AGSA
THE ASSOCIATION OF GENETIC
SUPPORT OF AUSTRALASIA INC.
NEWSLETTER
December 2005 ISSUE 75
CONTENTS
Filling the Void Project
Contact Corner
- OHDO Syndrome
- Partial Trisomy 10q
- Tetrasomy X 48 XXXX
- Familial Creutzfeldt Jacob Disease
Support Group News
Media Release
A-Z Genetic Conditions
A Personal Story
AGSA’s Contact Register
AGSA’s Support Group
PROUDLY SPONSORED BY
www.agsa-geneticsupport.org.au
MISSION STATEMENT
To facilitate support for
those affected directly
or indirectly by genetic
conditions throughout
Australasia.
ISSN1033 - 8624
FUNDED BY THE NSW HEALTH DEPARTMENT
EDITORIAL
The last few months have been busy
for AGSA. Face to face counselling
has been established and the first
telegroup counselling session on
Perthes disease will commence next
year in February.
AGSA’s 5th BRCA 1/2 Information
Day was a great success with a
record attendance of over 55 people.
Much information was shared and
many made new friends. Next years
information day is already attracting
attention from past attendees and
people who have just heard about
the day.
AGSA collaborated with Britt
Granath from the Hereditary Bowel
Cancer Registry to hold a HNPCC
information evening on November
16th. Dr Alan Spigelman, Claire
Groombridge and Britt Granath
gave great presentations. The result
was a very informative and informal
evening to the huge benefit of the
families who attended. It is
anticipated that this group will also
grow like the BRCA1/2 information
days.
I would like to wish you all a very
Merry Christmas and I hope 2006
brings many good things.
Until next year,
Best wishes
Dianne Petrie
AGSA Diary Dates:
2006 ACWA Conference incorporating
the 7th International Looking after
Children Conference
For more information:
www.acwa06.com
For information about any of the
following please call (02) 9211 1462.
“Filling the Void” telegroup counselling
13th February – 3rd April 2006.
“Filling the Void” Coffee morning for
parents / carers of someone with a genetic
condition 5th March 2006 in Wollongong
“Filling the Void” Coffee morning for
parents / carers of someone with a genetic
condition 12th March 2006 in Peakhurst
AGSA support group seminar on
Multiple Endocrine Neoplasia Type II
with Dr Bruce Robinson Dr Kathy Tucker
on 26th March 2006 at AGSA
headquarters, Surry Hills.
Rare Chromosomal Abnormality Coffee
morning 5th April 2006 at AGSA.
“Filling the Void” seminar / sibling
workshop “Challenges through the
Lifespan” 9th April, 2006 at AGSA.
AGSA will be running a number of
activities for siblings of who have a
brother or a sister with a genetic
condition, throughout 2006 please call
or email for more information. Carers
NSW also runs activities for young carers,
for more information about their
programs contact: YOUNG CARER
CLUB
Carers NSW Inc
Ph: (02) 9280 4744
www.youngcarersnsw.asn.au
The views expressed in this newsletter are not necessarily those of AGSA
AGSA Newsletter – December 2005 Issue 75
FILLING THE VOID PROJECT
REPORT
call. I am in the office Monday – Tuesday 9am –
5pm and Wednesday 9am – 2pm.
My email is [email protected]
Hello Everyone – I hope you all have a wonderful
Christmas and a very happy and safe New Year.
I just wanted to fill you in quickly on what has been
happening with the “Filling the Void” project.
After the very successful Lismore seminar and
sibling workshop, I began organising the same for
the Wollongong area. After speaking to families, I
found that what they really wanted in that area and
the surrounds was for me to visit them at home.
On these visits I took information regarding the
genetic condition their family member is affected
by, general information on AGSA and “Filling the
Void”, an expression of interest form for our
upcoming telegroup counselling, an evaluation form
for my visit and, of course, cake!
I felt so incredibly privileged to visit families in
their homes. It’s a great honour to be invited to
share a small part of families lives and I am grateful
for the experience. As a result, I feel I have a better
understanding of what people would like for future
support.
As I mentioned, we will be starting telegroup
counselling next year and will begin with people
caring for someone with Perthes Disease.
Telegroup counselling is a bit of a misnomer as it’s
really just a conference call linking up 2 facilitators
and 6 carers for one hour once per week for a period
of 8 weeks. The program is formed from the issues
raised by parents / carers in phone calls before hand,
but is flexible to allow for any topics which may
arise over the 8 weeks. I would love to hear from
anyone interested in participating in either the
Perthes group or following groups.
I will be organizing a number of rural and
metropolitan seminars, coffee mornings and sibling
workshops for 2006. A number of families have
expressed an interest in accessing support for the
siblings of their child with a genetic condition and
sibling workshops are a great way to achieve that so
keep an eye out for details in future newsletters and
the diary column. If you have any questions or
comments please
Laurie Taylor
Project Officer
CONTACT CORNER plus
SUPPORT GROUP NEWS
AGSA will publish requests for contact and letters from people
searching for families with similar experiences, from those seeking or
contributing specific information as well as other resource
information.
Anyone who wishes to reply to a request or a letter should write direct
to the individual or group concerned where an address is provided.
The AGSA office may be contacted for the information to be passed on
in the case of anonymous requests. Privacy and anonymity will be
ensured if requested. While AGSA aims to facilitate contacts between
families it is unable to assess the suitability of these in individual
cases.
