But You Are So Young…

          But you are so young… words that pierce a hole right through my sternum. Yes, I am young but unfortunately chronic illnesses don’t ask for ID. Yes, I am young but I know kids, young adults, adults, and seniors with chronic illnesses. Nobody tells a diabetic kid they can’t be sick because they’re too young! Yet we (spoonies of various illnesses) get it all the time. My passport and birth certificate concur that I am 21. I am young but anyone who has heard the snaps and cracks of putting my joints back in place before I get out of bed each morning would swear that I am 80. I am young but take more medication and supplements than my grandparents. I am young but I wake up each morning to face a monster that knows my name, my fears, and my limits. I am young but my calendar is that of a retiree: volunteering with doctors appointments and physical therapy to fill in the gaps. I am young but I have friends my age and younger fighting for their lives and few that lost their battle already. I may not look sick, or I may, but I feel sick. I feel these disease nestle into every nook and cranny of my body. I put on a smile to mask the pain and refuse to slow down for the fear that I will be eaten whole by the flames. As Plato said, “be kind, everyone you know is fighting a hard battle”. While many of these comments aren’t said with ill intent, they can be destructive to someone not quite back up on their feet. I suggest going with a complement not related to pain, illness, or weight for the general population. My heart broke the other day when a fellow friend with gastroparesis (stomach paralysis) told me (after losing a lot of weight do to sickness and malnourishment) her mom had told her she looks better “lighter” after she had just been talking to her mom about how she’s really struggling with her GP. Pro-tip: Try crawling around in our bodies in your mind. If you were in constant pain and feeling defeated, would you want someone to tell you “you don’t look sick!”? Even if with good intentions the answer would probably be no. You can always ask instead how we are doing or if we have seen any good movies recently (chances are if it is a spoonie the answer is YES…we watch a lot of Netflix… 😉 ).

Harper Lee

 

May is EDS Awareness Month

Alright, it would be silly if I didn’t post something EDS Awareness related because it is awareness month so here goes.
Here are some FAQ about Ehlers-Danlos Syndrome

    • What is Ehlers-Danlos Syndrome (EDS)?
      • EDS is a group of genetic connective tissue disorders (CTD) that affect your bodies ability to produce collagen. Collagen is a protein in connective tissues that acts as a glue for your body. People with EDS produce weak, faulty collagen which affects our joints, organs, blood vessels, ligaments, tendons, you get the jist. There are different subtypes based on which type of collagen the mutation is on. All types share joint laxity, easy bruising, and soft skin. There are currently six different types of EDS (newly revised): Classical, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia, Dermatosparaxis, and Other. It is possible to have crossover, AKA more than one type (lucky duck…).
    • How is EDS diagnosed?
    • Excellent question self, EDS is a clinical diagnosis that can be confirmed with genetic testing in all but the hypermobility type. The clinical diagnosis comes in two components: the Beighton Score (asses joint hypermobility), and the newer Brighton score. (I know, it’s stupidly similar names)
BRIGHTON CRITERIA
BEIGHTON SCORE (out of 9)
    • Is there a cure?
      • Major womp here. Not yet. But, in Baltimore they started the first EVER EDS Clinic and Research Center out of GBMC!
    • What are some conditions that are comorbid (related to and commonly occur together) with EDS ?

    • The zebra is the mascot for rare diseases based off an old medical saying from the 1940’s Dr. Theodore Woodward, “when you hear hoofbeats, think horses not zebras“. This saying is used to remind medical students that it is often not a rare diagnosis. The problem is that medical zebras do exist, and it can be hard to remember that at times. The average time from start of symptoms to correct EDS diagnosis is 8-15 years.
Some Facts About EDS!

  1. 50% of EDSers can touch their tongue to their nose!
  2. EDS is currently estimated to effect 1 in every 5000 births world wide.
  3. It is likely that most contortionist have EDS or another connective tissue disorder.
  4. Professor Rodney Grahame, a British Rheumatologist in the field, says, “no other disease in the history of modern medicine, has been neglected in such as way as Ehlers-Danlos Syndrome.
  5. Characteristics of EDS were first described in 400 BC by Hippocrates, but the syndrome was named after Edvard Ehlers of Denmark in 1901 and Henri-Alexandre Danlos of France in 1908.
  6. EDS is considered an invisible illness, even though it can have visible manifestations (extreme bruising, atrophic scarring, joint hypermobility, etc).
  7. Due to the lack of resources, research, and awareness there is no cure, few treatment options and is largely based on palliative care.
  8. Actress Cherylee Houston has Ehlers-Danlos Syndrome.
  9. Some breeds of cats, dogs, and horses can have EDS.
  10. Gary “Stretch” Turner, the man with the world’s stretchiest skin has EDS. (likely did many contortionists and circus performers)
Congrats! That’s all for today folks, feel free to comment if you have any questions, I’ll do my best to answer them!
Jkjk…I hope 🙂

