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Even if there is a sore spot, there are cases in which the name of the disease cannot be identified when a CT or MRI is taken.
Rare diseases caused by genes also take a long time to diagnose, so it is easy to miss the golden time for treatment. Let's find out the reality and find alternatives.
First of all, I am reporter Han Seong-hee.
[ Reporter
] Choi Gwang-hyeon, a 20-year-old living in Daejeon, suddenly lost sight last summer.
[Kwang-Hyun Choi/Patient with a rare genetic disease: Right eye (visual acuity) is about 0.02 now, and it is almost difficult to recognize things like letters.] The
ophthalmologist took a brain MRI saying it was optic neuritis, but the result was 'no abnormality'
[Kwang -Hyun Choi
/Rare genetic disease patient: There is no abnormality on the MRI.
Fortunately, the professor seems to have some genetic factor in this.] As a
result of the genetic test, Mr. Leber's optic nerve atrophy.
It is a rare genetic disorder that causes sudden blindness in adult males.
Choi eventually decided to quit her job as a social worker.
Kwak Hyo-seop, a man in his 40s, also visited a university hospital two years ago with sudden blurred vision, and he was diagnosed as requiring brain surgery.
[Kwak Hyo-seop/Rare genetic disease patient: Because of the high intracranial pressure, it will press on the optic nerve and you won't be able to see it well, so I was diagnosed first.
He had brain surgery.]
He put a device on his brain to lower the pressure on his brain, and after 6 months, his vision was said to be restored, but it got worse.
[Kwak Hyo-seop/Rare genetic disease patient: After surgery, this dark spot (in the eye) kept getting bigger.]
After brain surgery, I visited several hospitals for nearly 9 months and got a genetic test, and it was Leber's disease.
In a domestic survey, it took an average of 5 years to be diagnosed with a genetic rare disease, and it was found that the golden time for treatment was missed.
The cost of treatment, which the patient has to bear in full, is also a problem.
[Kwanghyeon Choi/Patient with a rare genetic disease: I just take a nutrient called Idebenone because of the cost burden.]
[Hyo-seop Kwak/Patient with a rare genetic disease: I heard that it was 7.5 million won per month (only for the medicine).
So I couldn't even dare to try it.]
As a result of a survey by the UK Health Service, it was found that more than 3 million people, or about 4% of the total population, have a rare genetic disease, and half of them develop when they are adults.
It is estimated that about 2-4% of our population also suffers from rare genetic diseases.
(Video coverage: Kim Gyun-jong, Video editing: Lee Sang-min, VJ: Shin So-young)
▶ Estimated 2 million rare disease patients...
The solution is 'national diagnosis'