It should be remembered that a shared genetic condition does not
mean an equally shared value system between families. Different
degrees of acceptance and different mechanisms for coping will be
encountered and a non-judgmental approach is recommended in
establishing contact.
OHDO SYNDROME
My name is Karen Low and I am the mother of five
year old identical twins with Ohdo Syndrome. I am
a member of an online support group for families
affected by this syndrome but know of only two
other families in Australia. As it took me such a
long time to find these people I wonder if there are
others in Australia who are also looking for support.
I would like AGSA to know about the support group
and also to put other families with Ohdo in touch
with me if they are looking for a local contact. I
would be happy to hear from anyone who lives with
this condition and is looking for others.
Ohdo UK Support Group details
Patricia Seville
36 Borrowdale Avenue
Gatley Cheadle Cheshire SK8 4QF
England
[email protected]
Yahoo Ohdo group established in 2004 has 20 plus
members. On this you can send messages, download
files (There are some medical files already on one of
the databases), download photos etc.
All members are parents of a child
with Ohdo Syndrome. Ages of
The views expressed in this newsletter are not necessarily those of AGSA
2
AGSA Newsletter – December 2005 Issue 75
children vary from 2 to 17. Very friendly group!
Website address www.seville44.fsnet.co.uk
PARTIAL TRISOMY 10q
A family who has a child with this condition would
like contact with another family.
TETRASOMY X 48 XXXX
My daughter has tetrasomy x (48xxxx) and I was
trying to find any other girls in Australia who may
have this same disorder. The genetics department
here in WA knows of no other cases in WA, and
believes that there are no others in Australia.
Familial Creutzfeldt Jacob Disease
Support Group
The Executive Committee of the Creutzfeldt Jacob
Disease Support Group Network (CJDSGN) and the
Australian National CJD Registry have recently
been involved in the development of a familial or
genetic arm of the CJDSGN for families who have
been affected by the genetic variant of Creutzfeldt
Jacob disease.
Originally established as a support service for
recipients of human pituitary hormones who are at
low risk of health care associated CJD, the
CJDSGN has acknowledge for some time that there
has been a need for support for all who are affected
by various forms of CJD in Australia.
The new genetic arm of the CJDSGN aims to assist
the families and friends of CJD victims who are in
need of information and support from others who
have had similar experiences. Of particular
importance to family members are issues pertaining
to Infection Control Guidelines and the difficulties
that they encounter in the medical system as highrisk patients. The group is in the process of
developing an information package. The package
will cover predictive testing procedures, infection
control issues, general information on CJD and
other issues such as grief counselling.
The group will be holding a meeting in New South
Wales next year for families who maybe interested
in joining.
If you know of a family or are interested please
phone Mandy Newton on 02 97990445
BOOK REVIEW from Climb Volume 2 No. 9
November 2005
Kindly reprinted with permission from Climb.
Relative grief: parents, sisters and brothers,
husbands, wives and partners, grandparents and
grandchildren talk about their experiences of death
and grieving. Clare Jenkins and Judy Merry
Forward by Dorothy Rave
Jessica Kinglsey Publishers 2005
This book gets in touch with emotions and the
practicalities of coping. A good book for anyone
wishing to understand the depths that grief can take a
person to and how it affects their life. Also an
excellent book for people who have suffered a loss
and want to know they are not the only person in the
world feeling like this.
“Death is the elephant in the living room, the huge
thing that everyone knows is there but no-one
mentions”
Pam Davies, Family Services Manager
_____________________________________
Pediatric Nutrition in Chronic Diseases and
Developmental Disorders: Prevention,
Assessment, and Treatment – Second Edition
Shirley W Ekvall and Valli K Ekvall
Forward by Dorothy Ravel
Oxford University Press April 2005. ISBN: 0-19516564-0
This is an enormous book with information about
certain disorders and nutritional information. The
book is separated into three parts. These are
Preventive Nutrition, Chronic Diseases and
Developmental Disorders and Hereditary Metabolic
Disorders. The parts are split into some specific
sections that tell us the type of disorders in the
section i.e. Nutrition and Growth, Feeding Disorders
and Disorders of Carbohydrate Metabolism.
A great book for paediatricans who have an interest
in nutrition and metabolic disorders.
Helen Watts, Research and Administration
Officer, Climb
_______________________________
Website http://www.cjdsupport.org.au
The views expressed in this newsletter are not necessarily those of AGSA
3
AGSA Newsletter – December 2005 Issue 75
News and Media Releases - Share Your
Experiences of Mothering a Child with Special
Needs
Source: Jodie Hahn
Posted: 17-5-2005
School of Occupational Therapy, La Trobe
University is conducting research into how mothers
of children with special needs spend their time. The
study seeks to determine how time demands on
mothers of children with special needs differ from
those of typically developing children; how time
use changes as a child grows older; and how the
type of care required impacts a mothers time use.
Mothers of children aged 6 to 18 years who require
additional support in self-care or mobility are
encouraged to participate. Participation involves
filling in a time diary in their own home.
Participation is confidential and mothers will not be
identified in any reports from the study.
Contact Name: Helen Bourke-Taylor or Jodie Hahn
Contact Phone: (03) 9479 5830
Contact Email: [email protected]
A – Z of GENETIC
CONDITIONS
It is the intention of AGSA to profile, in each issue, a particular
Support Group/Disorder, thus increasing awareness without
our membership of the range of genetic condition. Also it
hopes that where overlaps occur in conditions, support groups
may liaise with each other and thus gain a broader
understanding of facilities, aids, etc. that may be of value to
your individual membership.
