Tuesday, January 13, 2009

Tall order — Family on the mend after son survives massive aortic aneurism rupture

By Jenny Neyman
Redoubt Reporter

Three months ago, David Marshall was a pretty typical 23-year-old. He played a lot of video games, hung out with his friends, hoped to pursue a career as an artist, dreamed of having a big house and flashy vehicle, and basically lived day to day, until the day he had a broken heart and almost stopped living altogether.

Heartbreak is not an uncommon malady among 20-somethings. But for David, of Soldotna, who has Loeys–Dietz Syndrome, it meant he literally had a broken heart — a rupture in his aorta from his aortic valve all the way to his kidney.

Loeys–Dietz Syndrome is a genetic disorder discovered in 2005 that affects the connective tissue in the body. It’s similar to Marfan Syndrome — both afflict tall people with disproportionately long limbs — although Marfan’s usually involves other physical characteristics, like wide-set eyes or a cleft palate. Congenital heart problems are common among those with LDS, including aneurisms like the type David had Nov. 17.

“The way they described it is the glue that holds the body together is not strong,” said Julia Echeverria, David’s mother. “His heart got it first because it takes the most pounding. There was a little leak, then it blew.”

Echeverria moved to Juneau with her sons, David, now 24, and Ryan Marshall, 22, from California after visiting her uncle there 15 years ago and falling in love with the sense of community she felt in Alaska.

Both of her sons are tall — David is 6-foot-10 and Ryan is 6-6. She’s no slouch herself at 6 feet tall.

“We’re a big, tall family,” she said. “Everyone looks up to us. We clean places no one else cleans. People ask why we clean the top of the refrigerator — because we can see it.”

Both sons have the long limbs associated with Marfan’s and LDS, although Echeverria didn’t think anything of it while they were growing up, or even when the boys’ father died around age 40 after he’d already had a heart valve replacement.

David didn’t show any obvious outward signs of having the condition. He seemed to everyone, including himself, to be healthy.

In 2002, when David was 18, he was in a car accident and went to the Juneau hospital. While there, a visiting physician’s assistant from Canada noticed David’s height and limb length and figured he had Marfan’s.

“He looked at my son and said, ‘I can almost guarantee you have this disease.’ And we’re like, ‘We’re not even here for that,’” Echeverria said.

David underwent testing and the results were sent to a specialist at the University of Washington Medical Center. Even though they were concerned, they didn’t realize how precarious David’s condition was, Echeverria said.

“They knew his heart was not top-notch, but they had no idea this was going to happen,” she said.

LDS sufferers have a high risk of developing aneurisms. Medication can help alleviate the strain on arteries by reducing heart rate and blood pressure. Continued monitoring of a patient’s arteries is recommended to catch and monitor aneurisms. Beyond that, patients are told to take it easy. No competitive sports, no exercise that involves muscle strain, no activities that leave the patient winded.

“No basketball. He won’t be signing up for the NBA or anything. And he’s almost 7-feet-tall so they’d love him,” Echeverria said.

At first, Echeverria said she went into overdrive with all the energy she put into trying to keep David from expending any. It came to a head one day when he wanted to go sledding, and Echeverria tried to tell him no.

“He looked at me and said, ‘You know, Mom, I could have a long life and lie on a couch, or I can have a short life and a quality life.’ I finally said, ‘OK, but I’m going with you.’ So I grabbed a sled and we both went,” she said.

“In a way, I’m sort of glad I didn’t know earlier, because I wouldn’t have let him do anything,” she said.

Three years after the car accident, David’s diagnosis was changed to LDS, which moves more quickly than Marfan’s, Echeverria said. Doctors told Echeverria they should consider leaving Juneau and move somewhere closer to more advanced medical care because eventually, his aortic valve may rupture.

“They said, when this happens, don’t even call 911. Just hold him. He’ll go quick,” she said.

But Juneau was their home. Echeverria owns a four-bedroom house there, had worked as a social worker there for 15 years and enjoyed being part of her church community.
“I fell in love with Alaska. You know, when you go somewhere and feel like you belong. That’s how it was, so when they told us we had to go down south, we said, ‘But we want to be in Alaska,’” she said.

They knew they needed to move, but David was young and in otherwise good health. They figured they had time.

On Nov. 17, time was up. David went to bed Nov. 16 and felt progressively worse toward morning — chest pains, difficulty breathing and a feeling of increasing weight on his chest. When Echeverria went to check on David that morning, as she often did when he didn’t answer the phone, she knew something was wrong, but neither guessed the seriousness of the situation.

