[Cover story] No more rare diseases? - (1)

 Cover story: No more rare diseases?

Government expresses its lack of intention of augmentation in the support application policy for patients with rare diseases

The government expresses its lack of intention of augmentation in the support application policy for patients with rare diseases
 

        ▲ Song Hae-ryong, head of the Rare and Intractable Disease Center at Korea University Guro Hospital, is looking at the condition of a child with achondroplasia.

# When I first noticed that my child's legs were a little more bent than other children, I just thought, "It will get better as he grows up, it's nothing." Even at the local clinic I went to just in case, they only said that the child looked weak, so I paid more attention to what he ate. However, even when it was time to stand up and run after he turned one, he had trouble standing up. I was worried that there might be something wrong with my child, but when I went back to the hospital, they just told me to watch him more or go to a big university hospital. It was not easy to take my sick child from Jeju Island to Seoul for examination. I think I had hoped that it was just a worry. That's why I expected him to wear leg braces and get healthy quickly so he could play with other children. In the meantime, we had our second child. To make matters worse, the second child showed the same appearance as the first. I couldn't just sit still anymore. I started looking for hospitals that were good and doctors who were famous. After going back and forth to large hospitals in Seoul several times, I was able to find out why my children were sick. I regretted the moment I hesitated even for a moment. I couldn't believe it, or rather, I didn't want to believe it. They were children who lived in Jeju Island and had never left the beach. They were children who liked to go outside even when it was difficult, until their skin turned red and peeled off white. Those children have vitamin D-resistant rickets, rickets.

I went back and forth from Jeju Island to Seoul hundreds of times to treat my children, to the point where I developed a fear of flying. Whenever I saw my children struggling when I went to Seoul, I wanted to move near the hospital right away. But I couldn't tell my husband to quit his job and go to Seoul. The only reason I can afford the hospital bills and transportation costs is because my husband is working hard at a solid company. However, I am worried about whether I will be able to afford the increasing hospital bills and treatment costs as the days go by and the children grow up.

This is the story of A, the mother of a brother and sister with vitamin D-resistant rickets whom I met at the Korea University Guro Hospital Rare Disease Research Institute. A has poor geographical conditions, but is relatively better off economically. B, who posted a post titled 'Please register achalasia (esophageal achalasia) in the medical expense support list' in the 'Rare and Intractable Disease Helpline' online counseling room operated by the Korea Centers for Disease Control and Prevention. He wrote, "I went to hospitals countless times in the provinces and learned about the disease achalasia for the first time at Seoul National University Hospital," and "I borrowed money from my father, who is a civil servant, using his retirement allowance as collateral to cover the hospital bills and surgery costs. I hope that people like me will be registered as having a rare and intractable disease so that they can reduce the burden of continuous check-ups and prescriptions."

As President-elect Park Geun-hye announced that she would increase the coverage rate (including non-coverage) for the four major serious diseases (cancer, heart, cerebrovascular, and rare intractable diseases) from the current 75% to 100% by 2016 (85% in 2013, 90% in 2014, 95% in 2015), interest in rare diseases has increased more than ever. However, even with President-elect Park's announcement, patients with rare diseases and related medical staff are showing a lukewarm response. Why?

Rare disease patients are 'orphans' abandoned by society

A rare disease is a disease with a prevalence of less than 20,000 people (less than 1 in 2,000 in Europe, less than 20,000 in the United States). There are currently about 7,000 known rare diseases, and only about 10% of them have treatments developed. Since there are very few patients, there is relatively less public interest. Simply put, in English, rare disease drugs are called 'Orphan Drugs'. 'Orphan', which means 'orphan' or 'isolated (or abandoned)', is a word that directly reflects the reality of rare disease patients, where there are few experts who can research and diagnose the disease, and it is difficult to expect the development of treatments (due to reasons such as lack of marketability).

