Collaborating Partners

Collaborating Partners

world-connected

We are pleased to be collaborating with the following organisations:

The European Network and Registry for Homocystinurias and Methylation defects

The European Network and Registry for Homocystinurias and Methylation defects (E-HOD) is an international consortium of clinicians, scientists, dieticians, patient organisations and industry representatives with a focus on homocystinuria and (re)methylation defects.  It has three major activities:  Collecting longitudinal data into a registry; developing evidence-based consensus diagnostic and clinical care protocols; and evaluating different newborn screening programmes for HCU and producing a position paper.

HCU Network America

HCU Network America is a recognized US based 501(c)(3) non-profit organization dedicated to helping patients with Homocystinuria (HCU) and related disorders manage their disease and find a cure. We strive to create connections, provide educational resources, and drive research towards a cure!

cblC Onlus

The cblC Onlus, the Italian Association of Methylmalonic Acidemia with Omocystinuria cblC type, was set up in March 2017, at the initiative of some parents of children affected by such desease, with the purposeful intention to support scientific research and every initiative aimed at improving the quality of life of patients and their families.

The founders, coming from all over Italy, knew each other on the web, often the first shelter, after a first moment of suffering and shock, for those who come across a disease with a strange and complicated name for the first time. Day by day it will become more and more familiar and written several times into the search engines, hoping to find answers to questions that none of them ever imagined having to ask and to get in contact with people facing the same problems and fears.

In February 2013, after having met other parents and realized that she was not alone, a mother found the courage to create a virtual “family”: a group in which people involved in cblC problems could recognize themselves, share experiences and help each other as much as possible.

More or less at the same time, a trial of an experimental drug involving a large number of families from all over Italy was started at the “Bambino Gesù” child hospital in Rome: this event gave the chance to transform many virtual friendships into real ones.

In 2014 such “family” was so numerous that the idea of creating a specific association for the cblC began to take shape.

Such step, ambitious and too demanding for many, remained just a good intention for a while, until the wide participation to the first data collection project for statistical purposes within the group members rekindled hope and determination once again.

Some years later, in March 2017, thanks to the stubbornness of five families, the cblC Onlus was finally set up and is rapidly growing. In Italy several associations dealing with metabolic diseases already existed, but none with a specific focus on cblC, notwithstanding Italy represents one of the country with the highest number of cases.

We are still very young but we have in mind a lot of ideas and projects that we are willing to share with all the interested stakeholders, both in Italy and abroad, and very soon we are going to appoint the scientific committee that will have as referent Dr. Carlo Dionisi-Vici, Head of the Unit of Metabolic Disease at Bambino Gesù Children’s Research Hospital in Rome.

For further info and update, check out our web site www.cblc.it, currently only in Italian (English version to come shortly).

Associação Brasileira de Homocistinúria

Meu nome é Simone Arede sou Brasileira nascida no   Rio de Janeiro dona de casa e no decorrer do ano de 2006 descobri que meu filho de 19 anos na época tinha uma doença rara chamada “Homocistinuria”. Após este diagnos-   tico tudo começou a mudar na minha vida.

Descobrimos que ele não respondia a piridoxina (vitamina B6) e que teria que usar uma medicação muito cara e  fazer uma dieta com muita restrição e que se não fizesse o tratamento corretamente as consequências seriam xesastrosas. Então como Mãe eu tinha que ajudar meu filho a conseguir este tratamento foi quando descobri que a única opção seria entrar na justiça e apesar de ter ganho um processo judicial eu não conseguia as medicações com regularidade, foi quando conheci um promotor de defesa da saúde que me orientou a fundar uma Associação,para unirmos para sermos ouvidas   pressionando o governo a dar o tratamento adequado aos pacientes.

Sempre tive o prazer de conhecer as famílias pessoalmente para poder entender melhor as suas necessidades.

Para fundar a Associação teríamos que ter recursos financeiros a falta destes me obrigou a adiar a ideia durante um tempo, até que chegou um momento que resolvi com muito sacrifício custear com recursos próprios a formação da Associação Juridicamente.

Com muita determinação resolvi mapear quantitativamente e qualitificamente os pacientes.

Passei a frequentar os Congressos de Genética, movimentos de Doenças raras e pedir apoio político para a criação do Protocolo de Atendimento aos Pacientes.

Nesse meio tempo descobri que as taxas do meu filho só ficaram controladas quando uma amiga deu para ele alguns alimentos hipoproteicos que trouxe da Europa alimentos estes que não são fabricados no Brasil.

Foi quando percebi que também teria que lutar por estes alimentos para que os pacientes tivessem uma qualidade de vida melhor, então criei um Grupo chamado Mães Metabólicas para unir os pacientes de doenças metabólicas e buscar esses alimentos para o Brasil.

Eu espero e luto com todas as forças que no futuro tenhamos um protocolo de atendimento do Governo Brasileiro e que todos os pacientes do Brasil tenham acesso as Pesquisas para cura ou Tratamento para melhorar a sua Qualidade de Vida!