Willfully Determined

Yesterday I pushed myself to do more and to do different. I decided to be a 22 year old for a few hours, I just ignored the fatigue, took the pain meds, and went to back to back movies (7-11:30pm) with my sister, who didn’t think I could stay out late anymore. It was a gift to both of us to be able to spend that time together, just enjoying doing something that was so out of the norm.

Usually I sleep through 60-80% of movies anywhere we watch them, our basement, my room, the movie theater, other peoples houses… But last night I worked hard to stay awake, and I did a stellar job. My POTS/dysautonomia leaves my body unable to pump blood to my brain when I sit down for too long, so I fall asleep or pass out even if I’m loving a movie or having a great conversation with someone; but usually, if I move around or take a walk I start to feel much more human again and stay awake for at least 10-20 minutes 😉

My family asked me if I really had energy for this, and here is what I told them,

“No, I don’t have the energy, but this isn’t about energy.  This is about desire and determination.”

Sometimes I have to accept my symptoms, accept my situation, and make a choice to push past all of the exhaustion, pain, nausea, and sensitivities so that I can remind myself and those around me that I’m still me, and that there are still things out there, outside of my “safe zone” (aka my house and my room). Watching the world go on without you can be a very strange feeling, it’s like watching from an outside view, looking down on the life I thought would be mine and watching others continue on without me. The world doesn’t wait for anyone.

Recently I’ve been hearing a lot of “nothings” from doctors; some literally don’t have anything to say, don’t answer emails or calls or anything, others telling me they can’t take on my case or I’ve exhausted the options they can offer. It’s a lot of “keep you comfortable” and “manage symptoms.”

After so much of the same, I’m so tired of doctors and meds and tests or treatments that no one actually thinks will work. I want to live. I want to experience my youth, I want to really feel alive and I want to cross items off of my bucket list.

I want to travel and see incredible sites and take countless photos. I hope to visit all of the girls who I’ve met online, the ones who have helped me through these years of illness, and I want to meet new people, and fall in love. I want to get rid of these tubes so I can swim with dolphins and scuba dive, get as close to my mermaid dream as possible.

I have a lot of goals, and I may never accomplish all of them, but they make for some happy thinking & I never pass that up. 🙂

 

Ehlers Danlos Syndrome: When Things Went From “Promising” to “Progressive”

I was diagnosed with my first “real” chronic illness at age 16. In reality, I had been having symptoms for a long time, but they had always been passed off as hormonal symptoms, asthma, growing pains, etc. At the start of my junior year of high school I was diagnosed with Dysautonomia/POTS along with three other types of tachycardia and Occipital Neuralgia. I was experiencing severe, daily headaches, chronic fatigue, hypotension, tachycardia, pain, and a myriad of other symptoms. Although the doctors I was seeing did tell me that these illnesses were chronic, they also told me that because of my age and how the illnesses presented there was a high likelihood that I would grow out of them by the time I was in my early 20s. Although I was struggling at the time and had to change many aspects of my lifestyle to cope with these new symptoms, my parents and I had hope that this was only temporary and we would see improvement.

About a year later when I had just started my senior year of high school I was just getting over pneumonia when I started seeing an increase in my fainting and then began having gastrointestinal symptoms. Within a few weeks I went from vomiting once or twice a day to not being able to keep down any of my meals. By November I was taken out of school and placed on homebound due to my inability to attend classes regularly; my state of health was in rapid decline. In December I was admitted to UVA hospital where they were finally able to put a name to what was going on… gastroparesis. My stomach was essentially paralyzed and had stopped being able to process or move food through. At the time they told me it was a chronic condition but that in young people with no other pre-existing conditions it is often post viral and will go into remission or can even go away completely within 9-18 months. They fully expected me to fall into this category and told me that adjusting my diet and taking nausea medication should get me through until this time passed.

