" Freeze people gradually " Story

" Freeze people gradually " Story
Li Shanshan

Stand up from sofa, breathe out the step in which the of human relations usually needs to include: Pin the sofa seat nearby on one's side, face the sofa back and do the form of creeping, replace from back of the chair to wall both hands upwards, then support the wall carefully, finding a delicate equilibrium could be unlocked, begin to walk totteringly.
Breathe out on wall of the bedroom of human relations, have three black impressions of the hand, " I supported out " . It is said, while going to the college, there is such rectangular and black blot on walls of a corridor in the school, it if you can't breathe out by human relations, go to school and leave school through when if you can't support, come out.

Nowadays, this 23 -year-old boy has graduated from university at home for already two years. These two years, the less he dares to go out, wonder when to fall down " .

It is a kind of rare disease to breathe out what the of human relations suffered from: Going on muscular dystrophy.

The wind can blow down him

"Perhaps let as a child to breathe out the of human relations and grow up on the horse back, he would not be like this. " Mother who breathes out the of human relations says. She thinks, the nationality on the horse back, shouldn't get this kind of disease.

It is the first child of this family of the Mongols, 3.9 kilograms when being born in to breathe out the of human relations, very sturdy, elders in the family all like this boy, because " he is never naughty, it is very calm and steady to do things. " The grade of primary school four, this " steady " Begin unexpectedly on wrestling,climb stair to every day by house of the fifth floor, he feels very straining.

This child begins to see the doctor everywhere, doctor does not know what disease this is.

In summer of 1999, were taken in breathing out the of human relations in grade six to BJ Union Hospital by parents. On the medical certificate, it " can accord with going on muscular dystrophy that the doctor writes down, Beeker type " .

" malnutritive " ? Go back to mend it just carefully. Breathe out human relations glad to follow parents, go home.

Later, a doctor tells a relative of his: This is hopeless case, some patients will only live for 30 years old.

" muscular dystrophy " ( MuscularDystroph) It is that the patient is known as " Freeze people gradually " More than 30 kinds neural muscle every one in disease. The most famous one " Freeze people gradually " It is physicist Huo Jin, he suffers from " the spinal side of amyotrophy asks for sclerosis " .

Speaking from the pathology, Huo Jin's disease belongs to " neural source " ,Pathological change takes place in the nerve, it is unable to control muscles, but " muscular dystrophy " Cause of disease come from patient muscle pathological change. Because the patient of muscular dystrophy lacks a certain albumen, skin cells will shrink, change the sex, primary necrosis, then people become unable. As age being longer and longer, the situation that skin cells damage will be more serious, influence the cardiac muscle and breathe the skin finally, thus result in consuming excessively and dying.

1830, British doctor Charles and Bell (CharlesBell) Having described a progressively weak boy in a thesis for the first time, that is the mankind, to " muscular dystrophy " The first time scientific describe. But at that time, these symptoms were only considered caused by tuberculosis.

So far, " muscular dystrophy " that the of human relations thinks that breathe out This name does not really get up well. The strange friend who often has the unidentified situation laughs at him: "Look so fat, how could be malnutritive? " They do not know, it looks that the puffiness is only because it is turned into fat and connective tissue that muscles degenerated.

That is it is most obvious to be influenced by disease is the leg which breathes out the of human relations. They look very stalwart - -The shank is as thick as thigh: The shank is very hard, the finger can not be pressed at all; The thigh one can not still bounce for a long time according to a hole. A young doctor in Peking Union Medical College Hospital tells reporters, it looks very loose that but there is no strength, this is a typical symptom of muscular dystrophy.

The consequence that muscles without strength is: Walk, incline behind the body, present C style of calligraphy upside down.

He clearly remembers, falls down in the middle of the road some time, nobody on the road, he climbs to the roadside little by little, catch pines and stand up little by little. The wood breaking out on the bark is stung and pitched into hand, very painful, can stand up at that time, he thinks " Very glad in the heart " .

From that time, he begins to be afraid of the weather in spring and autumn. These two pieces of monsoon are too heavy, he walks unstably - -The wind can blow down him.

There are not people that have suffered from this kind of disease in the family

It was in 2004 to breathe out the of human relations and is admitted to the university, that was a local university. When in college, he selects the lesson to have only two standards: The floor of the classroom should be low; Play time can't be too late, so as to not make it too dark and inconvenient to go home. Even if go to the library to read, he can only stay on the first floor, though there are only newspapers and magazines on the first floor.

