Mito- What?
I really should have paid closer attention at school. After months of trying to get to the root of Oliver’s health problems, and after an MRI scan, we’re told for the first time there’s a chance it may be linked to a mitochondrial disorder. Mito- what? I wasn’t even sure how to spell it. I had vague recollections of the word from year 9 science classes with Mr Driver. Something about it being the energy carrying cell.
So that’s when I Googled it. Ladies and gentlemen, we live in a high tech, high speed, information-readily-available-at-your-fingertips world and that brings countless advantages in countless settings.
My first piece of advice if you have a sick child, or a sick family member for that matter - don’t go down the rabbit hole of ‘Googling’ illnesses. It doesn’t help anyone. Listen to your doctor. They are the expert and every illness really is case by case.
So let me tell you more about mitochondrial disorder as I now understand it.
I choose to call it a 'disorder'. In most dialogue or text you'll see it largely referred to as mitochondrial 'disease'. Call me silly, it doesn't change what he has, but to me even saying the word disease makes it seem much more real. More severe. I don't like the connotations.
Mitochondrial disorder is a very rare genetic condition (fewer than 20,000 cases per year in the US) that is caused by 'dysfunctional mitochondria in the body, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body and convert the energy of food molecules into the ATP that powers most cell functions' (Wikipedia).
Why does that matter so much? Can't his cells still operate his body normally even with this part not functioning correctly? Unfortunately not, in short.
A common factor in kids with MD is that the mitochondria are unable to completely burn food and oxygen to generate energy, which is essential for normal cell function. Over time, without this energy, organs begin to fail. The parts of the body, such as the heart, brain, muscles and lungs, requiring the greatest amounts of energy are the most affected.
One thing we've learned first hand is how incredibly difficult it is to diagnose MD. It's a relatively new medical concept and there aren't a vast amount of doctors specializing in the field. Not to mention the fact there are numerous forms of the disease and the severity & type of symptoms differ from person to person.
Being a genetic condition, it existed in Oli’s gene makeup straight away from conception. He was born a perfectly healthy baby boy on September 11th 2017, or so we thought. His first few months of life he didn’t really exhibit any signs of the condition and so we were none the wiser. It wasn’t until around the 4-5 month mark where Oli really struggled to shake a virus. This was coupled with dramatic weight loss, which at the time we believed to be a result of him spitting his milk back up after feeding. Just a bad case of reflux we assumed.
It took several months and countless trips to the hospital & to see various specialists before even getting close to the diagnosis we have today.
Initially at around 6 months old, the only diagnosis we had were 'Hypotonia' - low muscle tone, making it difficult for Oliver to hold his head up, sit up and crawl, and we were told he was 'Aspirating' where by he hadn't developed the swallowing muscles correctly, and so every time he breastfed his milk would enter his wind pipe and go down to the lungs as well as to the stomach.
From here we went to feeding every meal (breast milk) through a nasal g-tube. A machine that pumped the breast milk through a tube fitted into Oli's nose and down to his stomach. This was a nightmare. Every now and again he'd pull the tube completely out and we'd have to try and refit it, which isn't a particularly pleasant job, seeing your baby squirm at the pain of having a plastic tube forced down his throat.
Then at 8 months came a surgery and an MRI (brain) scan that changed everything. Up to this point we were completely oblivious, optimistic (as we still are) parents. Oliver was admitted to hospital for 3 nights to have a g-tube/button surgically attached to his stomach. His feeds would still come from a machine and down a tube, but no longer did we have to contend with plastic tubing and tape in his face, it went instead through a discreet hole on his belly.
Until this moment we were confident all the therapy he was receiving - physical, occupational & speech, would help him overcome his low muscle tone and he would be able to live some what of a 'normal' life.
The surgery seemed to have been a success, until the days and weeks past by. The Oliver that went in for surgery was not the same Oliver that we had at home several weeks later. Our initial hope was it was just the knock on affect of a surgery and the anesthesia still wearing off. He had become much more lethargic, he smiled a lot less, was less receptive when you walked in to the room, it was like his spark had gone.
Oli was under anesthesia for several hours to have the surgery and the MRI. What we've since learned, post diagnosis, is that going under anesthesia for any length of time can have damaging affects for infants with mitochondrial disorder. It saps a lot of the energy they were already running low on.
Post MRI scan was the first time we heard a mention of 'mitochondrial'. Our neurologist pointed out some lightly shaded areas on his brain known as lesions (dead tissue). This was conducive of a mitochondrial disorder, but she didn't want to jump too far ahead and asked that we seek advice from a geneticist.
The wait to see a geneticist in Austin was a whole year! We couldn't wait that long for answers and booked an appointment with a leading pediatric geneticist in Houston a couple of weeks after the scan results.