Although I did see temporary improvement with my gastroparesis, it obviously did not pass. About a year after my diagnosis I had my second “flare up” and ended up re-hospitalized at UVA and eventually ended up with both a central line and a feeding tube. After seeing multiple specialists including cardiologists, electrophysiologists, motility specialists, neurologists, GI doctors, a psychiatrist, rheumatologists, dysautonomia specialists, and I’m sure I’m missing something, I ended up finding out that my POTS and my GI dysmotility/gastroparesis is likely all caused by a genetic condition called Ehlers Danlos Syndrome (EDS). This diagnosis is what changed the dialogue surrounding my health.

EDS is a group of connective tissue disorders that are passed down genetically and cause a defect in the collagen in our bodies. I have hEDS (previously EDS type 3), which is also known as hypermobile EDS because one of the most distinctive factors is having hypermobile joints (having hypermobile or double jointed joints does not mean you have this condition, so don’t worry!). Because of my collagen defect, my joints are loose and my connective tissue is “stretchy,” leaving me with joints that sublux or pop out of place frequently and are prone to dislocation, skin that is stretchy and bruises and scars easily, and a body that bends and folds in funky ways. EDS also causes me extreme pain almost 24/7, it has caused osteoporosis to develop at age 20, led to chronic nerve pain, and it affects every part of my body down to my eyesight, my hair and nails, and my organs.

For me, EDS is the most likely cause of the autonomic failure that has caused my Dysautonomia as well as the cause of the failure of my GI tract. The tests I had done last fall showed that my entire GI tract is now affected, meaning the paralysis and dysmotility has moved beyond my stomach and into my intestines and my colon. Sadly, EDS is a lifelong condition that has no cure and very few treatments. When I got diagnosed with EDS, doctors stopped talking about growing out of it and starting talking about “comfort” and “symptom management.” The dialogue changed and things got a lot more serious. We have a lot of hope for improvement in my symptoms and my quality of life and we hope every day that someone will discover more answers for me and everyone else who is living with these illnesses, but EDS changed the game for me.

I don’t write this to scare you or ask for pity, I write it because it’s awareness month and I think it’s important to understand that there are illnesses out there that go unnoticed and unfunded and you only hear about it when it hits someone close to you. Heck, I had no idea what gastroparesis, POTS, or EDS was until I got diagnosed, but now my life is literally forever changed by them and even I don’t have answers. Doctors don’t have answers. So I write, I share what I do know, and I hope that maybe the next girl will find out a little sooner or find the right doctors a little faster. Awareness is important, so thank you for reading and thank you for sharing!

Adventures of a Tubie

Have you ever had to make a decision between what may be smart or practical vs. what would make you happy or what would be fun? People often make these choices in small ways every day when it comes to choices about what’s for dinner, whether to study or go out with friends, what to wear, etc. One of the biggest lessons I have learned in my journey with chronic illnesses is that life is short and sometimes it’s worth a little bit of impracticality if you’re just in need of some fun.

I spend a lot of time taking care of myself and majority of the time my health comes first. I have a lot of doctors appointments and I spend anywhere from 16-20 hours a day hooked up to my IV pole on various tubes for infusions and feeds. I take countless daily and as needed medications and require a great deal of rest due to chronic fatigue and pain. That said, after a rough recent admission—which you can read about in a recent article here—my parents and I decided that I am in need of some fun.

I have some fabulous friends who live with similar health conditions that I do, but most of them live hours, states, and even countries away! Taylor is one of my best friends and she lives in Texas; she has two or three of the same conditions I have and has a feeding tube! Taylor came to visit me and our other friend, Macy, last summer and we had an amazing time! We have had two other trips planned but both fell through due to our health at the time.

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You’d never know each of us have tubes, central lines, and a handful of chronic illnesses! This time together was so precious.

Well, even though my health is not currently considered “good” or even stable, I’m going to go visit Taylor! I will fly to see her and spend a week with her in Texas! Considering most days I hardly leave my house right now, this is a huge undertaking for me, but it will be so good for my spirit. And although we are both in our early/mid twenties, Taylor and I are both quite sick and have similar restrictions so we will be good company for one another 🙂

I am so excited for this trip. I do have some anxiety about flying and traveling by myself and I know that I will need a long time to recover when I get home, but it is totally worth it. Although I can’t escape my body and my illnesses, I can take a small break from all of the stress that comes along with appointments, phone calls, insurance, etc. (or at least I can try!).