 

Backstory

     Hello! My name is Julie. I am, in many ways, your typical  21 year-old college student. I am a junior at George Mason University. I love traveling, languages (learning my 8th now), movies, photography, nature, fixing things, and art. I live in the dorm on campus during the week and on the weekends I stay with my mom and work. During the school year I work part time as a support staff person for kids with special needs in camps and classes. My hope is to become an Occupational Therapist. I love it because it combines the problem solving and MacGyver-esque fixing with helping people and medicine. I also have been volunteering at a local free clinic doing medical interpretation as well as some administrative tasks for almost 8 years now.
I have an older brother who is now 23 and was my partner in crime throughout childhood. My mom and I are pretty close, we both like similar music, playing card and board games (when I let her win 😉 ), and watching movies. As kids, my parents took us on several international trips, but as we got older the traveling radius got smaller and smaller. That is until I caught the travel bug again in 2011. I convinced my mom to go back to Ghana with me. It was the first of many a life changing trips. Now we are all probably familiar with the new fad of “voluntourism”, and going to developing countries to “make a difference”. Well I was young and naïve and I thought I could change the world in the month I was there. Needless to say, I learned an incredibly important lesson about expectations and going with the flow. I think this has helped me in dealing with my illnesses. 

The next year I received a State Department Scholarship to study Arabic is Muscat, Oman for the summer. First off, I learned that having a severe food allergy to onions in a country whose cuisine is a combo of Middle Eastern and Indian is complicated. 
The first day of the program in-country I met with the Indian cook for the program, told him about all my allergies and how important it was that I don’t consume anything with ingredients I’m allergic to. The cook responds flabbergasted, “but ma’am, with no onions…no flavor”.  Needless to say having an anaphylactic reaction in the middle of the desert is nerve racking. After graduating high school in 2013, I made my way to Peru to volunteer in a clinic for one last hurrah before college. 
 
At the top of Mt. Machu Picchu
 So that’s the typical young adult part… but who wants to be typical anymore?
 
