Cause I Was Born This Way

January the month I was born and is also birth defects awareness month. Although you cannot tell by looking at me, I have a birth defect. I was clueless that I had a birth defect until days before my 20th birthday. A severe kidney infection eventually led me to a cystoscope, also known as a bladder scope. When I woke up, surprise! You were born with a few extra parts, specifically an extra kidney (supernumerary it overlaps my other one) and an extra urethra (they are twisted tightly around one another).

I had never heard of anyone having an extra kidney. Birth defects are more common than the average individual thinks. According to the CDC, “Every 4 ½ minutes, a baby is born with a major birth defect in the United States.” Shockingly, it has been reported that only 10% of birth defects are caused by environmental factors such as drugs, infection, or exposure to radiation. The more reading I have done the more that I have learned that it is common for an individual to be born ‘different’ living typically than in late adolescent to their early 20’s discover either a birth defect or genetic defect. It is vital to highlight, that while prenatal care is essential it is not a guarantee. Furthermore, if a child has a birth defect or genetic defect, it does not mean that the mother did something wrong.

Expectant Mama, please do the best that you can do ensure that your precious baby is healthy. I encourage you to seek medical attention as necessary to keep up with things. In addition, take the vitamins you and the baby needs. Exercise. Furthermore, talk to other Mama to get additional advice. You will have peace of mind knowing you did all you could to contribute to your baby’s health. Commit to Healthy Choices to Help Prevent Birth Defects. There are valuable resources on the internet worth looking at,Learn about the policies impacting children’s health care provides information on children health coverage.

More on a random birth defect note, I also have two extra bones that we are aware of.

Okay, I know I just took a turn by throwing in the genetic defect, but I figured it is an additional topic that doesn’t get nearly enough exposure. “There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births.” The majority of these disorders are considered rare.

I had been told from a young age that I was rare from medical professionals. Additionally, my doctor growing up would always laugh while telling me I was just weird or different. Therefore, I believed I was odd without a reason.Symptoms would be visible at school and my peers would question me, to which I would simply respond that I was different and there was nothing to worry about.

In Kindergarten we were watching a video about bears. They had told us bears can touch their nose with their tongue but people can’t. The teacher paused the video and encouraged everyone to try proving the point the video made. However, I was able to like the bear touch my nose with my tongue. Of course, my new trick was amusing.

Then around middle school, my mom noticed my back was not straight to the point my right arm is about 8 inches longer than my left. I had a lot of strange little things. However, it wasn’t really until recently that I became aware how odd these little corks are.

PicMonkey Collage.jpg

I began having bleeding issues when I began my first Remicade. I bleed into the line. I honestly thought the PA did something incorrect. However, it happened again with my second treatment. Then I began bleeding at home. About two weeks ago I found a graphic that talked about bruising with Ehlers- Danlos Syndrome. The light bulb when off. I asked around if an individual could bleed with it and they can.

“Ehlers- Danlos Syndrome is a collection of inherited conditions that fit into a larger group, known as heritable disorders of connective tissue. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs, and bones. Ehlers-Danlos Syndrome is known or thought to alter the biology of collagen in the body (the most abundant protein), which can lead to multi-systemic symptoms.”

The main types of EDS are as follows Hypermobility, Classical, Vascular, Kyhoscoliosis, Arthrochalasia, and Dermatosparaxi.

I e-mailed my one doctor who to my surprise agreed that this is an excellent theory to explain the missing puzzle piece. Unfortunately, I won’t know for certain until March, which is when I see the Geneticist.

Some of my EDS symptoms that indicate EDS include, but are not limited to mitral valve prolapse, unstable joints, dislocating joints (at least half a dozen times a day), hyperextending, and easy bruising. There is a multitude of symptoms associated with EDS. In addition, this explains why my POTS is not typical.

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