The artist Edvard Munch created a painting 130 years ago that, in the despair it represents, could be parents Beau and Suzette James.
It is titled “The Sick Child,” and it depicts a grieving woman sitting bedside with an ill child. The scene has a forlorn sadness that has settled on the soul of the loved one like fine dust in a gloomy, airless room.
The symbolic child in the painting could be of the couple’s daughter, Maya.
We are sitting at the family room table of Beau and Suzette to talk about their struggle with their daughter’s illness. Maya is nearby, curled into an easy chair. She’s 13, and she watches me in silence. She has a strapping build, obviously athletic, or was, and still should be. Her left eye is slightly askew, which makes her stare a little disconcerting, but not after a moment. This is a child, after all.
I smile at her, warmed that she’s named after a friend of mine from years past, the poet Maya Angelou.
I had brought her a stuffed rabbit purchased on impulse at Rite-Aid; also, a bag of double-chocolate cookies, gluten-free. It didn’t work. Maya is super shy and wouldn’t talk to this stranger. I had researched some knock-knock jokes that I was told she likes. She wouldn’t even give me a “Who’s there?”
But that’s OK, really. What’s for her to say? She’s a seventh-grader with a rarer than rare disease that intends to eventually end her life if science can’t intercede with a life-saving drug.
Beau and Suzette are in their mid-40s and have made a pleasant home for Maya and three younger sons on Newport Avenue in Ocean Beach. He’s a staff lawyer for Qualcomm. She’s a businesswoman who changed careers to become a small-business manager — otherwise called a homemaker.
For the past several years, they have lived uncomfortably with the disease home invader. It looms darkly as its footsteps creak across their lives.
Maya’s predator is a form of Batten disease called “late infantile neuronal ceroid lipofuscinosis 2.” (You will not be tested on that.)
Stripped down to its bare ugliness, it’s a neurological affliction caused by a screwed-up gene. In that sense, it has similarity to Lou Gehrig’s disease, Huntington’s disease, multiple sclerosis and several other incubators of misery — and worse.
Only about 1,200 worldwide have it. Maya has a variation of CLN2 called “atypical TPP1 deficiency.” Only 23 persons in the world have been found to have that spinoff.
The TPP1 gene produces an enzyme of the same name. The enzyme is the villain in this story. A geneticist at Orange County Children’s Hospital, Dr. Raymond Wang, explains why in lay terms: “The enzyme’s job is to take out the trash from the nerve cells. When it doesn’t do its work, junk builds up in the cells and they eventually clog up and die.”
Wang says the best hope is gene therapy, which involves putting the proper information in the nerve cells so they can start making the enzyme on their own. He says gene therapy is being worked on, “but not yet” in terms of a breakthrough.
Both Beau and Suzette carry the renegade gene with its mutation baggage. In this scenario, there is a one in four chance of an offspring being afflicted. It was then that Maya’s disease was created and then laid dormant for the first few years of her life.
As Wang already told us, Maya’s affliction prevents the proper function of nervous system cells. The result is progressive and gradual impairment that can include slurred speech, loss of muscle power, seizures and mental and sight impairment. Maya has difficulty eating by herself, which can eventually lead to a nutrition tube. Life can be expected to end in the early 20s.
Were this even a few years ago, Maya would share a fate similar to artist Munch’s sick child: nothing to look forward to but an early death.
Responding to a signal from Maya that I miss, Beau walks over and helps her to her feet. Slowly, both guiding and giving her his strength, he slow-walks her to another room where she opens her laptop and puts us and our conversation behind her.
They all agree that a wheelchair is a useful tool at times, but not to be surrendered to.
The pressures on the Jameses are medical and financial, but also the drip-drip draining of emotional strength. A disease that seems to have no end will test the tensile strength of love in any family.
The couple’s three sons are sideline witnesses to the medical drama, but also participants in their own way. The parents have to deal with childhood resentments that understandably surface because of the attention that goes to Maya, sometimes at the expense of what would be normally theirs.
