One out of five of you who have survived an aortic dissection who are reading this, probably carry the ACTA2 mutation encoded in the DNA of your cells.
“ACTA2 mutations are responsible for disease in approximately 20% of families with thoracic aortic aneurysms and dissections (TAAD). In 2009 Dr. Milewicz, who directs the John Ritter Research Program, and her research group, identified ACTA2 as a gene that causes TAAD.” – News – John Ritter Research Program – March 18th 2015
If you have children, there is a possibility that they have inhereted this mutation from you.
Doing genetic testing, can show if you have this, or other mutations on genes that can cause aortic dissection for your children.
The mutation ACTA2 was found in Huston USA by Dr Mileswicz and her research team. Today, in 2015, this mutation is analysed in most countries with the genetic resources to find mutations connected to aortic dissections.
Research saves lives. But it needs your support, and our help to get known to others. Today, many doctors still think that aortic dissection is a condition that either only comes from a life where the paintent has suffered from untreated high bloodpressure, drug abuse, a result of a physical trauma like a traffic accident or perhaps as a condition following one of the known connective tissue diseases like Ehlers-Danlos syndromes (EDS), Marfan syndrome (MFS), Loeys–Dietz syndrome (LDS).
Today we know more than this. We know now that TAAD can be a familial diseases. And the person who gets illa can look as anyone, and not fall into the old categories of patients known by many doctors. But this knowledge is new, and many docotrs did not get this information when they studied medicine. And since they studied in medical scholl, they may never have met a singe patinet who has survived an Aortic Dissection.
I can sound stupid, saying that the patients should help the doctors to find out recent research. But it is not.
Doctors have 6.000 rare diseases to face in their work. Aortic Dissection is only one of these. Then there are ten thousand more known diseases.
We who are affected by aortic dissections (patients, families, friends, the loved one left behind if someone has died in this disease) – we all need to help to communicate important things, like the new knowledge that also persons with no trace of connective tissue diseases, can carry genetic mutations that causes aortic dissection.
One way to do this is to get active on the global Aortic Dissection Awareness Day September 19. Then we can benefit of creating interest around our rare disease, by going out in many cities, to many hopitals, in many countries, all over the globe on the same day.
Read more on ACTA2 and the John Ritter Research program (click here)