My story is truly one of heartbreak and pain. I recently lost my 14 year old son to aortic rupture caused by vascular Ehlers-Danlos syndrome, and that’s how I received my diagnosis. By this time I did already have two siblings diagnosed with vEDS, so we already knew there was a possibility of having it.
This really all began with my mother, who went undiagnosed her entire life. She had been a very sick child her whole life, and passed away at 37 from a subcranial aneurysm that caused dissection. Genetics were almost unheard of when she was born, and even when she passed in 2000, they claimed it was “just one of those things that happen.”
She had five children, three of whom have been diagnosed with vascular Ehlers-Danlos syndrome; one passed away at age 18 from aortic dissection, which we assume was from vEDS. When my sister passed away, my father tried to get genetic testing done, but was told by his pediatrician that it was unnecessary. My younger brother was the first to get an official diagnosis; he experienced a lower bowel perforation at age 25, and during his follow up care took a DNA test that confirmed it.
We began questioning our own care provider about testing for myself and especially my two children. They were firm that our state health care would never cover the testing and it was extremely costly. We asked for notes to be made in my children’s file about this being present in family history, which we now know they did not note. My son Gavin became extremely ill with the worst flu symptoms he had ever experienced in the first week of November. His symptoms became frighteningly worse over two weeks, so I took him to his primary and expressed concerns with vEDS and the severity of his condition. They dismissed those concerns and sent him home with cough syrup.
After looking at his records from this visit, we found that his blood pressure was extremely high, as was his pulse. Another 10 days later he woke up in the middle of the night and vomited a large amount of blood. Fearing the worst I rushed him to the E.R. where I explained our family history. I lost my mother and sister to ruptures, and I felt as if something was terribly wrong. The doctor told me; “sometimes when we vomit blood, it’s just part of the healing process”. They said my family history didn’t merit further investigation, prescribed more cough medicine and sent us home. I cried and literally begged them to take images or do tests, but those pleas fell on deaf ears and I woefully took him home.
About six hours later he began to complain of terrible chest pains, and a little while later his neck began to swell. We know now that his aorta had ruptured and he was hemorrhaging into the soft tissue of his neck. I rushed him back to the E.R and to the same doctor that had sent us away, about ten minutes before his chest cavity filled with blood and he was gone.
The horror of this situation is devastating, but did come with a dull silver lining. We have since been given referral to OHSU genetics department and received approval for DNA testing for my surviving son, which unfortunately came back positive for vEDS. I also am suffering from various health conditions that come with vEDS, like heart issues, collapsed lung without trauma, and other vascular issues, but have yet to get approval for official DNA testing.
I believe our story is important to share because of how the medical staff treated us; we need to get more information about vEDS out there. It may be able to spare another family from this life altering trauma. If we had been on a care plan, Gavin may have survived. The more education we get out about vEDS, the more chance others may have of surviving something like this.
