Patient Stories | Forty Years of Illness, Two Heart Surgeries, Before I Knew I Was a Rare Disease Pa

I am a homozygous familial hypercholesterolemia patient, and it wasn't until 2024 that I learned the heart problem that had plagued me for so many years was actually a rare disease. My body had been eroded by the invisible "killer" of low-density lipoprotein for 40 years.

^⌈  My childhood was "unusual". ⌋

I was born in a rural area in the 1980s. Like all those born in the 1980s, I had a carefree childhood, except that my childhood had something strange compared to my peers—xanthomas.

Starting when I was four or five years old, I developed some small yellow bumps on my buttocks. In the late 1980s, when transportation was inconvenient in rural China, my family didn't pay much attention to these bumps and were unwilling to go to the hospital. They simply thought it was a common skin disease, unaware that it was caused by low-density lipoprotein.

In the following years, small yellow bumps appeared on various joints of my body. Under the strange looks of my peers and the shadow of extreme inferiority, I spent my childhood in fear and unforgettable circumstances.

This is just the beginning.Until 1995, when I was 12 years old.，It suddenly appeared after a run.Syncope and shockIt was only when I started experiencing symptoms that my family realized the seriousness of the problem and took me to the local municipal hospital.

At the city hospital, I learned from a dermatologist that the small yellow bumps on my body were called xanthomas. At the time, the doctor did not know what caused them and could not provide a treatment plan.

^⌈  Low-density lipoprotein cholesterol
Exceeding the standard by approximately 5 times ⌋

When did I find out I had high cholesterol? I looked through my family's oldest cholesterol test report...In 1996,13 years oldMy LDL cholesterol is as high as 11.8 mmol/L.(The normal range is <3.4mmol/L). At the time, I didn't understand what serious consequences such a value would bring me. I thought it was just ordinary high blood lipids, which could be lowered by taking medicine. I also tried Chinese medicine to lower lipids for a period of time, but the effect was minimal.

Besides high cholesterol and xanthomas that have been bothering me, I also had frequent nosebleeds when I was a child, which were always unstoppable. I even had to call an ambulance twice. My health condition was getting worse and worse.Even though I was in the stage of growing up, I only weighed 80 or 90 pounds and was less than 1.6 meters tall. I was severely malnourished and looked much smaller than other children my age.

My family was often anxious about my condition, and they knew things couldn't continue like this. So, they took me to a hospital in the provincial capital. The doctor who examined me was quite surprised; he had never seen a teenager with such high cholesterol levels!

Lowering my blood lipid levels was the top priority, so I started using statins, but the effect was not good. My LDL cholesterol level kept dropping, remaining between 7 mmol/L and 10 mmol/L.

^⌈  Life-or-death ordeal in the operating room ⌋

What hit me head-on was2005My aortic valve has become severely narrowed, and my cardiologist recommended that I have surgery in a cardiac surgeon.

That year I was only22 years oldIt was truly a life-or-death ordeal; I underwent aortic valve replacement surgery with root dilation.

Surgical aortic valve replacement (SAVR) is the primary treatment for severe aortic stenosis (AS), most of which is caused by age-related aortic valve degeneration. It's not common for someone my age to undergo such surgery, especially back in 2005; the procedure was extremely challenging at the time.。

At first, I didn't know how difficult the surgery would be. The doctor performed the usual preoperative examinations, including a cardiac ultrasound and other routine tests. However, during the surgery, they discovered that my valves were severely calcified. The entire surgery took seven or eight hours.

My family said that waiting outside the operating room felt like an eternity, filled with anxiety. They didn't know how much time had passed before they saw the doctor slowly pushing my hospital bed out of the operating room. The feelings they had were indescribable.

After the surgery, I endured a long and agonizing ordeal in the ICU. My body was covered in tubes, and I couldn't move at all. I even had to breathe with the help of a ventilator, which was extremely uncomfortable. I could only communicate with the nurses using gestures.

With the love and support of my family, I bravely weathered that unbearable time. I am also grateful that I escaped this ordeal. Life is short, and every extra day you live is a bonus.

After being discharged from the hospital, the doctor instructed me to have my coagulation indicators checked regularly and to undergo anticoagulation therapy.

After the surgery, I have been actively cooperating with anticoagulation and lipid-lowering treatments, but my blood lipid levels remain high.

^⌈  A life full of ups and downs ⌋

untilI was 28 years old in 2011.，On one occasion, I went to the cardiology department for a consultation. An intern saw that I was having trouble buying medicine because imported rosuvastatin could only be purchased at the hospital's special pharmacy at that time. So she introduced me to a pharmaceutical representative.

Later, this pharmaceutical representative introduced me to a cardiology expert from Wuhan. This expert happened to be in our provincial capital for an exchange program, and he adjusted my lipid-lowering regimen, having me use...Statins and ezetimibe are used to control [the condition].The low-density uric acid level only dropped slightly to around 5.0 mmol/L, and even at its lowest, it was still above 4.0 mmol/L. However, this level is still far from acceptable, and the low-density uric acid level will continue to affect my heart function.

For the next ten years or so, I searched for a solution, only to be disappointed time and time again. It seemed like I had no way to deal with it (low density).

I gradually learned to compromise, and because of work and family, I tried to shift my energy to other things.

What people fear most often comes to pass.In 2022,During a cardiac ultrasound, the doctor discovered pannus around my aortic valve, which once again triggered my high cholesterol problem.Severe aortic valve stenosisAnother surgery is required.

The "second surgery" was like a bolt from the blue, almost shattering my hope for the future. I don't know how I can climb out of this abyss.Currently, I am at home awaiting my second heart surgery. Another huge challenge lies ahead of me. Although there are many difficulties, I will face this challenge positively and believe that I will see a rainbow after the storm.

^⌈  Join the Red Rice family ⌋

Life has many misfortunes, but also many good fortunes.This year, I saw the "Red Rice Grain" organization online and joined this warm family. I received a lot of help from fellow patients, especially Ms. Chen Nazhen, the founder of "Red Rice Grain". She actively helped us contact hospitals, which gave me hope and gave me a completely new understanding of my disease.

Through genetic testing, I also confirmed that my ldlr gene has mutated, and I am a homozygous familial hypercholesterolemia patient (a rare disease).

Genetic testing report

^⌈  The world has kissed me with pain, I will repay it with song. ⌋

In my 40-year battle with illness, I have gradually come to understand that happiness has come far more often than suffering.I have two lovely children and a loving partner. We take advantage of holidays to travel to other places, enjoy the gifts of nature, and experience the joy of family time. My older son adores his younger brother and often teases him, filling our home with their happy laughter. We love each other as a family, and I always feel the warmth of family.

Tagore wrote in his poem, "The world kisses me with pain, and I will repay it with song." May everyone who loves life find the source of their own happiness, not be burdened by life's suffering, and bravely face all hardships. Perhaps this is the true meaning of life.。

This article was submitted by a patient with FH (Fever) at Red Rice Grain.
The images in this article have been authorized by the patient and may not be used without permission.