Please ensure that all support group information is recent and
reliable. It is of paramount impotence that you let us know
your group is “Alive and Well’ and happy to take referrals.
We are happy to profile the Retinitis Pigmentosa
RETINA AUSTRALIA (NSW)
INC IS ONE OF THE
ORGANISATIONAL
MEMBERS OF AGSA
It covers genetically based retinal dystrophies which
fall within the general heading of Retinitis
pigmentosa.
There are thought to be about 350 types of genetic
aberrations within the scope of Retinitis pigmentosa
with just over 300 of them having been identified by
researchers as of late 2005. Whilst the progress of
the individual forms may vary, the end result is the
body is unable to provide the proteins required by
the retina to sustain its role of passing light to the
brain. Some of these genetic aberrations have
relevance to the development of
macular degeneration in persons of
late middle to old age.
The views expressed in this newsletter are not necessarily those of AGSA
4
AGSA Newsletter – December 2005 Issue 75
Within the retina there are around 6 million ‘cones’
centred around the macular – these are largely
responsible for the ability to have good central
vision – and around 106 million ‘rods’ responsible
for peripheral vision. The ‘starvation’ of protein in
most instances causes the retina to cease
functioning from the outside in so that affected
persons develop tunnel vision. Less common is
what is known as Stargardt’s disease where the
retina ceases functioning from the inside out leaving
affected persons without central vision.
Approximately 30% of sufferers will have Usher’s
syndrome which combines increasing deafness with
the progression of Retinitis pigmentosa in the eyes.
Retinitis pigmentosa is the major cause of youth
blindness and it is second only to diabetes as the
cause of blindness in the working age population.
Macular degeneration becomes the major cause of
advanced age blindness albeit that usually the
central vision only is affected ie peripheral vision
remains to a greater or lesser extent.
About one in every 80 persons worldwide is a
carrier of the disease which translates to about one
in every three thousand births having active
Retinitis pigmentosa. It can be inherited either by
autosomal dominant or X linked forms.
Symptoms of Retinitis pigmentosa are initially night
blindness, followed by tunnel vision and an inability
to cope with glare and movement from light to dark
areas and vice versa.
Research worldwide has been progressing since
around 1985 and as mentioned it is thought that
most of the errant genes have now been identified.
While this has been happening work has been going
on, worldwide, into the development of genetic
therapies for some of the forms of Retinitis
pigmentosa. Unfortunately each form will require a
specific genetic therapy. Non-human trials have
been conducted over recent years with human trials.
using one of the dominant forms. to commence late
2005/early 2006. The non-human trials have seen
not only the halting of the degeneration of the retina
but also the recovery of the assumed ‘dead’
cones/rods. Genetic therapies offer considerable
hope for a ‘cure’ however there are many hurdles to
be overcome over the coming years/decades. At
least there is now hope that what was only a year or
so ago regarded as an incurable disease is now in
the potentially curable area.
Retina Australia (NSW) Inc, through its national
body Retina Australia has provided significant funds
for research over the past couple of decades – over
$2- million has been provided and all of this has
essentially been raised by volunteers. Around
$200,000- of projects are financed or partly financed
each year – some of these include research into
aspects of macular degeneration.
The charity also offers peer support to newly
diagnosed sufferers and their families - and can
provide useful information on many of the major
Retinitis pigmentosa variants. Effects on families can
at times be traumatic when for example the bread
winner is faced with significant loss of sight in the
short term. Low cost membership of the
organisations enables sufferers to be kept up to date
with developments as they occur and other areas of
specific interest.
Public awareness is one of the major areas receiving
attention. Statistically, when relating the
membership to the estimated number of sufferers in
NSW and Australia, there must be many persons in
the community who have the disease and do not
know that we exist as a support group – of course
there are many yet to reach the stage where they will
be diagnosed with Retinitis pigmentosa.
Retina Australia (NSW) provides devices to children
of members which enable information written by
teachers on black/white boards to be transmitted to
the student’s lap top thereby avoiding the need for
them to sit at the front of the class just to be able to
see a modicum of what is written on the board.
There is an 1800 number which can be used to
contact the organisation irrespective of which
Australian state in which the sufferer lives. It is
1800 999 870. There is also a web site
www.retinaaustralia.com.au
Graeme Banks OAM
The views expressed in this newsletter are not necessarily those of AGSA
5
AGSA Newsletter – December 2005 Issue 75
∼ We want him to be challenged and to have fun in
his learning, whatever the pace may be.
∼ We want him to have choices and some control
in his life.
∼ We want his schooling to be a time of exploring
and developing his skills, interests and abilities.
We want Oscar’s life to be meaningful
∼ We want Oscar to be seen as the person he is,
with his unique personality, a wicked sense of
humour, a remarkable empathetic nature, and an
enormous capacity to love.
Living with a Rare
chromosomal abnormality A Personal story
∼ We want him to be loved, included and
recognised as a valuable member of his
community, whether that is his school, where he
lives or where he is employed.
This is…
∼ We want people to be given the opportunity to be
touched by and learn from this beautiful person.
We never want Oscar to be:
∼ cut off from people his own age,
∼ denied an opportunity or experience because of
someone else’s perception of his ability,
∼ lonely and isolated,
∼ given poor life choices that ‘fill in time’ or are
chosen for him by others.
