a tennessee The college student suffers from a rare condition that makes her feel so weak that her body feels like it’s “melting.”
Kaylee, 20, was born with Lois Dietz Syndrome (LDS). This rare genetic disorder was only discovered by doctors 20 years ago, right around the time she was born.
Because LDS is so rare, the exact number of cases is still unknown. one review It is estimated that there are approximately 4,000 cases of infection worldwide.
This condition weakens connective tissue, the body’s “glue” that supports and gives structure to bones, muscles, and organs. This can lead to clubfoot, painful hyperflexion of joints, osteoarthritis, scoliosis, oral malformations, and ruptured hearts.
Kaylie has already undergone a number of procedures to manage her condition and reverse defects, including one immediately after birth to correct the position of her feet.
By the age of nine, she suffered from heart failure because an abnormality in the connective tissue surrounding the heart caused the organ to become too large. When this happens, the heart has to pump harder, weakening over time and eventually leading to heart failure.
She currently has six aneurysms throughout her body because her blood vessels have weakened and could burst at any time.
“Basically everything in my body is affected. I think I have the body of a 75-year-old,” Kayley said.
Kaylee, a 20-year-old college student from Tennessee, was born with Lois-Dietz syndrome, a condition in which the connective tissue in her body “melts.”
Despite the disease giving her a short life expectancy, Cayley said she is “crazy about life” and focused on making the most of her time.
In an interview with Special book by special kids“I like to call it ‘melting disorder,'” Kayley said. Basically, all my connective tissue is so weak that it can’t support me or support my skeletal system.
“Basically, everything in my body isn’t working properly. Connective tissue is like glue in the body, and my connective tissue is weak, so my body doesn’t assemble properly. yeah.
LDS patients also develop distinctive features such as widely spaced and slanted eyes, crooked fingers, swelling of the spine, and translucent skin.
Genetic disease. Approximately 1 in 3 people have a parent with the disease, and a parent with the disease has about a 50% chance of passing the defective gene to their child.
Patients are often born with heart defects because the disease causes the aorta to enlarge and the gastrointestinal tract and hollow organs to become inflamed and susceptible to rupture.
Kaylee has crooked fingers that have reduced mobility and are bent significantly in different directions. She wanted to have it straightened, but doctors think it’s past the stage of straightening.
Although she regularly does small exercises to increase hand strength.
Kaylee was born with her legs pointing backwards and required immediate knee surgery.
Kaylee had to wear a halo brace after undergoing one of 20 spinal surgeries when she was in middle school.
“I had so many other health issues that I didn’t have time to heal my hand,” Kayley said. [Doctors] Unfortunately I waited too long and they said there was nothing more they could do. ”
She also has clubfoot, weak blood vessels, and an aneurysm, which is a bulge in a blood vessel.
She currently has six of them in her body, and if they rupture they can cause fatal internal bleeding, causing shock, organ failure, and death from massive blood loss.
To date, she has undergone approximately 20 spinal surgeries and had seven rods inserted in her back to correct her severe scoliosis.
Life expectancy for LDS is only 37 years. The most common causes of death in these patients are aortic dissection (laceration of the aorta) and cerebral hemorrhage.
But because the disorder is so new, Cayley points out that “life expectancy is not an accurate depiction.” When LDS was first discovered, life expectancy was only 20 years.
Despite her struggles, Kaley calls herself “the luckiest person I know” and “so in love with life.”
However, she still sometimes struggles to come to terms with her own mortality.
Cayley’s hand is now severely bent and doctors fear it is too late to rebuild it.
“As I’ve gotten older, I’ve learned to grieve, because not getting older can really be the worst thing,” Kaley said of learning to face mortality.
She said in a YouTube video, “I have an aneurysm in my neck right now. When I have a crack in my neck or I wake up in the morning and my neck hurts, I immediately get anxious. I’m like, ‘Oh, is this an aneurysm? Not today. I wonder?”
These feelings were intensified last year after losing a friend who was only a year older than her to LDS. “That’s when I thought I really needed to understand how bad this was.”
Cayley continued, “The night before she died, we were texting about how similar our symptoms were. That shouldn’t surprise you, but the next day when you passed away, we were like, “So, we… How similar are the symptoms?
“As I’ve gotten older, I’ve learned to grieve, because not getting older can really be the worst thing.”
Kayley said she has experienced several bouts of depression and worries about “not having enough time”, but she is focused on making the most of each day.
She added, “I will do my best to live the life I choose.” And if you spend half the time in the hospital doing that, you get to do whatever you want the rest of the time. ”
