{"id":4064,"date":"2019-11-20T00:48:42","date_gmt":"2019-11-20T00:48:42","guid":{"rendered":"https:\/\/lpfch.org\/research-and-medicine-soar\/"},"modified":"2024-02-14T14:08:07","modified_gmt":"2024-02-14T14:08:07","slug":"research-and-medicine-soar","status":"publish","type":"post","link":"http:\/\/lpfch.org\/vi\/impact-stories\/research-and-medicine-soar\/","title":{"rendered":"Nghi\u00ean c\u1ee9u v\u00e0 Y h\u1ecdc t\u0103ng v\u1ecdt"},"content":{"rendered":"

Th\u1eadt ph\u00f9 h\u1ee3p khi t\u1ea7ng cao nh\u1ea5t c\u1ee7a B\u1ec7nh vi\u1ec7n Nhi \u0111\u1ed3ng Lucile Packard Stanford l\u1ea1i cung c\u1ea5p nh\u1eefng ph\u01b0\u01a1ng ph\u00e1p ch\u1eefa tr\u1ecb t\u01b0\u1edfng ch\u1eebng nh\u01b0 vi\u1ec3n v\u00f4ng ch\u1ec9 v\u00e0i n\u0103m tr\u01b0\u1edbc.<\/h2>\n

T\u1ea7ng n\u0103m m\u1edbi, s\u1ebd m\u1edf c\u1eeda v\u00e0o m\u00f9a \u0111\u00f4ng, l\u00e0 m\u1ed9t n\u01a1i tuy\u1ec7t v\u1eddi, nh\u1ed9n nh\u1ecbp nh\u1eefng b\u1ed9 \u00f3c th\u00f4ng minh k\u1ebft h\u1ee3p nghi\u00ean c\u1ee9u v\u00e0 ch\u0103m s\u00f3c b\u1ec7nh nh\u00e2n h\u1ea1ng nh\u1ea5t \u0111\u1ec3 \u0111\u1ecbnh ngh\u0129a l\u1ea1i nh\u1eefng \u0111i\u1ec1u c\u00f3 th\u1ec3 trong y h\u1ecdc v\u00e0\u2014quan tr\u1ecdng nh\u1ea5t\u2014\u0111\u1ec3 c\u1ee9u s\u1ed1ng tr\u1ebb em.<\/p>\n

T\u1ea7ng n\u0103m l\u00e0 n\u01a1i tr\u1ebb em b\u1ec7nh n\u1eb7ng \u0111\u1ebfn \u0111\u1ec3 \u0111\u01b0\u1ee3c ch\u0103m s\u00f3c v\u00e0 l\u00e0 n\u01a1i nh\u1eefng ti\u1ebfn b\u1ed9 \u0111\u1ed9t ph\u00e1 \u0111\u01b0\u1ee3c t\u1ea1o ra. N\u00f3i m\u1ed9t c\u00e1ch \u0111\u01a1n gi\u1ea3n, \u0111\u00f3 l\u00e0 n\u01a1i c\u00e1c gia \u0111\u00ecnh t\u00ecm \u0111\u1ebfn \u0111\u1ec3 t\u00ecm ki\u1ebfm hy v\u1ecdng. Th\u00f4ng th\u01b0\u1eddng, h\u1ecd \u0111\u00e3 th\u1eed m\u1ecdi li\u1ec7u ph\u00e1p hi\u1ec7n c\u00f3 v\u00e0 \u0111\u00e3 tr\u1ea3i qua n\u1ed7i \u0111au v\u00e0 c\u0103ng th\u1eb3ng khi nghe tin kh\u00f4ng c\u00f3 ph\u01b0\u01a1ng ph\u00e1p n\u00e0o hi\u1ec7u qu\u1ea3. H\u1ecd c\u1ea7n m\u1ed9t b\u01b0\u1edbc \u0111\u1ed9t ph\u00e1 y khoa, v\u00e0 \u0111\u00f3 ch\u00ednh x\u00e1c l\u00e0 nh\u1eefng g\u00ec t\u1ea7ng n\u0103m mang l\u1ea1i.<\/p>\n

L\u1ea5y Peter Hanson, 15 tu\u1ed5i l\u00e0m v\u00ed d\u1ee5. C\u1eadu thi\u1ebfu ni\u00ean th\u00f4ng minh, n\u0103ng \u0111\u1ed9ng n\u00e0y \u0111\u00e3 g\u1eb7p kh\u00f4ng \u00edt v\u1ea5n \u0111\u1ec1 s\u1ee9c kh\u1ecfe nghi\u00eam tr\u1ecdng, nh\u01b0ng c\u1eadu \u0111\u00e3 v\u01b0\u1ee3t qua t\u1ea5t c\u1ea3 - ngay c\u1ea3 nh\u1eefng tr\u01b0\u1eddng h\u1ee3p hi\u1ebfm g\u1eb7p - nh\u1edd B\u1ec7nh vi\u1ec7n Nhi Packard. N\u0103m 2 tu\u1ed5i, Peter \u0111\u00e3 \u0111\u01b0\u1ee3c gh\u00e9p tim, sau \u0111\u00f3 l\u00e0 nhi\u1ec5m tr\u00f9ng tai m\u00e3n t\u00ednh, g\u00e3y ch\u00e2n, vi\u00eam ph\u1ed5i t\u00e1i ph\u00e1t nhi\u1ec1u l\u1ea7n, v\u00e0 ch\u1ee9ng lo\u1ea1n \u0111\u1ed9ng l\u00f4ng mao kh\u00f3 hi\u1ec3u, m\u1ed9t t\u00ecnh tr\u1ea1ng khi\u1ebfn c\u00e1c t\u1ebf b\u00e0o l\u00f4ng mao trong ph\u1ed5i kh\u00f4ng ho\u1ea1t \u0111\u1ed9ng b\u00ecnh th\u01b0\u1eddng.<\/p>\n