Oscar James Palmer Berry
Our dream
∼ We want Oscar to be with children his own age,
who are unified through their age, but are
unique in their strengths, interests and
personalities.
∼ We want Oscar to have every opportunity and
experience someone his age can have.
∼ We want people to see that Oscar has value and
dignity, just like every other child.
∼ We want him to develop friendships and be
known amongst his community.
Oscar’s strengths
His personality
∼ Warm
∼ Funny
∼ Caring
∼ Highly empathetic
∼ Inclusive, and
∼ Untiring willingness to help others
His passion for:
∼ His family,
∼ Learning,
∼ Music,
∼ Playing (in particular tennis, swimming,
drawing, make believe and hide &seek),
∼ Animals (in particular dogs and horses)
∼ Having fun.
His determination to:
∼ Try,
The views expressed in this newsletter are not necessarily those of AGSA
6
AGSA Newsletter – December 2005 Issue 75
∼ Make the most mundane of tasks fun, and
∼ Never give up.
Oscar’s challenges
∼ Fine motor skills
∼ Concentration
∼ Mild cerebral palsy (in particular affecting his
left foot and ankle)
∼ His body letting him down:
- “Sometimes its far more interesting to watch
what the person next to me is doing than
focusing on what I’m meant to be doing”,
-
“I really want to tell you a story and be
involved in the conversation but I can’t get
my words out”,
-
“I really want to write my name and lots of
other words, but my hands get tired”
-
“I’m trying really hard but sometimes I get
really tired and find it hard to concentrate”.
Oscar’s loves
Sport: Basketball, Tennis, Gym, Swimming
Having his whole family together as much as
possible
TV: Kim Possible; Lilo & Stitch; American
Dragon; Chitty Chitty Bang Bang
Measuring (tapes – workman varieties are best) and
keys
Riding his scooter
Food: Chocolate; ice cream; noo-noos! (pasta);
yoghurt; icing.
news
SAN FRANCISCO - Federal regulators on
Thursday approved what would be the first
transplant of fetal stem cells into human brains, a
procedure that if successful could open the door to
treating a host of neural disorders.
ADVERTISEMENT
The transplant recipients will be children who suffer
from a rare, fatal genetic disorder.
The Food and Drug Administration said that
doctors at Stanford University Medical Center can
begin the testing on six children afflicted with
Batten disease, a degenerative malady that renders
its young victims blind, speechless and paralyzed
before it kills them.
More info at
http://news.yahoo.com/s/ap/20051020/ap_on_he_me
/brain_stem_cells
The emotional impact of
diagnosis and beyond
by Sue Hawkins
Copyright: This article cannot be reproduced in
part or full without the express permission of the
author and AGSA.
Definition of Grief
•
Grief is an emotional response to loss. It is
the pain of letting go.
•
The intensity of grief is directly related to
how much we value what we have lost
•
Losses can be unexpected, developmental
and fantasised
Living Grief
For me it’s like an ever present undercurrent to
all the other events in my life. It is a weight which
varies in its ability to drag me down, but it is
always there”
Stephanie Weaver: Looking the other way.
Disenfranchised Grief
•
This occurs when living grief is
unacknowledged by others.
•
It can intensify the experience of grief
•
Shock/numbness- protects from reality
•
Denial- hoping diagnosis wrong/drug taking
•
Guilt-anger- why me/what did I do/its not fair
•
Shame- I am worthless/need to
hide or cure children/l have
less value than parents with
The views expressed in this newsletter are not necessarily those of AGSA
7
AGSA Newsletter – December 2005 Issue 75
•
•
normal children/will try anything
•
Depression- feelings of being victimised,
powerless and hopeless
Society encourages males to deny grief and
take control
•
Giving up/adaptation/Acceptance- parents
put own well being at top of the list
Men are not used to acknowledging their
feelings
•
Culture determines the meaning of a
disability; the impact it has on the person
with the disability, their family or significant
others, and the community.
•
Many non western cultures have a negative
attitude to counselling
•
Approach to a support group may only be
made under extreme circumstances
How Grief Expresses Itself
•
Irrational outburst of anger
•
Forgetfulness
•
Unexpected teariness
•
Impatience and annoyance
•
Questioning
•
Feeling out of control
•
Sleep disturbances
Influence of personality and coping styles on
people’s reactions to a diagnosis
•
A and B personality types
¾ A types more prone to stress
The effects of grief
•
Different people grieve different and stay
different lengths of time in each stage
•
Regression-triggers
¾ B easy going
•
Coping Styles-Blunters and Monitors
¾ Monitors have a tendency to search
out information and focus on health
threats. Need lots of reassurance
¾ Situations
¾ Blunters avoid information, downplay
risks
¾ Five senses
•
Implementation of life strategies-e.g.
avoidance of certain situations
¾ Monitors experience more stress than
blunters
Factors influencing people’s reactions to a
diagnosis
•
Gender
•
Culture
•
Personality
•
Past losses
Influence of gender on people’s reactions to a
diagnosis
•
Females are supported by society to express
grief
•
Society encourages males to deny grief and
take control
•
Men are not used to acknowledging their
feelings
•
Females are supported by society to express
grief
Infuence of Past Losses on People’s reactions to a
diagnosis
•
Grief can be cumulative
•
Cumulative unresolved grief makes people
more sensitive to new losses.
It is important to understand the emotional base that
people are working from as this can help to
depersonalise negative interactions.
You cannot prevent the birds of sorrow from flying
over your head, but you can prevent them from
building nests in your hair.
