We had never heard of Loeys-Dietz Syndrome until it was discovered to be the cause of death for our 18-year-old son, Ryan. It happened on August 18, 2013.
Since then, through geneticc testing, both my wife and daughter were diagnosed with LDS. Our 21-year-old daughter, Katherine, was being closely monitored because it was found that the size of her aorta was enlarging rather quickly. It was decided that she required surgery. On June 2, 2014 she had her ascending aorta and aortic valve replaced. The surgery was successful! And after six weeks she was declared healthy enough to travel.
While visiting family out of state, Katherine had a mild stroke and was taken to the local ER. There the doctors had some testing done and it was found that she had an infection in her chest around the recent surgical site. She was airlifted to a Magnet Hospital in Pennsylvania. There, after open heart surgery, it was found that Katherine had come in contact with a fungus called Rhizopus Microsporus during her first aortic surgery.
It had developed undetected and was a massive infection around her heart. After three weeks in intensive care and a total of three open heart surgeries, Katherine’s body succumbed to the ravages of the fungus; she died on August 17, 2014. A year to the day after her younger brother had died.
My wife and I have since started a charitable organization which is dedicated to education and awareness. We found that with a Rare Disease, the patient and/or their advocate MUST know everything possible and be certain that the treating physicians are up to date and informed. Had a physician recognized the physical symptoms of LDS Ryan would be alive today, instead his initial early morning visit to an ER was dismissed as heartburn and/or simple muscle soreness. Had physicians taken serious note of certain symptoms that Katherine developed after her surgery, she would have stood a much better chance of surviving.