The verdict is in
Well, it has been an emotional day and a long day. We spent hours with our new Mito/Neurological doctor Dr. Saneto. I have never met such an amazing doctor. He had every single quality I love in a doctor. He was super friendly, had a great sense of humor and was patient and answered every single one of my questions. He used a lot of analogies to help the kids understand what all this mito stuff is about along with pictures on a big white board. The kids were very attentive and could grasp what he was saying...at first anyways...after several hours, their focus had waned.
There is no question in his mind that my kids have mitochondrial disease in addition to Shwachman Diamond Syndrome. This explains Spencer's muscle problems that he has been plagued with, the fainting spells, extreme fatigue, his gallbladder failure last fall and strange things dating back to the first two weeks of his life on earth including his seizures, and his underdeveloped larynx. It explains why Shelbie sleeps for 18 hours a day, why she can only wear 5 inch heels;her nerves are tethered in her legs, daily headaches, chest pain and her list goes on and on as well. It explains why Samuel is in the 99th percentile for perception but only 5th percentile for processing. He said these are the hallmark features of Mito disease and nearly all of his mito patients have these learning disabilities. It was such a strange feeling to see pieces of this twisted puzzle fall gently into their place after so many years of other doctors just scratching their heads.
The mitochondria are the powerhouse cells that make every single organ and process in your body work. Food is like the gas in a car, mitochondria is the engine. Mitochondria takes the food and converts it to energy. In simple terms, my kids have poorly formed mito cells in the nucleus so it doesn't convert the food effectively to energy. They do fine if they are only cruising along in life at 10 or 15 mph but as soon as they try to accelerate...there isn't enough cell energy to make things function properly. Obviously, there is so much more but I'm just not sure I can address that all right now.
There is no cure, there is no way to reverse the damage already done. They will begin what is called the 'Mito Cocktail' right away. It is his hope that this will improve their quality of life in some small ways and possibly slow the disease process. There is also a big chance that it won't work. We will know in 3-4 months. He was hopeful. He said there is a new drug being developed and is in the beginning phases of FDA approval. It would take the place of the mito cocktail and they are seeing promising results for prolonging and extending life expectancy.
Enough of that....emotionally, I am tired, discouraged and really sad. This feels exactly like the day I found out the kids had SDS. My footing is gone, now it just feels like a free fall through uncertainty. I know that the next 4-6 months will be nothing more than a foggy walk through this setback in an attempt to re establish something of a normal life and get use to the new cocktail and the financial burden it adds to our already next to nothing resources. It's really hard for me to not worry about the future but the moment is where I need to stay.
The day has not been without some blessings and I know that God has been orchestrating this day for a long time. Last year, the kids and I were prompted to go to a fundraiser at Red Robin for a family who have two boys with Mito disease. We met them and immediately made connections with them. Their doctors are in Seattle, the same ones we see! We emailed off and on but I lost contact with her through the winter. When we got back to the hotel tonight, there in my inbox was a message from her! She asked how we were doing and for some odd reason, attached to her email was a list of resources where she buys all the products for the mito cocktail and has researched the best prices. It makes no sense why she would have done that, she doesn't even know that all this has developed or was even in question. The most she knows about us is that we have SDS. As much as I hate this, God is here, already helping me get things started for the kids and how can I be anything but thankful for that? I can feel his presence and I am glad for that.
The kids' dad is here today and for part of tomorrow before he has to go home so when we left the hospital, I let him take the kids to get dinner so I could have a few minutes to just sit and try to process all this. I need to show a hopeful, positive attitude to the kids to get them through this really tough time and I needed those moments to start formulating my plans.
This has been my biggest fear...what else can I say...
There is no question in his mind that my kids have mitochondrial disease in addition to Shwachman Diamond Syndrome. This explains Spencer's muscle problems that he has been plagued with, the fainting spells, extreme fatigue, his gallbladder failure last fall and strange things dating back to the first two weeks of his life on earth including his seizures, and his underdeveloped larynx. It explains why Shelbie sleeps for 18 hours a day, why she can only wear 5 inch heels;her nerves are tethered in her legs, daily headaches, chest pain and her list goes on and on as well. It explains why Samuel is in the 99th percentile for perception but only 5th percentile for processing. He said these are the hallmark features of Mito disease and nearly all of his mito patients have these learning disabilities. It was such a strange feeling to see pieces of this twisted puzzle fall gently into their place after so many years of other doctors just scratching their heads.
The mitochondria are the powerhouse cells that make every single organ and process in your body work. Food is like the gas in a car, mitochondria is the engine. Mitochondria takes the food and converts it to energy. In simple terms, my kids have poorly formed mito cells in the nucleus so it doesn't convert the food effectively to energy. They do fine if they are only cruising along in life at 10 or 15 mph but as soon as they try to accelerate...there isn't enough cell energy to make things function properly. Obviously, there is so much more but I'm just not sure I can address that all right now.
There is no cure, there is no way to reverse the damage already done. They will begin what is called the 'Mito Cocktail' right away. It is his hope that this will improve their quality of life in some small ways and possibly slow the disease process. There is also a big chance that it won't work. We will know in 3-4 months. He was hopeful. He said there is a new drug being developed and is in the beginning phases of FDA approval. It would take the place of the mito cocktail and they are seeing promising results for prolonging and extending life expectancy.
Enough of that....emotionally, I am tired, discouraged and really sad. This feels exactly like the day I found out the kids had SDS. My footing is gone, now it just feels like a free fall through uncertainty. I know that the next 4-6 months will be nothing more than a foggy walk through this setback in an attempt to re establish something of a normal life and get use to the new cocktail and the financial burden it adds to our already next to nothing resources. It's really hard for me to not worry about the future but the moment is where I need to stay.
The day has not been without some blessings and I know that God has been orchestrating this day for a long time. Last year, the kids and I were prompted to go to a fundraiser at Red Robin for a family who have two boys with Mito disease. We met them and immediately made connections with them. Their doctors are in Seattle, the same ones we see! We emailed off and on but I lost contact with her through the winter. When we got back to the hotel tonight, there in my inbox was a message from her! She asked how we were doing and for some odd reason, attached to her email was a list of resources where she buys all the products for the mito cocktail and has researched the best prices. It makes no sense why she would have done that, she doesn't even know that all this has developed or was even in question. The most she knows about us is that we have SDS. As much as I hate this, God is here, already helping me get things started for the kids and how can I be anything but thankful for that? I can feel his presence and I am glad for that.
The kids' dad is here today and for part of tomorrow before he has to go home so when we left the hospital, I let him take the kids to get dinner so I could have a few minutes to just sit and try to process all this. I need to show a hopeful, positive attitude to the kids to get them through this really tough time and I needed those moments to start formulating my plans.
This has been my biggest fear...what else can I say...
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