Chinese Proverb
The views expressed in this newsletter are not necessarily those of AGSA
8
AGSA Newsletter - September 2005 Issue 74
List of Conditions on AGSA’s Contact Register
Aarskog syndrome
Achondrogenesis
Achondroplasia
Acoustic Neuroma
Acrocallosal syndrome
Acromegaly
Adams Oliver syndrome
Addisonís
Adrenoleukodystrophy
Agenesis of the Corpus Callosum
Alagille syndrome
Albinism
Alcardi syndrome
Alexander Disease
Alpha Manniosidosis
Alpha l Antitrypsin Deficiency
Alpha Thalassaemia X-Linked Mental
Retardation
Alport syndrome
Alstroms syndrome
Amyloidosis
Amyotrophic Lateral Sclerosis
Angelman syndrome
Aniridia
Ankylosing Spondylitis
Anodentia ñ Congenital
Anticardiolipin AB Type
Anti-Phospholipid Syndrome
Apert syndrome
Aplasia Cutis Congenita
Argininosuccinic
Aciduria & Citrullinaemia
Arnold-Chiari
Arthrogryposis
Aspergers syndrome
Ataxia ñhereditary
ATR16 syndrome
Autism
Baller-Gerold syndrome
Bannayan-Riley-Ruvalcaba syndrome
Bardet-Biedl syndrome
Bartter syndrome
Basal Nevus syndrome
Batten Disease
Beckwith-Wiedemann syndrome
Behcetís syndrome
Behr syndrome
Benign Essential Tremor
Berardinelli syndrome
Bilateral Iris Coloboma
Binder syndrome
Bloom syndrome
Blountís Disease
Borjeson-Forssman-Lehmann syndrome
Brown syndrome
Caffeys familial neurovisceral lipidosis
Caffeys generalized gangliosidosis
Caffeys Pseudo -Hurler syndrome
CAH & Hypoplasia Ducheene Muscular
Dystrophy
Camptomelic Dysplasia
Canavans Disease
Cardio facial cutaneous syndrome
Cardiomyopathy
Caroli syndrome
Carpal-tarsal osteolysis
Carpal Tunnel syndrome
Carpenter syndrome
Central Core Disease
Cerebellar Hyperplasia
Cerebo-Costo-mandibular
Charcot-Marie-Tooth Disease
Choanal Atresia
Chronic Granulomatous Disease
Choroid Plexucyst
Chronic Granulomatous disease
Cleidocranial dysplasia
Cobalamin E, C/G deficiency
Cockayne syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome
Cohen syndrome
Congenital Adrenal Hyperplasia
Congenital Alopecia Totalis
Congenital Anodontia
Congenital Cone dystrophy
Congenital Fibre Type Disproportion
Congenital Myotonia Dystrophy
Congenital Protein C deficiency
Conradi-Hunnermannís
Cornelia-de Lange syndrome
Corticobasal degeneration
Costello syndrome
Craniosynostosis syndrome
Cri-du-chat syndrome
Crouzon syndrome
Cushing syndrome
Cutis Marmorata Telangiectatica
Cyclical Vomiting Syndrome
Cystic Fibrosis
Cystinuria
Cytochrome C. Oxidase Deficiency
Dancing Eye syndrome
Dandy-Walker Malformation
De Barsy syndrome
Dejerine-Sottas disease
Dercum Disease
Desbuquois syndrome
Developmental Verbal Dyspraxia
Diastematomyelia
Di-George
D 2 hydroxyglutaric aciduria
Drash syndrome
Double Y syndrome
Duane syndrome
Dubowitz syndrome
Dysautonomia
Dyschondrosteosis
Ebsteins Anomaly of the Tricuspid Valve
Ectodermal dysplasia
Ectrodactyly
Ehlers Danlos syndrome
Ellis-Van Creveld Syndrome
Emery Dreifuss Muscular Dystrophy
Encephalocraniocutaneous Lipomatosis
Epidermolysis Bullosa
Epidermal nevus syndrome
Erythropoietic protoporphyria
Fabrys Disease
Facial Haemangioma
Factor V Leiden
Familial adenomatous polyposis coli
Familial Hiberian Fever
Familial Hyperinsulinaemia
Familial Mediterranean Fever
Familial Spastic Paraparesis
Fanconi Anaemia
Farber Lipogranulomatosis
Fazio-Londes syndrome
FG Syndrome
Fibrodysplasia Ossificans
Fish Odor syndrome
48, XXXY
48, XXYY
49, XXXXY
Fragile X syndrome
Fraser syndrome
Friedreichís Ataxia
Froelich syndrome
Frontanasal Dysplasia
Fryns syndrome
Fukuyama syndrome
Galactosaemia
Gardner syndrome
Gastroschisis
Gaucher Disease
Gitelman syndrome
Glucose 6 Phosphaate Dehydrogenase
(G6PD) deficiency
Glucosidosis Enzyme deficiency
Glycogen Storage Disease
GM1 Ganliosidosis
Goldenhar syndrome
Gorlin syndrome
Graves Disease
Guillain Barr syndrome
Haemochromatosis
Hailey-Hailey Disease
Hajdu-Cheney syndrome
Hallermann-Streiff syndrome
Hallervorden-Spatz Disease
Hartnup Disease
Hemihypertrophy
Hemimegalencephaly
Hereditary Angioneurotic Edema
Hereditary Fructose Intolerance
Hereditary Haemorrhagic Telangiectasia