I ask the parents: How has this experience changed each of you personally?
Suzette says, “It’s definitely changed me. I was raised to be very independent, to always believe something good was going to happen. It’s that optimism that’s carried me; she isn't going to deteriorate. We’re going to get her back. That’s how I feel.”
She looks at Beau and adds, “However, there are days when I don't feel like that. … I usually don’t interact much on those days.”
Beau says, “It’s shaken me to my core. (Before) you’re just kind of going through life. Everything’s wonderful. Wonderful family, wonderful kids. You get married. You get a job.
“However, at some point, you question, ‘Why am I just doing what everyone else is just doing?’ Then this comes along and you have a chance to make a difference, a moment that could define purpose for you.
“This becomes our purpose — to help defeat this disease. In the worst moments, I think, if I’m sitting next to Maya on her death bed, I need to know that it wasn't in vain, because we’re making a difference for those (with this disease) who come after us.” He adds, “In her name.”
How has this experience changed the marriage?
Suzette is surprised. “It’s funny, no one’s asked us that question in all this time. I think the divorce statistics are like, really high, right?
Beau says, “It’s a roller coaster. Some days we’re both up, some days we’re both down. Some days one’s up, some days one’s down.
Suzette turns to her husband and says, “It helps me on those days when you’re up and I’m not. It does help. We just never say it.”
Beau nods and says, “I think we’re as close as we’ve ever been. We’re aware it can go the other way. … It’s hard, but it’s like when you're in this situation, your companion, that person you rely on, it gets stronger.”
“Thanks, babe,” she says.
The Jameses have traveled the country seeking help for Maya, thanks to the bounty of their corporate health insurance and income.
A reward for their efforts is Maya’s participation in a clinical trial that has given them hope. The experimental drug is Brineura, made by Biomarin. It was a hope her parents grabbed hold of like a governor’s reprieve.
The drug is administered through a port in Maya’s skull. She has been given it on a “compassionate” basis, which means it may not work, but it might give her a chance. Beau says they have seen a little progress in her symptoms.
Wang says there may have been cases of slight improvement in patients because of Brineura; perhaps degeneration can be slowed down or stopped until a cure can be developed.
When told that Beau and Suzette are looking for an eventual reversal of Maya’s symptoms, Wang is not encouraging. “If you have lost neurons or nerve cells, you cannot bring them back.”
He says of Maya’s parents: “They would go to the South Pole and back if it meant doing something for their kids.”
The geneticist concludes: “I think the future’s wide open on (Maya’s disease). In the past I would have told you the prognosis was very dim. However, I would say now that there is a lot of hope.”
Brineura received FDA approval just a few days ago. That is science’s imprimatur of effectiveness, or at least of possibility.
Because of their own burdens, Beau says they want to help others less able than themselves to do battle with the disease that’s stricken Maya, especially underprivileged people.
Suzette and Beau threw themselves into fighting CLN2 with the fervor of tent-meeting preachers. The fundraising and publicity efforts of their “Fighting for Maya” website have been purposed — not for their personal expenses, but to raise money for the cause.
Their kids’ school, neighbors, friends and even seatmates they’ve met on planes have helped with contributions and held fundraisers. Strangers have opened their homes to Beau and Suzette as they journey to doctor and researcher appointments in the Midwest and on the East Coast.
Their aim is to support a research effort begun last year at Texas Children's Hospital in Houston to seek better treatments for atypical TPP1 deficiency.
Maya’s fate is to be determined by scientific advances. That’s what it comes down to. But her chances can only be improved by her parents’ seeking and prodding, and making the medical establishment their personal proving ground.
And while they do all that, they hold hands. And they don’t let go.
Fred Dickey’s home page is freddickey.net
He believes every life is an adventure and welcomes ideas at firstname.lastname@example.org