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Liang Fen, from Hengyang, Hunan province, whose son has Gaucher disease

In the summer of 2017, when my son was 3, he suddenly began having constant nosebleeds and his liver started to swell.

I took him to several hospitals in Hengyang, and some of the doctors thought he might have leukemia.

Despite two months of treatment, Mobao"s condition did not improve, so in October of that year I took him to the Chinese PLA General Hospital in Beijing. He was diagnosed with Gaucher disease, a very rare illness.

The doctors at the hospital told me that Cerezyme, a drug developed by the French pharmaceutical company Sanofi, was the only effective treatment available.

Each dose costs 28,000 yuan ($4,000). That was too expensive, but we had no choice. We had some savings and were planning to rebuild our house, but we decided to delay the repairs so we could use the money for Mobao"s treatment.

However, after a few months, the treatment was too expensive, so I asked about alternatives.

Eventually, I started buying a generic overseas drug from a dealer.

Each dose costs about 12,000 yuan, much cheaper than the patented drug. I visit Beijing a couple of times a year to buy the medication.

The alternative drug is effective, but it is still too expensive for me. My son weighs more than 15 kilograms, which means he needs three doses every month for optimum effect, but we can only afford to give him one injection a month.

He attends kindergarten and his condition is basically stable, but he is shorter than his peers and tends to have fevers and catch flu. He usually wears a mask at kindergarten to prevent infection.

After Mobao was confirmed with the disease, the local civil affairs authorities provided some help, such as giving him a basic living allowance and a one-time donation of 10,000 yuan.

My dearest wish is to see Cerezyme included in the basic medical insurance program for Hunan province, so the cost can be reimbursed.

To treat my son"s illness, we have spent all our savings and borrowed more than 200,000 yuan from friends and relatives.

I have heard that Cerezyme has been included in basic medical insurance programs in some wealthier places, such as Zhejiang province and Shanghai.

Over the past few years, I have maintained contact with the medial insurance authorities, and this year I received some good news when a couple of officials told me Cerezyme may become reimbursable in more regions by the end of the year.

I think the authorities have strengthened efforts to help patients with rare diseases in the past two years, and I am confident that drugs to treat Gaucher patients like my son will soon become affordable.

I hope more doctors will soon be able to diagnose and treat Gaucher disease.

My son is the only Gaucher patient in Hengyang, so every time I take him to hospitals, including the biggest one in the city, none of the doctors has ever seen a Gaucher patient before, so they refuse to treat him unless we sign a consent form.

Liang Fen spoke with Wang Xiaodong.

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