In that university where he studies in, at seven or eight o'clock every night, the light in the dormitory area has been put out completely, the school is in order to look after him, allow him to have a rest in the dormitory in the evening. Turn on light, he sit in pitch-dark dormitory on one, " by the time one, dormitory the intersection of nest and mouse can run out, eyes accompany I perfectly round " .

By second year, he moved to outside school, parents rented the house to look after him nearby, call a taxi and go to school, go home every day, 5 yuan for once.

When the training graduates, the school has asked him, should promote one. Though the achievement is enough, he thinks, it is too difficult on the university these two and a half yearses. Half a year practise finally, his health has been already unable to support. Moreover, it was normal school speciality that studied in, did not suit the work of his health either.

One day of the end of November of 2008, just there was once slight snow. In the winter of this northern small city, breathed out the of human relations and has not already gone out for two weeks. Get up at eight nine every morning, have a meal, see mother retiring at home doing house work, help too once in a while. Then watch TV and have lunch, will go to have a look on the network in the afternoon, in the evening.

His room is very small, there is a short and short single bed, the foot of the bed is close to the computer desk - -There are only these two kinds of furniture in the room, it so happened that needn't take a long walk. Blue the intersection of stripe and old sheet and pillowcase of flower, pillow towel first bluish grey little Xiong.

Breathe out what the of human relations suffered from " Bake type muscular dystrophy " ( BMD) It is slightest one in relevant disease. The statistical data reveal: BMD patient has generally had illness coming on since teenagers period, this kind of disease usually can not be fatal, but patient can lose ability of walking while being about 30 years old. And the most serious " Du revitalizes muscular dystrophy " ( DMD) Patient, usually begin to have illness coming on before 10 years old, will die from to breathe at more than 20 years old, the circulatory system is depleted.

Studies have suggested, DMD and BMD come from a certain genetic defect on X chromosome - -Accompany X chromosome recessiveness and hereditary disease to usually appear. Accompany it in the patient of X chromosome recessiveness and hereditary disease, the boy whom mother that each person carried the going on pathogenic gene of muscular dystrophy gave birth to, ill probability is 50%, her daughter will not usually have illness coming on, but the person who carries who 50% of the chances become this pathogenic gene. But this kind of disease does not follow the companion X recessive heredity strictly. According to a piece of statistical data on " lancet " of 2002, there is no medical history in family of 1/ 3 of the DMD patients. For example breathe out the of human relations, before him, there are not people that had suffered from this kind of disease in the family.

In front of DMD, the boys are very fragile, there is one that will have this kind of genetic defects in every 3500~5000 boy babies. Women patient extremely rare, have accidental too, suggest " euthanasia apply the proposal " Li Yan.

Li Yan has illness coming on in a year old, already whole body has been weak and limp at the age of 28, it is very difficult to sit straight. She hopes she strives for the right of the death, because she can't imagine, without parents' kind treatment, it becomes how that one's own life will be over. She says: "I love the life, but I am unwilling to live. "

Breathe out the of human relations and say: "I can understand her, but I do not agree to euthanasia. After all Alive, hopeful. "

Live on, always hopeful. This view, in the study website " excellent counterpart " that muscular dystrophy patients established China is very common. Just can use network search for, breathe out human relations first keyword that husband spend: Going on muscular dystrophy, then has found " excellent counterpart " .

" excellent counterpart " Website establish on 2004, the intersection of founder and the intersection of cloud and peak Li, the intersection of network and the intersection of name and pale clothing, it was DMD patient. The society thoughtsing on disease causes is isolated, Li YunFeng has set up this forum, for the ward mates similar to the situation to exchange.

Hope?

In the world, direct against the treatment of this kind of disease still in exploration at present.

On March 29, 2006, the boy 8 years old Andrew became the first DMD patient who accepts gene therapy in U.S.A.. That day, one with truncated to resist, wither the intersection of albumen and preparation that gene mix inject enter the an arm of child by genetic carrier, another arm injects placeboes.

This is that a relatively famous treatment to DMD was tried recently.

In the eighties of last century, researchers locked the pathogenic gene of muscular dystrophy - -Responsible for producing the gene against amyotrophy albumen - -Usually, the patient, because of mutation take place in some points of this gene on X chromosome, can't produce the normal resisting the amyotrophy albumen and having disease of function. In 1987, the gene correlated with resisting the amyotrophy albumen had already cloned.

