Struggles, triumphs, lessons from raising—advocating for—my son
“He’s still the same person you brought home from the hospital.”
My son’s first pediatrician said that to me and my husband, Matt, when he sat us down to let us know that the tiny baby I was holding in my arms had Down syndrome.
Henry was just a few weeks old at the time. Initially, the doctor thought this diagnosis was unlikely. When we spoke in the maternity ward, he indicated that Henry—who’d made his debut about three weeks before his due date—didn’t have most of the classic signs, including a single crease across his palm. Confirmation would have to come from a blood test.
That took weeks. Two agonizingly long weeks.
During that time, my mind raced. I knew a positive result would mean having a child with a learning disability, but that’s about it. I’d never known anyone with Down syndrome. In fact, though I’m ashamed to reveal this, I had never even met anyone with it.
I’d come to find out that Down syndrome is a genetic disorder caused during conception by the formation of a third copy of the 21st chromosome and that the clinical terminology is trisomy 21. I also learned that the D in Down is capitalized because the condition is named for John Langdon Down, a British doctor who studied it back in the 1800s.
But those details seem inconsequential now. More important: I had no idea that Down syndrome often is accompanied by a host of medical issues or that I was about to begin the most challenging and rewarding journey of my life—being a parent of a medically fragile child with a developmental delay.
In honor of World Down Syndrome Day (March 21), after many years of contemplation, I’ve decided to share a small window into my family’s struggles and triumphs to perhaps help other kids like Henry who are overlooked in the medical and educational realms.
But first, some background
About a year after Matt and I got married, we started seriously considering having a baby. I was 35 at the time, and I remember going to see my gynecologist. I'm not sure that's a thing other people do before trying to get pregnant. But for me, when it comes to major decisions—say, buying a car or a house—I'm cautious. Really, I was there for peace of mind. You know—to get a check-up to make sure all of the parts were in working order.
When the doctor came into the exam room and saw me reading a pamphlet on conception for older women, he chuckled and said I wasn't in that group. After a few tests, he gave me the green light I'd been hoping for. Within a few months, I was expecting.
Partway into the pregnancy, though, something wasn't right. I started having early contractions and, during a few trips to the hospital, Matt and I learned through tests that there were indications—“markers” in medical parlance—that something was wrong with the developing fetus.
There were three of them, including short femurs (thigh bones). The caveat was that sometimes these so-called markers end up being nothing at all.
I was referred to a laboratory in Sacramento that had more sophisticated ultrasound equipment—where the indicators were verified and amniocentesis was suggested. (That's the test where a needle is inserted into the womb to collect amniotic fluid for genetic testing.) That afternoon, Matt and I spoke with a genetic counselor on-site. She asked questions about our family and medical history. The outcome: We were not at a greater risk of having children with birth defects.
At the time, amniocentesis was one of only a few surefire ways to get a diagnosis. But because of the slight increased risk of early labor, and the fact that I was already having contractions, we decided against it.
On a Saturday afternoon in October, about three weeks before my due date, I visited the downtown farmers' market and hours later went into labor. Right around 4 a.m. Sunday, I was holding 5-pound, 2-ounce Henry in my arms.
Fast-forward two weeks and a life-changing blood test later, and Matt and I had a lot more on our plates than being new parents.
Crisis after crisis
Not long thereafter, we received a referral for Henry to see a roving pediatric cardiologist who visited Chico once a month. As we learned, children with Down syndrome are prone to heart conditions. An echocardiogram confirmed that Henry had an atrial septal defect and multiple ventricular septal defects—holes in the walls between the heart's two upper chambers and lower chambers, respectively.
Fortunately, they were small enough that the doctor was confident they would close on their own. Otherwise, we'd have been looking at open-heart surgery.
After that wave of relief, however, we were overwhelmed by one medical crisis after another.
As first-time parents, Matt and I were in and out of the pediatrics office quite often. Looking back, I'm thankful about the paranoia.
