Curve Balls
I've been MIA here for the past few weeks, not because I'm bored or busy making great things happen. Nope, just trying to stay afloat. It's been a whirlwind of life and as usual, has caught me off guard. I don't know why I become so painfully confused when life happens so fast but I do.
I knew this past month would be a rough one with so many trips to Salt Lake planned but it was really much harder than I anticipated. Shelbie was sick for the entire month of October. Really sick. She had two rounds of antibiotics, breathing treatments and still, she's not entirely better. She has what looks like Pink Eye except its not. That would be the easy thing, she has an autoimmune condition where she gets a really bad inflamed sclera, the white part of her eye. It has been going on for so long that she is now starting to have really bad vision in the eye that is affected.
Last week, we suffered a couple of major blows. Shelbie was asked to participate in a genetic study through our Neuro-Immunologist,to see if they could identify any genes that would explain her epilepsy. I didn't think anything of it and of course, Shelbie donated the blood for the test. We have done so much genetic work, I couldn't imagine this tiny little company would find anything that the National Institute of Health couldn't find. Well, they did. Shelbie has a gene mutation in the TREX1 gene as well as a gene mutation called AGS. The AGS mutation is the serious one. As I read through the report it explains every single one of Shelbie's health conditions...thrombocytopenia, strokes, epilepsy, neutropenia, meningitis without a viral or bacterial cause, thyroid dysfunction, decreased white matter in the brain along with all the neurological problems she is experiencing. As an infant, it manifested itself with failure to thrive, fevers without explanation, fevers now for that matter! The list goes on. I was absolutely floored when I read the results. We got them November 1.
Needless to say, it was a sad day. It's such an unexplained feeling to read news like this. It's not like anything changes for us. There is no treatment, no cure; life expectancy is shortened. It's rare- less than 400 reported cases in the world and it is autosomal recessive. I had a moment and thought I was done but the following morning, it was a different story. I was taking down all the Halloween decorations and packing boxes down to the storage room when I realized the furnace was not working. That was the last straw and I had melt down to beat all melt downs. It's going to be at least another three weeks before the furnace is replaced so it's been a cold week to say the least.
Anyways, last Monday, Spencer had a procedure in which nearly a dozen biopsies were taken from his throat down to his small intestine. He is one sick young man. He has lesions all down his esophagus, polyps in his stomach and small intestine as well as nodules all throughout his small intestine and a great deal of inflammation. They also discovered that the contents of his intestine is backing up into his stomach! No wonder he is so sick. We are waiting on pathology and they will be doing a pill cam test as soon as insurance approves it to try to determine why he is having such bad motility problems among other things. A week later, Spencer still isn't feeling very good and is having a really hard time swallowing even water.
This week, we will be meeting with our Neuro-Immunologist to go over Shelbie's new genetic discovery. The boys will also be meeting with her for the first time. This week, Shelbie will also have a series of scans because they found a mass in her abdomen last month and she is having lung problems so they will be checking to see if her tumors have gotten bigger.
Anyways...that's life in a nutshell. It's crazy! There is no end to the crazy. We've got a few more weeks of this.
It's making me question life again. Work is next to impossible right now. I'm just not sure what to do about it. So, for now, I'm just praying I can keep up with everything. I've been so tired and run down and fighting my own recurrent health problems. But, through it all, I am trying to keep the faith and give us room to handle things in whatever form it takes.
I knew this past month would be a rough one with so many trips to Salt Lake planned but it was really much harder than I anticipated. Shelbie was sick for the entire month of October. Really sick. She had two rounds of antibiotics, breathing treatments and still, she's not entirely better. She has what looks like Pink Eye except its not. That would be the easy thing, she has an autoimmune condition where she gets a really bad inflamed sclera, the white part of her eye. It has been going on for so long that she is now starting to have really bad vision in the eye that is affected.
Last week, we suffered a couple of major blows. Shelbie was asked to participate in a genetic study through our Neuro-Immunologist,to see if they could identify any genes that would explain her epilepsy. I didn't think anything of it and of course, Shelbie donated the blood for the test. We have done so much genetic work, I couldn't imagine this tiny little company would find anything that the National Institute of Health couldn't find. Well, they did. Shelbie has a gene mutation in the TREX1 gene as well as a gene mutation called AGS. The AGS mutation is the serious one. As I read through the report it explains every single one of Shelbie's health conditions...thrombocytopenia, strokes, epilepsy, neutropenia, meningitis without a viral or bacterial cause, thyroid dysfunction, decreased white matter in the brain along with all the neurological problems she is experiencing. As an infant, it manifested itself with failure to thrive, fevers without explanation, fevers now for that matter! The list goes on. I was absolutely floored when I read the results. We got them November 1.
Needless to say, it was a sad day. It's such an unexplained feeling to read news like this. It's not like anything changes for us. There is no treatment, no cure; life expectancy is shortened. It's rare- less than 400 reported cases in the world and it is autosomal recessive. I had a moment and thought I was done but the following morning, it was a different story. I was taking down all the Halloween decorations and packing boxes down to the storage room when I realized the furnace was not working. That was the last straw and I had melt down to beat all melt downs. It's going to be at least another three weeks before the furnace is replaced so it's been a cold week to say the least.
Anyways, last Monday, Spencer had a procedure in which nearly a dozen biopsies were taken from his throat down to his small intestine. He is one sick young man. He has lesions all down his esophagus, polyps in his stomach and small intestine as well as nodules all throughout his small intestine and a great deal of inflammation. They also discovered that the contents of his intestine is backing up into his stomach! No wonder he is so sick. We are waiting on pathology and they will be doing a pill cam test as soon as insurance approves it to try to determine why he is having such bad motility problems among other things. A week later, Spencer still isn't feeling very good and is having a really hard time swallowing even water.
This week, we will be meeting with our Neuro-Immunologist to go over Shelbie's new genetic discovery. The boys will also be meeting with her for the first time. This week, Shelbie will also have a series of scans because they found a mass in her abdomen last month and she is having lung problems so they will be checking to see if her tumors have gotten bigger.
Anyways...that's life in a nutshell. It's crazy! There is no end to the crazy. We've got a few more weeks of this.
It's making me question life again. Work is next to impossible right now. I'm just not sure what to do about it. So, for now, I'm just praying I can keep up with everything. I've been so tired and run down and fighting my own recurrent health problems. But, through it all, I am trying to keep the faith and give us room to handle things in whatever form it takes.
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