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.

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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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Med Changes

Chemotherapy. One of those words with plenty of weight. Plenty of assumptions attached to it. For example, only Cancer patients receive it, this is a  myth. It is only a word. Only a medication designed to assist an individual in some way. Autoimmune diseases are treated with low dose chemotherapy. Chemo suppresses the immune system and helps inflammation.

Personally, I have encountered three chemos to date to attempt to control my illnesses. First I did methotrexate self-injection. Than Mercaptopurine was added. (This combination is not advised.) I couldn’t handle that for long so we made the switch to  just Mercaptopurine.

I stopped Mercaptopurine the end of last month. Medication changes are challenging. Needless to say, it can increase pain and symptoms. It is a difficult medication to start and to stop. Though I am not a fan it did suppress my immune system some, therefore, stopping it increased pain. However, it was worth it because I have begun my journey with Remicade.

Remicade is a biologic which is received through an infusion. It can be used to treat Chrons, Ulcerative Colitis, Rheumatoid Arthritis, Psoriatic Arthritis, Ankylosing Spondylitis, and Plaque Psoriasis. Remicade suppresses the immune system, similar to other medications used to treat autoimmune disorders. Most times, to qualify for a biologic an individual must fail other treatments or have difficulties getting off steroids. The Remicade web page provides additional helpful information.

The first three infusions are loading doses and are given every two weeks. I had my first Remicade infusion November 8th (but I have been on another biologic and received other medications via an infusion). Personally, I pre-medicate in the car on my way to the infusion center. An hour before I take Prednisone, Benadryl, and Tylenol. The infusion lasts a total of three hours. I had nurses and a PA adjusting the speed of the Remicade every few minutes. In addition, they monitored my vitals.I felt beyond wiped out afterward as if the life was sucked out of me.

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That evening I was extremely achy. In addition, I had high pain in the lower right side of my abdomen. I was in bed by nine pm. However, that is the extent of the side effects I experienced. The joint pain was slightly better for a few days. I get my second loading dose soon. Eight weeks is the time frame that an individual should start to encounter improvement.

My next infusion is in a few days. I am extremely tired. The pain levels have returned to preinfusion. The weather isn’t helping any. The pressure is dropping. Additionally, we are expecting a mix of rain and snow. All in all, I am ready for my second infusion. Things feel much more hopeful on Remicade.

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Ulcerative Colitis Update

This flare began about a week ago. My liver enzymes are high again, though not nearly as bad as in the past. The theory is that this is from my immune system attacking it. The major difference is that this time I am still on 15 mg of prednisone, which I also refer to as my safety net. The pain has been extremely intense this weekend. With these flares, it feels like being hit by a bus I know it sounds dramatic, but the intensity is hard to describe. The main issue is the abdominal area. Evey joint hurts, my ears ache,I have the chills and nausea. Of course, the fatigue is 50x’s worse than normal.

My Gastro retired last month and that was heartbreaking. She was the first gastro I had trusted and had compassion. I saw the new gastro on Friday and it was nerve-racking, to say the least. I am not a fan of seeing new doctors because my case is complex. I was relieved that this doctor had listened, was up to date on my medical mess, had some compassion, and was ready to start something new.

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Most of you know that in addition to Lupus and POTS I have Ulcerative Colitis. Eating has been a struggle when the Prednisone is lower than 15 mg. Currently, I am on a combination of two anti-inflammatories, Prednisone, and Mercaptopurine (a chemo also known as 6mp). The goal for any chronic illness patient is to come off Prednisone. In my case dropping to 5 mg or coming off means going into the hospital. This is a common issue for people with a chronic illness. I know I am not alone in this struggle. #It’s A Spoonie Life! Thankfully, I have been blessed and have not suffered major side effects from Prednisone. 6MP is my second chemo. I am not a fan. I have had no improvement on it.

With all that being said I got the extremely exciting news that I do qualify for a biologic (which I knew). And of course, my new gastro feels it is time to begin the testing and paperwork. Testing include normal labs CBC, Comprehensive Metabolic Panel, and Hep Panels. In addition, TB testing is required. At the same time, insurance paperwork is started. I will be on Remicade. I will be writing a Remicade blog post soon!

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A huge thank you to everyone who participated in invisible illness awareness week! I was honored to be involved, but I wish I could have done more.

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