Sau \u0111\u00f3, khi l\u00ean 8 tu\u1ed5i, c\u1eadu b\u00e9 m\u1eafc b\u1ec7nh u lympho t\u1ebf b\u00e0o T angioimmuno, m\u1ed9t lo\u1ea1i ung th\u01b0 \u00edt \u0111\u01b0\u1ee3c bi\u1ebft \u0111\u1ebfn v\u00e0 ch\u01b0a t\u1eebng th\u1ea5y \u1edf tr\u1ebb em.<\/p>\n

\u201cTr\u01b0\u1eddng h\u1ee3p n\u00e0y hi\u1ebfm \u0111\u1ebfn m\u1ee9c g\u1ea7n nh\u01b0 kh\u00f4ng c\u00f3 d\u1eef li\u1ec7u n\u00e0o v\u1ec1 n\u00f3. Ch\u00fang t\u00f4i c\u1ea3m th\u1ea5y may m\u1eafn khi \u0111\u01b0\u1ee3c s\u1ed1ng g\u1ea7n nh\u1eefng b\u00e1c s\u0129 \u0111\u1eb3ng c\u1ea5p th\u1ebf gi\u1edbi, nh\u1eefng ng\u01b0\u1eddi c\u00f3 th\u1ec3 x\u1eed l\u00fd c\u00e1c v\u1ea5n \u0111\u1ec1 y t\u1ebf ph\u1ee9c t\u1ea1p c\u1ee7a Peter\u201d, Katharine Hanson, m\u1eb9 c\u1ee7a Peter, chia s\u1ebb.<\/p>\n

C\u1ea5y gh\u00e9p b\u1ea5t ch\u1ea5p m\u1ecdi kh\u00f3 kh\u0103n<\/h3>\n

C\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb ung th\u01b0 ti\u00eau chu\u1ea9n kh\u00f4ng c\u00f3 t\u00e1c d\u1ee5ng v\u1edbi b\u1ec7nh u lympho c\u1ee7a Peter n\u00ean \u00f4ng \u0111\u01b0\u1ee3c gi\u1edbi thi\u1ec7u \u0111\u1ebfn b\u00e1c s\u0129 Kenneth Weinberg. Anne T. v\u00e0 Robert M. Bass Gi\u00e1o s\u01b0 v\u1ec1 B\u1ec7nh m\u00e1u Nhi khoa<\/em>V\u00ec tr\u01b0\u1eddng h\u1ee3p c\u1ee7a Peter v\u00f4 c\u00f9ng ph\u1ee9c t\u1ea1p, Weinberg ngh\u0129 r\u1eb1ng Ti\u1ebfn s\u0129, B\u00e1c s\u0129 Alice Bertaina, ng\u01b0\u1eddi \u0111ang ph\u00e1t tri\u1ec3n m\u1ed9t chi\u1ebfn l\u01b0\u1ee3c mang t\u00ednh c\u00e1ch m\u1ea1ng nh\u1eb1m t\u1ea1o ra t\u1ebf b\u00e0o g\u1ed1c t\u01b0\u01a1ng th\u00edch t\u1eeb ng\u01b0\u1eddi hi\u1ebfn t\u1eb7ng cho nh\u1eefng b\u1ec7nh nh\u00e2n kh\u00f4ng c\u00f3 \u0111\u1ee7 t\u1ebf b\u00e0o g\u1ed1c t\u01b0\u01a1ng th\u00edch, c\u00f3 th\u1ec3 gi\u00fap \u00edch. Bertaina \u0111ang c\u1ea3i ti\u1ebfn m\u1ed9t h\u00ecnh th\u1ee9c gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c, \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c \u0111\u1ed3ng h\u1ee3p \u0111\u01a1n b\u1ed9i. Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y \u0111\u1eb7c bi\u1ec7t \u1edf ch\u1ed7 cho ph\u00e9p c\u00e1c b\u00e1c s\u0129 s\u1eed d\u1ee5ng t\u1ebf b\u00e0o t\u1eeb m\u1ed9t ng\u01b0\u1eddi th\u00e2n c\u00f3 m\u1ed9t ph\u1ea7n t\u01b0\u01a1ng th\u00edch. \u0110\u1ed1i v\u1edbi Peter, \u0111\u00f3 ch\u00ednh l\u00e0 m\u1eb9 c\u1ee7a c\u1eadu b\u00e9.<\/p>\n

\u201cNgay t\u1eeb ph\u00fat \u0111\u1ea7u g\u1eb7p B\u00e1c s\u0129 Bertaina, ch\u00fang t\u00f4i \u0111\u00e3 \u0111\u1eb7t tr\u1ecdn ni\u1ec1m tin v\u00e0o c\u00f4 \u1ea5y\u2014c\u00f4 \u1ea5y r\u1ea5t th\u00f4ng minh v\u00e0 v\u00f4 c\u00f9ng t\u1ed1t b\u1ee5ng. S\u1ef1 tr\u00f9ng h\u1ee3p n\u00e0y c\u00f3 th\u1ec3 hi\u1ebfm g\u1eb7p, nh\u01b0ng ch\u00fang t\u00f4i \u0111\u00e3 t\u00ecm th\u1ea5y \u1edf nhi\u1ec1u b\u00e1c s\u0129 t\u1ea1i B\u1ec7nh vi\u1ec7n Nhi Packard,\u201d Katharine n\u00f3i. \u201cCh\u1ed3ng t\u00f4i, Charles, v\u00e0 t\u00f4i g\u1ea7n nh\u01b0 \u0111\u00e3 tung \u0111\u1ed3ng xu \u0111\u1ec3 xem ai s\u1ebd l\u00e0 ng\u01b0\u1eddi hi\u1ebfn t\u1eb7ng. Vi\u1ec7c hi\u1ebfn t\u1eb7ng th\u1ef1c s\u1ef1 kh\u00f4ng kh\u00f3 \u0111\u1ebfn v\u1eady.\u201d<\/p>\n