One weekend, after having been to the doctor days earlier and getting a diagnosis of a cold, 18-month-old Henry became lethargic. We rushed to Immediate Care and learned, after an X-ray and additional tests, he had not only pneumonia but also influenza.
The treating physician was extremely straightforward about the risks associated with pneumonia. It's nearly always the cause of death in kids with Down syndrome, he told us.
That encounter made us extra protective and taught me to trust my maternal instincts.
Over the next couple of years, we ended up in Enloe Medical Center's emergency room at least three times in the middle of the night, when urgent care centers are closed. Without exception, Henry was diagnosed with pneumonia. It was the “sneaky” kind, we were told. What was seen by X-ray couldn't be heard using a stethoscope, doctors explained.
Each time, the symptoms appeared suddenly. Within hours of seeming like his typical smiley self, Henry would turn into a rag doll, ribs showing as he labored for air. After treatment—typically IV antibiotics, a steroid injection and breathing treatments—he'd perk up almost as quickly as he'd crashed. Yet, had we not been attentive, it could have gone the other way.
Every runny nose and fever put me on edge. Matt and I filled our medicine cabinet with rinses, ointments and various nasal aspirators. One was a bizarre, straw-like contraption with a mouthpiece designed to suck out snot.
We became frequent fliers at multiple medical offices, including specialists such as a local otolaryngologist, James Lacey (an ear, nose and throat doctor who has since moved out of state). Henry was diagnosed with several respiratory-related problems, including sleep apnea and chronic congestion.
Minor procedures for blocked tear ducts and hearing loss took place when Henry was still an infant. A month after he turned 2 years old, we spent a few nights in the hospital after a tonsillectomy and adenoidectomy. The surgeries alleviated the issues to a degree. Still, more often than not, he had a runny nose.
Little did we know that more serious medical issues were ahead of us.
During those first years, a near-constant stream of traffic paraded in and out of our home. That's because Henry's Down syndrome diagnosis qualified him for early intervention—services such as physical therapy, nutrition aid and speech therapy. We were grateful for the expertise and support of these professionals, provided mainly through the Butte County Office of Education and Far Northern Regional Center, but having three or four people in and out of the house each week was exhausting.
Over time, we became quite fond of these folks.
One of them, physical therapist Marsha Ellsberg, noticed that one of Henry's feet wasn't flexing as it should.
It was odd for a number of reasons, including that kids with Down syndrome tend to have low muscle tone and therefore are floppy. That makes it more difficult for them to reach developmental milestones, such as rolling over, crawling and walking. Indeed, Henry wasn't able to walk unassisted until he was nearly 2 1/2.
His pediatrician wasn't too concerned initially. That changed over time, when we noticed his gait becoming rigid. For some reason, Henry's knees stopped fully extending. As a result, he hunched forward and to the side. Meanwhile, a lump started forming on his inner left foot, and other limbs tightened as well.
Henry's neck seemed stiff a lot, especially if he fell asleep with his chin on his chest. During long drives, I turned around in my seat constantly to reposition him for fear that he'd wake up bawling. We took the same tack when Henry fell asleep on bike rides through Bidwell Park—Matt would reach his hand back to keep him upright in his seat.
Crying was the main way Henry communicated with us back then. At first, Matt and I disagreed on the message.
What I heard was that he was hurting, whereas Matt believed he was tired of being confined . Frustrated and stressed out, we'd argue about it every time we contemplated a trip out of town. Our solution was making a lot of pit-stops so he could stretch.
Matt took the lead on getting through the labyrinthine medical bureaucracy to get to the specialists—a local orthopedist and podiatrist, among others—we hoped would solve Henry's mysterious developing issues.
On Henry's third birthday, he started attending preschool at Chico Unified School District's Loma Vista School, which enrolls kids with developmental delays and other qualifying disabilities.
About a month before that, he also began attending Innovative Preschool, a private nonprofit preschool located on the same campus. (Both now share a new site around the corner, on Manzanita Avenue.) Innovative looks a lot like a typical day-care center—filled with both educational supplies and toys—but is an inclusion program that brings together typical kids and those with special needs.