(Rendu Osler Weber syndrome)
Hereditary Multiple Exostoses
Hereditary non polyposis colorectal cancer
Hereditary Spastic Paraplegia
Hereditary Spherocytosis
Hirschsprungís Disease
Holoproscenphaly
Holt Oram syndrome
Holoprosencephaly
Homocystinuria
Homolateral Brain syndrome
Hunter syndrome
Huntington Disease
Hydrocephalus
Hydronephrosis
Hyperargininaemia
Hyper IGE syndrome
Hyperexplexia (Startle Disease)
Hypertrophic Cardiomyopathy
Hpoochondroplasia
Hypoplasia of the Cerebellum
Hypomelanosis of Ito
Hypophosphatemic Bone Disease (HBD)
Hypophosphatasia
Hypopituitarism
Hypoplastic left heart syndrome
Hypoplastic Primary Vitreous
Hypotension Orthostatic
Hypothyroidism
Idiopathic pulmonary fibrosis
Idiopathic Thrombocytopenic Purpura
Immotile Cilia syndrome
Incontinentia Pigmenti
Ivermark syndrome
Jacobsonís syndrome
Jeune syndrome
Job syndrome
Johanson-Blizzard syndrome
Joubert syndrome
Kabuki Make-up syndrome
Kallmann syndrome
Kawasaki syndrome
Kearns Sayre syndrome
Kennedyís disease
Keratosis follicularis spinulosa decalvans
Klinefelter syndrome (47,XXY)
Klippel-Feil syndrome
Klippel-Trenaunay Weber syndrome
Krabbe Disease
Kyphomelic Dysplasia
Landau-Kleffner syndrome
Langer-Giedion syndrome
Larsen syndrome
Laurence-Moon-Biedl
Lebers Optic Atrophy
Leigh Disease
Leopard syndrome
Leri-Weill syndrome
Lesch Nyhan syndrome
Leukodystrophy
Li-Fraumeni
Limb Girdle Muscular Dystrophy
Lipodystophy & Brownís syndrome
Lissencephaly
Long-chain-3-hydroxyacyl coenzyme A,
dehydrogenase deficiency
Long QT syndrome
Loweís syndrome
Lujan-Fryns syndrome
Lymphas Genphasia
LAM (lymphangioleiomyomatosis)
Lysosomal Storage Disorders
Machado Joseph syndrome
Maple Syrup Urine Disease
Marfan syndrome
McCune Albright (Polkystotic Fibrous
Dyplasia)
McKusik Kaufman
Megalocornea Mental Retardation
MELAS syndrome
Menke syndrome
Metachondromatosis
Metatropic Skeletal Dysplasia
Methylmalonic academia
Microcephaly
Miller-Dieker syndrome
Minicore disease
Mitochondrial Myopathies
Moebius syndrome
Monosomy 9p
Motor Neurone Disease
Mucopolysaccharidoses
Mullerian Duct Agenesis
Multiple Endocrine Neoplasia 2B
Multiple Epiphyseal Dysplasia
Multiple Exostores
Muscular Dystrophy
Myasthenia Gravis
Myotonia Congenita
Myotonic dystrophy
Nager & Miller syndrome
Nail Patella syndrome
Narcolepsy
Netherton syndrome
Neuroaxonal Dystrophia
Neurofibromatosis
NF + Noonan syndrome
Neuronal Intestinal Dysplasia
NF1 Noonan syndrome
Niemann-Pick Disease
Nonketotic Hyperglycinaemia
Noonan syndrome
Norrie syndrome
Nystagmus
Oculo-dento-digital syndrome
Ohdo syndrome
Olivo-Ponto-Cerebellar-Atrophy
Olliers Disease
Ophthalmia: Anophthalmia & Microphthalmia
Opitz Fg syndrome
Opitz trigonocephaly
Oral-Facial-Digital syndrome
Organic acidemia
Ornithone transcarbamylase deficiency
Osteogenesis Imperfecta
Osteopetrosis
Pachyonychia congenita
Paget disease
Pallister-Hall syndrome
Pallister-Kellian syndrome
Paroxysmal Nocturnal Haemoglobinuna
Paroxysmal kinesigenic choreoathetosis
Partington syndrome
Peho syndrome
Pelizaeus-Merzbacher Disease
Pena-Shokeir syndrome type1
Pendred syndrome
Peripheral Neuropathy (CMT TypeII)
Persistent hyperinsulinenuic hypoglycemia
(PHHI)
Perthes syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome
Phenylketonuria (PKU)
Picks Disease
Pierre Robin syndrome
Poland syndrome
The views expressed in this newsletter are not necessarily those of AGSA
Polyostic Fibrous Dysplasia
Polycystic Kidney Disease
Polycystic Ovarian syndrome
Pompe disease
Popliteal Pterygium syndrome
Porphyria
Post Polio syndrome
Potter syndrome
Potterís syndrome
Prader-Willi syndrome
Primary agammaglobulinaemias
Primary Immune Deficiency
Progeria syndrome
Progressive Myoclonic Epilepsy
Progressive Supranuclear Palsy
Proteus syndrome
Pseudo hypoparathyroidism
Pseudoxanthoma Elasticum (PXE)
Pycnodysostosis
Pyridoxine dependency
Pyruvate dehydrogenase deficiency
Pyruvatekinase deficiency
Rare Chromosomes Disorders ñ includes
deletions, inversions, trisomies, duplications,
ring, uniparental disomy, mosaicism,