Tr\u1ebb em c\u00f3 th\u1ec3 ph\u1ea3i ch\u1edd r\u1ea5t l\u00e2u m\u1edbi t\u00ecm \u0111\u01b0\u1ee3c ng\u01b0\u1eddi hi\u1ebfn t\u1eb7ng ph\u00f9 h\u1ee3p, \u0111\u00f4i khi c\u00f2n kh\u00f4ng \u0111\u1ee7 th\u1eddi gian. Gh\u00e9p t\u1ea1ng \u0111\u1ed3ng h\u1ee3p t\u1eed gi\u00fap t\u0103ng s\u1ed1 l\u01b0\u1ee3ng tr\u1ebb em c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c gh\u00e9p t\u1ea1ng c\u1ee9u s\u1ed1ng.<\/p>\n

Trong c\u00e1c nghi\u00ean c\u1ee9u ban \u0111\u1ea7u, Bertaina \u0111\u00e3 ch\u1eefa kh\u1ecfi an to\u00e0n 90% tr\u1ebb em m\u1eafc c\u00e1c b\u1ec7nh l\u00e0nh t\u00ednh v\u00e0 g\u1ea7n 70% tr\u1ebb em m\u1eafc b\u1ec7nh b\u1ea1ch c\u1ea7u. C\u00f4 \u0111\u00e3 th\u1ef1c hi\u1ec7n gh\u00e9p t\u1ea1ng cho h\u01a1n 400 b\u1ec7nh nh\u00e2n b\u1eb1ng k\u1ef9 thu\u1eadt n\u00e0y trong c\u00e1c th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng. Ti\u1ebfp theo, c\u00f4 hy v\u1ecdng s\u1ebd \u0111i\u1ec1u ch\u1ec9nh quy tr\u00ecnh n\u00e0y \u0111\u1ec3 gi\u1ea3m thi\u1ec3u h\u01a1n n\u1eefa nguy c\u01a1 m\u1eafc b\u1ec7nh gh\u00e9p ch\u1ed1ng v\u1eadt ch\u1ee7 - m\u1ed9t t\u00ecnh tr\u1ea1ng trong \u0111\u00f3 t\u1ebf b\u00e0o c\u1ee7a ng\u01b0\u1eddi hi\u1ebfn t\u1eb7ng t\u1ea5n c\u00f4ng t\u1ebf b\u00e0o c\u1ee7a b\u1ec7nh nh\u00e2n. C\u00f4 c\u0169ng \u0111ang \u00e1p d\u1ee5ng m\u1ed9t ph\u01b0\u01a1ng ph\u00e1p m\u00e0 c\u00f4 g\u1ecdi l\u00e0 tinh vi \u0111\u1ec3 gi\u1ea3m nguy c\u01a1 nhi\u1ec5m tr\u00f9ng v\u00e0 t\u00e1i ph\u00e1t b\u1ec7nh b\u1ea1ch c\u1ea7u sau khi gh\u00e9p.<\/p>\n

Ca gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c c\u1ee7a Peter l\u00e0 m\u1ed9t th\u1eed th\u00e1ch \u0111\u1eb7c bi\u1ec7t \u0111\u1ed1i v\u1edbi Bertaina v\u00ec anh l\u00e0 m\u1ed9t trong s\u1ed1 \u00edt ng\u01b0\u1eddi tr\u00ean th\u1ebf gi\u1edbi \u0111\u01b0\u1ee3c gh\u00e9p tim \u0111\u1ec3 nh\u1eadn gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c. C\u00f4 ph\u1ea3i \u0111\u1ed1i m\u1eb7t v\u1edbi nguy c\u01a1 tim c\u1ee7a Peter \u0111\u00e0o th\u1ea3i t\u1ebf b\u00e0o g\u1ed1c m\u1edbi v\u00e0 ng\u1eebng ho\u1ea1t \u0111\u1ed9ng. \u0110\u00f3 l\u00e0 l\u00fd do t\u1ea1i sao h\u1ecd l\u1ea7n \u0111\u1ea7u ti\u00ean th\u1eed gh\u00e9p t\u1ef1 th\u00e2n b\u1eb1ng t\u1ebf b\u00e0o g\u1ed1c t\u1ea1o m\u00e1u c\u1ee7a ch\u00ednh Peter. Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y c\u00f3 v\u1ebb hi\u1ec7u qu\u1ea3 trong m\u1ed9t n\u0103m, r\u1ed3i th\u1ea5t b\u1ea1i. H\u1ecd ch\u1ec9 c\u00f2n m\u1ed9t l\u1ef1a ch\u1ecdn n\u1eefa\u2014gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c haplo-identical. \u0110\u1ec3 gi\u1ea3m thi\u1ec3u nguy c\u01a1 tim c\u1ee7a Peter \u0111\u00e0o th\u1ea3i, Bertaina \u0111\u00e3 lo\u1ea1i b\u1ecf t\u1ebf b\u00e0o T kh\u1ecfi m\u00e1u c\u1ee7a ng\u01b0\u1eddi hi\u1ebfn t\u1eb7ng\u2014ti\u00eau chu\u1ea9n cho gh\u00e9p haplo-identical\u2014v\u00e0 sau \u0111\u00f3 h\u1ee3p t\u00e1c v\u1edbi m\u1ed9t c\u00f4ng ty d\u01b0\u1ee3c ph\u1ea9m \u0111\u1ec3 ph\u00e1t tri\u1ec3n m\u1ed9t lo\u1ea1i thu\u1ed1c \u0111\u1eb7c bi\u1ec7t \u0111\u1ec3 v\u1ec1 c\u01a1 b\u1ea3n l\u00e0 ng\u1eebng gh\u00e9p n\u1ebfu c\u00f3 s\u1ef1 c\u1ed1 x\u1ea3y ra. May m\u1eafn thay, h\u1ecd \u0111\u00e3 kh\u00f4ng g\u1eb7p ph\u1ea3i s\u1ef1 c\u1ed1.<\/p>\n