Some children attend Innovative through its partnership with CUSD. Others enroll there as they would through other private preschools by paying tuition.
Initially, Henry spent mornings in a Loma Vista class—a wonderful environment with a great teacher and support staff—and afternoons at Innovative as a private preschool enrollee. Later, he spent full days in the blended Innovative setting, learning from CUSD teachers during Loma Vista's school hours and then supported by Innovative staff the remainder of the day.
Curriculum was guided by an individual educational plan—commonly referred to as an IEP—that included not only educational benchmarks but also goals related to physical abilities, such as dressing oneself and strengthening mobility. By then, Henry had begun refusing to walk more than very short distances.
The inclusion classroom model prepares attendees for elementary school while also teaching them to celebrate each other's differences. For us, though, there was so much more to it.
Our family became very close to Innovative's staff, all of us dedicated to supporting Henry. I'll never forget when one of them, then-Site Supervisor Colleen Ehrhart—or “Leen-Leen,” as Henry would say—showed up unprompted to the Chico Buddy Walk, a fundraiser for programs for kids with Down syndrome. She was there for our little family that day and throughout her tenure with the program.
Like other adults, she was bewitched by our sweet social butterfly with the impish grin. Beloved on campus, Henry was, and continues to be, quite a charmer. He also has a rather mischievous side.
According to Innovative Executive Director Cate Szczepanski, he is the longest enrollee in the history of the program, which allows kids to attend until they start first grade.
We also became close with another staffer, Andie Headley, whose relationship with Henry actually predated her employment there. Headley first met him as a respite provider through the Arc of Butte County. Funded by Far Northern Regional Center, the service allows parents or guardians of people with disabilities to hire short-term caregivers, kind of like a babysitter.
Parenting kids with special needs can be stressful and isolating. When Matt and I finally started using our respite allocation, after years of contemplation, we realized how reclusive we'd become and how much we needed a break. Headley came highly recommended from the daughter of one of Henry's service providers—she ended up being a godsend, a true friend to Henry as well as Matt and me.
Letdown in Sacto
In those early years in the academic setting, I could tell that certain educators frowned upon the fact that I often carried Henry. But whatever physical burden I may have endured from lugging him around was nothing compared with the weight I felt in my heart after future diagnoses that took years to uncover.
Once we'd exhausted the resources in the local medical community, we were referred to a children's hospital in Sacramento that we'd visited when Henry was an infant. This time, he was placed on a waitlist for a pediatric orthopedic surgeon.
It took six months to see the doctor, and the outcome was disappointing. After all that time, we basically were told that Henry probably would grow out of his ailments, including a bunion. If he did not, we were informed, surgery would be an option when he was much older. He was about 3 1/2 years old at the time.
We were skeptical and irked, because we believed there was more to the story. What irritated me further was the impression I got from the specialist that Henry's issues—his rigidity and abnormal gait—weren't interesting enough to warrant his attention. We left feeling dismissed and defeated.
Two years later, we returned to the hospital. Henry's condition had worsened, especially his neck. He was talking better by then and had explicitly told me that it hurt. That finally piqued the doctor's interest. Matt and I were polite, but we also were assertive about Henry being evaluated further. An MRI was ordered, and we learned that he had atlantoaxial instability, also known as upper cervical instability, a condition that put him at increased risk of spinal injury.
We absorbed the news with mixed emotions. On the one hand, after believing all along that something was seriously wrong, we finally felt heard. On the other, any sense of vindication was quickly replaced with terror.
That's because, in terms of medical intervention, the news was grim. The pediatric neurologists who were sent in to see us explained that surgery came with huge risks—a 20 percent mortality rate for people with Down syndrome, not from the operation itself but from the recovery.
We again returned to Chico deflated.
Henry was already at risk of falling, but now we knew that a bad spill could be devastating. Cue more anxiety about his well-being. But there wasn't much we could do other than protect him as best as possible. The diagnosis was added to Henry's individual health care plan at school. It called for, among other things, direct supervision at all times. We also had to shield him from other little-boy things that were too risky—sports, rough housing, bounce houses and big playground equipment.