It is impossible for individual rare disease patients to diagnose, treat, or care for themselves. Therefore, they have no choice but to rely on the support of the state and social organizations. The government also started providing medical expense support for four rare diseases, including ▲chronic renal failure, ▲hemophilia, ▲muscular dystrophy, and ▲Gaucher disease, in 2001, and gradually increased the number of targets to 6 in 2002, 8 in 2003, etc. Last year, the number of targets was expanded to 134 (the number of medical care benefit eligible targets was expanded from 107 to 144 this year). The 134 types of rare disease patients eligible for government support receive support through the 'Rare and Intractable Disease Calculation Special Exemption System', which reduces the co-payment to 10%, and the 'Co-payment Ceiling System', which sets a co-payment ceiling according to income level and refunds from health insurance when medical expenses exceed the ceiling. In addition, support is also provided for non-covered items such as nursing expenses, respiratory aids, cough inducers, and special diet purchase costs for some rare diseases.

The targets and scope of support have increased over the past 12 years, but the budget has been inconsistent and uneven. Since 2009, the budget has actually decreased. The government budget for rare diseases steadily increased from 22.641 billion won in 2001 to 39.124 billion won in 2007, then temporarily decreased to 37.512 billion won in 2008, and then increased again to 43.216 billion won in 2009. However, it continued to decrease to 39.013 billion won in 2010, 32.481 billion won in 2011, and 31.47 billion won in 2012.

Support depends on the type of rare disease

The most necessary thing for rare disease patients is, of course, financial support. In particular, many rare diseases are caused by genetic factors, and they have to bear the burden of expensive treatments that are not easy to develop. It is difficult for people with ordinary economic power to escape economic problems. A's worries in the interview above are also in the same context. However, not only is the related budget continuing to decrease, but it is also difficult to expect an expansion of support targets.

Park So-yeon, a health researcher at the Cardiovascular and Rare and Intractable Disease Division of the Korea Centers for Disease Control and Prevention, said, "There are criticisms that overlapping support for rare disease patients by applying the special calculation exemption system and the co-payment ceiling system is unfair compared to patients with other diseases," and "Increasing the number of diseases eligible for support has been suspended. Initially, we intended to supplement the existing support (special calculation exemption + co-payment ceiling system) last year, but we could not find a better supplement and decided to maintain the current support system until 2015."

Even if President-elect Park Geun-hye's pledge is implemented, it is only applied to the current 134 types, and it is likely that the appeal of B, an achalasia patient, to increase the number of support targets will remain an echo.

From the government's perspective, it would not be easy to increase support for people with a small number of lives, even if it is only a few dozen. Therefore, it is understandable that they have no choice but to apply the yardstick of fairness compared to thousands or tens of thousands of patients. Then, is the current rare disease support system being operated fairly?

As mentioned above, 'rare disease' refers to a disease with a prevalence rate of less than 20,000 in Korea, that is, a disease that affects a small number of patients. However, the current 134 types of rare diseases eligible for support also include 'chronic renal failure (limited to patients undergoing dialysis who have been diagnosed with grade 2 kidney disability)' and 'Parkinson's disease'. Among chronic renal failure patients, the number of dialysis patients eligible for rare disease support is known to be 56,395 as of 2009 (End-Stage Renal Disease Patient Registration Project of the Korean Society of Nephrology). The situation is not much different for Parkinson's disease patients. In other words, if done in principle, patients with chronic renal failure and Parkinson's disease cannot be eligible for rare disease support.

Kim Hyun-joo, chairman of the Korea Rare Disease Foundation, said, "I know that there are more than 40,000 people registered (as rare disease patients) due to renal failure," and "Renal failure does not meet the definition of a rare disease. Rather, it is a disease that requires systematic management as a chronic disease. Due to this incorrect policy, rare disease patients who really need support are not being included in the support targets."

The government is also aware of these systemic loopholes. Park Hyun-young, head of the Cardiovascular and Rare and Intractable Disease Division of the Korea Centers for Disease Control and Prevention, said, "The reason why we are currently supporting renal failure and Parkinson's disease by bundling them together as rare and intractable diseases is not because we have not identified the prevalence rate, but because there is no support for them, so we are embracing them."

[Source: Medical Times http://www.docdocdoc.co.kr/news/newsview.php?newscd=2013013000020 ]