\u201cGh\u00e9p t\u1ebf b\u00e0o g\u1ed1c l\u00e0 ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb t\u1ed1t nh\u1ea5t m\u00e0 ch\u00e1u t\u1eebng \u0111\u01b0\u1ee3c tr\u1ea3i nghi\u1ec7m. N\u00f3 gi\u00fap ch\u00e1u c\u1ea3m th\u1ea5y kh\u1ecfe m\u1ea1nh h\u1ea7u h\u1ebft th\u1eddi gian v\u00e0 tr\u1edf th\u00e0nh m\u1ed9t \u0111\u1ee9a tr\u1ebb b\u00ecnh th\u01b0\u1eddng,\u201d Katharine n\u00f3i.<\/p>\n

Ng\u00e0y nay, hai n\u0103m sau, Peter l\u00e0 m\u1ed9t h\u1ecdc sinh n\u0103m hai \u0111i\u1ec3n h\u00ecnh \u1edf tr\u01b0\u1eddng trung h\u1ecdc, th\u00edch ch\u01a1i tr\u00f2 ch\u01a1i \u0111i\u1ec7n t\u1eed v\u1edbi b\u1ea1n b\u00e8, t\u1eadp l\u00e1i xe trong b\u00e3i \u0111\u1eadu xe, h\u1ecdc h\u00e0nh xu\u1ea5t s\u1eafc v\u00e0 suy ngh\u0129 v\u1ec1 t\u01b0\u01a1ng lai. M\u00f9a h\u00e8 v\u1eeba qua, c\u1eadu \u0111\u00e3 tham gia tr\u1ea1i h\u00e8 EXPLO Medical Rounds t\u1ea1i \u0110\u1ea1i h\u1ecdc Wellesley, \u0111i\u1ec1u n\u00e0y \u0111\u00e3 c\u1ee7ng c\u1ed1 th\u00eam ni\u1ec1m \u0111am m\u00ea v\u1edbi ng\u00e0nh y c\u1ee7a c\u1eadu. C\u1eadu theo h\u1ecdc t\u1ea1i tr\u01b0\u1eddng Menlo \u1edf Atherton, n\u01a1i b\u1ed1 m\u1eb9 c\u1eadu l\u00e0 gi\u00e1o vi\u00ean d\u1ea1y l\u1ecbch s\u1eed.<\/p>\n

\u0110\u1ed1i v\u1edbi Peter, \u0111i\u1ec3m n\u1ed5i b\u1eadt c\u1ee7a ca gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c l\u00e0 anh kh\u00f4ng ph\u1ea3i \u0111\u1ebfn b\u1ec7nh vi\u1ec7n th\u01b0\u1eddng xuy\u00ean n\u1eefa, m\u1eb7c d\u00f9 anh r\u1ea5t bi\u1ebft \u01a1n s\u1ef1 ch\u0103m s\u00f3c tuy\u1ec7t v\u1eddi m\u00e0 m\u00ecnh nh\u1eadn \u0111\u01b0\u1ee3c.<\/p>\n

Peter chia s\u1ebb: \u201cKho\u1ea3nh kh\u1eafc tuy\u1ec7t v\u1eddi nh\u1ea5t trong th\u1eddi gian n\u1eb1m vi\u1ec7n gh\u00e9p t\u1ea1ng c\u1ee7a t\u00f4i l\u00e0 khi b\u1ea1n b\u00e8 v\u00e0 c\u00e1c c\u1ea7u th\u1ee7 c\u1ee7a \u0111\u1ed9i San Francisco 49ers \u0111\u1ebfn th\u0103m t\u00f4i\u201d.<\/p>\n

T\u1ea7ng n\u0103m m\u1edbi cung c\u1ea5p cho Bertaina v\u00e0 nh\u1eefng ng\u01b0\u1eddi kh\u00e1c kh\u00f4ng gian \u0111\u1ec3 t\u0103ng s\u1ed1 ca c\u1ea5y gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n\u2014c\u1ee9u \u0111\u01b0\u1ee3c nhi\u1ec1u tr\u1ebb em h\u01a1n n\u1eefa nh\u01b0 Peter.<\/p>\n

