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.”

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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This Is Chronic Illness

How the melody began of the symphony “the Spoonie Life” is unique to each of us. However, like a ton of bricks, the news crushed us emotionally, which no preparation could brace us for the sudden shift in song. Lumped into a group of over 125 million American’s who are in daily combat with their bodies due to chronic illness. After all, these are Invisible Illnesses.

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Adjusting to the new role. A list of things we can no longer do. Harsh comments as well as the stairs, seem to greet us everywhere. Friendships fade away. Symptoms and pain consume each day. Functioning seems nearly impossible. Daily medications. Frequent breaks. This is chronic illness.

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Well-meaning doctors increase anxiety levels. Medical testing is never ending.  No one seems to know what to do. At times our health is out of control and all we can do is ride the roller coaster and pray. Help seems just out of reach. This is chronic illness.

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Yet we cling to hope because our lives depend on it. Dreaming. We find that reason to keep fighting. This is chronic illness.

This week is Invisible Illness Awareness Week. A week to honor you and to give you a voice. To equip you to fight your battle a little better. Making the invisible visible. Making those around us more aware. Hopefully, others will understand the reality of chronic illness.

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My friend with an invisible illness, you are brave, diligent, and compassionate. You overcome  negativity.  You have battled your invisible illness gracefully. You are an inspiration. Don’t give up! You are beautiful. You have an amazing purpose and you are making a difference.

Pictures of The Past

A picture is worth a thousand words along with a few dozen memories and emotions. Capturing the past the heartache of what once was bubbles over.  Sometimes, I avoid looking at my photos, but other days the temptation of a walk down memory lane wins. The days when laughter was plentiful and sleep was not vital.  Staying up half the night with friends was normal. And of course, anything seemed possible. Not knowing that all too soon minor aches would explode into full blown take over your entire life chronic illness.

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I look at the girl in those pictures overflowing with laughter and pure joy. The insecurities going through my mind as a teen now seem silly. Things weren’t perfect, but they appear that way. The past usually seems easier as we look back.  There are still days I miss the people who left me. The friends who said they would be there, but left.

 

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It’s true, you adjust to the chronic illness life, but little things happen that make you grieve your past. I try to not get carried away in the what if I wasn’t sick game or the things I miss. Everyone asks what you miss most, in reality, I doubt any of us can narrow it down to one thing. I miss how active I once was the energy. Being out in the sun or at the ocean. I miss dancing, hiking, and doing mission work. I miss my hair. Not needing to worry about passing out or running to the bathroom. I miss my old bad days.

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All in all most days I do well with being chronically ill emotionally. I have adjusted and know in my heart that God will use all the pain, symptoms, and every other little chronic illness thing for His glory. He has allowed Lupus and these illnesses to be a part of my life, therefore, I am okay with where I am. Yet, I am still human. I become anxious, overwhelmed, grieve, and ride the roller coaster of emotions. After last April, my emotions went on vacation, but they are back and we are learning how to live together once again.

To be honest, most days are hard in some capacity. Currently, this includes minor meltdowns, severe chest pain, dizzy spells, joint pain, and bladder pain. I have another halter monitor (I will do a review- if I don’t throw it in a lake first). A bladder infection with a side of kidney stones. To top it all off my summer class final is coming up. My liver is holding up though I am cautious due to the fact I need to taper off steroids.

This post is a bit long, but I will be doing a Bible Study update post to let you know more about online Bible studies, which I am excited about!

Can you relate to anything in this post? If so, let me know in the comments! You are the reason I share about my life as a spoonie.

The Problem of the Semester

Introducing the problem of the semester. Each semester I seem to run into at least one big obstacle with my health. Lupus doesn’t think college is eventful enough.

After coming home from the hospital, I collapsed, at least, four times from POTS landing on my right hip. Needless to say, I was experiencing hip pain. It was determined that I didn’t break anything. Even so, the pain was getting worse. I knew there was something wrong.The concern became that it was possible my body wasn’t providing enough blood to the bones in my hip. That could cause a bone or tissue to die. My doctor sent me for an MRI which revealed a growth along with some torn cartilage. Now I am waiting to see a specialist to see what the next step will be. Waiting is one of the most challenging things. Not being able to do much for the pain and not knowing what they will suggest to do for the issue at hand.

With Lupus, there is hardly ever a dull moment. I think about my friends with Lupus and everything they go through because of this illness. It can feel like you are just overcoming one obstacle and boom there is another. At times, it is difficult to process everything that is happening. We get use to dealing with certain things like blood work, but additional obstacles don’t become easy to deal with.It threatens our Lupus normal and can cause stress. This is one reason it is vital to have a support system not just of encouraging people but also of others who are dealing with chronic illness. Those  of us with chronic illness have a different perspective and provide a different element of support to one another.

At times, people tell us how we should react to an obstacle or tell us the ‘magic’ cure. If you are also facing a health obstacle it’s okay to feel emotional or to feel fine. Your emotions are not wrong. You have enough strength for whatever you are going through. Wishing you all a wonderful afternoon. 🙂

 

Saying No

They tell you that you have rights as a patient. That you and your doctor are on the same level. That is not always reality. If you disagree many times a doctor will get upset. As paticents we are expected to do what we are told. Most times our options are not taken into consideration. Many doctors assume that we do not understand what is going on at all and that we are uneducated. If we know something, they are shocked questioning why we know it and how we got the information. No offense but in this day and age acquiring knowledge is simple- it’s called the internet.

