Tuesday, February 28, 2017

National Rare Disease Day

How many people do you know that has a rare disease?

How many Rare disease do you have?

Is your Rare disease Genetic?

National Rare Disease day is a day to bring awareness to Rare Disease that affects more than  Million people Worldwide.

Having a Rare disease can be a challenge, living with the unknown of the disease. It leads you to wonder about your quality of life and health status, how does it affect your family, how does it affect you.

For me I don't chose to live in the unknown of my disease, I chose to thrive with the disease. Diagnosed at aged 5 with Common Variable Immune Deficiency, however I also have other rare diseases that pushes me out of the circle of CVID.

I also have Evans Syndrome and Severe Hemolytic Anemia, both of which are very rare that there's no real statistic to how many are affected by these diseases.

As of right now, my diseases are not caused by genetics but with the advancement of modern technology and the evolution of the Genome project that my genetics can be pinpointed. Neither of my parents were carriers of any sorts and we had an genetic counseling when I was much younger than 5 because I kept getting sick.

I've pretty much live with these rare diseases my whole life, and I've had my ups and downs with these diseases. However I do therapy called Immunoglobulin Therapy, other terms that is used to represent my Therapy is IVIG or Infusion. I have been doing my infusions since 1999 and is done every 21 days.

Without this IVIG, I'd probably would not be here today or would be as healthy as I am today. I am considered to be an Healthy ZEBRA. Healthy Zebras are able to go out and do things like a normal person.

Now yes I said IV(Intravenous) however my route of getting my IVIG is through my Port-a-Cath that was placed in 2000. Believe it or not I still have that very same port.

YES you read that right, I still have the same port, this port is 16 years old and working great. Sure it had a little downfall last summer 2016 but that was resolved using TPA.

This blog is basically an insight on how I live with my Rare Disease(s), although it has some ups and downs. Living with this has become my lifestyle and I don't think I could ever imagine living without it. ALTHOUGH YES Cure(s) is a great thing but then does that change who you are or who you were with the disease?

I would love to have my IVIG be spread out longer in the year rather than have 13-15 infusions a year. There's research on trying to make our way of life better and not have to do frequent IVIG or Sub-Q which is a new route for many people.