of you.

 

 

Being sure.

I think about the conversation nearly every day.

The seemingly scatterbrained geneticist with her big huge textbook on chromosomal trans locations. 20 hours earlier we heard the word lissencephaly for the first time. Only minutes earlier we heard the term Miller Dieker Syndrome for the first time. Karin and I sat nervously on the NICU “family room” couch. A two week old Liam lay in his isolette 30 feet away.

“I have some here if you’re sure you want to see them ” she grasped the textbook and slid her fingers to the page marked by the post it note sticking out.

“See them?” I asked. We were talking about chromosomes. We were talking about my son. About “abnormalities. About life expectancies. I didn’t need to see charts or molecule diagrams at that moment.

“Well, pictures of other kids who have the same diagnosis. So you know what your son may look like due to the syndrome. If you think your OK with seeing them I can show you some pictures of children up to a few years old. ” she said it just like that. Clutching her book and waiting for us to decide, as if what were about to see would have us heading for the hills.

I don’t have any idea how hard it must be to be a geneticist who’s job involves telling brand new parents the kinds of things that are “wrong” with their kids. Things that, though could not have been prevented, bring tremendous guilt since it came from within themselves. How difficult it must be to choose your words. To decide how to frame the conversation without setting expectations too high or low. I don’t envy her position in this.

Karin and I looked at each other for a second both nodding that we were ready for whatever we were about to see. We grabbed each other’s hands and told her we would like to see the pages.

The geneticist opened the book first to herself and then turned it around toward us. We looked on in silence. Looked back at each other and back toward the book and its pages again.

” I’ll leave you two alone for a few minutes to look at the pictures and I’ll be back to answer any questions you may have.” She excused herself without a word from either Karin and I who had now flipped through the four page textbook entry that included about a dozen photos.

“Uh,…” Karin seemed to be choosing her words carefully. “Um, what am I missing?”

I knew exactly what she meant.

“These are the cutest kids I’ve ever seen! Why did she make us decide if we were sure we wanted to see this. What am I supposed to be seeing here?” She said with relief in her voice.

“Well it says here, pronounced forehead, shortened nose, widely set eyes. I don’t know, they look like kids to me.” I said.

I remember laughing. Us both laughing. After twenty hours of mostly tears we had no idea what our future would hold. We had no idea what a life with a Miller Dieker kid would be like. We had no idea if Liam would even make it home from the hospital.

But we still knew what was funny.

And when a scatterbrained geneticist worries you into thinking your child’s head is going to end up growing inside-out but then shows you pictures of a bunch of adorable two year olds, well …that’s funny.

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I think about that conversation nearly every day.

Whenever I see a picture of Liam and marvel at how incredibly adorable he is.

Whenever I look at him and marvel at how handsome he is.

Whenever I’m amazed at how I could have possibly had any part in making something that looks so …

Perfect.

And now I ask you, are you really sure you want to see them?

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Elective not Emergency

The loud thunk of an ambulance door as it closes sounds equally ominous from either side. Inside on the bench seat, struggling to hold Liam’s hand and stay balanced as the EMT keeps checking vitals, or in the car, speeding behind trying to make it to the hospital as quickly as the rescue unit does. Unfortunately, Karin and I have been in both postition a few times each. Right now though, with Liam due to be admitted to the hospital in less than 12 hours, I almost envy those adreneline fueled roles.

Emergencies don’t give you time enough to stress. To worry. To obsess.

Tomorrow morning, Liam is being admitted to the hospital to start the Ketogenic Diet (go here to learn more about the diet) which hopefully will help control his seizures. He will be admitted for 3-5 days but I’m banking on 5. Given our history with hospital stays, hell I’m crossing all of my fingers and toes and HOPING for 5. Let’s just say that we know how quickly things can change in the big house and having two weeks to plan for this stay also means we’ve had two weeks to imagine every possible worst case scenario (and some of the impossible ones too.)

The possibility that Liam responds to the diet and we see a reduction in seizure activity and maybe even reduce the amount of medications he needs to control them make this hospital stay more than worth the inherent risks involved.

Anyway, as strange as it may sound we’d definitely prefer to stay in the PICU as we have spent so much time there that at this point it feels downright comfortable but I suspect that even though the nurses on the floors are unable to change a trach if the need arises, we’ll be up in gen-pop hoping we don’t get shivved instead of downstairs in solitary.

Don’t worry, this is actually a very exciting time for us all and I am almost giddy at the prospect of this treatment working. I’m trying very hard not to let my hopes get too high. It’s just that the anticipation of returning the family routine into “hospital mode” can be a tough pill to swallow. We’ve had hospital stays that were expected to be days turn into weeks and yes even months before so choosing to spend a week in the joint can seem a little crazy.

As you know I’m not a day-to-day-update kind of blogger. When I find a topic or an event and can think of a way to twist it into an essay then up it goes, but the general details of our lives go mostly unmentioned until I can work them into something bigger. Hospital stays though, change all that. The overnights next to Liam’s hospital bed or the sleepless nights alone in a much-too-quiet-house, both tend to inccrease the blogging drive and increase potential material so,.. I guess there’s that.