tetrasomies, translocations
Raynaudís disease
Reinfenstein syndrome
Retinitis Pigmentosis
Rett syndrome
Richardson-Steele-Oblizewski syndrome
Robinow syndrome
Rubenstein-Tabi
Russel-Silver syndrome
Refsum disease
Saethre-Chotzen syndrome
Sandhoffs disease
Sanfilippo disease
Sarcoidosis
Schinzel Giedion syndrome
Schmid Type Metaphyseal Chondrodysplasia
Schwachman syndrome
Septo-optic Dysplasia
Severe Combined Immune Deficiency
Severe Immune Deficiency
Short stature and Skeletal Dysplasia
Shprintzen syndrome
Shy Drager syndrome
Simpson Golabi syndrome
Sjogren syndrome
Smith-Magenis syndrome
Sotos syndrome
Spina Bifida
Spinal Muscular Atrophy
Spinocerebellar Ataxia TypeII
Spondylocostal Dysplasia
Spondylometaepiphyseal dysplasia
Sponylo Epiphyseal Dysplasia
Shprintzen syndrome (Velo Facial Cardio
syndrome)
Steve Johnson syndrome
Stickler syndrome
Sturge Weber syndrome
Systemic Lupus Erythematosis
TAR syndrome
Tay Sachs disease
Thalassaemia
Tibial Hemimelia
Tourette syndrome
Townes Brock syndrome
Treacher-Collins syndrome
Trichothiodystrophy
Trimethylaminuria
Triple X syndrome (47,XXX)
Trisomy4,5,8,9,10,12,13,18
Tuberous Sclerosis
Turner syndrome (45,X)
Tyrosine Anaemia
Undiagnosed conditions group
Usher syndrome
Vater;s syndome
Velo-Cardio-Facial Syndrome
Vitiligo
Von Hippel-Lindau syndrome
Von Witterbrand disease
Weaver syndrome
Weill-Marchesani syndrome
Werding-Hoffman syndrome
West syndrome
Whistling face syndrome
Wiedemann-Rautenstrauch syndrome
Williams syndrome
Wishott-Aldrich syndrome
Wolf-Hirschhorn syndrome
Wolfrau syndrome
Wolfmans disease
Xeroderma Pigmentosa
X-linked Agammaglobulinanaemia
X-linked Hypophosphatemia (XLH)
XLP syndrome
Zellweger syndrome
PLUS 134 ORGANISATIONS
AND SUPPORT GROUP
MEMBERS.
15
AGSA Newsletter - September 2005 Issue 74
AGSA‘S SUPPORT GROUP & ORGANISATIONAL MEMBERS
as at January 2004
Act Muscular Dystrophy Association Inc.
Androgen Insensitivity Assoc. Support Group of Australia
Alagille Syndrome Support Group
Albino Support Group
Angelman Syndrome Assoc. Inc.
Alzheimer’s Assoc of Aust Inc.
A.P.I.A. (Aust.Primary Immune Deficiencies Assoc.)
Assoc. for Children With a Disability, Vic.
Assoc. for the Welfare of Child Health (AWCH)
AUSSIE FOLKS
Australian Addison’s Disease Assoc. Inc.
Aust. Arthrogryposis Group (TAAG) Inc.
Australian Assoc. for the Welfare of Child Health (AWCH)
Aust. CHARGE Association
Aust. Crohn’s & Colitis Assoc.
Aust. Huntington’s Disease Association (Qld) Inc.
Aust. Huntington’s Disease Assoc. (NSW) Inc.
Aust. Speak East Assoc.
Australasian Tuberous Sclerosis Society Inc.
Aust. Leukodystrophy Support Group
Aust. Society for Ectodermal Dysplasia
Autistic Assoc. of NSW
Batten’s Disease Support & Research Assoc. Inc. (Australian
Chapter)
Beckwith-Weidemann Syndrome Support Group
Bunyip Special Needs Group Inc.
Cardiomyopathy Assoc of Aust. Ltd.
Centacare Early Intervention.
Centre for Developmental Disability Studies
Charcot Marie-Tooth Assoc. of Australia Inc.
Charcot Marie-Tooth Disease, USA
Child & Family Health Centre
Child Health Information Centre
Community Resource Team (Albury)
CONTACT A FAMILY U.K.
Cleft Pals, The Cleft Palate & Lip Society
CLIMB Children Living with Inherited Metabolic Diseases
Coeliac Society of NSW Inc.
Congenital Adrenal Hyperplasia Support Group
Cornelia de Lange Syndrome Support Group
Cri du Chat Syndrome Support group of Australia Inc.
CVS Support Group (WA)
Cystic Fibrosis Assoc of Qld Ltd.
Cystic Fibrosis Assoc. of Vic
Cystic Fibrosis New South Wales
Early Education Clinic, North Sydney
Early childhood Intervention Program
DIAL (Qld)
Donor Conception Support Group
Depressive & Manic Depressive Assoc.
Dystrophic Epidermolysis Bullosa Research Association (DEBRA)
NSW. Inc.
Early Learning Tasmania
Ehlers-Danlos Syndrome Support Group
Exceptional Parent (USA)
Fabry’s Support Group Inc.
Family Advocacy
Family Planning Assoc.
Fragile X Assoc of Australia
Friedreich Ataxia Assoc of NSW
Gaucher Assoc. of Australia
Genetic Alliance (USA)
Genzyme Australia Pty. Ltd.
