Some of you that I've talked to may know about the illness I've been struggling with for the past 2 years.
As of today some real progress towards a diagnosis has finally been made so I thought I'd share.
For those who don't know me, around 2 years ago I started getting pain in my both lower legs, I'm 21 years old now.
The pain gradually got worse and hasn't gone away since. I'm in pretty horrible pain literally day in day out.
I'm prescribed the maximum dosage of an opiate painkiller (Tramadol) but it only makes the pain a bit bearable.
Around a year ago I also started muscle cramps in my legs that also gradually worsened over time.
In August, I lost the ability to ride my bicycle due to the severe cramps. Even walking up a set of stairs gives me slight cramps.
More recently it has started to happen in my upper arms as well but not nearly as severe.
A few months ago I also started experiencing breathing problems which have gotten very severe now.
I can no longer talk properly. My voice changes pitch and I have to constantly catch my breath while talking, especially if I'm moving at the same time. Many physical activities are now extremely exhausting to me.
Before these problems started I was in great shape, going to the gym multiple times a week and fairly muscular.
I've had to give up school and pretty much all outside my hobbies (cycling, fitness, partying, ...)
So that's essentially a short summary of my symptoms that I've been struggling with.
I saw a lot of doctors but nobody provide answers why this was happening to me. Eventually I was referred to a special team of doctors at the university hospital of Ghent that specialize in resolving cases when other options have been exhausted. Exactly like Dr. House's team on House MD. I got to meet them in October 2015 and they immediately made some progress through some non-standard bloodtests.
They found that I have around 80 times the normal count of a muscle degenerating substance in my blood. The average value of this substance is around 180, I tested around 15500.
I had a muscle biopsy in november because the doctors suspected a muscle disease but the results came back negative. No significant abnormalities.
The specialists now suspect an auto-immune disease. Earlier this week I took a lungtest (spirometry) and ct-scan of my lungs for my breathing problems. As it turns out my lungs are in perfect condition and my oxygen intake is excellent, above average even.
The doctor taking the test said since my lungs are fine, the symptoms are likely due to my heart being damaged in some way.
This is pretty bad news obviously but over the years I've grown to kind of expect it so it honestly doesn't bother me much anymore.
I called my specialist to schedule an appointment with a cardiologist but to my surprise I also got some good news.
Earlier in january I took a few more bloodtests and they have now found something significant that will likely lead to a diagnosis at long last.
The specialist said they found a strong deviation in my carnitine levels in my blood.
Next week I need to draw blood again but this time it's because they will run a DNA test for 1 single specific gene.
The DNA testing will take several months but the results should be in before the summer. The team is confident that they will be able to confirm a diagnosis with the DNA test.
That's unfortunately all I know for now so I don't know if the disease they suspect is relatively good or terrible.
It's a huge relief that some answers are finally in sight though so I wanted to share that.
Feel free to ask me anything if you have questions.
Update 11/02/2016:
[font=arial, helvetica, sans-serif]Went to the cardiologist today to test my heart. It's in good condition thankfully. Still no clue as to how I'm having such severe breathing problems.[/font]
[font=arial, helvetica, sans-serif]I went to draw blood for my DNA test as well today. Had a good look at the order for the test and the doctor checked the "confirm diagnosis" box as a reason for the test. So they have to be pretty sure about it.[/font]
[font=arial, helvetica, sans-serif]I also got to see what the suspected diagnosis they're testing for. The order said CPT II[/font]
[font=arial, helvetica, sans-serif]https://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency[/font]
As of today some real progress towards a diagnosis has finally been made so I thought I'd share.
For those who don't know me, around 2 years ago I started getting pain in my both lower legs, I'm 21 years old now.
The pain gradually got worse and hasn't gone away since. I'm in pretty horrible pain literally day in day out.
I'm prescribed the maximum dosage of an opiate painkiller (Tramadol) but it only makes the pain a bit bearable.
Around a year ago I also started muscle cramps in my legs that also gradually worsened over time.
In August, I lost the ability to ride my bicycle due to the severe cramps. Even walking up a set of stairs gives me slight cramps.
More recently it has started to happen in my upper arms as well but not nearly as severe.
A few months ago I also started experiencing breathing problems which have gotten very severe now.
I can no longer talk properly. My voice changes pitch and I have to constantly catch my breath while talking, especially if I'm moving at the same time. Many physical activities are now extremely exhausting to me.
Before these problems started I was in great shape, going to the gym multiple times a week and fairly muscular.
I've had to give up school and pretty much all outside my hobbies (cycling, fitness, partying, ...)
So that's essentially a short summary of my symptoms that I've been struggling with.
I saw a lot of doctors but nobody provide answers why this was happening to me. Eventually I was referred to a special team of doctors at the university hospital of Ghent that specialize in resolving cases when other options have been exhausted. Exactly like Dr. House's team on House MD. I got to meet them in October 2015 and they immediately made some progress through some non-standard bloodtests.
They found that I have around 80 times the normal count of a muscle degenerating substance in my blood. The average value of this substance is around 180, I tested around 15500.
I had a muscle biopsy in november because the doctors suspected a muscle disease but the results came back negative. No significant abnormalities.
The specialists now suspect an auto-immune disease. Earlier this week I took a lungtest (spirometry) and ct-scan of my lungs for my breathing problems. As it turns out my lungs are in perfect condition and my oxygen intake is excellent, above average even.
The doctor taking the test said since my lungs are fine, the symptoms are likely due to my heart being damaged in some way.
This is pretty bad news obviously but over the years I've grown to kind of expect it so it honestly doesn't bother me much anymore.
I called my specialist to schedule an appointment with a cardiologist but to my surprise I also got some good news.
Earlier in january I took a few more bloodtests and they have now found something significant that will likely lead to a diagnosis at long last.
The specialist said they found a strong deviation in my carnitine levels in my blood.
Next week I need to draw blood again but this time it's because they will run a DNA test for 1 single specific gene.
The DNA testing will take several months but the results should be in before the summer. The team is confident that they will be able to confirm a diagnosis with the DNA test.
That's unfortunately all I know for now so I don't know if the disease they suspect is relatively good or terrible.
It's a huge relief that some answers are finally in sight though so I wanted to share that.
Feel free to ask me anything if you have questions.
Update 11/02/2016:
[font=arial, helvetica, sans-serif]Went to the cardiologist today to test my heart. It's in good condition thankfully. Still no clue as to how I'm having such severe breathing problems.[/font]
[font=arial, helvetica, sans-serif]I went to draw blood for my DNA test as well today. Had a good look at the order for the test and the doctor checked the "confirm diagnosis" box as a reason for the test. So they have to be pretty sure about it.[/font]
[font=arial, helvetica, sans-serif]I also got to see what the suspected diagnosis they're testing for. The order said CPT II[/font]
[font=arial, helvetica, sans-serif]https://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency[/font]
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