China Daily (Canada) - - DEPTH -

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 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.”

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