“小时候，我总是因极大的灵活性而受到赞誉。我从来没有理解这一点，因为我一直认为其他人都像我一样灵活，因为这是我的正常情况。我要花25年的时间才能发现我与众不同，而且长期病了。您知道，我有一种罕见的遗传疾病，称为Ehlers-Danlos综合征。这种疾病会在细胞水平上影响身体。我的胶原蛋白是从普通人突变的，这会导致整个身体问题。胶原蛋白是体内所有软组织的主要构件之一，因此具有缺陷可能是灾难性的。
Ehlers-Danlos综合征，，，，or EDS for short, causes me to dislocate almost every single joint in my body during mundane tasks, like bathing, sleeping, and even sitting still. Each day is a rollercoaster because I never know if I am going to be able to walk and act like the typical 25-year-old, or if I’m going to need to wear my many braces while utilizing my manual wheelchair because my body can’t support me that day. It’s like playing Russian Roulette every time I move. Life wasn’t always like this. Growing up, I was extremely active and loved playing outside with my family. Yes, I would often get hurt, but by the time I saw a doctor, I was okay. I remember one day when I was practicing an ollie on my skateboard, I fell, and I could have sworn I severely injured my elbow. My father took me to the ER because I was crying hysterically due to the amount of pain I was experiencing.
船尾er X-rays, the ER doctor came in and asked me how many broken bones I thought I had. He had me guessing until I got to three broken bones, then he laughed and said I was completely fine. This was the beginning of me doubting my own body while thinking my pain was all in my head. Fast forward a few years. I was a senior in high school. I had been a pole vaulter in track and field for some time. We headed outside for our first outdoor practice of the season. As the team was working on a gliding drill, my pole slipped out from underneath me which caused me to fall six feet to the ground. In this motion, my left leg flew to the side. I was fine at first, but a few minutes later I couldn’t stand without being in agonizing pain. This would be the end of my track and field career.
经过几个月的痛苦并难以操纵我的大学校园新生，我被转介给了一位骨科专家，他最终于2014年12月1日在我的臀部诊断和外科手术修复了唇骨。手术前的疼痛量相同，因此在接下来的18个月中，我每周开始多次参加严格的物理疗法，直到我被转交给一位具有更多经验的骨科专家。这位新外科医生看了一眼我的X射线，向我展示了我的股骨头是一个立方体，而不是一个球，这引起了唇部的撕裂。因此，这导致了我2016年7月的第二次左髋部手术。
I was doing well after this surgery, but the pain was still there. This didn’t make any sense to me or my surgeon, so I had to keep participating in physical therapy with the hope more time and strength gained would lessen the pain. We were sorely wrong. In December of 2017, just a couple of weeks after marrying the most incredible man, I had my first appointment at Mayo Clinic in Rochester, Minnesota. I had a CT scan that showed my left leg was 35 degrees retroverted (not in alignment with my hip socket), which needed surgery to correct it. On February 5, 2018, I had an anteverting femoral neck osteotomy, which basically cut my femur in half and rotated it to be in better alignment with the hip socket.
这次复苏是残酷的,但它是值得的。船尾er 6 weeks of non-weight bearing, I was learning how to walk again with my new anatomy. I was feeling confident and released to work again, so I started back in the mental health field, for which I was in the process of obtaining my master’s degree. I was even able to get hired for my dream job. Sadly, my dream was cut short. On June 7, 2018, I was attacked by a patient which caused me to rupture my hip capsule. For the next 9 months, my left hip was almost always partially dislocated. By the time I was finally approved by work comp to have surgery to repair my hip capsule, the damage was done. On March 28, 2019, I had a hip capsule reconstruction that put me in a hip-to-ankle brace and non-weight bearing for the next 6 weeks. Those 6 weeks in the brace were the worst 6 weeks of my life.
Because my femoral head had a crater-like divot in it from my hip being partially dislocated for so long, the capsule reconstruction didn’t make a difference. On August 28, 2019, I had my first total left hip replacement at only 24 years old. At the time, we thought the replacement would solve all my problems. Soon enough, I started to partially dislocate my left hip multiple times a day. My other joints started to become more painful, which didn’t make sense because I was otherwise healthy. I felt hopeless and believed I was always going to live in pain because ‘nothing else could be done.’ This is where life gets interesting. In January of 2020, I started to vomit literally anytime I tried to eat solid food. For three months, I survived off Ensure for nutrition because I couldn’t keep anything else down.
