Advisory Board for Chromosome 6 Research
Mother of a boy with a chromosome 6 deletion
and on behalf of the Chromosome 6 Facebook Group
Mother of two children with a balanced translocation
Information Officer at Unique
Families receiving a diagnosis of a rare chromosome disorder frequently experience severe distress. This distress is compounded by a lack of information. Written information including websites relieves anxiety and stress and can improve understanding and recall. At Unique (a foundation for people with a chromosome disorder) we have developed family-friendly information guides to more than 130 chromosome disorders in an attempt to fill this information gap. We consider initiatives such as the Chromosome 6 project as a much-needed and hugely valuable source of additional information and resources for these parents and the professionals who work with them.
The internet and social media can provide a powerful means for people with rare diseases to share information, and for researchers such as those conducting the Chromosome 6 project to gather larger numbers of participants for research projects. Bringing together all the information known about a particular chromosome disorder from the current disparate sources including the medical literature, databases and families, and collating it in a robust and accurate way into a freely-available, comprehensive portal would be of enormous benefit to families worldwide. It would also provide a means to drive further research into rare chromosome disorders and disease-causing genes.
Mother of a boy with XXYY-syndrome
Founder of the Chromosome Foundation
Editor of jij&iK magazine
When you are looking for information on rare chromosome disorders and rare diseases in general, it is difficult to find specific information. Often, people with a very rare genetic variant cannot be Googled. However, Google can become an important part of your personal search for unique information, but what is even more important is that this information should be correct and scientifically underpinned. In practice, this is not always the case.
A central point where information, medical professionals and Google searchers can meet – next to the necessity for such a website – would be very valuable for both patients and their parents.
In addition to providing professional guidance, a medical specialist can also seek advice from his/her network, but a parent can’t. I always compare it to buying a new computer but finding the manual is missing – the less you have to re-invent the wheel, the more time and energy you can spend on your child and family. As a parent you often know what your child needs, but you also need other people to recognize this, so that they can offer good, professional and individual guidance. As an organization representing the interests of parents and patients, we want to encourage research and hope that much more structural funding will become available for this work, so that this ‘hidden’ target group is given the care they so badly need.
Director Erfocentrum, Dutch information centre on genetic inheritance
It is important that people are aware of the role of genetic inheritance in illness and in health. Parents of a child with a chromosomal disorder realize this only too well in their daily lives. But the scientific knowledge on the consequences of chromosomal anomalies is still very limited.
At the same time, parents know a lot. This fantastic project will, for the first time, make use of the combined knowledge and experience of parents via social media. In this project, parents can support not only each other, but their knowledge and experience can also be used for improving the treatment of patients.
The Erfocentrum is therefore very pleased to be able to cooperate with this project, which can serve as an example for future compilations of knowledge on rare disorders, making use of social media and parents and patients.
Paediatrician, social pediatrics, UMCG, Groningen
Chromosomal anomalies, such as the mutations in chromosome 6, are an important cause of congenital problems and atypical development in children. Once the medical problems have been overcome, parents still have many questions and much uncertainty about their child’s development, behaviour, upbringing, and day care.
Knowing more about the consequences of chromosomal anomalies on the physical, intellectual and social functioning is important for providing the best possible guidance and treatment of these children. Both parents and healthcare professionals need more information, particularly on the specific chromosomal mutation found in their child or patient.
This research project means we can try to link various features to specific regions on chromosome 6. In addition, we hope to gain more insight into the functions of the many genes that lie on chromosome 6, both with respect to the child’s physical functioning and development, as well as his/her social and emotional functioning. Then we can direct early guidance towards these issues and possibly avoid unnecessary limitations or handicaps.
Mieke van Leeuwen
Strategy staff member at VG netwerken
When parents learn that their child has a rare chromosomal disorder, they want to know what this means. They start to search for information and the experiences of other parents. But both the information and the experiences are scarce. After such a diagnosis of rare disease, parents are very vulnerable. If little is known, you end up with more questions than answers. There are few examples and your child’s future is uncertain. What can you do? And who can tell you more?
