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International Rare Disease Day| "Unspeakable Secret" Behind "Beauty Disease"

16 years old

It's a spirited teenager

It's a sweaty run on the campus playground

It was the sound of shouting and reading from the classroom

It is a beautiful prelude to colorful university life

It is the infinite expectation of the vast world to travel

For Xiaohui, 16 years old is the beginning of a nightmare!

International Rare Disease Day| "Unspeakable Secret" Behind "Beauty Disease"

Multiple sclerosis, the nightmare of a flower girl

In 2016, Xiao Hui, who was still a freshman in high school, was walking to the classroom as usual, when she suddenly felt a dizziness, her limbs were numb, and she almost fell to the ground. "At that time, I thought that the pressure of studying was too much, so I went home and rested for two days, and I went to school normally without anything." The family didn't care. ”

After half a year, Xiaohui woke up and suddenly appeared face numbness, tinnitus, paplopia in the left eye, and could not lift her arm, and her parents quickly took her to a nearby hospital for treatment, and was initially diagnosed as a pre-multiple sclerosis. "When I heard the news, I was completely devastated. My parents couldn't believe it, led me to Nanjing and Shanghai major hospitals for medical treatment, and finally fate did not give us the opportunity to 'turn over', and many parties verified that it was indeed multiple sclerosis! ”

"For me at the age of 16, it was all about prematurely sentencing the 'death penalty', and the psychological pressure was very high. This disease is not sure when to attack, maybe you are still fine, but when you wake up, you suddenly have no strength, or the eyes can't see, listen to the doctor, the disease progression to the later stage may also appear urinary incontinence, stool incontinence. Mom and Dad smiled and comforted me on the surface, saying that it didn't matter, now that technology is very advanced, this kind of disease can be completely controlled, but in fact, I know that they have cried many times behind their backs. ”

Numbness, blindness, hemiplegia, the endless pain behind the "beauty disease"

In China, multiple sclerosis has been included in the "First Rare Disease Catalog", but compared with the rare diseases that are more familiar to the public, such as "frozen people", "porcelain dolls" and "glass people", multiple sclerosis has not officially entered the public's field of vision.

Multiple Sclerosis (MS) is an immune inflammatory demyelinating disease of the central nervous system that affects the normal innervation function of the nerves and is a chronic rare disease that mainly damages the spinal cord, brain, and optic nerves, and has a high recurrence and disability rate. At present, there are more than 2.5 million multiple sclerosis patients worldwide, mostly in young adults aged 20-40 years old, the prevalence of under 10 years old accounts for about 3%-5%, and female patients are about 1.5-2 times that of male patients, so it is also called "beauty disease", and behind the beautiful name represents a painful disease.

International Rare Disease Day| "Unspeakable Secret" Behind "Beauty Disease"

(Source: Tencent Medical Code)

Common symptoms of this disease are: limb weakness, paresthesia (pinprick sensation, numbness, etc.), visual abnormalities, ataxia, tonic spasms, dysarthria, epilepsy, pain and discomfort, urination or defecation dysfunction (such as frequent urination, urgency, urinary retention, urinary incontinence, etc.), and will also be accompanied by depression, irritability, cognitive dysfunction and other psychiatric symptoms. More importantly, the diagnosis cycle of multiple sclerosis is long, difficult, and costly. Most patients at the time of diagnosis say they have never heard of "multiple sclerosis" and are easily confused with other neurological disorders. It is recommended that once the patient has blurred vision and ghosting, limb numbness, slurred speech, convulsions, accompanied by symptoms such as urinary and urinary incontinence, he should go to the neurology department of the general hospital for treatment as soon as possible. At the same time, because of the diversity of its clinical symptoms, multidisciplinary collaborative diagnosis and treatment is also very important, such as patients with urinary disorder symptoms need to go to urology, language disorder patients can undergo relevant rehabilitation training, only through comprehensive and scientific treatment, can effectively reduce symptoms and delay recurrence.

Urination, defecation dysfunction, multiple sclerosis patients "unspeakable secret"

Relevant data show that patients with multiple sclerosis will be accompanied by different degrees of urination and defecation dysfunction during the course of the disease, such as urinary frequency, urgency, urinary incontinence, urinary retention, or constipation and diarrhea alternately. In addition, male patients with multiple sclerosis may also develop sexual dysfunction.

The problem of urination and defecation not only brings many "embarrassing moments" to patients, but also endangers the physical and mental health of patients when serious, and seriously affects their work and life. Therefore, we recommend that patients find early detection, early diagnosis, early treatment, away from the "runaway" problem, and return to normal social and life as soon as possible.

International Rare Disease Day| "Unspeakable Secret" Behind "Beauty Disease"

Symptomatic treatment, sacral nerve regulation therapy brings new hope

At present, the main treatment methods of urination and defecation dysfunction are behavioral therapy, drug treatment and surgical treatment. Among them, sacral nerve regulation therapy, as a minimally invasive surgical treatment, has the advantages of safety, reversibility and adjustability, and is being recognized by more and more doctors and patients.

Sacral Neuromodulation (SNM) refers to the implantation of electrodes into the position of the sacral nerve, the use of weak electrical impulses to continuously stimulate a specific sacral nerve, affecting and regulating the behavior of the effector organs innervated by the sacral nerve such as the bladder, urethral sphincter, sphincter and pelvic floor, and ultimately improving the treatment of lower urinary tract dysfunction, refractory bowel disorder and pelvic floor dysfunction.

A number of studies have confirmed that sacral nerve regulation therapy can be effective in treating urination and defecation disorders in patients with multiple sclerosis. Some scholars have pointed out that sacral nerve regulation therapy can be used for stable or slow-progression conservative treatment of patients with multiple sclerosis who are difficult to alleviate urinary storage and urination symptoms, which is a safe and effective treatment method for lower urinary tract symptoms in patients with multiple sclerosis, and is expected to become an effective and safe treatment choice for the treatment of lower urinary tract symptoms in patients with multiple sclerosis, especially for bladder hyperactivity (OAB) symptoms.

Targeted treatment is required when the symptomatic treatment needs of patients with multiple sclerosis is urination or defecation disorders. Since the world's first sacral nerve stimulator was approved for marketing in 1994, sacral nerve regulation therapy has been used for more than 28 years for urination and defecation disorders, benefiting 325,000 patients worldwide, and can predict the treatment effect through phase I testing. Therefore, in the case of ineffective or intolerant conservative treatment and drug therapy, for some patients with non-mechanical causes, sacral nerve regulation therapy can be considered to improve related symptoms, improve the quality of life of patients, and return to a healthy life.

Although the current multiple sclerosis can not be completely cured, but this does not mean that "there is no way to do", scientific diagnosis and treatment can effectively control and alleviate the disease symptoms and development process, so early detection, early treatment, early benefit is crucial!

The upcoming 28 February is International Rare Disease Day, and this year's theme is "Share Your Colours". Let us join hands in the action of "paying attention to rare diseases and caring for rare disease patients", encourage more rare disease patients to "go out", show their unique colors, and jointly draw a better tomorrow!

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