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Sometimes you just gotta pretend you’re a normal 21/24 year old and duck face it out 🙂

This trip does not mean I’m feeling better or I’m recovering, it just means I’m doing something that is fun and something that will make me happy. I’m taking time to be young and savor this part of my life as much as I can. We don’t have time to waste, so even if all Taylor and I do is watch movies and talk and nap, it is so worth it. Even if it takes me two months of sleeping when I get home, it is so worth it.

Don’t forget to choose the option that will make you happy sometimes, even if it may not be practical.

Thanks for reading.

xoxo

My Little Sister

The day my little sister was born, two days after my 4th birthday, was one of the most exciting days ever – okay maybe just the most exciting I’d experienced so far in those four years, but that’s still pretty exciting. 😉 I loved dolls and dress up, so getting a baby to bring home—a real, live baby — was a dream come true!

I practically lived in Laura’s crib. I loved cuddling her and helping mom get her dressed, fed, and bathed. She was super exciting, even though she pretty much just slept, cried, ate, and pooped. (Sorry, Laura 🙂 ) I did, of course, have a little jealousy since I wasn’t the baby any more and I had to share everyone’s attention, but in general I loved the new baby.

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To the point, Laura’s all grown up now and today is her 17th birthday. I can’t believe what an incredible person she has become. If you know Laura, you know she’s full of spunk and passion. One of the things I admire most about Laura is that she is totally confident in who she is. She likes to be appreciated and recognized for what she does, but she doesn’t need approval from others to feel good about who she is. I wish everyone (including myself!) was that comfortable in their own skin. She also has such an incredible view on the world and always stands up for what she knows is right. Whether it is to a friend, a stranger, a teacher, or a parent, Laura always speaks her mind and she does so with great passion and articulation. She is brilliant with words and is strong enough to speak out—something else I, as a huge introvert, greatly admire about my younger sister.

Laura is beautiful both inside and out—she takes kick ass selfies, something I’ve always envied. 🙂 She is also full of compassion and love. Laura has grown up as the younger sister of a “sick kid,” which is an extremely difficult role to play. Since Laura was in middle school, she’s had to watch me be passed from doctor to doctor and grow sicker and sicker all while she is trying to live a normal life. The stress that puts on her is huge, but she handles it with such a great attitude.

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Because of my illness, my needs are often the priority in our family. My parents have to focus a lot of time and energy on me. They spend a lot of time taking me to appointments, helping me with medications and tube feeds, and doing other things that are required because of my health. Although my parents are incredible and juggle having both of us here at home so well, it is still really difficult on Laura. However, you hardly ever hear a negative word about this situation come from her.

Laura was supposed to be the only child left in the house when I graduated from high school 3 years ago, but instead, I got extremely sick (again) half way through my first year of college and had to come home. Since then, I’ve been at home and my illnesses have gotten progressively worse. For Laura, this means she has watched my health deteriorate over the last 4 years while she is just trying to make it through the crazy high school years.

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Laura has traveled to different states with me for doctors appointments, stayed with me countless days while I’ve been inpatient in the hospital, laid with me in bed when I was in too much pain to move, and literally picked me off the floor when I’ve fainted. She also regularly brushes and braids my hair when I’m too weak or tired to do it myself, she (and her boyfriend, Sam) pick me up or drive me places when I can’t drive, she gives me piggy-back rides to help me save my “spoons” (aka energy), and she is always looking out for me and making sure I’m as comfortable and cared for as possible. Laura is one of my biggest advocates and supporters through this crazy journey. She’s always spreading awareness and reminding people of how lucky they are to be able to eat or go to school or work when some people can’t do any of that because of illness. Laura has let this situation shape her into such a wise and mature person and I’m so proud of who she is becoming.

