Teacher, how long will the cause be unknown? February 10, 17:04 in anxiety that the diagnosis cannot be made

A year or a year and a half after birth, developmental delays gradually appeared.

Is it an illness or a disability?

Without a diagnosis, I was told many times, "Let's wait and see," and time passed.

"Teacher, how long will the 'cause unknown' remain?"

It was another year and three months later that the diagnosis was known.

(Director Yumeka Tamura, Reporter Ryota Miyazaki)

cheerful first cry

End of the year 2017.

This is Taichi-kun, who was born with a healthy first cry.

Weight is 2848 grams.

She was a child who often laughed in response to her mother's words.

After a month, it's time to get dressed up and go out for the first time.

I want you to grow up in good health.

That's what my parents wanted.

You can't walk yet, but you'll be fine

However, when he passed the age of 1, he could not sit up on his own and was unable to hold himself up to stand.

Even so, at the medical checkup, I was told, "There are individual differences, so let's see how it goes."

The child is unable to "speak", and even when he goes to the park, he cannot play like other children, and he is only in the stroller.

"My child can't walk yet."

"But it's fine.

"

Then, when he was one and a half years old, he was introduced to a nursing facility that took nearly an hour to drive from home, and started going there.

"What am I here for?"

Many children with severe illnesses and disabilities also attended the facility.

His father, Kenta, was frustrated by the fact that his parents still knew what kind of illness he had, but he still hadn't been diagnosed.

On the other hand, Taichi cried every time he received physical training at an unfamiliar facility.

I also cried for the entire 45 minutes of training, and Kenta-san was soothing me all the time.

As the time came to an end, on my way home, I suddenly burst into tears while holding the steering wheel.

"What did I come

here for?"

Her wife and the two of them continued to live a lonely and confined life.

Kenta:

"I said, 'I'm sorry, Tai-chan, please take me to the training you didn't want to do.'

finally hospitalized

One day I continued to go to the facility twice a week for more than a year.

Kenta said to the doctor at the facility.

Due to his daily suffering, his tone became strong.

He asked, ``How long will the cause

remain unknown ?

However, he was introduced to testing at the National Center for Child Health and Development in Setagaya Ward, Tokyo.

When he asked, "Please, please," he made a reservation and waited for half a year.

After half a year, he was finally admitted to the hospital for testing, and we waited for the results after conducting detailed tests such as genetic testing.

Only "7 people in the whole country"

After a month, I got the results.

"No abnormality".

No, it shouldn't be.

What should I do now?

Is there anything I can do anymore...

I spent more than half a year with indescribably complicated thoughts.

And last June.

The center contacted me again and said that there were some items that took a long time to get the results, so I will get the test results again, so I went to ask.

I was told that it was a rare disease.

The diagnosis is "Potki-Lupsky Syndrome".

It was the first time I had heard of the disease.

It is one of the rare and intractable diseases that is said to cause various developmental disorders due to partial chromosomal duplication.

At the time of diagnosis, there are only 7 cases in the country, or 7 patients.

It turned out to be the seventh patient.

It was when Taichi was four and a half years old.

there's more to do

I know the name of the disease, but it is an "intractable disease" for which there is no cure yet, and there is nothing we can do about it with today's medicine.

But there must be something more that can be done.

When Kenta searched the Internet, he found a doctor who had written a detailed paper on this disease.

Alright, let's send a direct mail out of nowhere.

His wife was amazed.

" If you do that,

you won't get a reply, right?"

After a while, I got a reply.

The doctor who emailed me was able to refer me to another doctor who knew more.

Furthermore, we receive suggestions such as “would you like to create a family association for patients?”

This led Kenta to participate in a patient association.

Parents who have children with the same disease can now exchange information and share their concerns.

After I was diagnosed with the disease, things began to change dramatically.

Mr. Kenta:

“I was able to talk to people after being diagnosed, which was a big factor. Knowing the name of the disease changes the way I approach it. I thought I might be able to go by winning.”

A diagnosis that took 10 years to reach

There are other patients and their families with rare and intractable diseases who have discovered the name of the disease that has been unknown for a long time and are starting to move towards the future.

Kohei Watanabe (17), a second-year high school student.

Kohei suffers from one of the congenital muscular dystrophies, "Ullrich's disease", but he was diagnosed when he was 10 years old.

"Ullrich's disease" is one of the country's designated intractable diseases for which there is no fundamental treatment, and only about 300 cases have been reported.

Since he was born, Kohei had weak muscles, and even when he fell, he was unable to put his hands on his hands, and was often injured by hitting his face and head.

As he grew up, he was unable to do the same things that the children around him were able to do, and now he uses a wheelchair to go to school.

After his diagnosis, Kohei's mother joined a patient group and started working for him.

"Isn't it better for me to do it?"

