TO Tennessee A university 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 doctors discovered just two decades ago, right around the time she was born.
SUD is so rare that the exact number of cases is still unclear. One review It is estimated that there were approximately 4,000 cases worldwide.
The condition weakens connective tissue, the body’s “glue” that supports and gives structure to bones, muscles and organs. This causes clubfoot, painful joint hyperflexion, osteoarthritis, scoliosis, oral malformations and heart ruptures.
Kayley has already received a series of procedures to monitor her condition and reverse defects, including one immediately after birth to correct the position of her legs.
At age nine, he suffered heart failure because abnormal connective tissue surrounding his heart allowed the organ to grow too much. When this happens, the heart has to pump harder, which weakens it over time and eventually causes heart failure.
Now, his weakened blood vessels have caused six aneurysms throughout his body, which could burst at any moment.
Kayley said: ‘Basically anything 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 has left her body’s connective tissues ‘melting’
Despite the low life expectancy of the disease, 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 childrenKayley said: ‘I like to call it “The Fusion Disorder.” Basically, my connective tissue, all of it, is super weak, so it doesn’t really support me or my skeletal system.
‘Basically, anything on my body doesn’t hold up as well as it should. Connective tissue is like glue for your body, and since mine is weaker, my body just isn’t put together very well.
SUD patients also develop distinctive features such as widely spaced and slanted eyes, curled fingers, swelling in the spine, and translucent skin.
A genetic disorder, about one in three patients has a parent with it, and a parent with the condition has about a 50 percent chance of passing the defective 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 rupture.
Kayley also has bent fingers which reduce mobility and are severely bent in different directions. While she wanted them fixed, doctors believe they are past the point of correction.
Although he regularly does small exercises to increase strength in his hands.
Kayley was born with her legs backwards, requiring immediate knee surgery.
As a high school student, Kayley had to have an orthopedic halo fitted 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.” (The doctors) unfortunately said that because I waited so long that they can’t do anything anymore.’
You also have club feet, weak blood vessels, and aneurysms (the dilation of blood vessels).
He currently has six spread throughout his body, and if they rupture, they can cause fatal internal bleeding, resulting in shock, organ failure, and death from massive blood loss.
To date, he has undergone about 20 spinal surgeries and has had seven rods placed in his back to correct his severe scoliosis.
LDS has a life expectancy of only 37 years. The most common cause of death in these patients is aortic dissection (a tear in the aorta) and brain hemorrhages.
However, Kayley notes that “life expectancy is not an accurate description” since the disorder is so new. When SUD was first discovered, life expectancy was only 20 years.
Despite her struggles, Kayley considers herself “the luckiest person I know” and “loves life so much.”
But sometimes he still struggles to come to grips with his own mortality.
Kayley’s hands are now severely bent and doctors fear it may be too late to reconstruct them.
“As I got older, I learned to cry because maybe not aging is something that really sucks,” Kayley said of learning to face her mortality.
She said in the YouTube video: ‘I have aneurysms in my neck right now. If I have a neck crisis or I wake up and my neck hurts a little bit, I immediately get anxious and say, “Oh, is this the aneurysm? Is this the day?”
These feelings intensified after she lost a friend to the Latter-day Saints last year who was only a year older than her: “That was the moment I knew I had to really find out how bad it was.” this”.
Kayley continued: ‘The night before he passed, we were texting each other about how similar our symptoms were. That shouldn’t be something that scares you, but when you pass away the next day it’s like, “Okay, how similar are our symptoms really?”
“As I’ve gotten older, I’ve learned to grieve because maybe not aging is something that really sucks.”
Kayley noted that she has gone through several periods of depression and fears that she doesn’t have enough time, but she is focused on making the most of each day.
He added: ‘I will do everything in my power to live the life I choose to live. And if half the time I’m in the hospital for it, the other half of the time I’ll be doing the things I want.’