Fam­i­lies must strive to pro­vide best care, re­ha­bil­i­ta­tion at home

China Daily (USA) - - FRONT PAGE - By ZHOU WENTING in Shanghai zhouwent­ing@chi­

Zhou Mi, a 16-year-old from Shanghai, was wear­ing pants and long sleeves to cover the red blis­ters on her arms and legs. Both her cheeks also were blis­tered.

Sit­ting in a wheel­chair, she ap­peared much younger than she is. Zhou has Epi­der­mol­y­sis bul­losa, also called EB, the name for a group of rare ge­netic con­di­tions that re­sult in easy blis­ter­ing of the skin and mu­cous mem­branes in the eyes, mouth, esoph­a­gus and res­pi­ra­tory tract, and for which there is no cure.

The wounds of­ten be­come ul­cer­ated, the skin is re­peat­edly af­fected and pa­tients suf­fer life­long pain.

“But don’t shed any tears for her,” said Zhou Yingchun, the teen’s father, who spends hours once ev­ery two days clean­ing her blis­ters. “She gets the best fam­ily care of her fel­low pa­tients.”

Ac­cord­ing to doc­tors, be­fore medicines be­come avail­able to treat most pa­tients with rare dis­eases, their fam­i­lies must pro­vide the best care they can and re­ha­bil­i­ta­tion at home so that the pa­tients can be suf­fi­ciently healthy to qual­ify for med­i­cal treat­ment when it does be­come avail­able.

“Even for pa­tients with rare dis­eases where ther­a­pies are avail­able, stan­dard fam­ily care is cru­cial to im­prov­ing their qual­ity of ev­ery­day life to the max­i­mum, post­pon­ing dis­ease de­vel­op­ment and ex­tend­ing life,” said Ding Jie, vice-chair­woman of the Ex­pert Com­mit­tee of Di­ag­no­sis, Treat­ment and Se­cu­rity of Rare Dis­eases with the Na­tional Health Com­mis­sion. Ding is also a pro­fes­sor of pe­di­atrics at Pek­ing Univer­sity First Hospi­tal.

China has about 25 mil­lion pa­tients with rare dis­eases, with 80 per­cent of these cases in­her­ited. About 30 per­cent of pa­tients do not live be­yond the age of 5.

Treat­ment is avail­able for only 6 per­cent of rare dis­eases, but most peo­ple can­not af­ford it, med­i­cal ex­perts said.

Zhou Yingchun said that al­though his daugh­ter wears pants and long-sleeved shirts ev­ery day, her skin fre­quently blis­ters. When­ever a blis­ter de­vel­ops, it must be punc­tured and the wound has to be ban­daged.

“The skin is like liq­uid, rather than be­ing solid,” said the father, who four years ago set up the Shanghai De­bra But­ter­fly Ba­bies Care Cen­ter, which now has more than 800 pa­tients from all over the coun­try with Epi­der­mol­y­sis bul­losa.

Zhou Yingchun said soft food must be pre­pared for his daugh­ter as the mu­cous mem­brane in her mouth is frag­ile. Be­cause of the tight­ened skin, pa­tients’ hands form fists. The aver­age life span for those with this dis­ease is around 40.

Velo Zou was born in Shanghai in Novem­ber 2014. He was di­ag­nosed with spinal mus­cu­lar at­ro­phy, also known as SMA, a ge­netic dis­or­der that af­fects mus­cle con­trol, and which af­flicts 30,000 to 50,000 peo­ple in China.

When Velo was 9 months old, doc­tors pre­dicted that he could live for as long as two years. About 95 per­cent of SMA pa­tients die 18 months af­ter birth.

Velo, which means “bi­cy­cle” in French, has a 6-year-old sis­ter, Giro, which means “cir­cle” in Ital­ian. Their father, Zou Cheng, is a cy­cling en­thu­si­ast.

Velo’s mother, Zhang Ying, said they pro­vide the best care at home for the boy, who can­not sit by him­self and has difficulty in cough­ing, hold­ing a pen and go­ing to the toi­let.

Res­pi­ra­tory dis­eases can be fa­tal for such chil­dren, as they can­not cough to clear their throats. Velo’s par­ents bought a ma­chine to help him cough that cost 40,000 yuan ($5,835). He also has a tai­lor-made wheel­chair and a stand­ing frame, which helps him to prac­tice stand­ing to avoid bone de­for­mity.

The pro­por­tion of SMA pa­tients who use such sup­port­ive devices is very low, said Wang Yi, a pe­di­atric neu­rol­o­gist at the Chil­dren’s Hospi­tal of Fu­dan Univer­sity in Shanghai.

Only 2 per­cent of these pa­tients use ma­chines to help them cough, and 34 per­cent have never re­ceived re­ha­bil­i­ta­tion train­ing, ac­cord­ing to a sur­vey this year of 821 di­ag­nosed pa­tients na­tion­wide, Wang said.