M\u1ed9t cu\u1ed9c s\u1ed1ng kh\u00f4ng c\u1ea7n truy\u1ec1n m\u00e1u<\/h3>\n

G\u1eb7p g\u1ee1 Miya Nguyen, 4 tu\u1ed5i, m\u1ed9t b\u00e9 g\u00e1i lanh l\u1ee3i sinh ra m\u1eafc b\u1ec7nh alpha thalassemia, m\u1ed9t ch\u1ee9ng r\u1ed1i lo\u1ea1n m\u00e1u di truy\u1ec1n hi\u1ebfm g\u1eb7p th\u01b0\u1eddng d\u1eabn \u0111\u1ebfn s\u1ea3y thai. B\u1ed1 m\u1eb9 em, Cindy v\u00e0 Tony, \u0111\u00e3 c\u00f3 hai con trai, nh\u01b0ng h\u1ecd th\u1ef1c s\u1ef1 mong mu\u1ed1n c\u00f3 th\u00eam \u0111\u1ee9a con th\u1ee9 ba. H\u1ecd \u0111\u00e3 c\u1ed1 g\u1eafng th\u1ee5 thai trong nhi\u1ec1u n\u0103m, nh\u01b0ng hai l\u1ea7n mang thai \u0111\u1ec1u th\u1ea5t b\u1ea1i do alpha thalassemia. Sau \u0111\u00f3, sau khi t\u1eeb b\u1ecf hy v\u1ecdng, Cindy \u0111\u00e3 mang thai Miya.<\/p>\n

Cindy l\u00e0m vi\u1ec7c v\u1edbi t\u01b0 c\u00e1ch l\u00e0 \u0111\u1ea1i di\u1ec7n d\u1ecbch v\u1ee5 b\u1ec7nh nh\u00e2n t\u1ea1i Qu\u1ef9 Y t\u1ebf Palo Alto (PAMF), c\u00f2n Tony l\u00e0 m\u1ed9t ng\u01b0 d\u00e2n \u0111\u00e1nh c\u00e1 bi\u1ec3n s\u00e2u. Trong th\u1eddi gian mang thai, Cindy \u0111\u00e3 g\u1eb7p m\u1ed9t chuy\u00ean gia y h\u1ecdc b\u00e0 m\u1eb9 v\u00e0 thai nhi m\u1eafc PAMF, ng\u01b0\u1eddi \u0111\u00e3 th\u1ef1c hi\u1ec7n c\u00e1c x\u00e9t nghi\u1ec7m v\u00e0 x\u00e1c nh\u1eadn Miya c\u0169ng m\u1eafc b\u1ec7nh thalassemia alpha, nh\u01b0ng \u0111\u1ed3ng th\u1eddi c\u0169ng n\u00f3i v\u1edbi Cindy v\u1ec1 ph\u01b0\u01a1ng ph\u00e1p truy\u1ec1n m\u00e1u trong t\u1eed cung ti\u00ean ti\u1ebfn c\u00f3 th\u1ec3 gi\u00fap em b\u00e9 \u0111\u1ee7 th\u00e1ng. Cindy \u0111\u00e3 \u0111\u01b0\u1ee3c truy\u1ec1n m\u00e1u nhi\u1ec1u l\u1ea7n v\u00e0 sinh Miya \u1edf tu\u1ea7n th\u1ee9 32.<\/p>\n

Ngay sau khi sinh, Miya \u0111\u01b0\u1ee3c chuy\u1ec3n \u0111\u1ebfn khoa ch\u0103m s\u00f3c \u0111\u1eb7c bi\u1ec7t s\u01a1 sinh c\u1ee7a B\u1ec7nh vi\u1ec7n Nhi Packard \u0111\u1ec3 h\u1ed7 tr\u1ee3 ph\u1ed5i, v\u00e0 b\u00e9 \u0111\u00e3 \u1edf l\u1ea1i \u0111\u00f3 m\u1ed9t th\u00e1ng. Sau khi xu\u1ea5t vi\u1ec7n, Miya th\u01b0\u1eddng xuy\u00ean quay l\u1ea1i \u0111\u1ec3 truy\u1ec1n m\u00e1u cho b\u1ec7nh thalassemia alpha c\u1ee7a m\u00ecnh. Ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb t\u1ed1t nh\u1ea5t cho h\u1ea7u h\u1ebft c\u00e1c tr\u01b0\u1eddng h\u1ee3p thalassemia l\u00e0 gh\u00e9p t\u1ee7y x\u01b0\u01a1ng - m\u1ed9t lo\u1ea1i gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c, trong \u0111\u00f3 t\u1ebf b\u00e0o m\u00e1u c\u1ee7a ng\u01b0\u1eddi hi\u1ebfn t\u1eb7ng \u0111\u01b0\u1ee3c l\u1ea5y t\u1eeb t\u1ee7y x\u01b0\u01a1ng thay v\u00ec t\u1eeb m\u00e1u. \u0110\u1ec3 \u0111\u01b0\u1ee3c gh\u00e9p, Miya c\u1ea7n ph\u1ea3i kh\u1ecfe m\u1ea1nh h\u01a1n tr\u01b0\u1edbc. Th\u1eddi \u0111i\u1ec3m \u0111\u00f3 \u0111\u1ebfn khi b\u00e9 \u0111\u01b0\u1ee3c 9 th\u00e1ng tu\u1ed5i. May m\u1eafn thay, anh trai c\u1ea3 c\u1ee7a Miya, Anthony, l\u00e0 ng\u01b0\u1eddi hi\u1ebfn t\u1eb7ng ho\u00e0n to\u00e0n ph\u00f9 h\u1ee3p.<\/p>\n