我体重超过50磅，因为我本质上是挨饿。我被转介给专家，他无法成为为什么发生这种情况的问题或尾巴，直到我终于看到一个功能性的GI专家，他诊断出我患有快速的胃排空障碍。这意味着我的胃不断受到限制，并且没有像正常的胃那样移动食物。经过一些反复试验，我们发现了一些药物可以帮助我吃更多的食物。然后，我能够说服我的臀部外科医生，我的替代者仍然不太正确。2020年6月11日，我进行了左髋关节修订更换。我记得外科医生告诉我的丈夫，他有多惊讶，我从未完全脱离左臀部，因为他能够用简单的手指弹出它。新的替代品是专门为我提供的，使我更贴合插座。我的左臀部现在是我最稳定的关节。
由于pandemic但是要求住在附近的酒店，以防万一我有任何并发症。修订后不到12个小时，我在酒店房间里走来走去，没有拐杖，没有疼痛。我对这对我有多大的态度很大。我终于感到希望我能过上半正常的生活。在所有这些过程中，我一直与一位改变生活的物理治疗师一起工作。第一次更换后，她提到我的灵活性以及如何过度伸展膝盖。她建议我在这方面看到我的主要原因，因为她认为我可能患有过度运动障碍。我的主要人数同意，并将我转交给了一个遗传学家，他希望我弄清楚我的问题。如果不是这个物理治疗师，我可以说我不认为我现在还活着。我所有的神秘疾病和受伤都没有原因使我在精神上处于黑暗的地方。
如果我对自己的健康没有任何解释，我真的相信我会一直旋转，直到我再也无法接受它。感谢Kinesis物理疗法对我的生活产生积极影响。我的PT暗示我被看到后不久，遗传学家终于能够在2020年7月23日看到我。他正式诊断出我Ehlers-Danlos综合征，超运动类型（HEDS）。他告诉我，因为由于我反复的髋关节手术，我久坐不动，我失去了肌肉张力，这是唯一将我的身体扎在一起的东西，所以为什么我在过去一年中开始遇到更多问题是很有意义的。他解释说，我的韧带就像是硬皮的老橡皮筋，所以我的肌肉正在做我的韧带不再能够做的工作。他告诉我，Heds是进步的，无法治愈的，只能通过首先防止受伤来管理。一旦某些东西脱臼，除非我24/7全天候住在牙套上，否则它将不断脱位。
约会仅几天后，我第一次晕倒了。在温水淋浴或站起来太快后，我一直在头晕，但这是我的正常情况，所以我认为这很简单 - 正常。由于昏昏欲睡，我被转介给心脏病专家，然后将我转介给了我诊断出我患有血管腔晕厥的电生理学家。在我反复发作的情节中，我开始越来越多地将关节脱位，而这种情况确实不应该导致关节脱位。我曾多次将右膝盖脱臼，甚至在车上刹车时肩膀受伤，以免发生碰撞。我的膝盖继续引起问题，直到2020年12月22日，我将韧带固定在韧带上。从该手术中恢复过来，我撕裂了右臀部的唇唇，同时容纳了固定的膝盖括号。当我能够再次开始减肥时，我站在它们上折断了两个脚踝。
The talus in each ankle fractured and developed avascular necrosis. I am currently waiting on a core decompression for my right ankle scheduled for July 15, 2021, which I can only move forward with if I am able to raise $2895 for a portable electric wheelchair my insurance company deemed ‘convenient’ even though I am unable to be non-weight bearing without it due to my shoulder instability and hand weakness. 3 to 6 months after, at only 26 years old, I will have my right talus replaced. We are expecting my left ankle to undergo the same surgeries at some point but are hoping we can push it off until my right ankle is stabilized. My right talus avascular necrosis progressed extremely quickly, so we really don’t know how much time I have before my left ankle fails me. Earlier this year, I had the opportunity to meet with an EDS specialist who answered all the questions I had about this disorder, explained many of the symptoms I had, and diagnosed me with many of the common comorbid disorders that go along with EDS.
She was able to connect me with other medical professionals who know how to work with patients who have Ehlers-Danlos. As of right now, my diagnosis list is vast. It includes Ehlers-Danlos Syndrome, Mast Cell Activation Syndrome (I can have an allergic reaction to literally anything at any time for no reason), dysautonomia (this explains feeling woozy after showering and my body turning into a limp noodle by standing), bilateral talar avascular necrosis, severe asthma, degenerative disc disease in every vertebra of my cervical spine, spondylolisthesis, temperature intolerance, stress fractures in my lumbar spine, arthritis in almost every joint in my body, ankle instability, dermatographia, TMJ disorder, ulcers, rapid gastric emptying disorder, functional dyspepsia, myoclonic seizures, high blood pressure, vasovagal syncope, heart palpitations, migraines,PTSD，，，，anxiety, and major depressive disorder. I’m sure I forgot a few, but as you can see, this list is vast and includes my whole body.
I often get asked how I can have such a positive outlook and still smile with all the pain and hardship I endure. Don’t get me wrong, some days are absolute hell and I do nothing but feel pity for myself, but I try to make those days far and few because those emotions take more of a physical toll on my body. I am surrounded by the best support group I could ever hope for who make those bad days a little bit better.
我花了一段时间才能到达我的位置，但是我真的很感激我的ehlers-danlos所造成的旅程，因为它已经教会了我更多关于我的身份，并向我介绍了许多我会拥有的人如果我没有生病，就永远不会见面。这次旅程向我展示了我从未知道的力量。它帮助我学会了当下生活，并感谢小事。我选择拥抱银衬里而不是在雨中溺水。”
This story was submitted to beplay网络一直不畅 by Erin Diffley Kjer of St. Cloud, Minnesota. You can follow her journey onInstagramandFacebook并捐给她的Gofundmehere. Submit your own story here，，，，and be sure to subscribeto our free email newsletter for our best stories, and YouTubefor our best videos.
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