Velo’s mother cuts his food into small pieces to help him to swal­low it and uses medicine to help him go to the toi­let.

Velo and each mem­ber of his fam­ily is in­jected with in­fluenza vac­cine an­nu­ally to min­i­mize the chance of him be­com­ing in­fected with res­pi­ra­tory dis­eases.

Pa­tient com­mu­ni­ties

Pa­tient or­ga­ni­za­tions, or com­mu­ni­ties, are an­other ap­proach for those with rare dis­eases and their fam­i­lies to en­able them to gain a more pos­i­tive at­ti­tude and prac­ti­cal ex­pe­ri­ence to bet­ter live with such dis­eases and im­prove their qual­ity of life.

Newly di­ag­nosed pa­tients and their fam­i­lies can quickly ob­tain in­for­ma­tion on med­i­ca­tion, doc­tors and fam­ily care re­lated to the dis­ease af­ter join­ing these or­ga­ni­za­tions, said Kevin Huang Ru­fang, founder and di­rec­tor of the Chi­nese Or­ga­ni­za­tion for Rare Dis­or­ders. Huang said there are more than 80 such or­ga­ni­za­tions na­tion­wide.

Zhou Yingchun said he started to trans­late for­eign doc­u­ments about skin care for pa­tients with Epi­der­mol­y­sis

bul­losa in 2006, be­fore many doc­tors were fa­mil­iar with the dis­ease. The pa­tients also asked for dis­counts from phar­ma­ceu­ti­cal com­pa­nies for sur­gi­cal dress­ings to pro­tect their skin when it blis­tered, he said.

Doc­tors said they had wit­nessed the growth of pa­tient com­mu­ni­ties in re­cent years. The com­mu­ni­ties were ini­tially formed to ex­change ex­pe­ri­ences, but later took part in dis­cus­sions and international sem­i­nars with doc­tors and med­i­cal com­pa­nies. They also sought at­ten­tion and help from the me­dia, so­cial or­ga­ni­za­tions and gov­ern­ment de­part­ments, and fi­nally pro­moted the progress made in the treat­ment of rare dis­eases in China.

Li Wei, vice-pres­i­dent of med­i­cal af­fairs at Shanghai Roche Phar­ma­ceu­ti­cals, said, “The Phase II clin­i­cal trial of a medicine for SMA pa­tients by our com­pany started on the Chi­nese main­land in April, and the pa­tient com­mu­nity — the Mei’er Ad­vo­cacy and Sup­port Cen­ter for SMA — did a lot, in­clud­ing seek­ing enough par­tic­i­pants for the trial.”

Med­i­cal ex­perts said they re­garded the coun­try’s first rare dis­ease list, which con­tained 121 such dis­eases and was drawn up in May, as a mile­stone in this area.

Ding said: “The list in­cluded dis­eases for which ther­a­pies are avail­able in the coun­try and for treat­ments that are still be­ing de­vel­oped. It will cer­tainly ac­cel­er­ate work on the dis­eases and rel­e­vant ther­a­pies.”

Peter Fang, head of Asia Pa­cific and act­ing China gen­eral man­ager at Shire Phar­ma­ceu­ti­cal, a com­pany head­quar­tered in Ire­land that caters to pa­tients with rare dis­eases and spe­cial­ized con­di­tions, said: “With such guide­lines, there are op­por­tu­ni­ties to bring to China rare dis­ease ther­a­pies at the same time as the United States and Europe. In the past, Chi­nese pa­tients had to wait eight to 10 years af­ter a drug won ap­proval in the US.”

Li Ding­guo, a mem­ber of the Ex­pert Com­mit­tee of Di­ag­no­sis, Treat­ment and Se­cu­rity of Rare Dis­eases with the Na­tional Health Com­mis­sion, said only 15 of the 101 ther­a­pies for rare dis­eases pa­tients mar­keted in the US are avail­able on the main­land. Li is also an hon­orary pro­fes­sor with Xin Hua Hospi­tal Af­fil­i­ated to Shanghai Jiao Tong Univer­sity School of Medicine.

With such guide­lines, there are op­por­tu­ni­ties to bring to China rare dis­ease ther­a­pies at the same time as the United States and Europe.”

Peter Fang, head of Asia Pa­cific and act­ing China gen­eral man­ager at Shire Phar­ma­ceu­ti­cal


A per­former cheers up chil­dren with a rare skin dis­ease at an event in Shanghai last year.


A nurse ban­dages a girl named Meng­meng, who has a rare skin dis­ease, dur­ing a course in Shanghai.


From left: A girl named Tiantian from Zhe­jiang prov­ince signs her name on the mes­sage board at a meeting held last year by the Shanghai De­bra But­ter­fly Ba­bies Care Cen­ter; Velo Zou, who was born in Shanghai in 2014, has spinal mus­cu­lar at­ro­phy; Lin Zhimiao, a doc­tor at Pek­ing Univer­sity Third Hospi­tal, gives a young pa­tient free treat­ment.

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