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Saturday, September 4, 2010

Diagnosed

Yesterday I was diagnosed with a blood disorder called Haemochromatosis. It is a genetic disorder that I have known about most of my life since my dad, 2 uncles, and grandpa all have it. Originally we were told that non of us kids would have it since you usually need 2 genes. One from you dad and one from your mom. When my dad was diagnosed my mom was tested and she does not carry the gene, so I only received one from my dad.

Well last month when running some blood panels with my doctor, my iron came back high. So she sent me to a blood specialist where he ran MORE blood panels along with a genetic test for haemochromatosis and it came back positive. Yay me! I defy odds!

Now it is a very easy disorder to handle, especially if caught early enough. It is basically when your body absorbs to much iron in your blood and does not filter it out correctly. The excess iron and eventually build up in your organs, causing some major problems. In order to correct the iron levels you have to do phlebotomy's. So basically they have you do some blood draws until the excess iron is out of the blood. Then you just have to go back every so often to maintain your levels.

My levels were fairly low. In a normal person the blood saturation percentage is between 15 - 50 %. Mine was 65%. They also have a ferritin serum levels of no more than 50 and mine was at 56. When my dad was diagnosed, his levels were over 100. So for now I'll have to go in and do 1 phlebotomy, then go in a month later to re-test my levels and take it from there!

In a way I am very lucky. We caught it extremely early so the chance of me having any liver damage (the first place iron stores up) is small. Plus we can get my levels under control hopefully with not much treatment. I am hoping as they get older, my little brothers will also get tested so that if by chance they defy odds as well, they can be as lucky as me.

And if I haven't said it before - Thank you Dad for all the wonderful genes!!! Ha ha just kidding, I love you!

1 comment:

jeannesioux said...

Genes. We all have such weird things. I also have a weird little genetic "deviant". I found out a few years ago that I have an elevated homo-systeme level. All you need to do for that is take folic acid the rest of your life. If you have this genetic issue, you are more prone to have strokes. Well, I had one, a mini, but substantial one, in my mind, 5 years ago when we moved here. Then there are the Pack issues, that the kids all know about. My neurologist suggested that the kids might want to at least know that they carry this gene, for future benefit. As you did, all they would need to do is have a blood test. Another gene issue from somewhere on my side of the family is issues with hernias....little boys. One of my brothers was operated on when he was a baby. Sam, our youngest got the gene and was operated on as a 2 yr. old. I believe this one comes in on the Woolley side.
Anyway, I'm glad it is as simple as this with you. It is a bit weird however when you find out that you have something odd. I guess we all do, really. : )