Up until today, as I'm writing this, we still don't know the full picture and are still waiting on the complete results from the blood tests taken by the geneticist. Mine, Kayli's & Oli's blood was sent away to be analyzed in a gene lab and can take a few months to be processed.
One thing, a very positive thing, to come out of our Houston appointment, was a referral to another doctor who specializes in mitochondrial disorder, one of the the pioneers in her field.
We visited her last month and in no time at all after meeting with Oli she diagnosed the form of mitochondrial disease that he has. Remember me saying there are numerous different types all with different symptoms? We now know that Oli has Leigh's Syndrome.
What we've learned about Leigh's Syndrome, and one of the most difficult aspects for us to accept, is that there is presently no cure. There are treatments and therapies to help prolong life and ease symptoms, but this is something that will never go away. There may be periods of sharp decline, like after Oli's surgery, or periods of temporary restoration of some functions. Eventually, Oli's present symptoms could lead to heart, kidney, vision, and breathing complications, and may eventually take his life.
One of the hardest things for Kayli & I to comprehend is the how and the why? We're both young & healthy, relatively speaking, as far as parenting goes. We have no family history of anything like this - so the biggest question I've always struggled with is how does this happen? Why us?
From the moment Kayli & I met on the beaches of Croatia it's been a fairytale romance and we've been very lucky to lead an exciting, yet comfortable life, full of happiness and adventure. We've been fortunate to face very little pain and sadness in our time up until this point, and now we've been given the biggest test of all. Seeing your child go through this and having the thought in the back of your mind that you may one day have to bury them is the biggest heart ache I think any one can ever endure.
Life can be cruel. Occasionally you may get dealt a bad hand. It’s how you play that hand that really defines the person you are and the life that you’ll live.
Don’t get me wrong, there’s times when I just want to curl up in a ball and cry my eyes out and there’s times where I’m in denial and completely forget about the challenge we’re faced with.
But ultimately we’re lucky for each day we get to spend with Oli and for the lessons that we learn from him because in just 10 months of life he’s already impacted our lives in such a profound way. He adds greater understanding and meaning to what life, love and family are all about. No one is guaranteed any amount of time on this Earth, so cherish each moment and be thankful for the friends and family you have around you.
Count your blessings and chalk up the wins. Right now Oli is bouncing back remarkably well from when he was admitted to hospital last month and we were told he may not have long left to live. His breathing problems are temporarily under control and he's giving us big smiles each and every day. He's an absolute joy to be around.
So that’s when I Googled it. Ladies and gentlemen, we live in a high tech, high speed, information-readily-available-at-your-fingertips world and that brings countless advantages in countless settings.
My first piece of advice if you have a sick child, or a sick family member for that matter - don’t go down the rabbit hole of ‘Googling’ illnesses. It doesn’t help anyone. Listen to your doctor. They are the expert and every illness really is case by case.
So let me tell you more about mitochondrial disorder as I now understand it.
I choose to call it a 'disorder'. In most dialogue or text you'll see it largely referred to as mitochondrial 'disease'. Call me silly, it doesn't change what he has, but to me even saying the word disease makes it seem much more real. More severe. I don't like the connotations.
Mitochondrial disorder is a very rare genetic condition (fewer than 20,000 cases per year in the US) that is caused by 'dysfunctional mitochondria in the body, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body and convert the energy of food molecules into the ATP that powers most cell functions' (Wikipedia).
Why does that matter so much? Can't his cells still operate his body normally even with this part not functioning correctly? Unfortunately not, in short.
A common factor in kids with MD is that the mitochondria are unable to completely burn food and oxygen to generate energy, which is essential for normal cell function. Over time, without this energy, organs begin to fail. The parts of the body, such as the heart, brain, muscles and lungs, requiring the greatest amounts of energy are the most affected.
One thing we've learned first hand is how incredibly difficult it is to diagnose MD. It's a relatively new medical concept and there aren't a vast amount of doctors specializing in the field. Not to mention the fact there are numerous forms of the disease and the severity & type of symptoms differ from person to person.
Being a genetic condition, it existed in Oli’s gene makeup straight away from conception. He was born a perfectly healthy baby boy on September 11th 2017, or so we thought. His first few months of life he didn’t really exhibit any signs of the condition and so we were none the wiser. It wasn’t until around the 4-5 month mark where Oli really struggled to shake a virus. This was coupled with dramatic weight loss, which at the time we believed to be a result of him spitting his milk back up after feeding. Just a bad case of reflux we assumed.
It took several months and countless trips to the hospital & to see various specialists before even getting close to the diagnosis we have today.
