My name is Ariana and I am 22 years old. I have a very mild phenotype of LS. I was born as a big, healthy baby with no obvious abnormalities and, apart from spending a few years as a severe asthmatic and being clumsy and injury prone, I was a relatively healthy child. There was at one point a concern for my skeletal health which lead to a full body X-ray that discovered additional bones in my wrists; it was assumed that this was just because they had yet to fuse. I ice skated as a small child and was always too clumsy to be much good, but I was able to become quite competitive in 4-H horse showing which I continued doing until I aged out. I even made a little money training horses.
My LS was unrecognized until my senior year of high school when I tore both my ACL`s in the space of a couple months just going about my daily life. This would be the prelude to a handful of other ligament tears sustained in falls. This was worsened by my increased drive to be active when I went to college, I wrestled until it became obvious that I would keep sustaining injuries if I continued so I switched to powerlifting. By the time of my junior year of college it become obvious that my hips and shoulders were remarkably hypermobile. Also, ,I I started to experience random joint aches which remained even after I gave up lifting. After my rheumatology panel (for autoimmune disorders) came up negative, my primary care doctor told me to “pick a joint” so she could send me to an orthopedist. I picked my wrists, which were stiff and increasingly painful.
This was a good choice as my local orthopedists thought at first I had Keinbock`s disease ( see below) based upon my X-rays. When an MRI reveal even more additional bones the orthopedic office was even more baffled by my skeletal abnormalities. Even a group of orthopedists with a combined 40 years of experience consulted “Dr. Google.” Based on my X-rays, MRI, and overall appearance, LS was suspected. I was referred for genetic testing at the closest Mayo Clinic location, where I was tested for a battery of bone dysplasia, and- lo and behold- the specialists back home were right.
This news was incredibly troubling for my parents who both searched their family histories for anything that looked like Larsen syndrome. They eventually chose to get tested to ensure that the family had the best possible genetic information. I was sure form the start that they would both come back negative for LS and indeed they did. I`m the oldest of my three siblings. However, I`m the only member of my family that has Larsen syndrome; The mutation of the FLNB gene associated with LS only affects me.
It seems that for LS a diagnosis offers more of an explanation rather than a specific treatment plan or guide for living. That said, I`ve been more careful ( cutting out activities that could result in me getting hurt where possible, wearing braces on my knees and ankles when I do risky things, and doing a nightly physical therapy routine.) These steps have worked to reduce my pain in most places, and have prevented me from tearing more ligaments -which is much appreciated. Perhaps the ironic thing is that diagnosis has not helped figure out how to manage my wrists and hands which have been steadily worsening. They remain painful, but they have also become remarkably stiff, numb, and weak when gripping things which makes activities like standing from the ground and holding utensils difficult. I also have carpal tunnel but, in clinical tests, there seems to be more going on as I don`t get the tremors characteristic of carpal tunnel and my symptoms are not clearly specific to carpal tunnel. . The current guess is that there`s some unique interaction between my wrist bones, tendons, and nerves; this sounds quite reasonable to me, but does not provide a clear treatment path. It would be very unfortunate if this were to continue progressing as I`m not sure how I would live my life without useable hands ; they slow down my ability to work and do school work. Currently I am a student at the university of Arizona working towards a dual degree in CIvil Engineering and PPEL (philosophy, politics, economics, and law). I work at my county`s wastewater department proofing the model of our sewer. It may sound silly but, I really like my job; I honestly feel that working in sewer maintenance and infrastructure is noble work. It is the work of the civil engineer to make cities liveable. After graduation I`m, not sure if I want to work as an engineer or go to law school and work in resource or environmental law.
Other than my studies and work , I still care for and ride a horse. I have a great boyfriend and dog who accompany me on fantastic road trips. The photo below is of me on our roadtrip to the petrified forest. I have friends and family who I love and who love me.
I`m still figuring out what the future is going to look like. For me it is weird that a condition that has only recently become a problem for me causes symptoms in most people who have it as newborns. On the one hand I count myself lucky for my asymptomatic childhood, but now I`m in a situation where I need to change my expectations for my own physical abilities. I always assumed that I`d be able to go back to weight lifting after I got a handle on my health, but now this is not a reasonable goal. I feel strange having to learn to be cautious in my early 20`s. Two years ago I was going to the gym to flip tires and lift weights for hours every week day. I still sometimes have the mentality of a teenager who doesn’t believe there are things you can`t do, and I now have to balance that with the knowledge that if I`m having a bad day I could seriously hurt myself going up a flight of stairs or walking on a flat sidewalk.
Kienbock’s disease, also known as avascular necrosis of the lunate, is a condition in which the lunate bone, one of eight small bones in the wrist, loses its blood supply, leading to death of the bone. The lunate is a central bone in the wrist that is important for proper movement and support of the joint. I do not have this disorder.