What’s good about this project is that the parents of children with a very rare disorder can get in touch with each other worldwide, that their experiences will be recorded and collated, and that the knowledge about their child can be linked to what the doctors know. A joint effort by parents and doctors on this scale makes it possible to put a face on “rare”. It offers parents and children hope. They are less alone in their uncertainty. This means it fits fully with the aims of VG networks and it gives the association an international dimension. VG networks links parents and people with rare chromosome disorders who have an intellectual disability and/or learning problems.
Paediatrician - hereditary & congenital diseases, NVK, management EAA
As a paediatrician, specializing in children with congenital, hereditary or developmental problems, I observe in my daily work the difficult situation parents experience raising a child with a complex condition. Parents want the best treatment, support and guidance for their child, and as a paediatrician I try to help them with that and provide the best care available. In order to give the child and its parents this (medical) support, it is essential to obtain as much information as possible concerning his/her specific condition. Information is also very important for parents, and furthermore it helps them to have contact with other parents and share their experiences.
Nowadays information can be found not only in traditional media, but modern forms of information sharing, for example Google, Twitter, Facebook, databases, websites and weblogs, provide a whole new dimension of sharing information and collecting data. It opens new ways for medical doctors and researchers as well to get in contact with more patients and thereby develop new standards for medical care.The chromosome 6 project is very important because it gives insight not only on the specific genetic condition and about the functions of genes on chromosome 6, it also helps us as professionals to learn more about how the new media work and how to use them for our patients; it can provide a role model for other genetic research projects in the future
Nicole de Leeuw
Clinical Laboratory Geneticist, Radboud UMC, Nijmegen
Coordinator of ECARUCA ( www.ecaruca.net )
Finding a cause for a patient’s clinical condition is often not easy, because the clinical information and genetic information is not always clearly linked together. Reliable sources and databases do exist, but there is significant room for improvement to provide more and better information to parents of a child with a chromosome anomaly.
ECARUCA is a database which collects and provides (cyto)genetic and clinical information on rare chromosomal disorders, including microdeletions and microduplications. The ECARUCA team is very motivated to make this chromosome 6 research project a success. We hope to be able to contribute considerably by promoting and supporting this project in order to collect as much detailed clinical and chromosomal information as possible in an efficient and structured way. Parents have played an important role since the beginning of ECARUCA in 2003, but we are pleased that parents and professionals will be able to closely work together in this project to gain more information on chromosome 6 anomalies and to find better ways to share this information with each other.
Agnies van Eeghen
Specialist for patients with mental challenges
Chromosome 6 anomalies can lead to a range of learning problems and mental handicaps. Doctors for the mentally challenged provide care for children and adults with these and other rare, genetic disorders. At the moment, the development and life course of patients with a chromosome 6 anomalies are still difficult to predict. Nor do we know which disorders occur in individual patients per life phase or how these can best be treated.
With the help of an interactive website, information on the genetic disorders and symptoms of many patients can be compiled and compared. This means we can learn more about the course of their developmental, neurological and psychological problems and other physical problems which are associated with specific mutations in chromosome 6. This information will help parents and support ‘health watches’ (monitoring) by paediatricians, mental health and other medical specialists. It will aid the early discovery of morbidity associated with specific chromosome 6 anomalies and lead to treatment or even prevention.
This project can serve as a model for all rare congenital disorders. More knowledge about the genetic anomalies and their consequences will provide more information for patients and eventually more insight into the underlying disease process and the development of therapies.
Steven van Vooren
Cartagenia (genetic data services)
Ecaruca (database of cytogenetic and clinical information on rare chromosomal disorders)
jij&iK magazine (in Dutch, is een spraakmakende glossy, waarin op een prettig leesbare manier zeldzame aandoeningen en lifestyle met elkaar worden verbonden)
Erfocentrum (in Dutch, nationaal informatiecentrum erfelijkheid)
Unique (to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness)
VG netwerken (in Dutch, de Vereniging VGnetwerken verbindt ouders en mensen met zeldzame syndromen die samenhangen met een verstandelijke beperking en/of leermoeilijkheden)
Zeldzaam (website met informatie over zeldzame chromosoomafwijkingen, het oudernetwerk Zeldzaam en veel informatie)
Twitter: Volg @c6study op Twitter, https://twitter.com/c6study
|07 February 2020 2.00 p.m.