 I spent my freshman year studying Nursing at the University of Alabama Birmingham (UAB). Due to my work at the clinic and my good grades I was pre-accepted into the School of Nursing, just as my grandma had done there many years before me. I loved college, I loved my nursing classes, I loved my independence, and I loved the possibilities of what my life could be. Two weeks into school I woke up at 3:00 am in the ER. I didn’t remember getting there, what I was doing before, or going to sleep. I frantically pressed the call button until the nurse came in and explained to me that I had a seizure and have epilepsy. She paged the doctor and he came in, explained that they were going to start me on anti-seizure medication and have me follow up with a neurologist. Epilepsy. The nurse came back with my discharge papers. I laid there frozen for a few minutes till things caught up. I panicked. I remember calling my mom, my aunt, and my friends desperate for someone to pick up the phone in the middle of the night and tell me it was going to be okay. Finally, my uncle, a doctor in Oregon, picked up. He calmed me down and told me to hand the phone to my nurse or doctor. He talked with them and helped me make a plan. I had no idea that this was just the beginning. It was just like that moment in Ghana where I realized things were changing and there was only so much I could do.
            The rest of my freshman year was a battery of tests, hospitalizations, therapy sessions, and doctors visits. They ruled out epilepsy eventually with continuous EEG monitoring and passed me off to a psychiatrist who passed me back to the neurologist who eventually passed me back to the psychiatrist. You get the picture. By the end of the year I felt like I was 89 years old, not 19. After my freshman year ended I had to make one of the toughest choices of the year: drop-out of UAB, leave my friends and nursing school slot and move back to Virginia with my mom for treatment, or to continue trying to balance school (somehow managed a 4.0 my freshman year despite my health continuing to decline) and treatments with no support system within 500 miles. I chose moving back. I enrolled for online classes at my local community college and started making calls to specialists and doing my research. At that point, I was still having seizure like episodes, syncope, digestive issues, more frequent joint dislocations, severe migraines, breathing problems and severe allergies. Nobody could figure me out. 
I had one friend in the area, very little interaction with the outside world, and lots and lots of interaction with the medical world who gave me diagnoses of things like Munchausens, Conversion Disorder, “Just Anxiety”, Attention Seeking, “Abdominal Pain”, etc. I grew more and more frustrated and sick. Finally, a friend from high school mentioned Ehlers-Danlos Syndrome (EDS) and Dysautonmia/POTS (Postural Orthostatic Tachycardia Syndrome). She had been diagnosed in middle school. Having no idea what she was talking about I started googling the conditions. Things started to make sense. I was a pretty sporty kid, but spent most of the time on the bench due to injuries. A normal scrape for most people took months to heal and always scarred for me. Sitting still caused pain. Standing up made my head spin and I frequently passed out. Eating made my stomach hurt. Even after 2 years of braces and a permanent retainer on my teeth they still shifted right back to where they wanted to be. A shoulder injury in middle school put me in PT for two years with little improvement. Wait…normal people don’t have joints that pop in and out easily? I printed out the information on EDS and POTS and made an appointment with my primary care. I finally felt like I knew what was going on. I wasn’t making this up. This is real. My primary care breezed through the information sheets, looked up at me and told me, “you don’t have EDS, we would have seen it by now”. Seen it… an invisible illness… she didn’t see it. It felt like a dagger in my chest, but I didn’t give up. I made an appointment with the cardiologist my friend sees who is one of those world-renowned types who appears on talk shows and has people who traverse national boundaries to see him.  
Three months later after even more tests, he looks at me and says, “you definitely have POTS and EDS and a complicated case of it. I also think you have Mast Cell Activation Disorder and Cranio-cervical Instability (CCI). EDS and POTS have no cure but we will do our best to help you manage your symptoms.” I felt relieved and somewhat happy. Someone finally believed me. Ehlers- Danlos Syndrome is a group of connective tissue disorders in which the body produces weak and faulty collagen which is the “glue” that holds your body together. All of my joints dislocate very easily. I am extremely hypermobile. I bleed, bruise, and scar very easily. Additionally, my veins and organs are prone to rupture. I am in constant, severe pain. Since collagen is everywhere in your body, it effects so all body systems. POTS, MCAD, CCI, Gastroparesis, Arnold-Chiari Malformation, Migraines, Depression, and Anxiety (all of which I have) are just a few of common comorbid conditions that piggyback off EDS. POTS is a condition that affects my autonomic nervous system which controls heart rate and blood pressure. Normally, when a person stands, gravity pulls blood to the lower extremities. The nervous system senses this and sends a message to the blood vessels to constrict, sending more blood back to the heart and head. With POTS, this message to constrict does not get sent. Therefore, instead of the heart rate increasing by a normal 10 to 15 bpm upon standing, it can increase by more than 30 and can even double. By affecting circulation, it also affects cerebral blood flow. Symptoms include orthostatic intolerance (dizziness), chest pain, headaches, GI cramps, inability to focus and concentrate for long periods of time, inability to read due to blurred vision, difficulty with recall, extreme fatigue, nausea, gastroparesis (paralyzed stomach), tremulousness, insomnia, loss of consciousness due to loud noises/ flashing lights and much more. It can also present with seizure like episodes from extreme adrenaline rushes and hypoxia. At last, the real answer behind my non-epileptic seizures. MCAD causes hyperactive mast cells which release histamine bursts causing reactions such as hives, flushing, difficulty breathing, and anaphylaxis. I can react to just about anything (even heat and cold), and what I react to can change. I was newly diagnosed with Long QT Syndrome which can cause heart arrhythmias, syncope, and seizures. I have an implanted cardiac monitor that continuously monitors my heart for 3 years.
 
Fall of 2015, I started school at GMU and have enjoyed it. It allows me to have a part-time college experience close to home, and close to my medical team. I use a manual wheelchair with a portable power assist wheel to get around. I work 3-4 hours each weekend and in my free time I go to doctor’s appointments, color (when my fingers don’t dislocate too much), watch movies, go for rolls if the weather is nice, and hang out with my friends. On a good day, I can tackle the world. On bad days I need help with mundane tasks and can’t get out of bed. Did I mention my conditions fluctuate? Living with several rare diseases is like having Latin be your first and primary language. The language you operate in, think in, dream in. Now you know English too, but at times English seems so foreign. Naturally, those who understand you best as you would be those who also have Latin as their first language. They understand your struggles in trying to communicate your experiences to others, they understand that you’re basically operating on a dead language. If you want to talk to the pope, you’re set. Rare diseases and chronic illness can be isolating and overwhelming. They influence my life and can control it, but I refuse to let them define it. After all, I am a professional patient.