HCU Network Australia
Our priorities are to:
- Connect and support people impacted by homocystinuria;
- Improve the diagnosis path to enable appropriate treatment;
- Provide education and information to people impacted by homocystinuria;
- Encourage and support clinical research, research for novel therapies and ultimately a cure; and
- Raise funds to achieve our objectives.
HCU Network Australia is governed by an Executive Committee. We are registered and classified as a Health Promotion Charity by the Australian Government. We are also endorsed with Deductible Gift Recipient (DGR) status by the Australian Taxation Office.
The executive committee
Tara Morrison is a lawyer and has been in private practice for over 10 years. She holds a double degree in Law and Arts (Psych). Tara is the founder and President of the HCU (Homocystinuria) Network Australia and is passionate about uniting the HCU community, increasing awareness and raising funds to achieve meaningful progress for the disease. She is married and has a beautiful daughter and two tremendous sons both affected by Homocystinuria and neither detected by Newborn Screening.
Paula Clark is a communications professional who specialises in design and writing. She is also an entrepreneur with a keen interest in innovation and is a founder and director of an electronic medication management company. She is married with two lovely girls. Paula is Vice President of the HCU (Homocystinuria) Network Australia.
Ranisha Clarke is a Project Director for a global property business and has spent the last 11 years managing the delivery of large master planned residential communities in Australia. Ranisha is a qualified CPA and licensed real estate agent. She is passionate about supporting the local community and is excited to be working with HCU (Homocystinuria) Network Australia, to raise awareness and funding to achieve real outcomes for the effective management and research of the disease. Ranisha is married and has 3 beautiful children.
Sue Ballesty is a Marketing Manager for a residential property developer who specialises in launching large scale residential projects. Previously Sue spent 15 years in shopping centre management focussing on retail marketing. She has three young girls and is passionate about increasing awareness and support for little-known conditions in Australia. Sue is proud to be associated with the HCU Network.
Kristin Bell is a Project Manager for a global pharmaceutical company and has an extensive career background within the industry. Having managed the oversight of many projects throughout her career, Kristin brings numerous valuable skills to her position on the HCU Network Australia Board. She is ardent about supporting initiatives to improve health outcomes and wellbeing of HCU patients. Kristin is married with two gorgeous children and resides in Sydney, NSW.
We are pleased to be collaborating with the following organisations:
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 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!
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).
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!
Mission & Vision
This overarching vision statement informs the direction of HCU Network, inspiring and motivating all who are involved with its activities undertaken to unite the HCU community, achieve actual awareness, seeking improved treatment options and related outcomes, improved diagnostic methods and supporting and encouraging research for a cure.
Dr Kaustuv Bhattacharya
Dr Kaustuv Bhattacharya is a paediatrician trained in the United Kingdom. His metabolic training was in London at Great Ormond Street Hospital for Children.
Having completed a fellowship in metabolic medicine and newborn screening in Sydney, he completed clinical research in glycogen storage diseases with the late Dr. Philip Lee and obtained a research MD in clinical nutrition for this work from the University of London. His work also led to a new carbohydrate therapy for glycogen storage disease being developed and marketed.
The Charles Dent Metabolic Unit, at The National Hospital for Neurology and Neurosurgery London is a large adult clinical metabolic service and Dr Bhattacharya was involved in the management of the 1500 adults in this clinic. He moved to Sydney, Australia in June 2008, where he is now practicing as a specialist paediatric metabolic physician.
He is continuing clinical research projects in several inborn errors of metabolism, allied to the NSW newborn screening programme and is the principal investigator for 2 clinical trials. He has published over 20 papers in peer-review journals and continues to collaborate widely with various centres across the world. In Australasia he is known for his inclusive approach to engagement with peers.
He is a committee member of the International Congress of Inborn Errors of metabolism scientific programme committee for Rio de Janeiro in 2017 and successfully led the bid for the same meeting to be hosted in Sydney in 2021, for which he will be chair of the local organising committee.
Dr Andrew Morris
Dr Andrew Morris is a Consultant and Senior Lecturer in Paediatric Metabolic Medicine. He works on the Willink Metabolic Unit, which is part of Genomic Medicine in the Central Manchester University Hospitals. This unit has 6 consultant metabolic paediatricians and provides a service to the North of England through a clinical network.