I have gone through countless medical testing all with an optimistic attitude. I smile though all the pain and attempt to make jokes (of course most people don’t find me funny). I understand that people are doing their job and I am doing mine to the best of my ability. Of course I vent in the car or at home. I have always been submissive and respectful. Taking everything the doctor says into consideration, even if I disagree.

At times I have been a gunie pig. I have went through testing that could have been avoided. I understand that many times testing is needed but it is draining, costly, and time consuming. A face biopsy is where I draw the line. I had my first biopsy last fall. I still have not healed completely from it. It might sound vein but I do not want a dark ugly scar on the middle of my face. My body has endured many procedures. It has never truly had a break. From age fourteen to twenty one every few months, it has been something. I know it is important to take care of myself. I feel apart of that is allowing my body to have a break from any invasive test. A time for it to rest, recover, and heal from the combat.

It is not easy telling your doctor that you disagree with them. They hold the power to diagnose you and they dictate your treatment plan thus they have a lot of power over your life. With a proper diagnosis and treatment plan you can function and have a life, with out it…. It is a miserable road of endless resting and searching for answers.

POTS

I am an expert at passing out, it’s a skill that not many people have. Then again most people do not need this skill. I can recall the seconds leading up to each time I passed out vividly. I have passed out well over a dozen times.  I know when it is going to happen. The warning sings are always the same first I feel dizzy, then my hearing fades, weakness increases steadily, then the vision leaves, and boom I pass out. Once the passing out shuffle begins I spring into action. Either telling whoever is around or by getting to the floor as quickly as possible. Usually someone says my name a few times and I’m back. No biggie. Extremely tiring but not tragic.

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October is Dysautonomia Awareness Month.  Postural Orthostatic Tachycardia Syndrome is a form of Dysautonomia. What in the world is it? “Dysautonomia is an umbrella term used to describe several different medical conditions that cause a malfunction of the Autonomic Nervous System. The Autonomic Nervous System controls the “automatic” functions of the body that we do not consciously think about, such as heart rate, blood pressure, digestion, dilation and constriction of the pupils of the eye, kidney function, and temperature control. People living with various forms of dysautonomia have trouble regulating these systems, which can result in lightheadedness, fainting, unstable blood pressure, abnormal heart rates, malnutrition, and in severe cases, death.” Dysautonomia is not rare, at all, it is just rarely diagnosed. Many people live undiagnosed or misdiagnosed.

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The tilt table test is used to diagnosis POTS. Web MD gives this explination of the test: “The test involves lying quietly on a bed and being tilted at different angles (30 to 60 degrees) for a period of time while various machines monitor your blood pressure, electrical impulses in your heart, and your oxygen level.

The head-up tilt table test usually takes one to two hours to complete. However, that may vary depending on the changes observed in your blood pressure and heart rate and the symptoms you experience during the test. Before the test begins, a nurse will help you get ready. The nurse will start an IV (intravenous) line. This is so the doctors and nurses may give you medications and fluids during the procedure if necessary.You will be awake during the test. You will be asked to lie quietly and keep your legs still.”

From my experience the tilt table test made me sick but did not increase my pain. Overall I found the test extremely boring. I was only up a few minutes before I began passing out. They laid me down and pumped me up with saline with extra sodium. The tilt table test does need to be done in the morning.

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The most common types of Dysautonomia are: Postural Orthostatic Tachycardia Syndrome, Neurally Mediated Syncope, and Multiple System Atrophy.  POTS can develop in the adolescent years and some out grow it. In other cases it is a secondary illness and is a chronic condition. Some POTS patients are misdiagnosed with an anxiety disorder. POTS is not an anxiety disorder nor is it cause by one. The role anxiety plays is a symptom. I received my POTS diagnosis almost a year ago. The possibility of me having POTS was mentioned during my Reclast hospital vacation. I had heard of the syndrome, however my knowledge was extremely limited. Of course I researched POTS before my diagnosis was set in stone. Once I learned more about POTS I knew I had it. It was something I lived with, I just had to get the doctors as usual to see what I already knew. My doctor ran the tilt table test. My POTS presents many obstacles daily. It is an incontinence illness.

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Though I like the doctor who is in charge of managing my POTS, most times he is unsure how to help. POTS can be challenging to treat. There is nothing my doctor can currently do other then prescribe a beta blocker for high heart rate. Of course, he advises the normal things such as eat sodium, wear compression stockings, pace yourself, ect…

It has almost been a year sense my official diagnosis. My POTS has improved greatly. This is mostly because of Prednisone. One of the biggest challenges I live with currently due to POTS is various organs not getting enough blood. Again, no one really knows how to help this issue in my body. My balance is off still. Right now it’s great I only fall into walls instead of completely collapsing. Collapsing out of no where is inconvenient and unsafe.

Normal activities are challenging for people with POTS. Being up right, being on their feet for a few minutes, and showering are difficult and sometimes dangerous things.

I watched something on POTS where a doctor recommended anyone with  POTS to wear a helmet in the shower. Comical. And impractical. How would you propose washing your hair with a helmet. Yes, falling in the shower is unsafe but a helmet is not the best solution.

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A lot more research needs to be done in order for patients to receive better treatments. That is one reason raising awareness for POTS and other chronic illnesses is essential. Thank you for reading about my POTS journey. I hope it can help someone or that someone can learn something from this post.

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