\u0110\u1ec3 chu\u1ea9n b\u1ecb cho ca gh\u00e9p, Miya \u0111\u00e3 \u0111\u01b0\u1ee3c h\u00f3a tr\u1ecb \u0111\u1ec3 t\u1ea1o ch\u1ed7 trong t\u1ee7y x\u01b0\u01a1ng cho c\u00e1c t\u1ebf b\u00e0o m\u1edbi v\u00e0 \u1ee9c ch\u1ebf h\u1ec7 mi\u1ec5n d\u1ecbch \u0111\u1ec3 ng\u0103n ng\u1eeba \u0111\u00e0o th\u1ea3i. Sau ca gh\u00e9p, c\u00f4 b\u00e9 \u0111\u00e3 \u1edf l\u1ea1i B\u1ec7nh vi\u1ec7n Nhi Packard v\u00e0i th\u00e1ng \u0111\u1ec3 ki\u1ec3m so\u00e1t c\u00e1c bi\u1ebfn ch\u1ee9ng sau gh\u00e9p.<\/p>\n

\u201cCh\u00fang t\u00f4i r\u1ea5t nh\u1eb9 nh\u00f5m khi ca gh\u00e9p t\u1ee7y x\u01b0\u01a1ng th\u00e0nh c\u00f4ng. Hi\u1ec7n t\u1ea1i, Miya \u0111\u00e3 ng\u1eebng d\u00f9ng thu\u1ed1c, v\u00e0 ch\u00fang t\u00f4i ch\u1ec9 t\u00e1i kh\u00e1m m\u1ed7i n\u0103m m\u1ed9t l\u1ea7n \u0111\u1ec3 \u0111\u1ea3m b\u1ea3o b\u1ec7nh kh\u00f4ng t\u00e1i ph\u00e1t. Cho \u0111\u1ebfn nay, kh\u00f4ng c\u00f3 d\u1ea5u hi\u1ec7u n\u00e0o c\u1ee7a b\u1ec7nh alpha thalassemia,\u201d Cindy n\u00f3i. \u201cT\u00f4i r\u1ea5t bi\u1ebft \u01a1n t\u1ea5t c\u1ea3 m\u1ecdi ng\u01b0\u1eddi \u1edf B\u1ec7nh vi\u1ec7n Nhi Packard \u0111\u00e3 gi\u00fap \u0111\u1ee1 ch\u00fang t\u00f4i. \u0110\u00e2y l\u00e0 n\u01a1i duy nh\u1ea5t ch\u00fang t\u00f4i c\u00f3 th\u1ec3 nh\u1eadn \u0111\u01b0\u1ee3c s\u1ef1 ch\u0103m s\u00f3c nh\u01b0 v\u1eady.\u201d<\/p>\n

C\u00f4 \u1ea5y m\u00f4 t\u1ea3 Miya l\u00e0 m\u1ed9t c\u00f4 g\u00e1i vui v\u1ebb, ho\u1ea1t b\u00e1t, th\u00edch m\u1eb7c \u0111\u1ed3 m\u00e0u h\u1ed3ng, th\u00edch ca h\u00e1t v\u00e0 nh\u1ea3y m\u00faa. Tuy nhi\u00ean, c\u00f4 \u1ea5y c\u0169ng c\u00f3 ch\u00fat n\u00e9t tomboy - c\u00f3 l\u1ebd l\u00e0 do di truy\u1ec1n t\u1eeb cha - v\u00ec c\u00f4 \u1ea5y c\u0169ng th\u00edch c\u00e2u c\u00e1.<\/p>\n

"Con b\u00e9 c\u00e2u \u0111\u01b0\u1ee3c c\u00e1 ngay l\u1ea7n \u0111\u1ea7u ti\u00ean. C\u00f3 l\u1ebd v\u00ec th\u1ebf m\u00e0 n\u00f3 th\u00edch c\u00e2u \u0111\u1ebfn v\u1eady," Cindy n\u00f3i. "V\u00e0 t\u00f4i c\u00f2n mua cho n\u00f3 m\u1ed9t chi\u1ebfc c\u1ea7n c\u00e2u c\u00f4ng ch\u00faa nh\u1ecf n\u1eefa."<\/p>\n

Ngo\u00e0i b\u1ec7nh thalassemia alpha, gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c c\u00f2n \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 \u0111i\u1ec1u tr\u1ecb c\u00e1c b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p kh\u00e1c, bao g\u1ed3m h\u1ed9i ch\u1ee9ng IPEX, suy gi\u1ea3m mi\u1ec5n d\u1ecbch k\u1ebft h\u1ee3p nghi\u00eam tr\u1ecdng - n\u1ed5i ti\u1ebfng v\u1edbi c\u00e2u chuy\u1ec7n "c\u1eadu b\u00e9 bong b\u00f3ng" - v\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n \u0111a h\u1ec7 th\u1ed1ng \u0111e d\u1ecda t\u00ednh m\u1ea1ng g\u1ecdi l\u00e0 lo\u1ea1n s\u1ea3n x\u01b0\u01a1ng mi\u1ec5n d\u1ecbch Schimke, c\u00f9ng nhi\u1ec1u b\u1ec7nh kh\u00e1c. Ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb n\u00e0y c\u00f3 ti\u1ec1m n\u0103ng \u1ee9ng d\u1ee5ng cho nhi\u1ec1u b\u1ec7nh kh\u00e1c n\u1eefa.<\/p>\n

T\u1ea7ng th\u1ee9 n\u0103m \u0111\u1ecbnh ngh\u0129a l\u1ea1i d\u1ecbch v\u1ee5 ch\u0103m s\u00f3c mang t\u00ednh c\u00e1ch m\u1ea1ng<\/h3>\n