Dr Morris has been a consultant since 1996 first in Newcastle-upon-Tyne and then at Great Ormond Street Hospital in London, before moving to Manchester in 2003. He has extensive experience of inborn errors of metabolism in children and some experience with adults. His research has primarily concerned the diagnosis and management of mitochondrial disorders and fatty acid oxidation defects. He has considerable experience of managing patients with classical homocystinuria and remethylation disorders.
He is on the Steering Group for E-HOD, the European Network and Registry for Homocysinurias and Methylation Defects; he is Leader of the Classical Homocystinuria Guidelines Group and the Work Group on Evaluation of the Project.
Professor Bridget Wilcken
Professor Bridget Wilcken has spent her professional life in the diagnosis and clinical care of individuals affected by metabolic disorders, and also has had extensive research interests in this area, in particular in homocystinuria. She is internationally recognized both for her contributions to the inborn errors field and to newborn screening.
Her early research interests saw her focus on homocystinuria and the clinical features and diagnosis of this in Australia. She was prominent in the introduction of betaine as a treatment in pyridoxine-non-responsive cases of homocystinuria. It is without a doubt that her research outcomes have resulted in an improvement in the quality of life of individuals affected by the disease.
Professor Wilcken is a founding member of the Australasian Society for Inborn Errors of Metabolism, contributed substantially to the founding and organisation of the International Society for Neonatal Screening, has served on committees of professional organisations, authored numerous publications and several book chapters and given invited presentations both on metabolic diseases and newborn screening worldwide. She has a university appointment as Clinical Professor in the Discipline of Paediatrics, University of Sydney and was Clinical Director of the New South Wales Biochemical Genetics and Newborn Screening Services at the Children’s Hospital at Westmead.
She graduated in medicine from Edinburgh in 1956 and worked in Edinburgh and London before coming to Sydney, Australia. She is former President of the Human Genetics Society of Australasia, the International Society for Neonatal Screening (ISNS), and the Australasian Society for Inborn Errors of Metabolism, and former chair of the Genetics Services Advisory Committee for New South Wales. In 2002 she was awarded the Order of Australia and in 2004 the Guthrie Medal of the ISNS for services to newborn screening.
Supporting the journey to a cure
To enquire about sponsorship and how to partner with us, please contact Tara Morrison
Current Projects in brief
Patient Identification Campaign & Homocystinuria Disease Patient Registry
Patient registries are crucial for finding cures for rare disease as populations are small and geographically dispersed. The purpose of the Homocystinuria Disease Patient Registry is to organise and quantify the Homocystinuria community.
The registry will serve two purposes. At first instance, to unite the HCU community and provide a support network for affected individuals and families. A support network can alleviate some of the stress associated with both the diagnosis of HCU, and living with the disease. Secondly, the registry will provide the data to advance medical research for HCU and improve therapeutic development and quality of life for those living with HCU.
HCU Community Research
To compile a survey for both patients and relevant health professionals to obtain a complete perspective on the current state of treatments, compliance and reasons for non compliance, and research into HCU.
It is anticipated that the survey results will support the proposed need for reform in the funding of treatment, diagnostic methods and research. The survey will be used specifically to identify issues within the current system and support any future funding submissions. It will also be used to guide our organisation as to how we can best support affected individuals and families.
Smartphone App Development
We are working in collaboration with AccuGo for the development of an iPhone App to assist with the management and tracking of the low protein diet. AccuGo was initially designed to ease the day to day management of the PKU diet by providing a quick and easy was to track foods eaten.
AccuGo for HCU a service provided by HCU Network Australia will have the following features specifically for HCU management:
- Protein and methionine mode of tracking;
- Overview of day’s running total of protein/methionine at a glance;
- Historical graph showing totals over the past month;
- Automatic calculation of protein/methionine;
- Includes preloaded and searchable USDA based food items;
- Add own foods and values to the database;
- Community food list;
- Email daily food records by date range including a summary of average over the date range.
Research Grants & Travel Fellowships
It is our aim to encourage and support research into the disease including the translation of this research into the the clinical setting with the ultimate goal of improving therapeutic treatments.
Funding will be provided by way of research grants for new research projects aimed at improving the health and wellbeing of individuals affected by HCU. Annual awards for travel will also be awarded by way of travel fellowships to enable health care professionals to gain further knowledge in the area of HCU.
These opportunities will be dictated by fundraising capabilities.
YouTube “Question & Answer Time”
HCU Network Australia aims to launch a HCU Question & Answer Time on YouTube and also have these ‘interviews’ available to view on our website and distributed to newly diagnosed families. They are proposed to be a video series in which renowned metabolic specialists would answer the most commonly asked HCU questions in short videos.