Centralia Resident Finds Joys Amid Life With Rare Genetic Disease


Centralia resident Ann Barlow has died twice.

With a rare genetic disease called Vascular Ehlers-Danlos syndrome (vEDS), Barlow flatlined on an operating table in 2016, and then again just two months ago.

She has lived two years longer than doctors originally predicted.

“So I used to have this saying,” Barlow told The Chronicle. “I used to say, ‘You only live twice’ because people (say) ‘you only live once.’ And now I'm saying, ‘You only live thrice,’ so that's kind of been my motto.”

A connective tissue disorder, vEDS affects a type of collagen that works with hollow organs, arteries and vessels. It’s a defect of sorts in the COL3A1 gene.

“It's definitely fatal,” Barlow said. “Most people don't live past 50 with it. It's extraordinary if you are in your 60s or 70s with it. … I'll 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 the connective tissue in things like joints, leading to dislocations and double jointedness.

“But because (vEDS) affects a different type of collagen, things like the double jointedness don't really affect us,” Barlow said. “It's mainly our tissues on the inside that are super fragile.”

People with vEDS often have soft, see-through skin, thin lips, lobeless ears, wide eyes, a thin nose and are short in stature.

“Sometimes we blend in with the crowd, but it's funny … when you get a bunch of vEDS people around, you're like, ‘You guys — you must all be family.’” Barlow said.

Passed down genetically from a dominant gene of the parent a person inherits it from, vEDS has a 50% chance of passage to the next generation in a particular family. In Barlow’s case, she and her brother both got it from their dad.

Barlow was first told that only one-in-250,000 people get the broader Ehlers-Danlos syndrome, but since then, she said she’s heard anything from one-in-50,000 to one-in-90,000.

“I think it depends on really what type you have,” Barlow said. “I know in the state of Washington, there's just a handful of families with vEDS.”

Because vEDS is so rare, the research on it is just now picking up steam, Barlow said.

“We didn't know what my dad had for the longest time,” she said. “And it was just like, he had had complications throughout his life, like, his bowel ruptured when he was (in his) early 30s. I believe he had just married my mom. The doctor said his bowels were like wet tissue paper and (he’d) like never really seen anything of it.”

Then, one morning 30 years ago, he was diagnosed with the disease at the University of Washington Medical Center. He died from it when he was 49 on Dec. 12, 1994. Barlow had just turned 11.

After their father died, Barlow and her brother were analyzed for the illness by a doctor, who confirmed they exhibited the physical characteristics of vEDS. Her brother was tested right then and there, but Barlow refused the test until she was 15, when she was ultimately found as a positive case.

“I didn't have anything much to go on until I hit 21 and I had two internal carotid artery aneurysms just spontaneously,” Barlow said. “It mainly affects our insides, but there are some people, like my brother, who … has ruptured his Achilles tendon before.”

When Barlow was in her early 20s, she had two aneurysms in her internal carotid arteries, which are located just behind her eyeballs.

Barlow said that from her early 20s to about 2016, “I had a couple dissections, but I didn't know they were dissections. We actually thought they were ovarian cysts that had ruptured. So later scans didn't reveal that until much later. … And then in 2016, I started fainting.”

She said fainting is common for people with vEDS because their “vessels are kind of 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 that her renal artery had ruptured.

Doctors told her they needed to transfer her “ASAP” to some specialists. She’d had multiple arteries rupture or dissect.

“An artery wall is formed up of three walls, I believe,” Barlow said. “And a dissection is when one of those inner walls tears and the blood has a new pathway, but it hasn't broken out of the artery yet. It's not a bulge like an aneurysm is.”

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 surgery that happened two months ago where they replaced a section of her aorta and iliac arteries with a hose. The aorta is the main artery that runs from a person’s heart down their body, giving blood to all the other little arteries.

The surgery was major, and doctors first said they didn't think surgery, in general, was a good idea, given how intensive it would be. But she’d had several aneurysms as well, so a doctor said they needed to be taken care of before they ruptured.

“My vascular surgeon thought it was time to try (the surgery) out,” Barlow said. “So we did. And it was successful. ... It's definitely giving me a few more years.”

Barlow described herself as “strong” in dealing with the disease relative to some of the people who endure it — people who see it all as a death sentence.

She said she doesn’t blame others for being down about the disease because “it's a lot to handle, not just physically, but emotionally.”

“When you have five arteries spontaneously rupture, and nobody knows what's going on … you can't really quite explain that pain unless you've been through it,” she said.

And, admittedly, Barlow does get down about her condition from time to time, but it’s the simple joys in life that separate the good days from the bad ones.

“It's the little things like my two dogs, the birds chirping right now, just the little tiny things,” Barlow said. “The sunset — my biggest dog, Bernie, he loves to sit out here and watch the sunset at night. And that just is one of the things that I'm like, ‘Oh my God, I love this.’ So just literally the little things — I love to travel and meet new people and taste new foods. … My vascular surgeon, she has a picture of me skydiving because she just wants (people to know) you can still live a life. I think a lot of people look at it as a death sentence sometimes.”

Barlow's overall strength doesn’t mean she lives without moments where hope is hard to come by.

“I will admit that when I've been in some really serious pain, I'm like, ‘Just 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 that may not understand why a person is struggling, Barlow said, “don't judge a book by its cover. You never know what somebody is going through on a day-to-day basis. They might look okay on the outside, but the inside is feeling pretty sh-tty.”

To those who have vEDS, or think they may have it, Barlow said there’s hope.

“There is a huge community out there, and the vEDS movement where you're welcomed with open arms and ask whatever questions you need,” she said. “If you don't feel like something is right, keep asking for more tests or keep asking more questions. Just do your research, also.”

Find out more or give support by going to https://thevedsmovement.org/ or visiting the Ehlers-Danlos Society at https://www.ehlers-danlos.com/.