“I figured it was indigestion or a cold or something. I never had a concept that the valve on my heart was going out. It’s one of those things, you don’t want to think of the worst-case scenario,” David said.

They went to a doctor’s appointment, then to the emergency room. At that point it became a life-and-death imperative to get David to Seattle as quickly as possible.

“It was pretty much a death sentence for David, because it took so long to get to medical care and the hospital was inadequate. It’s just a small-town, community hospital. With the flight time, they said if we’d had weather, we’d have lost David. We were just very fortunate God was on our side,” she said.

In Seattle, David’s aortic valve was replaced and his aorta sewn up. Doctors told Echeverria if the tear had been a millimeter longer, David wouldn’t have made it.
“That whole day, I thought, ‘If one more person tells me he’s not going to make it, I’m going to snap,’” she said. “He’s got a purpose. He made it this far, so he’s going to be fine.”

They spent a month in Seattle while David recuperated. They didn’t know anyone in Washington, medical bills were piling up by the day and Echeverria wasn’t working while David was in the hospital. And now it was clear they had to move.

They didn’t want to leave Alaska, or live in Anchorage, so they settled on Soldotna. Central Peninsula Hospital is in town, and Anchorage is only a 20-minute flight away, if need be. Ryan had moved to the central peninsula, graduated from Skyview High School and made some friends here, and, as luck would have it, Echeverria’s brother and mother had moved to Sterling, giving the two an opportunity to reconnect and mend a family rift that had formed.

They stopped briefly in Juneau to pack up the house — donating or throwing out most everything she had and storing the rest, and trying to find someone to rent the house while it went on the market. So far, renters have fallen through and Echeverria’s thinking about just giving the house to the bank because no one seems interested in buying it.

They got to Soldotna on Dec. 20 with virtually nothing but suitcases of clothes. No car. No job. No furniture. No phone. No idea what they were going to do. Ryan’s friend, Joe Misner, and his family helped find them a place to stay and put word out in the community that help was needed.

It came almost overnight.

Suddenly Echeverria and her son had donated furniture, dishes, towels, food — even a brand-new bed big enough for even David to sleep on.

“I can’t even begin to say thank you enough,” Echeverria said. “I’ll be forever indebted to that whole family, and this community’s been awesome. I just cried. I didn’t know what else to do. I’ve never been treated this nice. And it’s hard times. That’s why when they were so generous it was so touching, because lots of people are having hard times.”

The hard times aren’t over, by any means, but they’re nothing compared to what they’ve already been through. Echeverria is looking for a job and hopes to be able to afford a car soon.

David is slowly recuperating, and adjusting to his new pace of life. He’s on a slew of medication, and will be on some of it for the rest of his life. He has to watch his diet carefully, can’t exert himself or raise his heart rate — even playing most video games are out — and can’t do much with his arms. He’s not even able to push himself up off the couch or lift a shirt over his head to get dressed. A gallon of milk is about the limit of what he can lift, and even a car ride leaves him exhausted.

“The hardest part of it is not being able to do what I want, when I want,” David said.

But he says he’s not angry about the turn his life has taken. Throughout the whole ordeal, David’s attitude has been a constant source of surprise among the medical community, Echeverria said.

“David’s a lovely, lovely, awesome person,” she said. “I’ve never met anyone who met David who didn’t think this, and I’m not just saying this because I’m his mom. He has a special purpose somewhere in life, because he’s still here. We feel very blessed.

“He has the best attitude. They said most people are so angry when this happens, and he’s just so happy to be alive.”

David does not see how he can’t be happy to be alive.

“I can’t complain. I’m happy to be up here. I’m just kind of focused on recovery and getting back to the other activities, like being able to shovel snow or walk the dogs, all the little things you take for granted. You wake up from the surgery and get a whole different game plan. It’s all for your health so I’m going to comply with it. All you do is to keep breathing a little longer. You really take it for granted until you don’t have the option,” he said.

After 18 years in social work, Echeverria said it’s easy to overlook how kind people can be. Not anymore.

“We’re so grateful for the Misner family, and the community had been really generous,” she said. “It really shows what kind of community Soldotna is. I think when you see the ugly all time you lose faith in the human race. This has just really renewed my faith in people.”

A donation fund has been set up in David’s name at Alaska USA, account No. 1433199.

No comments: