Fund a National Screening Program for carrier testing for Spinal Muscular Atrophy (SMA) within Australia
This National Awareness Campaign will also need educate the
- General Public
- GP Doctors
- Obstetricians / Gynaecologists
in regard to the chronic disease Spinal Muscular Atrophy, so that people (couples) are aware that testing is available and have the choice whether to decide to have genetic testing for this disease. We can prevent this disease through this program.
Spinal Muscular Atrophy (SMA) is the most severe form of degenerative motor neurone disease. Muscles degenerate and become weaker and weaker over time. Depending on the severity of SMA some children never sit or stand unaided, never get to run around and play. Breathing can be impaired and pneumonia can be fatal.
Children with SMA appear normal in every way, except are extremely weak. They are bright and alert and very interested in people and what is going on around them.
i) Type 1 Number One genetic Killer of children under 2 years of age.
ii) Type 2/3 has a limited life span on the sufferer.
iii) SMA is a genetic inherited recessive disease.
iv) More babies die from SMA than any other disease.
v) The gene mutation that causes SMA is carried by 1 in 35 people.
vi) SMA is estimated to occur in nearly 1 out of every 6,000 live births.
vii) Importance of Genetic Testing Pre-Pregnancy
viii) Couples (if both carriers) have 1 in 4 chance of giving birth to a baby with SMA.
ix) There is currently no standardized treatment and no cure for SMA.
x) SMA is a muscle wasting disease and not only wastes all the external muscles (use of arms and legs) but internal muscles (like breathing)
xi) Information booklets available to general public in all medical
practitioners consulting rooms.
Awareness of the disease- Spinal Muscular Atrophy and its effects along -with the availability of Genetic Testing to couples pre-conception would:
1) Enable a couple to evaluate the risk of giving birth to a SMA baby.
2) Give a couple choices as to methods of conception
Please note: This is the official petition generated by the Spinal Muscular Atrophy Association of Australia Inc. in conjunction with and supported by Genetic Health Services Victoria (situated at the Royal Children's Hospital Vic) and the SMILE Foundation. For further details or any queries please contact the Association.
www.smaaustralia.com
