Ohio woman with disease takes 'each day as it comes'

BY BETH WHITEHOUSE | beth.whitehouse@newsday.com

When Jen Johnson told her future husband about her Diamond Blackfan anemia, he didn't know what she was talking about.

Jen didn't look ill. How bad could the disease be?

"I don't think at that time I fully understood what it was and what it all entailed," Jim Johnson said during an interview in the couple's living room, with their Jack Russell terrier, Lulu, dodging in and out of the room. "You can't tell by looking at her that anything's wrong. Day to day, you can't tell she's sick."

But she is.

Jen is 25. She has received blood transfusions since birth to keep her alive. Now, they come every two and a half weeks. Nurturing a budding relationship, it was months before she let Jim see her having a blood transfusion.

"People come into the situation, with a big bag of blood on the pole; it can be a little overwhelming," Jen Johnson said.

Disease's impact

The disease, diagnosed when she was a baby, has taken its toll. Since the summer of 2006, Johnson has had hip replacement surgery in both hips, which were likely damaged by the steroids she took when she was younger to try to put her Diamond Blackfan anemia into remission. It could also have been experimental drugs she took later to try to tame the illness.

More ominously, she has cirrhosis of the liver. Like most Diamond Blackfan anemia patients, she had long been connected five nights a week to a pump that sent the drug Desferal through a needle into her body in an attempt to eliminate the iron buildup that is a liver-damaging side-effect of the disease. When she was a teenager, she sometimes skipped the protocol.

"You want to go out with your friends and hang out. You want to be able to go to a sleepover," she said. "Your friends could stay out till midnight." Instead, she'd have to get home early to get her eight to 10 hours on the pump.

Plus, sticking herself with the needle in her stomach every night hurt and formed a tough callous that made inserting the needle even more painful.

"Nobody wants to inflict pain on themselves," she said. In part because she didn't always take the drug, iron built up even more quickly in her liver. Even with the diligent use of Desferal, iron in a Diamond Blackfan-afflicted patient also builds up in other organs, including the heart, and eventually can cause death.

Trying a new drug

Even with a new Alka-Seltzer type pill that Jen recently began taking to replace the pump, Jim Johnson worries that the new drug may not be as effective. The pill, called Exjade, improves quality of life of Diamond Blackfan anemia patients, but in Jen Johnson's case her iron count hasn't diminished significantly and her doctors have told her they may increase her dosage.

"I worry about the life expectancy . . . Is there a liver transplant in her future?" said Jim Johnson, 27. "Is she going to have heart problems at 35 and we just don't know it? If we have children, is she going to be around when she's 50, or am I going to be explaining to my kids where mom is? It concerns me a lot. I don't talk to her about it a lot because I don't want to make her upset."

Jen's eyes teared as she listened to her husband. "I've got to take each day as it comes," she said. "I can still go to work. There are plenty of people who can't. I just don't feel like I'm ill. Then I don't know if I'm in denial . . . I very well may be."

Her life is not centered around the disease. "It's part of my life, but it is not my life," she said. She works as an operations coordinator in the same company where her husband is a financial planner. They are big Ohio State University football fans.

Living life to the fullest

They like the outdoors, though they can't do as much hiking as in the past because of her hip surgeries. They like going to art festivals and movies. This afternoon, they planned to go to her parents' house to help with a kitchen remodeling project.

They do talk about starting a family. If they go ahead, they plan to use preimplantation genetic diagnosis to test their embryos for the disease and select ones that don't have it.

"Are we going to bring a child into the world with this illness? No way," Jim Johnson said. "Jen is a strong woman, and very tough, and has really taken this whole thing in stride. I don't know how well I would take it. Maybe I'd still be bitter and angry at the world. Who knows if your child is that strong?"