State of Confusion- Part 1
There is a lot going on around here by way of health problems. Earlier this spring, the kids were all diagnosed with Hypermobility Disorder. With more learning, I came to understand that this is not just being super flexible, it's a collagen defect. Without adequate collagen, our entire body suffers; joints, arteries, veins even your organs.
Hypermobility falls into the spectrum of the disease call Ehlers Danlos Syndrome. I have been spending every spare moment trying to understand this disease. It causes the veins and arteries to get lax and blood leaks out. Without collagen, the cells walls are weak. A person with this part of the disease is at high risk for strokes, hemorrhaging, even organs hemorrhaging which obviously leads to immediate death.
Now...don't get lost...It will all connect...
I have talked about some issues I have been having like crazy lumps that have started covering my legs but mostly they cluster around my joints in my legs; knees, ankles...remember the ankle issues this fall? I am convinced it was caused from a pseudo tumor growing at the joint. The steroids they gave me helped it feel better but it's coming back. I have one on my knee too that is growing out of my tendons and pressing on the muscles and nerves...yes it hurts constantly. I also have them growing in my kidney, breasts and lymph nodes.
I was also born with congenital hips. Plain and simple, my hip socket was not developed so my legs were backwards. Yep. Not only that, I was super flexible. I could walk with my toes bent backwards, put my leg behind my head...etc.
I got to wondering if there was a connection between my issues as a child, these lumps I am growing and my kids' issues. Obviously, I gave them at least half of their messed up genes so it only makes sense that something is awry with my genes too even though the symptoms are not as vivid as the kids. That's why they call me a 'carrier'.
So, I have been trying to find a doctor that would take some time to help me piece this puzzle together. This led me to cardiac testing to see if my arteries are strong and clear and if I have any heart abnormalities that are common in Ehlers Danlos/ Connective Tissue Disease. I also had kidney ultrasounds, and ultrasounds of my legs.
With all this, I learned this week that I have connective tissue disease...the lumps are growing where my joints connect and it's a collagen defect. Guess what else...One of the hallmark signs on the spectrum of Ehlers Danlos Syndrome is Congenital Hips!! Eureka!
It also causes:
Kidney masses
Liver masses
Pseudo tumors- they seem like cancerous growths but typically come back negative for cancer
Petechiae
Joint injury
Seizures
Arthritis
Hearing loss
Heart Arrhythmia
All kinds of heart problems
Stretchy skin
Cataracts
The list is long and goes on and on...
I have over half of these symptoms. My kids have just about all of these symptoms or had them like seizures! They were plagued with seizures as children!
Here's where it gets really crazy for me....Do my kids have Ehlers Danlos and NOT Shwachman Diamond Syndrome & Mitochondrial Disease? Incidently, collagen defects also causes bone marrow failure and immune deficiency.
But wait...I just found a recent article outlining the collagen defects in Shwachman Diamond Patients. The gene that causes that also causes connective tissue problems, collagen defects, just like my kids have!!!
Not only that...just about every Mito kid I know also has hypermobility to some degree and connective tissue problems.
So...it's making me crazy! Ehlers Danlos is very interesting because I see some of the issues in other members of my family and from what I've read, the disease worsens with each generation. The life expectancy is only 48 years old! That sort of freaked me out...but my doctor said that would be if you have the serious forms that affect your arteries. So far, my arteries are perfect. I have mitral valve prolapse, another common symptom but it's mild and doesn't cause problems right now. The growth in my kidney is stable.
Just for precaution, my doc put me on a low dose Aspirin and I have to start weening off my Estrogen Replacement which really annoys me...but I'll save that complaint for another post.
The weird thing is, since I have been studying all this...I have met at least 10 more families with an SDS, Mito, Ehlers Danlos combination! I am onto something here, but finding a doc to partner with is going to be tricky!
Hypermobility falls into the spectrum of the disease call Ehlers Danlos Syndrome. I have been spending every spare moment trying to understand this disease. It causes the veins and arteries to get lax and blood leaks out. Without collagen, the cells walls are weak. A person with this part of the disease is at high risk for strokes, hemorrhaging, even organs hemorrhaging which obviously leads to immediate death.
Now...don't get lost...It will all connect...
I have talked about some issues I have been having like crazy lumps that have started covering my legs but mostly they cluster around my joints in my legs; knees, ankles...remember the ankle issues this fall? I am convinced it was caused from a pseudo tumor growing at the joint. The steroids they gave me helped it feel better but it's coming back. I have one on my knee too that is growing out of my tendons and pressing on the muscles and nerves...yes it hurts constantly. I also have them growing in my kidney, breasts and lymph nodes.
I was also born with congenital hips. Plain and simple, my hip socket was not developed so my legs were backwards. Yep. Not only that, I was super flexible. I could walk with my toes bent backwards, put my leg behind my head...etc.
I got to wondering if there was a connection between my issues as a child, these lumps I am growing and my kids' issues. Obviously, I gave them at least half of their messed up genes so it only makes sense that something is awry with my genes too even though the symptoms are not as vivid as the kids. That's why they call me a 'carrier'.
So, I have been trying to find a doctor that would take some time to help me piece this puzzle together. This led me to cardiac testing to see if my arteries are strong and clear and if I have any heart abnormalities that are common in Ehlers Danlos/ Connective Tissue Disease. I also had kidney ultrasounds, and ultrasounds of my legs.
With all this, I learned this week that I have connective tissue disease...the lumps are growing where my joints connect and it's a collagen defect. Guess what else...One of the hallmark signs on the spectrum of Ehlers Danlos Syndrome is Congenital Hips!! Eureka!
It also causes:
Kidney masses
Liver masses
Pseudo tumors- they seem like cancerous growths but typically come back negative for cancer
Petechiae
Joint injury
Seizures
Arthritis
Hearing loss
Heart Arrhythmia
All kinds of heart problems
Stretchy skin
Cataracts
The list is long and goes on and on...
I have over half of these symptoms. My kids have just about all of these symptoms or had them like seizures! They were plagued with seizures as children!
Here's where it gets really crazy for me....Do my kids have Ehlers Danlos and NOT Shwachman Diamond Syndrome & Mitochondrial Disease? Incidently, collagen defects also causes bone marrow failure and immune deficiency.
But wait...I just found a recent article outlining the collagen defects in Shwachman Diamond Patients. The gene that causes that also causes connective tissue problems, collagen defects, just like my kids have!!!
Not only that...just about every Mito kid I know also has hypermobility to some degree and connective tissue problems.
So...it's making me crazy! Ehlers Danlos is very interesting because I see some of the issues in other members of my family and from what I've read, the disease worsens with each generation. The life expectancy is only 48 years old! That sort of freaked me out...but my doctor said that would be if you have the serious forms that affect your arteries. So far, my arteries are perfect. I have mitral valve prolapse, another common symptom but it's mild and doesn't cause problems right now. The growth in my kidney is stable.
Just for precaution, my doc put me on a low dose Aspirin and I have to start weening off my Estrogen Replacement which really annoys me...but I'll save that complaint for another post.
The weird thing is, since I have been studying all this...I have met at least 10 more families with an SDS, Mito, Ehlers Danlos combination! I am onto something here, but finding a doc to partner with is going to be tricky!
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