Kohei said that he was an elementary school student at the time of the diagnosis and did not feel it.

He said he didn't know at the time that his mother was participating in a patient association.

After that, when he was in the third year of junior high school, he suddenly felt something when he saw his mother struggling to update the website of the patient association.

When she realized, "Her family is doing various things that seem to be difficult, but I am not doing anything

. "

“Isn’t it better for me to do that?”

Standing in front of me, I understood the power of the parties

In 2019, with the support of his mother, who accepted his words, Kohei was appointed as the representative of the patient association in his third year of junior high school.

As a representative, I am involved in the management of regular meetings, lectures inviting researchers, and study sessions.

As he learned more about what kind of illness he was suffering from, he realized the importance of having the person himself/herself speak out.

As he continued to disseminate information, he began to think that he wanted to pursue a career in medicine and research Ullrich's disease, aiming to spread awareness and cure the disease.

Mr. Kohei:

"As long as it's an intractable disease, it's like walking with something weighted on, so I think there are times when you feel inferiority complex.

" It would be nice if there were even a few people who could see and hear about this and be encouraged. If I can stand at the forefront and show it, I think more people will follow me.”

Why is it taking so long to diagnose?

specialist is

Why is it taking so long to diagnose?

We asked Dr. Hideyuki Saya, Director of the Cancer Research Center at Fujita Health University, who is familiar with rare and intractable diseases.

Dr. Saya points out, "As the name suggests, rare and intractable diseases do not have many patients, so it is not always the case that the family doctor knows about the disease."

In the case of a disease with a very small number of patients, the doctor may have never encountered the disease before, which inevitably delays access to specialists, making it financially and costly for families for a long time. This means that the mental stress will continue.

Then what should I do.

Dr. Saya says that it is important to create an environment in which primary care physicians can quickly access specialists for rare and intractable diseases.

Dr. Hideyuki Saya

: “It is desirable for patients to see their primary care physician in the community, and then to see a specialist on a regular basis. We believe it is extremely important that primary care physicians have access to specialists.”

support in action

Movements to support this “collaboration” have also begun.

This is Mr. Koichi Kawaguchi, Executive Director of the Healthy Parents and Children Support Association, a general incorporated foundation that supports families with rare and intractable diseases.

We received many inquiries from doctors around the world saying, ``I don't know where to get tested for a disease that I have never seen before,'' and I felt the need for a system to share information.

In June of last year, we opened a website that introduces doctors specializing in rare and intractable diseases and testing institutions to primary care physicians in the region.

Currently, there is information on about 50 intractable diseases, and the information is updated even when doctors are transferred to other medical institutions.

There are some rare intractable childhood diseases that do not have academic societies, and because social and administrative recognition is slow, patients and families find it difficult to raise their voices, and they often have to live with misunderstandings and prejudices.

In the future, Mr. Kawaguchi would like to increase the types of intractable diseases introduced and enhance the site, as well as increase the support system, such as establishing a fund and employment support to support patients and their families financially. thinking about.

Koichi Kawaguchi:

“For a long time, the name of the disease is not fixed, and the disease becomes more severe, and the patients and their families are driven into a corner both financially and mentally. In order to make it useful to many people who are in need of it, I would like to make efforts such as raising awareness of it.”

A new dream my son gave me

Kenta and the Taichi family, introduced at the beginning of this article, are about to take a new step forward.

Taichi is 5 years old.

He had developmental delays, but was able to walk afterward.

Although he doesn't speak a word, he runs around and plays every day.

Kenta is now trying to establish an after-school day service for children with disabilities to attend after school and on holidays.

This is to create a place for Taichi-kun, who will soon become an elementary school student, to think about his future.

For Kenta, who has devoted himself to the restaurant business for more than 20 years, it is said that this is a new dream.

We are currently looking for crowdfunding to fund the opening.

Kenta:

"When I think about the future, I think, 'What can I leave behind for you? I think that by getting involved, I can leave a lot of specialists around Taichi who can help me, such as medical staff and nursery teachers.

Kenta's life has taken a big turn since Taichi's diagnosis.

At the end of the interview, he happened to say something.

“I think that parents who have a child with an intractable disease have a hard time and feel sorry for them, no, I was the same.”

Then he continued:

"But it's surprisingly fun, and even if I could go back in time, I still think that I want you to be the person you are now. I really don't want people to think I'm too sorry for them, because we're really glad that it's Taichi Taichi.

" So, he'll tease me and play pranks.It's no different from other children.He's cute.This smile is.That's my greatest salvation and support."

Director

Yumeka Tamura Responsible

for "Good Morning Japan" from 2022 Covering

themes related to education and welfare

Reporter

Ryota Miyazaki Joined the Bureau in

2012

After working at the Yamagata Bureau, he currently belongs to the

Ministry of Health, Labor and Welfare

.