The 100% Club

The only thing you sometimes have control over is perspective. You don't have control over your situation. But you have a choice how you view it.
Being a parent of a child with Leigh's Syndrome, or any debilitating disease for that matter, takes you to places you never thought imaginable and tests you like you've never been tested. It's an emotional roller coaster. One you'd probably rather get off before you're sick. But you won't. Because for every stomach churning low, there's an incredible, soaring high that gives you hope again and changes your perspective.

Take the three weeks since my last blog post for example. It's human nature to get upset when you're delivered bad news about the health of your child. The one person it's your job to nurture and protect above any. Yet, strangely enough, despite being given two separate pieces of bad news, two further developments in Oli's condition that on their own are, well let's just say, a kick in the gut, we've still managed to emerge from August with renewed optimism and vigor.  

We're slowly getting conditioned through this process. Months of taking a beating, sleepless nights, teary eyed talks with doctors you'd rather not have, praying for a miracle and being given more grave news about the seriousness of the disease causing mayhem in our sons tiny body.  It becomes the new norm. After a while you get used to it. We emerge from it stronger. Because amongst the storm comes these streaks of light that you run towards. You cling to. Signs of improvement and signals that, at least for a little while, our boy is going to be ok. And, most of all, he's happy.

I used to really enjoy the road trip back to Houston. We've done it many times visiting Kayli's family. A straight shot down 71/I10 and we're there in 3 hours or so. 
I've started to resent it. It's as though each time we go we're given further insight into just how awful Oliver's disorder really is. His primary care team are in Austin but his main specialists are based down in Houston, so it's as though we uncover a new piece to the puzzle on every trip.
We had a routine one hour appointment on a Friday booked in with his, quite frankly, brilliant mitochondrial disease doctor. She's a leader in his field and has been an incredible source of information. The one hour appointment turned in to a whole weekend in the hospital. Oli has had a fairly regular occurrence of 'episodes' where his whole body will tense up and he'll be completely vacant just for a couple of seconds at a time, over about a ten minute period. We had him observed in a hospital over night previously and they ruled out seizure activity. His specialist had other ideas and booked him in for a 2 night stay at the epilepsy ward of the children's hospital in Houston.

Kick in the gut number 1. We were sent home on the Sunday with news that he was showing healthy brain activity and the episodes were more 'discharges' than seizures. Great news, right? That was until a phone call on the Tuesday to inform us that one of the later episodes shortly before we were discharged was in fact a seizure, they'd just got the delayed results through. If not dealt with, seizures can have frightening consequences to brain function. We're fortunate it's only very mild in Oli, right now, and they were confident the prescribed medicine, Kepra, should help to stave off further seizures, at least for a while. Kepra is now the 8th different medicine or supplement that Oli is given on a daily basis.

Kick in the gut number 2. Genetics results. I'm going to try and break this down as best I can, although to be honest, we are still trying to wrap our head around these results and what they actually mean. It's not the first time we've felt as though you need both a biology and a chemistry degree to understand Leigh's Syndrome.
A few months back Oli, Kayli & I all gave blood samples for them to assess the specific type of disease he has, how it came about and the future implications. It's important to note that even at that time we still didn't know it was Leigh's Syndrome. We saw his current specialist shortly after that and she knew right away just from his symptoms what we were looking at. She was spot on. The blood tests would delve deeper and give us a bigger picture. 
I can now tell you Oli has a mutation in the MT-ATP6 gene. The m.8993 T>G homoplasmic pathogenic variant was detected.
Pardon? Insert thinking face emoji. Yes, I'm none the wiser either. Even after a room full of doctor's broke it down with flow charts and diagrams and spoke as slowly as they could so us simple folk could follow along. Still didn't grasp it. Not sure I ever fully will even after reading up on the literature.
It's essentially a change that occurred in Oli's gene sequencing at conception. A common gene anomaly amongst Leigh's Syndrome sufferers. From what I've read there seems to be around 3-5 prevalent forms of Leigh's, I'm sure there's probably a number more.
The most revealing part of my scientific blurb above is the part that reads homosplasmic. What this essentially means is that all of Oli's mitochondria have been affected by this change. Every single one. Some people may carry these affected/changed mitochondria, but only in 20% of their overall mitochondria and so they may never exhibit any signs of mitochondrial disease, they would just be a carrier. Then you may see Leigh's patients exhibiting all the symptoms that come with a mitochondrial disease and they may have 90% affected. Oli on the other hand has 100% of his mitochondria affected.
You don't need to be a scientist to understand that isn't a good thing. The long term prognosis is bleak.

