The agony of finding decent health care for my young-adult daughter with Down syndrome

Several years ago, a local artist asked if she could paint my younger daughter, then a tween, as part of a series of life-size portraits of people she knew.

Monica Aissa Martinez really gets under her subjects’ skin — the final product is more medical map than pretty picture, documenting the elements (both scientific and ephemeral) that make a person unique.

In Sophie’s case, that includes the wide spaces between her first and second toe, the grooves in her tongue, and the twice-mended hole in her heart — all conditions associated with Down syndrome. Sophie said yes, and I was thrilled.

When she was diagnosed with Down syndrome at birth, my husband, Ray, headed straight to the hospital medical library and came back in awe.

“She’s like our own little science experiment,” he said as we gazed bleary-eyed at her sweet face.

Or, as I came to think of it, every single bit of Sophie — from her stick-straight hair to those cute gap-toed feet — is different from every bit of Ray and me.

So the idea of someone mapping Sophie was intriguing.

For this series, Martinez has painted several people, including her father, who had Alzheimer’s, and a dear friend shortly after a breast cancer diagnosis. The final products are evocative, unbelievably detailed. And not at all clinical, despite the emphasis on anatomy. Sophie chose her pose — arms high in the air, head thrown back, demonstrating the elegance honed by years of ballet lessons. She clutches a paintbrush in one hand, her signature, sensory item of choice.

Martinez is not a doctor, but her work is grounded in science, researched and thought-provoking. For several months, the portraits hung in the medical school at the University of Arizona’s campus in downtown Phoenix, and Martinez regularly lectures there.

I hope those students are listening. In almost 20 years, I have not seen a single doctor (and there have been a lot of doctors) examine my daughter as thoroughly, speak to her as respectfully, and document what makes her Sophie as carefully as Martinez.

The artist really saw Sophie. And as I wade through the medical system, looking for answers, it occurs to me that it’s one huge thing that’s missing. These people do not see Sophie.

Down syndrome is the most common genetic difference, and thanks in large part to advances in pediatric cardiology, life expectancy is climbing. In 1960, according to the CDC, the average was 10 years old; by 2007, it was 47. The most common medical story around Down syndrome is really about a different condition: that third 21^st chromosome is connected to the plaques on the brain that cause early onset Alzheimer’s disease. People with Down syndrome have been key to some really important research that could affect all of us.

So when doctors talk about Down syndrome, the focus is either on infants’ hearts or old people’s brains.

What about the years in between?

As a kid, Sophie’s health care was hit or miss. The cardiologists fixed her heart and an endocrinologist prescribed thyroid medication.

But then there was the pediatrician who wrote Trisomy 23 (rather than Trisomy 21) on a prescription for speech therapy.

And the eye surgeon who kept putting her under for tear duct surgery she deemed necessary. (It wasn’t, I later learned).

The one that haunts me was the response from the child psychiatrist when I told him Sophie’s cardiologist didn’t think her heart could withstand the stimulants he wanted her to take for ADHD.

“You need a new cardiologist.”

I followed his advice immediately. But more than a decade later, I still lose sleep over that one.

But as with just about everything else — school, employment, housing, friends — health care is even harder now that Sophie is an adult.

In so many ways, my daughter will never quite grow up, and I’m not just talking about the fact that she’s topped out at 4’5”. She’s not likely to Google (and understand) a medical condition or give a doctor much detail about what’s going on with her body. At the same time, understandably, she doesn’t always want her mother in the exam room.

Nevertheless, I go in. I’ve learned the hard way — after a visit to the eye doctor — that I can’t send her into that kind of a lion’s den without me. It’s too bad, because Sophie might not have a ton of medical experience but she can speak for herself. And she’s no dummy. Not long ago, a dermatologist (the fifth doctor we’d seen about an impossibly red, itchy head) prescribed an oil to put on her head.

“Mom,” Sophie said, reading the label, “I can’t use this. It says not to use it if your skin is broken.”

She wanted to know why the doctor would have looked at her raw, scabby scalp and given her this oil. I wanted to know, too.

Instead, I started looking for another dermatologist — it’s on the list after a new ophthalmologist, endocrinologist, and primary care physician.

We are lucky Sophie is so healthy (knock wood) and that she’ll see the pediatric cardiologist her whole life, since her heart defect is congenital.

But what am I going to do when she needs a pelvic exam?

I was grappling with all of this when I met Kathleen Muldoon. She more than gets it. Muldoon teaches anatomical science to medical students, currently at Midwestern University in Glendale, Arizona.

Nine years ago, she was teaching on the East Coast, pregnant with her second child.

“My content area of expertise in anatomy has always been embryology. The development of people in utero — embryos and fetuses — and the way it typically goes. And the way that it atypically goes.”

So it only made sense to include herself and her soon-to-arrive son in her lectures.

“When I was pregnant with him, my whole pregnancy followed the course of the content I was teaching. So I was like, ‘Here’s the four chambered view of my baby boy’s heart. Here’s what his liver and spleen look like right now.”

Right around the end of the semester, Gideon was born and pronounced “normal.”

That changed pretty quickly.

“Within 18 hours all hell broke loose,” Muldoon says. Gideon was diagnosed with cytomegalovirus, known as CMV, a very common virus very few people know about. Muldoon had never heard of it.

Most people who get CMV never know they have it, but if it’s contracted during pregnancy, it can significantly affect the infant. Gideon, now 9, is deaf-blind and uses a wheelchair.

Muldoon’s whole world view changed, particularly when it came to the medical profession. She wandered the NICU at night, when Gideon was sleeping, watching the babies where everything went right and where it didn’t, just as she’d taught her students.

She looked at all of the babies and, she recently told me, thought, “‘These are not diagnoses. These are people.’ And I tried to reframe my teaching in that way, but that is not the standard view in medical education.”

Part of it is the reality of a broken profession.

New doctors, she said, are “released into a system where they have 15 minutes with every patient. They have huge debt loads. They don’t want to do the extra training to make people comfortable. They don’t wanna take the extra time — 30 minutes instead of 15 — to get the full picture. They don’t want to take Medicaid ’cause they get reimbursed at best at like 50%.”

It’s not just that. There’s a profound difference between being sick and having a disability, Muldoon says.

“People want a cure. They have fixer mentalities, right? They want to come in and they want to cure. They don’t want to think about something that’s messy. I totally think the issue of chronic medical conditions or any kind of disability is outside the current paradigm of how we’re training medical students.”

I’d never thought about that — and now I can’t stop.

The other day during a mad Googling session I learned there’s a clinic in Massachusetts for adults with Down syndrome. They’re not taking new patients, but do offer a service where they’ll give you a second opinion online, for a fee.

Clearly, my family is not alone. My hunt for good medical care for Sophie continues. We live in the fifth largest metropolis in the country, home to a branch of the Mayo Clinic and other premier health care institutions. How hard can this be?

Likely impossible. These doctors don’t see Sophie. Not the way Monica Aissa Martinez does.

And the hardest pill to swallow? I’m not so sure they want to.