Hello, I’m Mikan, a woman living in Japan.
I have been diagnosed with Loeys-Dietz Syndrome (LDS), and today I’d like to share the journey of my health leading up to that diagnosis.
What is Loeys-Dietz Syndrome?
Loeys-Dietz Syndrome is a genetic disorder caused by mutations that weaken connective tissue. As a result, individuals with LDS tend to develop aneurysms and other vascular abnormalities at a younger age than most people. Additionally, symptoms like scoliosis and pectus excavatum may appear. Although LDS shares similarities with Marfan syndrome, the underlying genetic causes are different. In Japan, LDS is registered as a designated intractable disease, which means patients can receive public financial support for medical expenses.
Surgery for Lumbar Spondylolisthesis (Age 14)
The first sign of trouble occurred when I was in junior high. I began experiencing back pain and visited an orthopedic clinic, where I underwent rehabilitation with little improvement. Eventually, I was referred to a university hospital.
At the university hospital, I was diagnosed with lumbar spondylolisthesis. I underwent surgery to realign my displaced vertebrae and have them fixed in place with titanium. Although I’m not sure if this surgery was related to LDS, it was the first major operation of my life.
Discovery of Carotid Artery Tortuosity (Age 18)
When I was 18, I suffered from persistent migraines and visited a neurosurgeon. It was then discovered that I had a tortuous (twisted) carotid artery. I was referred to a university hospital and underwent a CT scan, but no abnormalities were found.
I was asked to return for further testing later, but I actually forgot about the appointment (laughs) since my headaches had subsided. Looking back, I learned that arterial tortuosity is one of the signs often seen in people with LDS. Perhaps if I had followed up properly, I might have been diagnosed earlier (laughs).
Discovering a Lump (Age 24)
At 24, I noticed a lump near an artery in my neck. During a routine health checkup, I consulted an internist about it. The doctor said, “It looks like a trace of vascular inflammation; you don’t need to worry about it!” That reassured me at the time—even though this lump later turned out to be an aneurysm.
Abdominal Aortic Aneurysm Found at a Gynecological Checkup (Age 28)
At age 28, I noticed a swelling in my abdomen that was pulsating. Initially, I thought it might just be constipation and tried to manage it with massage. However, when the condition didn’t improve, I began to worry it might not be simple constipation after all.
To investigate my symptoms further, I used an AI tool called “Ubie” which suggested that I might have an ovarian cyst. Since it was time for my regular gynecological checkup, I went to see a doctor.
During the exam, the gynecologist remarked, “There’s something that looks like a mass similar to a ‘Coagra’.” The doctor immediately provided me with a referral to a university hospital.
The Diagnosis of Loeys-Dietz Syndrome
At the university hospital, further testing revealed that I had an abdominal aortic aneurysm and that surgery was necessary. I was also advised to undergo genetic testing prior to the surgery. That genetic test ultimately confirmed that I have Loeys-Dietz Syndrome.
What I Want to Share Through This Blog
One of the biggest challenges I faced after becoming ill was not being able to find others with the same condition, which made it difficult to imagine what life would be like after treatment or surgery. When there are so many unknowns, anxiety naturally increases.
From now on, I plan to write about my surgical experiences and daily life. I hope that by sharing my story, I can provide some guidance and comfort to someone out there facing similar challenges.
