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Entitled
Laura's choice - Reproductive options for carriers
of Duchenne Muscular Dystrophy - the DVD produced
by Parent Project Muscular Dystrophy in the USA
(PPMD) by Australian creative director, Helen
Posselt, follows the journey of a fictional young
woman whose brother has Duchenne Muscular Dystrophy
(DMD). Laura learns she is a carrier and in preparation
for a serious relationship and motherhood, Laura
visits geneticists and counselors and learns about
the options and choices open to her, including:
CVS, amniocentesis and IVF.
The DVD is the second multimedia educational
resource produced by PPMD by their Australian
Educational Director who is also the Educational
Advisor for Parent Project Australia (PPA). Her
first DVD, released at the PPA's National Conference
last year, is entitled "Giving a Face to
Duchenne" and covers all diagnostic, treatment
and research avenues associated with Duchenne
Muscular Dystrophy. However, Laura's Choice has
relevance to all inherited diseases thus informing
female carriers and their partners of their reproductive
choices. Women at risk of passing on genetic disorders
will find the production invaluable and should
gain the confidence to pursue lasting relationships
with a view to raising children of their own.
In addition, Laura's Choice, touches on the future
of reproductive medicine by referring to the gene
smear test developed for carriers of cystic fibrosis,
enabling women to be tested without the risk and
anxiety associated with CVS and amniocentesis
in the sixth week of their pregnancy. The DVD
is also suitable for secondary & tertiary
students and the overview also features footage
of the procedures discussed.
Laura's choice was launched at the PPMD Cincinnati
conference in July and distributed to over 300
US families. Over 100 Queensland families are
affected by Duchenne & Becker Muscular Dystrophy
with similar populations in other states. Now
Australian families have access to the resource
through Parent Project Australia. The DVD is such
a valuable resource for women and such a worthwhile
export that The Department of Women's Affairs
have short-listed Helen Posselt for a "Women
in the Smart State Award" for the second
year running.
Duchenne muscular dystrophy (DMD) is the most
common form of muscular dystrophy. 1 in 3,500
live born males in all races live with Duchenne.
It is caused by a mutation of a gene on the X
chromosome, which provides the instruction for
the production of the protein Dystrophin. This
protein is located inside the muscle cell membrane.
When it is absent, the muscle cells collapse and
die and Duchenne muscular dystrophy develops.
Symptoms of DMD usually appear between ages two
and five years and may include difficulty: running,
jumping, climbing and rising from the floor; frequent
falls, enlarged calf muscles, toe walking and
delays in language acquisition. The first muscles
affected are those around the hips and upper thigh.
Weakness gradually progresses to include all skeletal
muscles, the muscles of respiration and the heart.
"Laura's Choice - Reproductive
Options for Carriers of Duchenne Muscular Dystrophy"
is available from Parent Project Australia PO
Box 468, Smithfield. Qld 4878 or by emailing info@parentproject.org.au
For further information contact The Secretary
at the above email address or by phoning 07 40575731
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