The story of Ashley
Never knowing from one minute to the next what your body will do or react to. Waking up each day feeling like you have the worst hangover, but have only had water. This is only a glimpse of what it’s like to live with a multi-system illness. Although each persons story is unique, we all share similar struggles.
My story is quite a lengthy one that spans from childhood to the present (almost 36 yrs) and this is the short version….
I don’t think i ever remember feeling well, or healthy. Since the age of 7 i had debilitating migraines, constant stomach problems and joint pains that would keep me home from school 1-2 days a week. Although i didn’t feel right most of the time i led a pretty normal life, did normal things any child/teenager would do. At age 25/26 i started to have an overflow of symptoms, which i thought were due to large amounts of stress i was having at the time. I was working as a hairstylist fulltime and assumed that everyone else was in excrutiating pain from standing/moving all day. I would have to crawl up the stairs after work, and on some days my dad would have to carry me to the bathroom because the pain in my joints was unbearable. When i started having more symptoms like feeling i was going to pass out suddenly at work my doctor ran a few tests and it did show i had what they thought was a mixed autoimmune condition. I was sent to many specialists in other cities trying to pin point exactly what it was. At the time i had swollen joints, striking rashes and many common symptoms of lupus, so was put on many different drugs but with no improvement. As i progressively got worse i was forced to quit my job. The medications were causing me constant infections, more side effects and no benefit. Still searching for answers my doctor sent me to a podiatrist because of the joint pain. They discovered my joints were ALL very hypermobile meaning i was very flexible and everything was moving out of place. This was occuring in every joint from my toes, knees, hips all the way to my jaw. That same night and since i had constant insomnia since childhood(i would be awake days at a time) i was watching the show mystery diagnoses. They had a person with Ehlers-danlos syndrome on the show and hypermobile joints was one of the main symptoms. It also explained other things i did not know was abnormal like having large spontaneous bruising allover, feeling dizzy and faint all the time. I immediately knew this is what i had! In 2009/2010 there was barely any info about EDS online, maybe 1 or 2 articles i could find. I told my doctors and rheumatologist about it, and although they determined that yes i was very bendy my hopes were shattered when they said it was impossible and to rare of a disorder. My family and i decided our last hope was to go to the US and seek answers. We set up appointments and sent off all my tests, bloodwork and photos i had taken. I saw a wonderful internist who immediately recognized how unstable my joints were and was alarmed by the multitude of symptoms i had. As she started the physical exam she said “Ashley your skin is soo thin and so stretchy(she could pull it a few inches on my stomach) i can feel all your organs. I was also covered in bruises and a rash called livedo reticularis. She said i believe you have ehlers-danlos syndrome. I was then put through many many tests over the course of a week, saw additional specialists in the US and finally a geneticist who would change my life. They thoroughly checked everything, even measured the width of my eyes. I was finally given a diagnoses of ehlers danlos hypermobile with classic features. We headed back to Canada with a huge relief, i found support groups online to get all the info i could and was fortunate to be set up in Toronto with an EDS knowledgable geneticist. Biopsies were done to look for rarer types of the disorder, i had gene sequencing, and a host of other tests that determined i also had POTS. Postural orthostatic tachycardia and autonomic dysfunction which explained my fainting/high heart rate/dizziness. During this time my mom was also diagnosed with a mild form of hypermobile eds, so we knew it was passed down. There was no cure and treatments at the time were next to nothing. So i learned to adjust to my new normal. I had to move to a bigger city as travelling every two weeks for appointments and tests was making me worse. I ran a small at home bakery so that i could work on my own time when i felt well enough. After a few years i was progressing, getting sicker and losing large amounts of weight. I was now also diagnosed with gastroparesis(stomach paralesis) and barely able to eat. My muscles were so weak i could barely stand up, walk or brush my hair. My heart rate and blood pressure were so unstable i could hardly sit up and ended up in the er numerous times. I had to close my small bakery as i was unsure what was going to happen to me. As summer months started i noticed i was getting extreme rashes in the heat/sun and my heart rate/blood pressure would spike so high the er doctor thought i may have had a heart attack. My days seemed to be filled with cycles of sickness/doctors/tests/appointments with no end in sight. The stress around planning a wedding and other events seemed to have put my disease into overdrive. I was now in a constant state of illness, waking up sick stomach everyday, unable to stand more than 10 minutes and additionally started having allergic reactions to medications and other things. In 2019 i was sent for another genetic test after trips to the allergist revealed my tryptase levels came back elevated. Tryptase is an enzyme that gets released along with histamine when your having an allergic reaction. Only mine was being constantly released even when i was not having an allergic reaction. Days before the covid pandemic in March 2020 my genetic tests came back positive. I was diagnosed with Hereditary alpha tryptasemia which means i had an extra copy of the alpha tryptase gene or TPSAB1 gene. This causes elevated levels of a protein called trypase in the blood.
HaTs can cause a number of conditions including ALL of the ones i was previously diagnosed with including Ehlers-danlos syndrome, POTS, gastroparesis and many of the other symptoms i was living with.
As for now i am lucky to have a great group of doctors who are trying to manage my symptoms. I continue to struggle everyday, and ever minute is still unknown. I now have a food/recipe blog on instagram to keep me busy and am getting my muscle strength back through physio and excercise.
I found answers from seeing someone else tell there story, so my hope is that someone out there will read mine and also find an answer.