A Tennessee college student’s rare condition has left her body so weak she feels like she is ‘melting.’
Kayley, 20, was born with Loeys-Dietz syndrome (LDS), a rare genetic disorder that was only discovered by doctors two decades ago, right around the time she was born.
LDS is so rare the exact number of cases is still unclear. One review estimated there were at approximately 4,000 cases worldwide.
The condition weakens the connective tissue – ‘the glue’ of the body that supports and gives structure to bones, muscles and organs. This leads to club foot, painful joint hyperflexion, osteoarthritis, scoliosis, oral malformations and ruptures in the heart.
Kayley has already received a number of procedures to manage her condition and reverse defects, including one immediately after birth to correct the positioning of her legs.
By nine years old, she had gone into heart failure because the abnormal connective tissue surrounding her heart allowed the organ to grow too large. When this happens, the heart has to pump harder, weakening it over time and eventually leading to heart failure.
Now, her weakened blood vessels have caused six aneurysms throughout her body, which could burst at any moment.
Kayley said: ‘Basically anything on my body is impacted. I would say I have the body of like a 75 year old.’
Kayley, a 20-year-old college student in Tennessee, was born with Loeys-Dietz syndrome, which has left the connective tissues in her body ‘melting’
Despite the condition’s low life expectancy, Kayley said she is ‘in love with life’ and focused on making the most of the time she has
In an interview with Special Books by Special Kids, Kayley said: ‘I like to call it “The Melting Disorder.” Basically, my connective tissue, all of it, is super weak, and so it doesn’t really hold me up or hold my skeletal system.
‘Basically anything in my body doesn’t hold as well as it should. Connective tissue is like a glue for your body, and since mine is weaker, my body just isn’t put together very well.
LDS patients also develop distinct features like widely spaced and slanted eyes, curved fingers, swelling in the spine and translucent skin.
A genetic disorder, about one in three patients have a parent with it and a parent with the condition has about a 50 percent chance of passing the faulty gene on to their children.
Sufferers are often born with heart defects, as the condition enlarges the aorta, as well as inflammation in the gastrointestinal tract and hollow organs prone to rupturing.
Kayley also has bent fingers that reduce mobility and are severely bent in different directions. While she wanted to get them fixed, doctors believe they are past the point of correction.
Though she regularly does small exercises to increase the strength in her hands.
Kayley was born with her legs turned backward, which required immediate knee surgery
As a middle schooler, Kayley had to be fitted with a halo brace after undergoing one of 20 spinal surgeries
Kayley said: ‘I’ve had so many other health problems that I never had time to fix my hands. [Doctors] unfortunately said that because I waited so long that they can’t do anything anymore.’
She also has clubbed feet, weak blood vessels and aneurysms – the ballooning of blood vessels.
She currently has six spread throughout her body, and if they rupture, they can lead to deadly internal bleeding, which causes shock, organ failure, and death due to the massive loss of blood.
To date, she has had about 20 spinal surgeries and had seven rods placed in her back to correct her severe scoliosis.
LDS has a life expectancy of just 37 years old. The most common cause of death in these patients is an aortic dissection – a tear in the aorta – and brain hemorrhages.
However, Kayley notes that ‘life expectancy is not an accurate depiction,’ since the disorder is so new. When LDS was first discovered, the life expectancy was just 20 years.
Despite her struggles, Kayley calls herself ‘the most lucky person I know’ and ‘loves life a lot.’
But she still struggles sometimes to confront her own mortality.
Kayley’s hands are now severely bent, and doctors fear it is too late to reconstruct them
‘As I grow older I have learned to grieve because maybe not growing old is something that really sucks,’ Kayley said about learning to confront her mortality
She said in the YouTube video: ‘I have aneurysms in my neck right now. If I have a crick in my neck or I wake up and my neck is kind of sore, immediately I’m anxious like, “Oh, is this the aneurysm? Is this the day?”‘
These feelings intensified after she lost a friend to LDS last year who was just a year older than her: ‘That was the time where I knew that I had to really figure out how bad this was.’
Kayley continued: ‘The night before she passed away, we were texting about how similar our symptoms were. That shouldn’t be something that freaks you out, but when you pass away the next day it’s like, “Okay, so how similar are our symptoms really?”
‘As I grow older I have learned to grieve because maybe not growing old is something that really sucks.’
Kayley noted she has gone through several periods of depression and fears she ‘doesn’t have enough time,’ but is focused on making the most of every day.
She added: ‘I will do everything in my power to live the life that I choose to live. And if half the time I’m in the hospital for that, then the other half the time I’m going to be doing the things that I want.’