And through all this, our boy continues to amaze us. Continues to surprise us. Continues to fight through it and hit milestones like any 'normal' infant would. 
We know the full diagnosis now. We know he has Leigh's Syndrome. We know the extent of it. We know the signs & signals to look out for. We know what can happen. We've read the facts, we've read the stats. We've heard the warnings spoken by countless doctors.
But here's the thing. 3 months ago Oli was in the midst of a 'crisis'. A mitochondrial disease crash, or 'event', where his whole body was shutting down. Struggling to breath effectively, barely responding to us when we walked in his room, no longer smiling. We were told he may not be able to fight it much longer. Yet the big dip on the aforementioned roller coaster that is Leigh's Syndrome, we're now experiencing an incredible incline. A steep, yet gradual, improvement day to day and week to week.
How can someone so young possess 100% damaged mitochondria, the vital part of the cell that stores and carries energy to our organs, coupled with having a major post surgery crisis and still rebound in such a way. Hitting new milestones that make us want to jump for joy. He's a little warrior.

Speaking of milestones. Next week marks one of the biggest of all. Oliver turns 1 on September 11th. I'd by lying if I said there weren't days where I didn't believe we'd ever get a chance to light candles on a birthday cake for Oli.
At 8 months old, any progress that he had made was wiped out by his crisis. It triggered a starting point in his development alike to that of a newborn baby. There's certain milestones that an able bodied child will hit that we're told he'll never fully achieve because he simply won't create the desired amount of energy. We refuse to focus on the things we're told he probably won't do, and instead celebrate when he starts doing things we never thought possible. Here's a list of just some of the milestones he's hit in the past month:
- Learned to roll over on both sides again (left & right) and from front to back & back to front
- He's babbling to us throughout the day, responding to what we're saying, and even trying to say a couple words of his own
- This one will sound strange, but we're rejoicing in his pooping and crying! Previously he didn't have the energy and perhaps the signals from his brain limited him feeling the need to cry and he would go numerous days without any bowel movements. He's now pooping plenty and even cried to let us know he had a poop waiting for us in his diaper.
- He's bringing toys to his mouth
- He loves pool & bath time, splashing around in the water
- We've started him back on taking some of his feed orally, getting him used to swallowing his food again, where previously all his milk has been delivered via his feeding tube
- He's more engaged and tracks our every movement, especially his sister's, around the room
- The best of all. He is the happiest little boy. He is constantly smiling and giggling again now. See the video below.

Anything is possible. Don't ever give up hope on any goals you set, now matter how big. We're confident of a continued upward swing and hope to see him sitting up unaided in no time.

It's been longer than I would have liked since my last posting. I've had co-workers stopping me in the corridor and friends texting me asking when we'll see the next update. I'm pleased that the blog is serving the purpose that I had originally intended; to keep you all up to date on Oli's progress and continue to educate on his condition. Thank you for reading on. I know it doesn't make easy reading at times, it's emotional for us all. But we're coping fine. We're in more of a routine now. We're fortunate to receive constant help with Oliver's care from a couple of excellent home health nurses, and the support from every one else in our lives is power in itself.
We went through a period of not being able to focus on much more than just our family unit and getting to the bottom of Oliver's health problems. We shut a lot of other people out. Kayli & I, in particular, are very prideful people by nature. We refused to accept different forms of help when offered. We battled on ourselves. But the only way you get through something like this is with the help and support of those around you. A friend said to me this week 'It blesses others to be able to help. You're actually doing them a favor'. It struck a cord and changed my perspective.
I've been blown away by the support of my company here in Austin; Keller Williams, they hosted a charity bowling event this week and part of the proceeds will go to Oliver. 
Late September will bring the Mitochondrial Awareness Week across the globe. I have been planning a big fundraiser, an endurance challenge. A number of friends have already offered their services. I'm excited to tell you more about it in the next post, plus hopefully I'll have some pictures of the birthday boy to share!