Centralia resident finds joys in midlife with rare genetic condition
By Daniel Warn / [email protected]
Centralia resident Ann Barlow has died twice.
Suffering from a rare genetic condition called vascular Ehlers-Danlos Syndrome (vEDS), Barlow lay flat on an operating table in 2016 and then again just two months ago.
She lived two years longer than doctors had originally expected.
“So I used to have that saying,” Barlow told The Chronicle. “I used to say, ‘You only live twice’ because people (say) ‘you only live once.’ And now I say, “You only live three times,” so that’s sort of my motto.
A connective tissue disorder, vEDS affects a type of collagen that acts on hollow organs, arteries, and vessels. It’s some kind of defect in the COL3A1 gene.
“It’s definitely fatal,” Barlow said. “Most people don’t live beyond 50 with it. It’s amazing if you’re in your 60s or 60s with it. … I will be 39 this year.
vEDS differs from the broader Ehlers-Danlos syndrome. Both affect collagen, but the broader Ehlers-Danlos affects a different type of collagen gene, one that affects connective tissue in things like joints, leading to dislocations and double knuckle.
“But because (vEDS) affects a different type of collagen, things like double jointing don’t really affect us,” Barlow said. “It’s mainly our tissues inside that are super fragile.”
People with vEDS often have smooth, transparent skin, thin lips, ears without lobes, wide eyes, a thin nose, and a short stature.
“Sometimes we blend in with the crowd, but it’s funny…when you have a bunch of vEDS people around, you’re like, ‘You guys – you all have to be family,'” Barlow said.
Passed down genetically from a dominant gene from the parent a person inherits it, vEDS has a 50% chance of passing to the next generation in a particular family. In Barlow’s case, she and her brother both got it from their father.
Barlow was first told that only one in 250,000 people have the broader Ehlers-Danlos syndrome, but since then she said she’s heard of one in 50,000 to one in 90,000.
“I think it really depends on what type you have,” Barlow said. “I know in Washington State there are only a handful of families with vEDS.”
Because vEDS is so rare, research into it is only growing, Barlow said.
“We didn’t know what my dad had for a very long time,” she said. “And it was like he had complications throughout his life, like his gut had ruptured when he was (in his early thirties). I believe he had just married my mom. The doctor said her intestines were like wet tissue paper and (he) would never have really seen anything about it.
Then, one morning 30 years ago, he was diagnosed with the disease at the University of Washington Medical Center. He died of it at the age of 49 on December 12, 1994. Barlow had just turned 11.
After their father’s death, Barlow and his brother were tested for the disease by a doctor, who confirmed that they had the physical characteristics of vEDS. Her brother was tested on the spot, but Barlow refused the test until she was 15, when she finally tested positive.
“I didn’t have much to do until I turned 21 and spontaneously had two internal carotid artery aneurysms,” Barlow said. “It mainly affects our insides, but there are people, like my brother, who…have already ruptured their Achilles tendon.”
When Barlow was in her early twenties, she had two aneurysms in her internal carotid arteries, located just behind her eyeballs.
Barlow said that between my early twenties and around 2016, “I had a few dissections, but I didn’t know they were dissections. We actually thought they were ovarian cysts which had ruptured. So subsequent scans didn’t reveal that until much later. …And then in 2016, I started to pass out.
She said fainting is common in people with vEDS because their “vessels are a little weird.”
But then she had pain in her side, which she and doctors thought was a kidney infection until she pushed for CT scans, which showed her kidney artery had ruptured.
Doctors told her they needed to transfer her “as soon as possible” to specialists. She had had several arteries ruptured or dissected.
“An arterial wall is made up of three walls, I believe,” Barlow said. “And a dissection is when one of those inner walls tears open and the blood has a new path, but it hasn’t come out of the artery yet. It’s not a bulge like an aneurysm.
As she spoke with The Chronicle on Tuesday from outside her childhood home in Centralia, she said she was still recovering from a 10-hour operation that happened two months ago where they replaced a section of his aorta and iliac arteries with a pipe. The aorta is the main artery that runs from a person’s heart to their body, supplying blood to all the other small arteries.
The operation was major and the doctors initially said they didn’t think the surgery, in general, was a good idea, given its intensity. But she had also had several aneurysms, so a doctor said they needed to be taken care of before they ruptured.
“My vascular surgeon thought it was time to try (surgery),” Barlow said. “So we did it. And it was a success. … It definitely gives me a few more years.
Barlow has described herself as “strong” in dealing with the disease compared to some of the people who have it – people who see it all as a death sentence.
She said she doesn’t blame others for being depressed by the illness because “it’s a lot to deal with, not just physically, but emotionally”.
“When you have five arteries rupturing on their own and nobody knows what’s going on…you can’t really explain that pain unless you’ve experienced it,” she said.
And, sure, Barlow worries about his condition from time to time, but it’s the simple joys in life that separate the good days from the bad.
“It’s the little things like my two dogs, the birds that are chirping right now, just the tiny little things,” Barlow said. “The sunset – my biggest dog, Bernie, he loves to sit here and watch the sunset at night. And that’s just one of the things that I’m like, ‘Oh my God, I like that.’ So literally the little things – I love traveling and meeting new people and trying new foods. … My vascular surgeon, she has a picture of me skydiving because she just wants (to let people know) that you can still live a life. I think a lot of people see it as a death sentence sometimes.
Barlow’s overall strength doesn’t mean she lives without moments when hope is hard to find.
“I will admit that when I’ve had really bad pain, I’m like, ‘Kill me now. But no, I mean it’s one day at a time, if not one minute at a time,” Barlow said.
To people who may not understand why a person struggles, Barlow said, “don’t judge a book by its cover. You never know what someone goes through on a daily basis. They might look good from the outside, but the inside is pretty crap.
For those who have vEDS, or think they can have it, Barlow said there is hope.
“There’s a huge community there, and the vEDS movement where you’re welcomed with open arms and asked whatever questions you need,” she said. “If you think something is wrong, keep asking for more tests or keep asking more questions. Just do your research, too.
To learn more or show your support, go to https://thevedsmovement.org/ or visit the Ehlers-Danlos Society at https://www.ehlers-danlos.com/.