Rare disease patient : Who comes to look after us

Rare disease patient : Who comes to look after us
At the 2011 national two Conferences that has just closed, member of the CPPCC National Committee, Professor Li Dingguo, head of the department of internal medicine of Shanghai Xinhua hospital, took out Again motion >> . This is he and other 12 Since the famous member of the CPPCC National Committee is 2009 Relevant rare of disease that put forward at national two Conferences since being annual 6 motions. He says : " Rare disease legislate, can't any more tow, let make warm quickly the sunlight shines on the whole world get more rare the intersection of disease and patient. "
" L There is silver mountain of Kingsoft in the family, one PKU can be eaten into a deserted mountain " R
This is a sunny day . Graceful to stand up early in the morning, see mother is cooking breakfast for her with the purpose-built flour. Though food that work it out mouthfeel good, taste widowed and light, this keep what life need.
The ones that are pitching a pigtail are graceful to look to be like other children. 2 the beginning at the this year such as she, the score in the class comes out at the top. Except special biscuit, rice, flour and few fruits, she does not have other snacks that can be eaten. At noon, she must go home at once and have a meal and go back to school. A lot of classmates have not perceived this secret yet .
Originally, graceful and was sifted and checked and suffered from a kind of rare genetic disease when born in - -Benzene acetonuria disease (PKU) . Suffer from the child of disease can't normal the intersection of supersession and first kind call " Third amino acid of benzene " R Amino acid,accumulate once this kinds of amino acid too much,will damage brain development. The general food contains protein, and there must be third amino acid of benzene in protein, so they can't eat, can only treat the food.
It is lucky to be graceful, because intervene and treat in time and insist on taking the food of special medicine, her growth and intelligence development are not influenced. But in order to cure the disease for the daughter, the graceful father earns the money desperately outside, mother has worked as the full-time mother. " I can't give the child to any nurse. It is cooked that the child's meal is very difficult, do not do well once, must do repeatedly twice, three times, who of the stranger has this patience? " Run between home and kindergarten, school, hospital, rehabilitation institution for a long time, the graceful mother has paid the inconceivable hardships.
However, a lot of PKU patients are not graceful and lucky. Before endocrine, hereditary supersession specialized department clinic of Shanghai Xinhua hospital, often can see parents hold those hair withered and yellow, the intersection of sight and dull, the intersection of PKU and infant that size lack proper care, will talk in the chest. " They are not sifted to find out, these children have been delayed when being born in. " Talk about these children, mood of Professor Gu XueFan who is engaged in studying in hereditary metabolic disease for a long time is very heavy.
Professor Gu XueFan is that newborn child's illness of one moment of virgin health care branches of Chinese preventive medicine sifts and looks into to study group's group leader, pediatrics medical endocrine of research institute, chief of research office of hereditary supersession of Shanghai. As far back as the eighties of last century, he was just under the leadership of tutor Professor Chen RuiGuan, begin to be engaged in clinical research of PKU and normal research of making a diagnosis. At present, the discipline group that he headed has already accumulated the case storehouse for over 1700 PKU patients, count the most research institution as the domestic case.

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