Genetic Interest Group (GIG) (UK)
I.D.E.A.S. Inc
Kidney Kids Support Group NZ
Klinefelter Syndrome Support Group
Kurrajong Early Intervention
Haemochromatosis Society Inc.
Haemophilia Foundation NSW
Hereditary Cancer Registers (NSW Cancer Council)
Hereditary Haemorrhagic Telangiectasia
Hereditary Fructose Intolerance
Hunter Orthopaedia School
IDEAS Inc.
Kidney Kids of NZ Support Group
Maternity Alliance
NALAG
Leukodystrophy Foundation (USA)
Leigh’s Disease Support Group
Lowe’s Syndrome Assoc. Inc. (USA)
Lower Nth Shore Community Support Team
Lupus Association of NSW Inc.
Lysosomal Diseases Australia
M.P.S. Society
Marfan Syndrome Support Assoc. NSW
Marfan Syndrome Assoc. Australia (S.A.Branch))
Meniere’s (NSW) Support Group
Mental Illness Nervous Disorders Association
Metabolic Dietary Disorders Association (MDDA)
Mid North Coast Area Health Taree Genetics Service
Motor Neurone Disease Assoc. of NSW Inc.
Multiple Epiphyseal Dysplasia Assoc.
Muscular Dystrophy Assoc of NSW
Muscular Dystrophy Assoc (NZ) Inc.
National Council of Intellectual Disability
NCOSS (NSW Council of Social Services)
Neurofibromatosis Assoc.
Noonan Syndrome Support Group
NSW Genetics Education Program
NSW Cancer Council
Osteopetrosis Support Group
Osteogenesis Imperfecta of Aust.
Parents Bereavement Support Group
Parent to Parent (NZ)
Pen-Parents of Aust. (ACT)
PKU Assoc of NSW
Polycystic Kidney Disease Association
Psoriasis Society
Pseudohypoparathyroidism Support Group
Pseudoxanthoma Elasticum Support Group
Prader-Willi Syndrome Assoc. of NSW (Aust) Inc.
Pyruvate dehydrogenase deficiency.
Rare Chromosomes Disorders Support Group
Retina Australia (NSW) Inc.
Rett Syndrome Assoc. of Aust.
Royal Blind Society of NSW
SAFDA (Support After Foetal Diagnosis of Abnormality)
SANDS
Short Statured People of Northern Qld
Short Statured People of Aust (NSW)
Short Statured People of Aust (Vic)
Short Statured People of Aust. (SA)
Spinal Muscular Atrophy
Schizophrenia Fellowship NZ
Smith Magenis Syndrome Support Group Inc.
Spastic Society of Victoria
Spina Bifida Assoc. of NSW
Spina Bifida Assoc. of WA Inc.
Society of Ectodermal Dysplasia
Southern Child Care Support Program
Sotos Syndrome Support Group
Steele Street Early Special Education Centre Devonport
St Paul’s Special School
The Chromosome 18 Registry & Research Society
The Northcott Society
The Toybox Centre Inc.
Thalassaemia Society of NSW
Turner Syndrome Assoc of Aust. Ltd. (QLD)
Turner Syndrome Assoc of Aust. Ltd. (SA)
Turner Syndrome Assoc. of Aust. Ltd. (NSW)
Uncontrolled Epilepsy Support Assoc (Vic)
United Leukodystrophy Foundation (USA)
Velo-Cardio-Facial Syndrome Foundation of Australia.
Wellington Huntington’s Disease Assoc. (Inc.) (NZ)
Western Institute for Self Help (W.I.S.H)
West Syndrome Support Group
Wolf-Hirschhorn 4p- Syndrome Support Group
Williams Syndrome Association of Aust. Inc.
(NB: This list represents support groups and
associations members only. In addition to this list of
members AGSA has established a Contact Register
over 550 genetic conditions representing families and
individuals seeking contact.)
The views expressed in this newsletter are not necessarily those of AGSA
16
The Association of
Genetic Support of
Australasia Inc. (AGSA)
66 Albion Street
SURRY HILLS
New South Wales 2010
AUSTRALIA
Email addresses:
[email protected]
[email protected]
Web: www.agsa-geneticsupport.org.au
Tel: + 61 2 9211 1462
Fax: + 61 2 9211 8077
Office Hours:
Mon – Tues 9 am – 5pm
Wednes 9 am - 4.00 pm
Thur –Friday 10am – 4pm
Medical and Professional Advisory
Board
Dr K. Barlow-Stewart PhD; BSc
Prof. D. Sillence MB BS; MD (Melb;
FRACP; FRCPA, FAFPHM
Prof. G Morgan MB BS; FRACP
Prof B Wilcken MB;ChB;FRACP
Prof. R.Trent PhD; BSC (Med); MB BS
(Syd; BPhil (Oxon), FRACP; FRCPA.
AGSA aims to:* provide a contact point for
families who are affected
by genetic conditions so
rare that they do not have
their own support group.
* facilitate access to
individual support groups
for those families with a
particular genetic
disorder.
* provide a forum for the
exchange of
information between
support groups regarding
available community
services.
* educate the medical and
allied health professionals
and the community about
genetic disorders.
* consult with government
bodies, both Federal and
State, for appropriate
funding for genetic
services.
Subscription Year lst July - 30th June
ANNUAL SUBSCRIPTION
Individual
$24.00 incl.GST
Group/Organisation $48.00 incl.GST
* The views expressed in this
Newsletter are not necessarily
those of AGSA*