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Being the sister of a sick kid isn’t easy, but Laura is incredible and I’m so lucky to have her. Laura is often greeted with things like, “Hey! How is your sister?” or “Is Rachel feeling any better?” Although Laura knows why people so often ask about me, she struggles during my hard times, too. Being a loved one of someone who is so sick is extremely taxing, so I encourage everyone who knows Laura or anyone else with a sick sibling or child to ask them how they are and express interest in their lives before asking about the other person. Laura has a passion for animal rescue and regularly fosters dogs, she is a great artist and writer, and she loves her criminal justice classes and is looking forward to a career in that field. Laura is so smart and has such a great perspective on things; if you get a chance to have a real conversation with her, definitely take advantage of it.

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I’m so grateful to have Laura as my sister. Although my illness causes us all great stress and worry, it has also brought us closer as a family. Laura has become one of my care takers, my biggest support, and a best friend. Happy birthday, Laura! I love you to pieces!

Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a group of genetically inherited connective tissue disorders. EDS causes a severe defect in the production of collagen, which is the part of the connective tissue is what provides strength and elasticity to major structures in your body such as your skin, joints, and blood vessels. EDS can range from being mild to being life threatening from person to person.

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EDS mama and nurse 🙂

Ehlers-Danlos Syndrome is considered a rare disease, and although I have the most common type, EDS type 3 or hypermobility type, there is still a major lack in research and funding. There are six different types of EDS, some more severe than others. There is no cure for Ehlers-Danlos Syndrome and very few treatment options.

EDS type 3 is diagnosed based on clinical evaluation and family history. Doctors look at joint hypermobility using a nine-point scale called the Beighton scale. I scored an 8/9 on my clinical evaluation, you generally need a 5 to be diagnosed, but it varies some. Other things they look for are easy bruising and scarring, stretchy and soft skin, subluxations and dislocations, joint and back pain, GI symptoms or bowel disorders, dental crowding, and postural orthostatic tachycardia. I have all of these symptoms and we found that my mom fits much of the criteria for EDS as well.

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My shoulder is in the process of sliding out of place in this photo, just because of how I was selfie-ing! Oops!

That’s a simple medical definition of EDS, but it is such a complex illness and causes daily symptoms and complications. In my case, we believe EDS is the underlying cause for many of my other conditions. It is likely that this genetic condition predisposed me to the autonomic dysfunction that led to Dysautonomia (POTS & NCS) as well as the failure of my GI tract. I have also been diagnosed with scoliosis, osteoporosis, and have suspected fibromyalgia that causes severe nerve pain throughout my body. My EDS causes severe joint pain and chronic back pain that often leaves me bed bound as well as constant subluxations and dislocations of my major joints such as my shoulders, knees, hips, thumbs, wrists, ribs, and collar bone. I rely on my feeding tube for nutrition and my port for hydration because my stomach and intestines/colon no longer function properly due to gastroparesis and generalized intestinal dysmotility.

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My feeding tube goes through my stomach and into my intestines so that I can bypass my stomach and receive nutrition.

Because I have low bone density (weak bones) and experience regular subluxations (joints popping in and out of place), I have to be extremely careful not to hurt myself. I can fracture bones much more easily than most and my skin bruises from things as simple as crossing my legs the wrong way or wearing boots for long periods of time. I used to be extremely active and adventurous and I loved to run and swim, but now I’m lucky to be able to take a short walk or do simple floor exercises a couple of days a week. My chronic fatigue syndrome leaves me in bed anywhere from 16-22 hours a day sleeping and resting and even when I’m awake I’m usually still just at home because of pain/nausea, daily migraines, and fatigue.

Ehlers-Danlos Syndrome has changed my life, just as it changes the lives of everyone else it affects. I have had to leave school and am unable to work due to high levels of daily pain, constant nausea, and extreme fatigue. One positive thing that has come from my diagnosis is the many friends I have been able to make from the online support communities that I joined once learning I had the condition. Making friends who are going through the same things that I am has been such a gift, even if most of them live in different states and even different countries.

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My first ever EDS friend! She also has gastroparesis and Dysautonomia/POTS just like me!

February 28th is rare disease day, so take time to be aware and spread awareness for rare conditions like Ehlers-Danlos Syndrome today. These conditions need more research, funding, and awareness so the millions of people living with rare conditions can move towards finding cures.