Like I said, I generally don’t like to post about a thing until I delude myself into thinking I have it all figured out. It’s why I can’t figure out how to end this disjointed and awkward post. I really just don’t know enough about what will happen in the next week to explain to you how I feel about it. Right now, I have nothing figured out. Just a whole lot of worry and a desire to fast forward the next 5 days away so my family and I can all be home again.

By then, probably, I’ll have it all figured out again.

Miller-What?

Diagnosis.

A dense, heavy word that seemingly hangs in the air with the presence of a battleship on an ocean. A powerful word capable of changing lives. Filled with contradictions, it is both a label and an outcome, a cause and an effect, a reason and an excuse.

Every family that has one or is seeking one will have a different opinion about the word.

It’s both a blessing and a curse.

A phone conversation with an old friend from the past, some close family friends conquering their own child’s latest hospital stay, milestones marked by Liam that didn’t seem possible even weeks ago, I’ve had the word diagnosis bouncing around my head for weeks now. So when my twitter feed this weekend had not one (@tricky_customer) but two(@havley_pelhem16) links to well written blog posts about the word diagnosis I decided I might as well jump in join the fun myself and get at least a little of all that bouncing going on in my head written down.

Liam’s diagnosis saved his life. There’s no doubt in my mind. Not the diagnosis itself but rather the fact that we were able to find it so early on in his life. I’ve been told that in many cases involving any lissencephaly diagnosis (Of which Liam’s diagnosis — Miller Dieker Syndrome is one of many) is found later in a child’s life when developmental milestones are delayed or missed. A family that we know of had no idea that there was anything at all wrong with their child’s brain until the kid was 18 months old. It was only the fact that Liam was born weighing less than a thousand grams that triggered a routine MRI which led us to Liam’s diagnosis at the ripe old age of three weeks old.

From blood gases to vent settings, heart rates to weights neonatology is mostly a numbers game. Armed with Liam’s diagnosis as added information we were able to watch closely for complications that are commonly found with Miller Dieker and more importantly be ready to treat them. Had Liam been born only a few weeks later (which still would have been before Karin’s third trimester) that MRI would not have taken place and many of Liam’s symptoms may have been more puzzling. Puzzling enough that we would not have known what was happening in time to help fix it. We expected the GI issues, we expected the respiratory problems, and as much as we hoped to never see them, we expected the seizures.

We’ve spent every hospital stay since pleading with residents and interns to forget what they read in the books about Miller Dieker Syndrome the rare diagnosis that they are so excited to encounter and treat and take a good hard look at the boy in front of them. Liam. Look at his story. At his details. At what is going on with him right now. Liam is not his Miller Dieker Syndrome. He is not his diagnosis, and his diagnosis is not him. The diagnosis that helped at first has also been a hinderance since like any diagnosis the varying degrees of severity  and combination of symptoms make each case unique. Young doctors like to treat the textbook. Liam has spent his whole life proving that textbook wrong. He is NOT his diagnosis.

I can only imagine the stress, heartache and worry that I would have felt had i expected Liam to crawl, to roll over, to talk but it never happened. There’s a comfort in knowing that nothing is guaranteed. Liam has never missed or been late for a developmental milestone. Ever. Because knowing what we knew when he was only three weeks old allowed us to free ourselves from any expectations or schedules for him to meet. Like a suit of armor Liam’s diagnosis shielded us from disappointment. Anything and everything that Liam has done or will ever do is cause for celebration and joy. With no schedule to conform to there’s nothing to be late for, only events to be grateful for. A diagnosis gave us that.

But sometimes I wish it were different. And not that I wish Liam didn’t have a diagnosis, Liam is who Liam is and I love him regardless but I’d be lying if I didn’t say there wasn’t such a thing as diagnosis envy. It doesn’t keep me up nights or anything but I do think about it on days like today — Autism Awareness Day. As many questions, myths, and misconceptions that still may persist when it comes to words like down syndrome, autism, epilepsy, or cerebral palsy they are still fairly recognizable to most. Sometimes I think it would be nice to tell someone that Liam has Miller Deiker Syndrome without having to spend the next ten minutes explaining what that means. Sometimes I wonder what it would be like to have one of those popular diagnosis, but we’ll just have to start our own Miller Deiker Syndrome Day.

More often than not I won’t write a blog post about a topic until I’ve got that topic all figured out in my head. Although I read respect, and admire many blogs written by people who are honest and open enough to put their whole thought process out there and really “work things out” on the page,  that’s not my style. Tonight I feel like the more I write the more questions I come up with.

I still don’t have this one all figured out. I’ve got a lot more thinking to do here. Ask me again in a month about this one.  The answer then may be completely different.

Even though Liam’s diagnosis won’t ever change, I think my attitude towards it always will.