Living with Homocystinuria: A Disease I Never Knew I Had

March 14, 2016

I was diagnosed with Homocystinuria when I was 31-years-old. Two years before this, I had suffered a DVT in my right leg and a pulmonary embolism. There was no explanation from the doctors as to why this happened. I had also been sick a lot that year, becoming dehydrated often and unable to recover from illnesses like the average person. My doctor decided to send me to a hemotologist to get some answers and that is when I was diagnosed.
I get told often how lucky I am to be alive. I had no idea that I had this disease but always felt off my whole life. I had been very sick, always catching any germ that was being passed around at school, feeling extra sick after eating, always feeling weak and tired and had a very hard time recovering from any illness.

I am now on a low protein diet. This wasn’t that hard for me to adapt to because I was never a fan of meat or eggs. I believe it was my body naturally knowing that protein was not good for me. I have to take a lot of medications, go in for INR check-ups at least twice a month and see my specialists every few weeks. At times this disease has become overwhelming, but I have managed to just take each day as it comes.

I have a 6-year-old son who needs his mommy so even when I am very sick, my levels are too high and I have to go back in for the third time in two days to the hospital for testing, and even when I am feeling like I just can’t do it anymore I look at him and push through it all. I know I’ve gotta keep going, I have so much to live for!

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