Initially at around 6 months old, the only diagnosis we had were 'Hypotonia' - low muscle tone, making it difficult for Oliver to hold his head up, sit up and crawl, and we were told he was 'Aspirating' where by he hadn't developed the swallowing muscles correctly, and so every time he breastfed his milk would enter his wind pipe and go down to the lungs as well as to the stomach.
From here we went to feeding every meal (breast milk) through a nasal g-tube. A machine that pumped the breast milk through a tube fitted into Oli's nose and down to his stomach. This was a nightmare. Every now and again he'd pull the tube completely out and we'd have to try and refit it, which isn't a particularly pleasant job, seeing your baby squirm at the pain of having a plastic tube forced down his throat.
Then at 8 months came a surgery and an MRI (brain) scan that changed everything. Up to this point we were completely oblivious, optimistic (as we still are) parents. Oliver was admitted to hospital for 3 nights to have a g-tube/button surgically attached to his stomach. His feeds would still come from a machine and down a tube, but no longer did we have to contend with plastic tubing and tape in his face, it went instead through a discreet hole on his belly.
Until this moment we were confident all the therapy he was receiving - physical, occupational & speech, would help him overcome his low muscle tone and he would be able to live some what of a 'normal' life.
The surgery seemed to have been a success, until the days and weeks past by. The Oliver that went in for surgery was not the same Oliver that we had at home several weeks later. Our initial hope was it was just the knock on affect of a surgery and the anesthesia still wearing off. He had become much more lethargic, he smiled a lot less, was less receptive when you walked in to the room, it was like his spark had gone.
Oli was under anesthesia for several hours to have the surgery and the MRI. What we've since learned, post diagnosis, is that going under anesthesia for any length of time can have damaging affects for infants with mitochondrial disorder. It saps a lot of the energy they were already running low on.
Post MRI scan was the first time we heard a mention of 'mitochondrial'. Our neurologist pointed out some lightly shaded areas on his brain known as lesions (dead tissue). This was conducive of a mitochondrial disorder, but she didn't want to jump too far ahead and asked that we seek advice from a geneticist.
The wait to see a geneticist in Austin was a whole year! We couldn't wait that long for answers and booked an appointment with a leading pediatric geneticist in Houston a couple of weeks after the scan results.
Up until today, as I'm writing this, we still don't know the full picture and are still waiting on the complete results from the blood tests taken by the geneticist. Mine, Kayli's & Oli's blood was sent away to be analyzed in a gene lab and can take a few months to be processed.
One thing, a very positive thing, to come out of our Houston appointment, was a referral to another doctor who specializes in mitochondrial disorder, one of the the pioneers in her field.
We visited her last month and in no time at all after meeting with Oli she diagnosed the form of mitochondrial disease that he has. Remember me saying there are numerous different types all with different symptoms? We now know that Oli has Leigh's Syndrome.
What we've learned about Leigh's Syndrome, and one of the most difficult aspects for us to accept, is that there is presently no cure. There are treatments and therapies to help prolong life and ease symptoms, but this is something that will never go away. There may be periods of sharp decline, like after Oli's surgery, or periods of temporary restoration of some functions. Eventually, Oli's present symptoms could lead to heart, kidney, vision, and breathing complications, and may eventually take his life.
One of the hardest things for Kayli & I to comprehend is the how and the why? We're both young & healthy, relatively speaking, as far as parenting goes. We have no family history of anything like this - so the biggest question I've always struggled with is how does this happen? Why us?
From the moment Kayli & I met on the beaches of Croatia it's been a fairytale romance and we've been very lucky to lead an exciting, yet comfortable life, full of happiness and adventure. We've been fortunate to face very little pain and sadness in our time up until this point, and now we've been given the biggest test of all. Seeing your child go through this and having the thought in the back of your mind that you may one day have to bury them is the biggest heart ache I think any one can ever endure.
Life can be cruel. Occasionally you may get dealt a bad hand. It’s how you play that hand that really defines the person you are and the life that you’ll live.
Don’t get me wrong, there’s times when I just want to curl up in a ball and cry my eyes out and there’s times where I’m in denial and completely forget about the challenge we’re faced with.
But ultimately we’re lucky for each day we get to spend with Oli and for the lessons that we learn from him because in just 10 months of life he’s already impacted our lives in such a profound way. He adds greater understanding and meaning to what life, love and family are all about. No one is guaranteed any amount of time on this Earth, so cherish each moment and be thankful for the friends and family you have around you.
Count your blessings and chalk up the wins. Right now Oli is bouncing back remarkably well from when he was admitted to hospital last month and we were told he may not have long left to live. His breathing problems are temporarily under control and he's giving us big smiles each and every day. He's an absolute joy to be around.
I am so sorry for all you are going through. I can't begin to imagine the challenges. I pray that God will give you strength and continue to show you how much He loves you and your family.
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