[two thousandth]Toxins accumulated in Soyul's body every day

Medicine needed desperately

Soyul was diagnosed with a rare genetic disease of mucolipidosis type 2 at the age of one

Mucolipids accumulate and symptoms such as heart disease, bone contracture, and corneal opacity

Most die before age 10

Soyul, who turned 5 this year, stopped growing at 80cm and is no longer growing.

 

Her arms and legs are not straight and straight.

 

If you try to forcefully stretch it, you could break a bone.

 

This is because Soyul's bone density is low enough to be found in an elderly person in his 80s.

 

Soyul also has carpal tunnel syndrome, which affects 7 out of 10 people in their 70s.

 

Born in 2019 at 2.8kg, Soyul met the world with a dislocated hip joint.

 

When she was about six months old, she also suffered an inguinal hernia where her intestines protruded into her groin.

 

Soyul's small vertebrae seemed to be slightly bent.

 

Her parents, who were worried that their child was not growing well from the inside out, thought that Soyul might be ill and went to the local hospital.

 

The parents were a little relieved when the doctor said, "If it's not for a 0.01% rare disease, it will grow well." However, Soyul was diagnosed with a 0.01% rare disease.

 

It was a disease called 'mucolipidosis type 2', which has one of the highest numbers of patients worldwide.

 

Low growth, hip dislocation, scoliosis, umbilical/inguinal hernia, and many other symptoms that Soyul had to experience before she turned one year old were all due to this disease.

 

There is no cure for this disease, so it is an incurable disease that gradually worsens and leads to death before entering adolescence.

 

Soyul is a condition in which a large number of acidic polysaccharides and glycolipids accumulate in the body due to a lack of enzymes due to abnormalities in certain genes.

 

Broadly speaking, it belongs to one of the lysosomal storage diseases.

 

The complications that arise from this are so diverse that it is difficult for doctors to clearly define which symptoms will appear.

 

Some children may develop abnormalities in their heart valves, severe middle ear infections, or cloudy corneas.

 

Like Soyul, you may have frequent high fevers or problems with your joints.

 

Main symptoms of mucolipidosis type 2 (source: Korea Centers for Disease Control and Prevention)

“Symptoms appear differently depending on where the toxin called mucolipid accumulates.

 

Even looking at children with the same disease as Soyul, the main symptoms are very different.

 

Soyul’s joints are the most severe.

 

"I can't stretch my arms straight out.

 

I can't live, I can't touch my ears with my hands.

 

I also bent my fingers and toes inward, but it got better as I rehabilitated.

 

I have no choice but to keep rehabilitating so that it doesn't get worse."

Due to a rare disease, Soyul lives with frequent high fevers and the risk of pneumonia.

 

(Photo: courtesy of the patient

Thanks to hard rehabilitation last year and last year, Soyul even walked on two legs with the help of a walker.

 

My height, which was said to be no longer growing, has grown a little.

 

Her mother's thrill at seeing her like that did not last long.

 

Because Soyul's illness is still ongoing.

 

Soyul practicing walking.

 

(Photo: courtesy of the patient

"I told the doctor, and I heard that it was only that a child with mucolipidosis was able to walk, and that the disease did not disappear.

 

In the end, there was no medicine, so the symptoms reappeared and worsened.

 

Oh, I really shouldn't have hope.

 

That's it...

 

I wanted to." Reality sometimes does not allow for even the slightest hope.

 

Seeing the children with the same disease as So-yul leave one by one, So-yul's mother swallows her sadness every time.

 

She is terrified of what may happen to So-yul when and where.

 

According to a thesis examining the clinical characteristics of children diagnosed with this disease in Korea ('Analysis of clinical characteristics of mucosteatosis patients in Korea, including one case of mucosteatosis type 2 diagnosed with a new GNPTAB gene mutation'), Most are diagnosed in infancy, around age 2, and die within 10 years of age.

 

Respiratory problems were also cited as the leading cause of death.

 

"There is a group chat room for parents suffering from the same disease as Soyul to share information.

 

There were 9 children...

 

2 of them left us.

 

One child who recently left turned 11 and told us It was like a pillar.

 

That's why when Soyul is struggling with rehabilitation and cries sadly, I suddenly think, 'Is it true that I'm doing well right now?' I couldn't give up hope when I saw that I could walk, learn how to use a straw, and understand almost everything my mom and dad say because my cognitive abilities improved." Soyul is a 5-year-old girl who likes to play on the playground with her friends the most.

 

Seeing Soyul's smiling face, her mother finds hope in her again.

 

Soyul can feel more joy in the world, her mother informs her of So-yul's illness through SNS and begs him to make a cure for her.

 

And not too long ago, Soyul's mother said she got a really miraculous phone call from her.

 

She was informed that Soyul was going to develop a cure for her illness at Samsung Seoul Hospital, so she asked to participate.

 

"Somehow, the story of Samsung Electronics Chairman Lee Jae-yong's impersonation account became a lot of articles, but in fact, I didn't know that the account was an impersonation account (laughs).

 

It's just that Samsung Seoul Hospital made a mucopolysaccharidosis treatment that is related to mucolipidosis, so Samsung Seoul I think a hospital could make a cure for my child, because, as you know, this disease is so rare that there are less than 100 patients worldwide, and I wonder who would spend their time and money on this cheap bottle.

 

I almost gave up and sent a DM (direct message) to Chairman Lee Jae-yong's (impersonated) account every day, but I was so surprised to hear this." Soyul will undergo various tests to develop a treatment at Samsung Seoul Hospital next month.

 

You will also receive an injection to protect your weakened bones.

 

She plans to travel to Jeju Island with her family after the 5 days and 4 nights of examination and treatment.

 

For Soyul, whose respiratory system is particularly weak, and her winter is dangerous, her family diligently goes on a trip to remember her in the summer.

 

"I'm going to play hard with Soyul this summer.

 

And I'll work harder on Instagram and YouTube so that I can publicize Soyul's illness and take classes that Soyul finds interesting.

 

If anyone has to do something, Soyul and I will I think it should be done.

 

It would be great if more people came to know about this disease and progressed in a good direction.” So that Soyul and her children with mucolipidosis can welcome healthy teenagers.

 

So that we can see Soyul's smiling face every year.

 

Her mom gives her strength even today.

 

Soyul smiles at her mother (photo: courtesy of the patient