DEBRA-A Queensland
The Queensland branch of the Dystrophic Epidermolysis Research Association of Australia (DEBRA-A) is a support group that provides affected individuals and their families with information about the disorder as well as an avenue of communication for patients and relatives to share experiences.For further information, please contact:
DebRA-A Qld Secretary
P O Box 226
Pittsworth Q 4356
Ph (07) 46 937 247
Email: s.holley@bigpond.com
Dermatology Combined EB Clinic, Royal Children's Hospital, Brisbane
The Clinic hosted at the Royal Children's Hospital Outpatients Department is a ` consultative service for EB patients and their families. Medical specialists partaking in the EB clinic include: a Dermatologist, Paediatrician, Paediatric Dentist, Clinical Geneticist, Occupational Therapist, Physiotherapist, and Dietician.
For further information, please contact the clinic coordinator:
Jenny Berkman (Project Officer)
Queensland Clinical Genetics Service
Royal Children's Hospital
Herston QLD 4029
Ph: (07) 3636-1686
Fax: (07) 3636-1987
E-mail: TBA
Genetic Counselling
What is Genetic Counselling and How Can It Help?
Genetic Counselling is a medical discipline that offers families accurate information about genetic risks to their unborn babies and future children. Every couple faces some risk of having a child with a birth defect. For some couples the risk may be greater because of their age, their genes, family history or certain other factors. The main purposes of counselling are to help the family (or individual) to understand:
- the disorder in the family, how it is diagnosed, what the future holds and how to manage and treat the disorder.
- the risk of recurrence or how likely the disorder will happen again.
- the alternatives available to cope with the risks and/or the disorder.
- how to adjust to the disorder in the best possible way.
Counsellors can never guarantee the birth of a normal child, they can only provide an estimate of the risks and determine how test might help. The decision to have a child is always left to the parents and therefore both parents should be present for counselling.
Who Can Benefit From Genetic Counselling?
Many families who seek counselling already have a child or a relative (such as a cousin or uncle) with an identified genetic disorder. Others are at risk because of their age, or the population group to which they belong, or because they have married a relative. Families who benefit from counselling include those who have:
- an increased risk for disorders because of their ethnic background (eg Greek and Indian people have an increased risk for beta thalassaemia, and Jewish people for Tay Sachs disease)
- consanguinity (husband and wife are related eg. First cousins)
- exposure to drugs, alcohol, chemicals, infection or radiation during pregnancy
- the age of the woman (35 years and over)
- an abnormal result on a maternal serum screening test in a pregnant woman
- a history of birth defects such as cleft lip and palate, club foot, congenital heart disease and spina bifida
- known genetic disorders such as Epidermolysis Bullosa, muscular dystrophy, Down syndrome, haemophilia, cystic fibrosis, albinism, growth disorders, Fragile X syndrome, or metabolic disorders
- a history of intellectual disability, slow development and/or seizures
- a history of hearing or visual impairments
- history of infertility, multiple miscarriage, stillbirths or early infant deaths
What Does the Genetic Counselling Service Provide?
The Genetic counselling interview begins with a thorough investigation of the family history and construction of a family tree. The medical details of the affected members of the family are then reviewed so that the disorder can be diagnosed and traced through the family. This may require detailed medical tests, blood tests and physical examinations or reports. If medical tests are recommended the counsellor will explain the benefits and limitations.
Once the problem has been identified, the genetic counsellor can estimate the risks involved, discuss the medical and genetic aspects and inform the family of their options for the future.
The counsellor will also discuss the severity of the condition and whether it can be diagnosed during a pregnancy and/or treated after birth. The family can question the counsellor and then, being fully informed, plan their future without taking unnecessary risks. If they decide to proceed with a pregnancy they may request prenatal diagnosis which can be done for some genetic conditions by chorionic villus sampling (at 9 to 11 weeks), or by amniocentesis (collection and analysis of th4 amniotic fluid surrounding the baby in the uterus, preferably between 15 and 18 weeks) or by ultrasound (measurement of the size and shape of the fetus and assessment of fetal development).
Where Can I Go For Genetic Counselling?
Referrals to a clinic for genetic counselling should be made through a general practitioner or medical specialist. Patients should attend with an appropriate referral letter or report from their doctor.
In Queensland, genetic services are provided by the Queensland Clinical Genetics Service based at Herston, Brisbane. The Queensland Clinical Genetics Service also provides an outreach service, so you may be able to access genetic counselling in a nearby town. Please contact Q.C.G.S. for more details.
Queensland Clinical Genetics Service
Royal Children's Hospital and District Health Service
Herston QLD 4029
Tel: (07) 3636-1686
Fax: (07) 3636-1987
Maters Mothers Hospital - (07) 3840-1593
Cairns Base Hospital - (07) 4050-6247
Gold Coast Hospital - (07) 5571-8741
Toowoomba Base Hospital - (07) 4631-6995
Townsville General Hospital - (07) 4781-9970
Office hours: 8:30am to 5:00 pm
Clinics are also held in Bundaberg, Mackay, Rockhampton, Mt Isa and the Sunshine Coast. Contact the main office on (07) 3636-1686 to discuss an appointment at one of these centres.
Author and Information Source:
Jenny Kromberg, Principal Genetic Counsellor
Queensland Clinical Genetics Service
Australia
The Queensland branch of DEBRA-A is pleased to be a resource of information about EB. However, the information provided here should never take the place of advice from your health care provider. Be sure to check with your health care provider about any changes in your treatment plan.
Link to the EB Home Care Programme
A link is provided to the KITTZ- Home Care Programme for Epidermolysis Bullosa (EB). It is an information file that provides assistance to families caring for an EB patient at home. The EB Home Care Programme contains information on such things as:
- an integrated description of care
- information on dressing materials, ointments and nutrients
- information the patient can use to inform the appropriate people
The EB home Care Programme home page is located at the following web address:
http://www.debra-international.org/kittz/index.html
Opinions expressed in the above mentioned web site do not necessarily reflect the views of the Queensland branch of the Dystrophic Epidermolysis Bullosa Research Association of Australia. The information provided here should never take the place of advice from your health care provider. Be sure to check with your health care provider about any changes in your treatment plan.
Link to the DEBRA UK EB Patient Support: A Guide for Parents, Schools and Play
A link is provided to the DEBRA UK EB Patient Support: A Guide for Parents, Schools and Play web site. It is an information file that provides assistance for parents and schools on the issues to be considered when a child with Epidermolysis Bullosa (EB) is of school age. The guide contains information on such things as:
- Pre-School
- Skin care
- Day to Day issues
The DEBRA UK EB Patient Support: A Guide for Parents, Schools and Play home page is located at the following web address:
http://www.debra.org.uk/support/ebguide/index.htm
Opinions expressed in the above mentioned web site do not necessarily reflect the views of the Queensland branch of the Dystrophic Epidermolysis Bullosa Research Association of Australia. The information provided here should never take the place of advice from your health care provider. Be sure to check with your health care provider about any changes in your treatment plan.
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