Tuesday, 9 August 2011

Australian Story - Marfan Syndrome

The ABC show Australian Story recently featured a family with Marfan Syndrome.

Marfan and Beals Syndromes are very similar. Marfan Syndrome involves a mutation of Fibrillin 1 whilst Beals Syndrome involves a mutation of Fibrillin 2. They both involve long stature and long slender limbs. However typically skeletal issues (such as scoliosis, clubfoot, joint contractures) are greater in Beals Syndrome, and heart issues (life-threatening defects of the heart valve and aorta) are greater in Marfan Syndrome.

In this episode of Australian story, Alisa and her two brothers were born with this genetic disorder, passed on from their mother. The show explores Alisa's desire to have children, however her concerns with passing on the gene to the next generation. People with Beals and Marfan Syndromes have a 1:2 chance of passing the gene onto their children. The decision of what to do in this situation is very difficult.

Alisa's story is complicated by the fact that due to her heart involvement, her life would be at risk if she bore a child, regardless of the genetic decisions.

Although personally we have decided not to pursue avenues of genetic testing in order to have more children, this is something that Evelyne will have to make decisions on one day.

You can watch the episode via the link below until 21/08/11.


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