Rare Disease in the NYT

My phone started blowing up with texts from friends and family members yesterday morning, alerting me to a New York Times magazine cover story by Amanda Hess, “My Son Has a Rare Syndrome. So I Turned to the Internet” (gift link).

Hess writes beautifully about her experience being dropped into the medical maze and her urge to Google her unborn child’s diagnosis (Beckwith-Wiedemann Syndrome), despite a doctor’s warning not to. Happily, another doctor had more useful counsel:

“A pediatrician whom Marc contacted suggested that we consider joining a parent-support group. I searched for them on Facebook and requested access right away. When they unlocked their doors, I slipped inside gratefully. Just the size of the groups — they had thousands of members — steadied me. Parents shared stories, concerns and photos of their children, in sickness and in health. The groups were not straightforwardly reassuring. Often they coursed with uncertainty and pain. But they were comforting in a deeper way, in how they allowed me to redistribute the burdens of my private worries.”

– Amanda Hess

In my book, Rebel Health, I describe how connection is an antidote to suffering for people facing health challenges. Networkers who pool information and learn in community are essential members of the patient-led revolution for medical care. Recall how Dr. Danny Sands gave E-patient Dave deBronkart the crucial, life-enhancing advice to join the ACOR.org community focused on kidney cancer. But Hess points out that there are downsides to sharing online, especially on public forums like Instagram and TikTok:

“I saw how for an isolated parent, social media could be a way to connect, even grow an intimate community. But when a video went viral, the audience transformed. A mother could submit her child’s image to the internet’s awareness-raising machine only to watch an audience tear greedily through the pictures, performing repulsion and accusing the parents of seeking clout.”

– Amanda Hess

The walled garden of private Facebook groups can lull people into a false sense of security, too, of course, as Andrea Downing and the Light Collective remind us.

Since rare disease communities are where I have spent significant time as a researcher, I was worried about how Hess’s description of the “medical mom” archetype would land:

“She is a mother who executes at the highest levels. Simultaneously a long-suffering caretaker and a fearless combatant, she meticulously manages her child’s complex medical needs, documenting her family’s challenges and fusing her identity with her child’s condition. Her central struggle is fighting the medical establishment to get it to accept her unique form of expertise and reward her family with adequate care.”

– Amanda Hess

I mean, where’s the lie? Caregivers form the invisible infrastructure that holds together our health care system. And rare disease families often have to fight for recognition and research. But the next paragraph contains some zingers, such as:

“You can find her soliloquizing about her child’s struggle from the dark edge of a hospital bed, a front-facing phone camera illuminating her fatigued expression; or weeping in front of a dashcam in a parked S.U.V., her bewildered child just out of frame.”

– Amanda Hess

I’d love to hear what others think about the piece. Be sure to check the comments (up to 183 as of this writing) which are full of other first-person stories of rare conditions and how they navigated being a patient or a parent. Two favorites so far:

My daughter was diagnosed with a rare brain tumor at age five, followed by a successful but unusual surgery to remove it (which has led to lifelong physical side effects). I was careful with her private information and did not post online. But I did join several online parent support groups using a pseudonym. It was an unutterable relief to know that we weren’t alone, and I received amazing advice and support from parents who were in the same trenches as I. I wish this author and her son the very best.

– E in CA

And:

As a parent of a young child with a rare disease, I felt this deeply. The author expresses so well my own conflict of wanting to protect my own son’s anonymity and yet my strong desire to find connections to other families online as well as the very best treatments to ensure he is guaranteed the most positive outcome. I was especially touched by the experience she shares of the impact of all these medical tests on her child’s body and her lived experience. As much as I have myself entered into some of these medical groups for my own child’s rare disease, I’ve struggled with how I can prevent us from learning about all the negative outcomes – and I still daily brace myself for what I hope aren’t eventual, harder decision we might have to make either for (or with) him down the road.

– Kwajkid, West of Boston

I could not resist replying:

Consider asking a trusted friend to scan the relevant articles and communities for you, like a skilled research assistant. Tell them what you do and do NOT want to see. I did this for a friend and it helped her hone her questions for clinicians. No doubt an AI assistant can help with the literature review, but a human should join the communities and other online conversations (I think).

– me

Here’s the post I wrote about that experience: Case Study: Brain Surgery.

Your turn: What do you think?

Image: An ultrasound of a baby, captured by Amy Cluck on Flickr.