Resist amyotrophy albumen gene therapy to hope, take one carrier, can encode, resist the intersection of amyotrophy and genetic chromosome, patient of reinsertion, of albumen correctly, thus radically treat this kind of disease. But this gene is really too big, it is nearly the largest gene that people find at present, array number up to 2. 4M, the size is about several hundred times of the general gene, it is 1 of X chromosome length. 5%, general carriers can not be lifted at all.

The intersection of university and the intersection of gene therapy and Samulski and the intersection of U.S.A. and rolls of the intersection of university and human genetic of Chinese origin scientist, Professor of rescue center, fort of Sri Lankan, director of research center, North Carolina of U.S.A., resemble the intersection of whistle and cooperation An experiment group develops miniature edition with intact function and resists and shrinks albumens. 1996, to encode gene, insert the intersection of DMD and the intersection of experiment and mouse's experiment in, succeed miniature editions of albumen: In only one month after treating with gene therapy, it has spirit very much that the ill mouse makes, can jump to the mouse and envelope the edge and spread one's own body in a flexible way. Through nearly 10 years, FDA has sanctioned that clinical experiment on Andrew. Inject on Andrew, but the code gene of this miniature edition of albumens.

Pass by over two o'clock, will it be January 5 2009, the intersection of whistle and Professor Xiao own laboratory of the university tell reporter by telephone in North Carolina: The experiment has not been over yet at present, can't announce any experimental result at this moment according to the stipulations of FDA. It is mainly medicine security as an experiment, " to pay close attention to now, it is not the curative effect. " This clinical trial has selected 9 patients as the sample, up till now, and several samples have not got the result.

According to the introduction of expert, the medicine walking in FDA procedure farthest is the favor MYO- 029 of the company. In 2005, MYO- 029 entered the clinical trial stage of stage. According to MYO- 029 / stage experimental result just announced in May of 2008, in the therapeutic case of the high dosage, the patient's muscle quality and diameters of muscle fibre have increased certainly, but not prominent. The comment published with experimental result and periodical thinks highly of security of MYO-029, but consider curative effect is not prominent, this kind of medicine will enter one to test stage, there is not a final conclusion yet at present.

Ignored " Orphan's disease "

In fact, it is not the fatherless case as muscular dystrophy. According to Unite States Standard, muscular dystrophy, this kind of morbidity, is lower than 5/10000 of the diseases, defined as " Orphan's disease " ,Kinds of Diseases listed on the list of orphan's disease exceed 5000 kinds. In the list, bag fiber and muscular dystrophy have the most serious impact on minor.

Though probability happens non- high, the trouble that these rare diseases bring to patient and their family is vivid. Because the rare disease patient's regular meeting ran into the neglect of other people and not understood. In addition, much doctor understanding of these rare diseases is very limited too, it is very difficult to result in making a definite diagnosis of, patient's usually need can be made a definite diagnosis of several years. In order to submit to people's concern about this kind of disease, European Union fixes February 29 of 2008 for the first " rare disease day of Europe " .

In terms of therapeutic method, there are usually few treatments of orphan's disease, even does not have, but it is very difficult for relevant medicines to research and develop. On one hand, because it is fewer in number to have illness coming on, there are few economic incomes that the relevant research results bring, compared with common disease, " orphan's disease " Usually in one position which medical enterprises ignore. On the other hand, because patient number little, distribute, disperse relatively at the geography, large-scale clinical trial cost high usually, it is even unable to go on.

In order to stimulate the enthusiasm of scientific research institution and medical enterprise, in 1983, U.S.A. passed " orphan's disease medicine bill " ( TheOrphanDrugAct) ,Have set up specialized agency to encourage " Orphan's disease " The relevant medicine is researched and developed, certain tax revenue is amazing that offer to the relevant clinical trial, and offer the power of sale of exclusive market in 7 years. Hereafter, by 2002, FDA had already sanctioned 200 multi-type to specially direct against " orphan's disease " New medicine list. Japan and Australia has researched and developed and taken the above-mentioned measure to the medicine of orphan's disease. There is no tax revenue to stimulate in the relevant incentive measure of European Union, has but offered the persons who research and develop the power of sale of exclusive market for 10 years.

At present, China has not specially directed against this kind of rare disease patient's special measure yet.

To " muscular dystrophy " This kind of disease, a doctor of Peking Union Medical College Hospital says: To such a disease, coordinate and usually make a definite diagnosis of without treating, because there is not a infallible effective treatment yet at present, "certainly, this is that a patient is good too: Money to matter curative effect, can spend little " .

(scientific squirrel will also contribute this text)

" Freeze people gradually " Story