Seriously, I Can’t Hear You

I can’t hear you. Could you please repeat that? No, I did not hear you come in. I am completely serious, though it is hard to believe at twenty-three. I previously blogged at my hearing loss mentioning a couple unstable theories. Shortly after, receiving my HHT diagnosis, I was told I needed my hearing checked. The doctor who relayed the message was skeptical because she had been on my case for a brief amount of time and was unaware that I had issues hearing. To be fair, the doctor who ordered it was never told either. Simply, because it never came up, furthermore, it did not seem relevant

I went through an intense hearing test while I was having no trouble hearing. I found out a few days later that I have extremly mild bilateral hearing loss. However, was not mentioned at the appointment, I am guessing because it is so minor. There isn’t anything to do, but it is a great thing to know.

If you went undiagnosed for any significant amount of time you understand the value of a reason for dictating symptoms. Though there are an overwhelming amount of questions at times without answers, having a name to the monster helps. The name doesn’t not by any means make the road any easier it just makes someone feel validated in their bodies rebellion.

 

1 in 5,000

We always knew I was different. Completely aware I was rare. Everyone has always made jokes about it here and there due to the silliness of it all. But it wasn’t until recently that it was discovered that I am one in 5,000-8,000 people rare. More rare than just a few extra parts. More rare than a strange combination of chronic illnesses.

This journey officially began this past fall with a bleeding flare. I was bleeding easily while on my normal steroid dose. It was irritating me enough to mention it to my doctor. After extensive research and dissing it all we agreed that EDS was a possibility. I was advised to see a geneticist. A three-month wait and a two-hour appointment appeared to be yet another dead end. The doctor was not educated enough in each type of EDS to accurately diagnose EDS. While I knew an EDS diagnose would not change my treatment plan I was extremely frustrated. I was left with no answers to my bleeding which was progressing and a bunch of symptoms that did not fit into a symptom list of any of my current illnesses.

While I knew an EDS diagnose would not change my treatment plan I was extremely frustrated. I was left with no answers to my bleeding which was progressing and a bunch of symptoms that did not fit into a symptom list of any of my current illnesses. (*Note there is still question if EDS is present).

I moved on as we all do when no answers are clear. I had a voicemail when I returned home one afternoon. Neither my mom nor I recognized the doctor’s name left for me, so I concluded they had the wrong person. I returned the phone call innocently without much thought. Little did I know it would change my life.

I was told I have HHT. This is the reason my POTS is out of control. Due to my migraines, I would need a brain MRI because they highly suspect that there is something linked to this illness present. Additionally, I would need testing on my heart. Just like that, she wished me a good day and the phone call was over.

I had three initials because the person I spoke with did not know how to pronounce the name. Hereditary Hemorrhagic Telangiectasia. Locating a description was a challenge. Gaining an understanding of the big picture of how this illness had been affecting my body for twenty-three years felt impossible.

“HHT is a hereditary disorder that is characterized by abnormal blood vessels. A person with HHT has a tendency to form blood vessels that lack normal capillaries between an artery and vein. This means that arterial blood under high pressure flows directly into a vein without first having to squeeze through very small capillaries. This place where an artery is connected directly to a vein tends to be a fragile site that can rupture and bleed.

An abnormality that involves a larger blood vessel is called an arteriovenous malformation (AVM). Some people with HHT will also have AVMs in one or more organs. AVMs occurring in the lungs and brain and can lead to serious complications. Everyone with HHT should undergo screening for lung and brain AVMs because if these are detected, they can be treated. The HHT Foundation recommends that all patients and families with HHT be assessed at an HHT Treatment Center for proper screening and treatment.”

From my reading, I learned that at least three genes are mutated in this disorder. There are far more questions than answers as there are with most rare diseases.One article reported less than a dozen doctors who specialize in this disease in America.

Plenty of testing needs to be conducted to give them a full picture of how this is affecting my body. So far a special hearing test/ doctor appointment is set up.  We are waiting to see what heart tests should be run and how often. Lastly, a brain MRI will need to be approved by the insurance. This is half of my medical mess at the moment.

Coping With a Rare Disease:

I have coped with chronic illness by learning as much as possible, then educating others. However, it is impossible for me to gather the amount of information I desire because it simply does not exist. Therefore, my coping methods need to be adjusted. I am confident that connecting with the rare disease community will provide comfort for me. Furthermore, I am asking as many questions as I can come up with for my medical team and setting realistic expectations because they are learning with me.

Each illness comes with a set of emotional struggles. It is tempting to go numb but feeling the emotions is an important step in grieving. Each illness seems to shape our character. I am taking HHT along with all my illnesses one hour at a time with a smile and plenty of uncertain tears.

June is HHT Awareness month. “Light your candle with us on June 23rd – Global HHT Awareness Day – to honor those with HHT who bring light to the world.”

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.