My body is melting from the inside out due to a rare condition and my organs could burst at any moment
A Tennessee A student’s rare condition has left her body so weak it feels like she is ‘melting’.
Kayley, 20, was born with Loeys-Dietz syndrome (LDS), a rare genetic condition that was only discovered by doctors 20 years ago, right around the time she was born.
LDS is so rare that the exact number of cases is still unclear. A judgement it was estimated that there were approximately 4,000 cases worldwide.
The condition weakens the connective tissue – ‘the glue’ of the body that supports and provides structure to bones, muscles and organs. This leads to club feet, painful joint hyperflexion, osteoarthritis, scoliosis, oral deformities and fractures in the heart.
Kayley has already undergone a number of procedures to manage her condition and reverse defects, including a procedure immediately after birth to correct the position of her legs.
When she was nine years old, she developed heart failure because the abnormal connective tissue around her heart caused 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 everything on my body is affected. I would say I have the body of a 75-year-old.”
Kayley, a 20-year-old college student in Tennessee, was born with Loeys-Dietz syndrome, which causes the connective tissue in her body to “melt”
Despite the condition’s low life expectancy, Kayley says she is ‘in love with life’ and is focusing on making the most of the time she has
In an interview with Special books by special childrenKayley said, “I like to call it ‘The Melting Disorder.’ Basically, all my connective tissue is super weak, and so it doesn’t really hold me up, nor does it hold down my skeletal system.
‘Actually, everything in my body isn’t holding up as well as it should. Connective tissue is like glue to your body, and because mine is weaker, my body just isn’t put together very well.
LDS patients also develop several features, such as wide-set and slanted eyes, bent fingers, swelling in the spine, and translucent skin.
It is a genetic condition. About one in three patients has a parent with it, and a parent with the condition has about a 50 percent chance of passing on the defective gene to their children.
Patients are often born with heart defects because the condition enlarges the aorta, as well as inflammation in the gastrointestinal tract and hollow organs that are prone to rupture.
Kayley also has bent fingers that reduce mobility and are severely bent in different directions. Although she wanted to have them repaired, doctors think they are past the point of correction.
Although she regularly does small exercises to increase the strength in her hands.
Kayley was born with her legs turned backwards, which required immediate knee surgery
As a high school student, Kayley had to get a halo brace after undergoing one of 20 spinal surgeries
Kayley said: ‘I’ve had so many other health problems that I’ve never had time to fix my hands. (Doctors) unfortunately said that because I waited so long that there is nothing more they can do.”
She also has club feet, weak blood vessels and aneurysms – the swelling of blood vessels.
She currently has six of them spread throughout her body, and if they rupture they can lead to fatal internal bleeding, causing shock, organ failure and death due to the massive blood loss.
To date, she has undergone approximately 20 spinal surgeries and has had seven rods placed in her back to correct her severe scoliosis.
LDS has a life expectancy of only 37 years. The most common cause of death in these patients is an aortic dissection – a tear in the aorta – and cerebral hemorrhage.
However, Kayley notes that “life expectancy is not an accurate representation” because the condition is so new. When LDS was first discovered, life expectancy was only twenty years.
Despite her problems, Kayley calls herself “the happiest person I know” and “loves life very much.”
But she still sometimes struggles to face her own mortality.
Kayley’s hands are now severely bent and doctors fear it may be too late to reconstruct them
“As I’ve gotten older, I’ve learned to grieve because maybe not growing old is something that really sucks,” Kayley said of coming to terms with her mortality
She said in the YouTube video: “I currently have aneurysms in my neck. When I have a tickle in my neck or I wake up and my neck hurts a little, I immediately think, “Oh, is this the aneurysm? Is this the day?”
These feelings intensified after she lost a friend only a year older than her to the LDS last year: “That’s when I knew I really had to find out how bad this was.”
Kayley continued, “The night before she passed away, we texted about how similar our symptoms were. That shouldn’t be something that scares you, but if you die the next day you’re like, “Okay, so how similar are our symptoms anyway?”
“As I’ve gotten older, I’ve learned to grieve, because maybe not growing old is something that’s really annoying.”
Kayley noted that she has gone through several bouts of depression and worries that she “doesn’t have enough time,” but tries to make the most of each day.
She added: “I will do everything in my power to live the life I choose to live. And if I spend half the time in the hospital, then the other half of the time I’m going to do the things I want.’