essay and photos by JENNIFER BISHOP

Every two years, I attend a conference for people affected by my son’s genetic syndrome. Doctors and scientists participate, joining families with affected children of all ages and abilities. Some can walk and talk or use sign language, others can’t. Many suffer from seizures, heart disease, and full body skin rashes, and depend on g-tubes or wheelchairs. Almost all of them laugh or smile.

Friends ask me, “Why do you go?”

The reasons to stay home are clear enough: time, money and energy are especially finite for the parent of a child with a rare condition…plus I’m basically shy. Wouldn’t it be more fun NOT to dwell on the realities of his irreversible condition? Having attended past conferences, could I have anything “useful” left to learn?

Still, I am surprised by the original question, and sad that the answer is not universally understood.

Rare condition, common bond

You never step into the same stream twice, as the saying goes, and this is certainly true of our conference. Although there are familiar faces– families and doctors who return every two years– the experience is always new and bracing. It calls me to reach both inside and outside of myself, and each time, I am glad I did.

The 2009 conference brought to San Francisco families and doctors from all over the world; and it recognized the consolidation of four rare syndromes (including my son’s) into one category – the “RAS-opathies”- which now forms the largest existing genetic disorder.

There is power in numbers, as the ebullient Dr. Kate Rauen points out in her presentation. And with such numbers as the Rasopathies now possess, and pre-existing research on this pathway also know as the cancer pathway, possibilities exist for clinical drug treatment trials. These drugs could improve quality of life for future children born with the disorder, and perhaps open new ways for medicine to treat other genetic disorders. All it takes is enough people getting together and sharing information.

I have seen measurable progress on the scientific front throughout the duration of just three conferences. The accomplishments include collecting and banking blood from the 24 children who attended the 2005 conference (which led to the gene discovery by Dr Rauen in 2006) and the discussion of treatment trials for a larger affected population. The energy driving all this progress is generated by both the doctors and a small support group, under the guidance of one mom – a special ed teacher – and with the contributions of a few dozen families. The importance of furthering research and helping children born with a disabling condition is abundantly clear to me, and exciting. Going to the conferences, and submitting medical information on our children, is a way to be part of something larger than myself.

But that’s probably not the real reason I go. Yes, as my son’s mom, I go to learn and participate. But as a photographer, I also go to observe. And what I see brings me back deeper into my own experience as a mom.

Powerful moments
Picture this scene from a conference clinic exam: a beautiful, young baby with a killer smile is propped up on a round table, encircled by its proud and worried parents and several doctors from all over the world. As the doctors scrutinize this baby with interest both kind and serious, the room is silent, as if the combined weight of thoughts and feelings surrounding this tiny child is more than the glass-walled room can bear. There is no room for sound, and nothing enough that can be said.

What would you like to ask us, the doctors finally offer. Then the new mother’s plaintive question: Although the gene test came back positive, could there be a mistake? Could it be a different syndrome?

These parents have good reason to wonder and seek answers, but the question brings me back to my own early doubts. I hoped the same thing when my baby was small. This is a club nobody chooses to belong to. And the conference, bringing together so many ages, stages, and expressions of the same wounded gene, puts a lot out there for the new parents to take in. I wondered once, too, was my baby, seemingly full of unexpressed potential – a mystery as all babies should rightfully be – struggling to grow, only to face so many devastating medical and developmental challenges?

I can only imagine what the doctors might be feeling. They have taken time out of busy schedules to travel, and meet and talk with these families, not only in clinic but at meals, in the hallways and elevators. The conference is a singular opportunity for them to see many affected children at once. Yet, often there are no answers to offer the parents. Each child is different, and stands to teach something new to everyone – doctors and parents alike.

The young parents are probably relieved to hear this, remembering that their baby is still really only their baby. A syndrome does not claim the individual, even though the shared traits are observed. Documenting those shared traits builds the power in numbers Dr Rauen celebrates.

Although these doctors have dedicated their lives to studying this disorder, they do not live with it the way families do. There is a tacit trust between doctor and patient. Both choose to be here in the same room, to learn from each other. But they inhabit different realms within the room. And maybe the only thing shared equally by both parties is respect for the mystery – the understanding that neither knows what might be learned by such a meeting.

Picture another clinic exam: this one makes history. All the specialists are meeting in one room with the oldest living person with this syndrome. I am moved by the gathering of these people in this time and place. And even more, by the dignity of these two parents in their 70’s. They laugh easily and share the details of their daughter’s weighty medical history as she explores the room. Although non-verbal, she is playful with the doctors, trying to pick up their clipboards and coffee cups. Her parents have one eye on her always. I have seen them guiding her down the hallways of the hotel; it takes both of them to bodily direct her from mischief.

As she and the doctors exchange curious smiles, there is a deep sense of awe for the rare and special person everyone in the room knows she is. And I feel the gulf between doctor and patient is filled with respect for human strength of all kinds – the abilities of intelligence, knowledge and medicine, and the resilience of a life force that can upstage suffering.

What stays with me
Everywhere at this conference, I see small, unforgettable moments, some of which I can catch with my camera. Teenager Cliffy holding his dad’s hand. Jamie’s hand-and-face dance in the light from the projector. Jack’s infectious smile. Emily wolfing down scrambled eggs, with constant help from her dad, who also happens to keep old footballs and sporting equipment in his car in case anyone wants to play (my son did). Amara, whose face lights up at her dad’s voice. Jessie who hugs the bigger girls. Avery trying to catch a patch of sunlight in his happy fingers. Mothers and fathers from other countries sharing photos of a child who could not attend- because they are too medically fragile to travel, or in the hospital. Each of the 44 families present has their own story worth hearing and seeing.

When I put the camera down, I recognize the same deer-in-headlights look on the conference photographer Rick Guidotti‘s face, that I must have . . . because we are witnessing in each family a stream of unconditional love, the sheer wattage of which could light up the hotel without any help from Pacific Gas & Electric. And the energy of these families reminds me to find my own spirit inside.

That’s the kind of power in numbers I go for.

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LINKS:

From the conference, on consolidating rasopathies.

About Kate Rauen’s work.

Rick Guidotti’s “Positive Exposure” project.