T\u1ea7ng n\u0103m m\u1edbi l\u00e0 kh\u00f4ng gian d\u00e0nh ri\u00eang cho kh\u00e1m ph\u00e1. T\u1ea7ng n\u00e0y r\u1ed9ng 65.000 foot vu\u00f4ng (kho\u1ea3ng 6.200 m\u00e9t vu\u00f4ng) v\u1edbi 49 gi\u01b0\u1eddng b\u1ec7nh, gi\u00fap B\u1ec7nh vi\u1ec7n Nhi Packard \u0111i\u1ec1u tr\u1ecb cho g\u1ea7n g\u1ea5p \u0111\u00f4i s\u1ed1 tr\u1ebb em m\u1eafc b\u1ec7nh ung th\u01b0, b\u1ec7nh m\u00e1u v\u00e0 b\u1ec7nh di truy\u1ec1n m\u1ed7i n\u0103m. M\u1ed9t n\u1eeda - n\u1eb1m \u1edf t\u00f2a th\u00e1p ph\u00eda nam - cung c\u1ea5p c\u00e1c li\u1ec7u ph\u00e1p nghi\u00ean c\u1ee9u ti\u00ean ti\u1ebfn v\u00e0 ti\u00ean phong cho tr\u1ebb em \u0111ang \u0111\u01b0\u1ee3c gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c v\u00e0 li\u1ec7u ph\u00e1p gen, th\u01b0\u1eddng l\u00e0 trong c\u00e1c th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng v\u1edbi Trung t\u00e2m Y h\u1ecdc X\u00e1c \u0111\u1ecbnh v\u00e0 Ch\u1eefa tr\u1ecb.<\/p>\n

T\u1ea7ng n\u0103m c\u1ee7a t\u00f2a th\u00e1p ph\u00eda b\u1eafc l\u00e0 Trung t\u00e2m Bass ti\u00ean ti\u1ebfn v\u1ec1 Ung th\u01b0 v\u00e0 B\u1ec7nh m\u00e1u Tr\u1ebb em, n\u01a1i v\u1eadn d\u1ee5ng h\u00e0ng th\u1eadp k\u1ef7 kinh nghi\u1ec7m v\u00e0 c\u00f4ng ngh\u1ec7 m\u1edbi nh\u1ea5t \u0111\u1ec3 \u0111i\u1ec1u tr\u1ecb cho tr\u1ebb em m\u1eafc b\u1ec7nh ung th\u01b0 v\u00e0 c\u00e1c b\u1ec7nh m\u00e1u nh\u01b0 h\u1ed3ng c\u1ea7u h\u00ecnh li\u1ec1m, b\u1ec7nh m\u00e1u kh\u00f3 \u0111\u00f4ng, v.v. M\u1ed9t s\u1ed1 th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng s\u1eed d\u1ee5ng c\u00e1c li\u1ec7u ph\u00e1p \u0111i\u1ec1u tr\u1ecb ung th\u01b0 m\u1edbi nh\u1ea5t hi\u1ec7n \u0111ang \u0111\u01b0\u1ee3c ti\u1ebfn h\u00e0nh, v\u00e0 nhi\u1ec1u th\u1eed nghi\u1ec7m kh\u00e1c \u0111ang \u0111\u01b0\u1ee3c tri\u1ec3n khai.<\/p>\n

M\u1ed9t trong nh\u1eefng ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb \u0111\u1ea7y h\u1ee9a h\u1eb9n nh\u1ea5t hi\u1ec7n \u0111ang \u0111\u01b0\u1ee3c \u00e1p d\u1ee5ng t\u1ea1i t\u1ea7ng n\u0103m cho m\u1ed9t s\u1ed1 lo\u1ea1i ung th\u01b0 l\u00e0 li\u1ec7u ph\u00e1p mi\u1ec5n d\u1ecbch. Li\u1ec7u ph\u00e1p t\u1ebf b\u00e0o T th\u1ee5 th\u1ec3 kh\u00e1ng nguy\u00ean kh\u1ea3m (CAR) l\u00e0 m\u1ed9t lo\u1ea1i li\u1ec7u ph\u00e1p mi\u1ec5n d\u1ecbch s\u1eed d\u1ee5ng h\u1ec7 th\u1ed1ng mi\u1ec5n d\u1ecbch c\u1ee7a c\u01a1 th\u1ec3 \u0111\u1ec3 ch\u1ed1ng l\u1ea1i ung th\u01b0, gi\u00fap gi\u1ea3m nhu c\u1ea7u h\u00f3a tr\u1ecb v\u00e0 x\u1ea1 tr\u1ecb.<\/p>\n

C\u00e1c nh\u00e0 t\u00e0i tr\u1ee3 \u0111ang l\u00e0m cho vi\u1ec7c ch\u1eefa b\u1ec7nh tr\u1edf n\u00ean kh\u1ea3 thi<\/h3>\n

C\u00f4ng t\u00e1c nghi\u00ean c\u1ee9u c\u1ee9u s\u1ed1ng v\u00e0 ch\u0103m s\u00f3c t\u1eadn t\u00ecnh \u0111ang di\u1ec5n ra t\u1ea1i t\u1ea7ng n\u0103m v\u00e0 kh\u1eafp B\u1ec7nh vi\u1ec7n Nhi Packard s\u1ebd kh\u00f4ng th\u1ec3 th\u00e0nh c\u00f4ng n\u1ebfu kh\u00f4ng c\u00f3 s\u1ef1 h\u1ed7 tr\u1ee3 h\u00e0o ph\u00f3ng c\u1ee7a c\u1ed9ng \u0111\u1ed3ng. Ch\u00ednh c\u00e1c b\u1ea1n \u0111\u00e3 g\u00f3p ph\u1ea7n t\u1ea1o n\u00ean n\u01a1i tuy\u1ec7t v\u1eddi n\u00e0y.<\/p>\n

