Good or Bad...hard to say.
We've had some tumultuous days around here as of late.
Last week, Spencer got a call from the U of U Cardiology saying that his heart had been showing some signs of abnormal rhythms so they called in a prescription for him to take. Spencer didn't get all of the details so he was a little more than confused. He's been having off rhythms for what seems like forever and they never do anything about it or even seem concerned so, we too, shake it off.
Well, apparently this is not something to shake off. He had an event, called Non-sustained Ventricular Tachycardia. It is considered to be a very dangerous heart rhythm. Spencer felt it and knew he was in trouble. He had asked me to follow up with the nurse so I did. After I had got off the phone with the nurse, I wasn't quite sure what to do. I didn't want to call and alarm Spencer, but I also wanted to stress the importance of taking the medication.
This is one of those things where it is completely out of my control. I thought about crying for a day or two in frustration and anger but quickly realized there was nothing to gain from that...though in an effort to be transparent, the tears came a few days later. Instead of immediately crying, I tried to remember that God has his life figured out and at the first sign of trouble, he is working on a solution. I have no idea what that will be but I also have no reason to believe the blessings will stop now.
There are moments in the day when the nurses' words ring through my head..."The doctor is very concerned about what he's seeing." and I get a little panicked. I'm thankful that they are watching out for Spencer and that his pacemaker is monitoring things 24/7. We have yet to see how this is going to work out.
Along the same lines, we have had some new health developments...To make a long story short, my dad has been diagnosed with a Mitochondrial Disease. We found out about 6 weeks ago. He was diagnosed through a muscle biopsy which is the gold standard for diagnosing this rare condition. As we begin to look back through our family history, it's clear to see how this has manifested itself through each generation.
I went back through all of our records and found the genetic testing we did on my kids in 2011, for mitochondrial disease. They were all positive for a gene mutation called Lebers Hereditary Optic Neuropathy. LHON for short. Back in 2011, the gene was controversial. Some researchers believed there had to be two LHON mutations in order to be disease producing. Other's felt one mutation caused disease. So, we went without any real answers or treatment, although there is no cure for Mito disease and it can be ugly. Even I have many, many symptoms of mito disease.
The literature today has shown that one gene does cause several disease states and as I read it, it sounded like all three of my kids, including Shelbie. It causes seizures and strokes! It seems impossible that we are dealing with yet another road block and I wondered how in the world my kids can have three completely unrelated, rare genetic diseases. My theory is that the mitochondrial mutations caused the genetic information in the DKC1 gene to become mutated because if the cells don't have enough energy from the mitochondria to become what it needs to, it will be mutated, hence the Dyskeratosis Congenita mutation.
I've emailed several of our top docs about this, including our favorite Dr. S in Boston and she agreed that this is a strong possibility. So. now we wait. As you know, nothing moves swiftly in medicine, especially rare disease.
We are hanging tight. I worry a little every day about Spencer but trying so hard to keep the faith! .
Last week, Spencer got a call from the U of U Cardiology saying that his heart had been showing some signs of abnormal rhythms so they called in a prescription for him to take. Spencer didn't get all of the details so he was a little more than confused. He's been having off rhythms for what seems like forever and they never do anything about it or even seem concerned so, we too, shake it off.
Well, apparently this is not something to shake off. He had an event, called Non-sustained Ventricular Tachycardia. It is considered to be a very dangerous heart rhythm. Spencer felt it and knew he was in trouble. He had asked me to follow up with the nurse so I did. After I had got off the phone with the nurse, I wasn't quite sure what to do. I didn't want to call and alarm Spencer, but I also wanted to stress the importance of taking the medication.
This is one of those things where it is completely out of my control. I thought about crying for a day or two in frustration and anger but quickly realized there was nothing to gain from that...though in an effort to be transparent, the tears came a few days later. Instead of immediately crying, I tried to remember that God has his life figured out and at the first sign of trouble, he is working on a solution. I have no idea what that will be but I also have no reason to believe the blessings will stop now.
There are moments in the day when the nurses' words ring through my head..."The doctor is very concerned about what he's seeing." and I get a little panicked. I'm thankful that they are watching out for Spencer and that his pacemaker is monitoring things 24/7. We have yet to see how this is going to work out.
Along the same lines, we have had some new health developments...To make a long story short, my dad has been diagnosed with a Mitochondrial Disease. We found out about 6 weeks ago. He was diagnosed through a muscle biopsy which is the gold standard for diagnosing this rare condition. As we begin to look back through our family history, it's clear to see how this has manifested itself through each generation.
I went back through all of our records and found the genetic testing we did on my kids in 2011, for mitochondrial disease. They were all positive for a gene mutation called Lebers Hereditary Optic Neuropathy. LHON for short. Back in 2011, the gene was controversial. Some researchers believed there had to be two LHON mutations in order to be disease producing. Other's felt one mutation caused disease. So, we went without any real answers or treatment, although there is no cure for Mito disease and it can be ugly. Even I have many, many symptoms of mito disease.
The literature today has shown that one gene does cause several disease states and as I read it, it sounded like all three of my kids, including Shelbie. It causes seizures and strokes! It seems impossible that we are dealing with yet another road block and I wondered how in the world my kids can have three completely unrelated, rare genetic diseases. My theory is that the mitochondrial mutations caused the genetic information in the DKC1 gene to become mutated because if the cells don't have enough energy from the mitochondria to become what it needs to, it will be mutated, hence the Dyskeratosis Congenita mutation.
I've emailed several of our top docs about this, including our favorite Dr. S in Boston and she agreed that this is a strong possibility. So. now we wait. As you know, nothing moves swiftly in medicine, especially rare disease.
We are hanging tight. I worry a little every day about Spencer but trying so hard to keep the faith! .
Wow. That must be quite a bit to swallow, especially for you. I'm sorry for the continual blows and so I admire your perspective and perseverance.
ReplyDelete