My name is Patricia. I’m from Brazil, and Sophia’s mother, carrier of MMIHS. Before Sophia was born, in 2011, I had another child; a boy that carried the same syndrome. He was born premature, and died 29 days after he was born. In the fifth month of Sophia’s pregnancy, I discovered that Sophia had a problem in her bladder, that is called Megabladder, and after Sophia was born, she was diagnosed with MMHIS.
In Brazil, there is no treatment for this syndrome and no multivisceral transplant has ever been done here. I researched and discovered that the Jackson Memorial Hospital in Miami, Florida could do the multivisceral transplant with a survival rate above 90%, and they were the number one worldwide. I started fundraising on Facebook to get Sophia to Miami, and it wasn’t an easy battle to achieve. I had to fight a battle with the Brazilian government through the justice system to give Sophia the right to get her treatment in Miami.
Sophia waited 9 months for her donor, and while she was waiting, she was totally dependent of parenteral nutrition. Sophia did the transplant of 6 organs at the same time – stomach, liver, small intestine, large intestine, pancreas, and duodenum. The transplant was a success. After 2 months, Sophia was already a healthy child at home and learning to eat everything.
4 months after the transplant, Sophia got a virus called CMV (Cytomegalovirus) that weakened her and she suffered a lot and she became very sick, but her transplanted organs stayed healthy. On the other hand, her lungs were compromised, and she never had problems with her lungs before. This virus took my daughter’s life after the so expected transplant was done and had won the battle with the syndrome – MMIHS.
They don’t know yet what is the gene that causes this syndrome, and the one my Sophia had was unique and an unknown kind according with the doctors at Jackson Memorial hospital.
Today I live with the pain of missing my little doll, and she is gone not because of the MMIHS but for another health problem.
Sophia’s Story (Portuguese)
Meu nome é Patricia sou do Brasil e Mãe de Sophia, portadora de MMIHS. Antes de Sophia tive um menino em 2011 portador também de MMIHS,nasceu prematuro e viveu 29 dias após o parto. No quinto mês de gestação descobri que Sophia tinha um problema na bexiga,chamado então de megabexiga,após o nascimento foi diagnosticada com MMHIS.
No Brasil não existe nenhum tipo de tratamento,ou seja, o transplante multivisceral para esta síndrome.
Descobri que o hospital Jackson memorial em Miami faziam este tipo de transplante com uma estimativa de vida acima de 90% por transplante e que era o número 1 no mundo neste tipo de transplante, com sucesso. Comecei uma campanha no Facebook para arrecadar fundo e poder levar minha Sophia até Miami, uma batalha nada fácil de conseguir, depois de uma grande ação judicial conseguimos levar Sophia ao Jackson memorial hospital pelo a justiça brasileira.
Sophia esperou 9 meses pelo o seu doador, nesse tempo de espera vivia totalmente com a nutrição parenteral.
Sophia fez o transplante de 6 órgãos de uma única vez, estômago, fígado,intestino delgado,intestino grosso,pâncreas e duodeno. E foi um sucesso,após dois meses Sophia já estava como uma criança completamente saudável,em casa,aprendendo comer tudo.
Após 4 meses pôs transplante Sophia contraiu um vírus CMV,que judiou muito dela,deixando-a muito doente,mas seus órgãos continuavam perfeitos. Menos os pulmões,órgão este que ela nunca tinha tido problemas, o vírus tirou a vida de minha filha após ela ter vencido a síndrome e o tão grande e esperando transplante.
Ainda não sabemos qual o gene causador da síndrome MMIHS, no Jackson estão pesquisando sobre, pois o gene causador do MMIHS na minha Sophia é desconhecido, diferente dos que já foram descoberto, levando então ela ser a única no mundo do segundo os especialistas geneticista do Jackson Memorial.
Hoje vivo com a dor da saudade,de minha bonequinha. Que se foi por algo que não tinha nada ave com a síndrome MMIHS.