Khi b\u1ec7nh vi\u1ec7n m\u1edbi \u0111\u01b0\u1ee3c thi\u1ebft k\u1ebf, t\u1ea7ng n\u0103m l\u00e0 m\u1ed9t kh\u00f4ng gian tr\u1ed1ng \u0111\u01b0\u1ee3c d\u00e0nh ri\u00eang cho m\u1ed9t nhu c\u1ea7u t\u01b0\u01a1ng lai, c\u00f3 ph\u1ea7n m\u01a1 h\u1ed3. Nh\u01b0ng nhu c\u1ea7u \u0111\u00f3 nhanh ch\u00f3ng \u0111\u01b0\u1ee3c nh\u1eadn ra khi nh\u1eefng kh\u00e1m ph\u00e1 ch\u01b0a t\u1eebng c\u00f3 trong l\u0129nh v\u1ef1c c\u1ea5y gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c, li\u1ec7u ph\u00e1p mi\u1ec5n d\u1ecbch ung th\u01b0, li\u1ec7u ph\u00e1p gen v\u00e0 c\u00e1c th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng cho th\u1ea5y t\u01b0\u01a1ng lai c\u1ee7a y h\u1ecdc nhi khoa.<\/p>\n

C\u00e1c nh\u00e0 t\u00e0i tr\u1ee3 \u0111\u00e3 chung tay \u1ee7ng h\u1ed9 c\u00f4ng tr\u00ecnh \u0111\u00e1ng kinh ng\u1ea1c n\u00e0y, bi\u1ebfn \u0111i\u1ec1u t\u01b0\u1edfng ch\u1eebng nh\u01b0 kh\u00f4ng th\u1ec3 th\u00e0nh c\u00f3 th\u1ec3. Trong s\u1ed1 nh\u1eefng m\u00f3n qu\u00e0 n\u00e0y c\u00f3 kho\u1ea3n \u0111\u00f3ng g\u00f3p \u0111\u00e1ng k\u1ec3 t\u1eeb Qu\u1ef9 David v\u00e0 Lucile Packard \u0111\u1ec3 x\u00e2y d\u1ef1ng t\u1ea7ng n\u0103m. Nhi\u1ec1u ng\u01b0\u1eddi kh\u00e1c c\u0169ng tin t\u01b0\u1edfng v\u00e0o s\u1ee9c m\u1ea1nh v\u00e0 ti\u1ec1m n\u0103ng c\u1ee7a c\u00f4ng tr\u00ecnh n\u00e0y, bao g\u1ed3m c\u1ea3 nh\u1eefng ng\u01b0\u1eddi \u1ee7ng h\u1ed9 l\u00e2u n\u0103m Anne v\u00e0 Robert Bass.<\/p>\n

T\u1ea7ng n\u0103m l\u00e0 n\u01a1i c\u00e1c chuy\u00ean gia n\u1ed5i ti\u1ebfng th\u1ebf gi\u1edbi t\u1ee5 h\u1ecdp \u0111\u1ec3 mang \u0111\u1ebfn nh\u1eefng nghi\u00ean c\u1ee9u \u0111\u1ed9c \u0111\u00e1o v\u00e0 d\u1ecbch v\u1ee5 ch\u0103m s\u00f3c hi\u1ec7n \u0111\u1ea1i nh\u1eb1m mang \u0111\u1ebfn cho nh\u1eefng \u0111\u1ee9a tr\u1ebb nh\u01b0 Peter v\u00e0 Miya c\u01a1 h\u1ed9i t\u1ed1t nh\u1ea5t \u0111\u1ec3 c\u00f3 tu\u1ed5i th\u01a1 kh\u1ecfe m\u1ea1nh.<\/p>\n

B\u1ea7u tr\u1eddi l\u00e0 gi\u1edbi h\u1ea1n cho nh\u1eefng kh\u1ea3 n\u0103ng m\u00e0 n\u00f3 mang l\u1ea1i.<\/p>\n

Xem c\u00e1ch ch\u00fang t\u00f4i bi\u1ebfn \u0111i\u1ec1u kh\u00f4ng th\u1ec3 th\u00e0nh c\u00f3 th\u1ec3 t\u1ea1i supportLPCH.org\/5thFloor.<\/a><\/em><\/p>\n

B\u00e0i vi\u1ebft n\u00e0y ban \u0111\u1ea7u xu\u1ea5t hi\u1ec7n trong \u1ea5n b\u1ea3n M\u00f9a thu n\u0103m 2019 c\u1ee7a Tin t\u1ee9c tr\u1ebb em Packard.<\/a><\/em><\/p>","protected":false},"excerpt":{"rendered":"

Th\u1eadt ph\u00f9 h\u1ee3p khi t\u1ea7ng cao nh\u1ea5t c\u1ee7a B\u1ec7nh vi\u1ec7n Nhi \u0111\u1ed3ng Lucile Packard Stanford l\u1ea1i cung c\u1ea5p nh\u1eefng ph\u01b0\u01a1ng ph\u00e1p ch\u1eefa tr\u1ecb c\u00f3 v\u1ebb nh\u01b0 kh\u00f4ng t\u01b0\u1edfng ch\u1ec9 v\u00e0i n\u0103m tr\u01b0\u1edbc \u0111\u00e2y\u2026.<\/p>","protected":false},"author":17,"featured_media":4065,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[148,22],"class_list":["post-4064","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-in-the-news","category-patient-stories"],"acf":[],"yoast_head":"\nResearch and Medicine Soar - 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