It's why we've had to skip birthday parties at the local gymnastics club and trampoline park.
It wasn't long after the diagnosis that Henry transitioned into the greater Chico Unified elementary school environment, where he spent two years fully immersed in the general education setting among typical peers.
A one-on-one aide accompanied Henry in the classroom, adapting curriculum and supporting him throughout his day, and his teachers were open-minded and kind. Even still, I know it wasn't easy.
For starters, Henry's continued physical deterioration often made him cranky and tired. He'd sometimes moan, place his head on his desk, or crumple on the floor and refuse to participate. Other behaviors stemmed from sensory overload.
He was fearful, for example, of the big, busy setup in the school's gymnasium on picture day. In previous environments, at Innovative and Loma Vista, staff guided him through the process in a smaller, quieter setting.
Henry's peers realized he was different for the aforementioned reasons. But having known him since day one, they became accustomed to quirks that presented distractions at the start of the school year.
The adults weren't always as flexible or adaptive, however.
For example, the school made no accommodations for him on picture day. Henry didn't get his portrait taken in either kindergarten or first grade and wasn't included in the class photo. That may seem like a little thing, but it's indicative of the bigger picture: how kids like him often aren't seen and thus get left behind.
We witnessed that at the school in the years Henry was there. Kids attending the special day class were segregated in a portable building isolated from the campus core. They didn't commingle to any notable degree—not even during recess—despite vast amounts of research showing that inclusion benefits all students, regardless of abilities.
But leave it to our boy to find his own advocates.
During Henry's kindergarten year, a classmate's father with mad Photoshop skills remedied the photographic omission. He used a picture I'd taken of Henry and replaced the background to match the one used by the school portrait company. He then replicated the whole-class photo parents get when they order prints, and surprised Matt and me with it one day after school. I thanked him and wept in my car.
Henry made his own way during those years. He had a lot of help from his wonderful aide, general ed teachers and even his classmates. He'd developed genuine friendships, which heartened Matt and me. That made the eventual decision to switch schools and opt for part-time inclusion all the more difficult.
Seen and heard
Henry's first-grade year was fraught with challenges, but it also resulted in a major medical breakthrough. Just weeks before the school year began, we had our first appointment at the Down Syndrome Clinic located within the Lucile Packard Children's Hospital, part of Stanford Children's Health, in Palo Alto.
Matt had worked so hard over the years to get referrals, set up appointments and wrangle with our insurance carrier. We'd heard great things about Stanford, but we didn't want to get our hopes up.
During that initial visit, just a few months shy of Henry's seventh birthday, he was seen by numerous clinicians—doctors, including trainees, and other medical experts. One of the first to examine him was a pediatric occupational therapist. After trying to flex Henry's limbs and fingers, she asked a question that none of the literally dozens of medical professionals we'd met had ever posed. “Has he seen a rheumatologist?” (That's a specialist for joint diseases.) The answer, of course, was no.
Among the many folks who met Henry that day was Kathleen Collins, a pediatric rheumatology fellow and one of the nicest physicians we've met on our long journey. Whether coincidental or causal, we've found that Stanford's doctors have superior bedside manners than those at the other major medical facilities we've visited. It isn't just their initial approach that's impressed us, but also the follow-through.
Collins examined him and ordered a battery of tests that confirmed Henry had advanced juvenile idiopathic arthritis. An autoimmune disease with no known cause, the condition causes pain, swelling and stiffness in the joints.
Next came a plan to control the inflammation, starting with an immediate course of prednisone, a steroid. Unfortunately, like others who experience negative side effects from the drug, Henry exhibited defiant behavior. We slowly weaned him off the medication before beginning a so-called biologic treatment called Humira, a weekly shot, as well as an additional anti-inflammatory medication.
After years spent navigating a complex medical maze, with so many dead-ends, Matt and I finally felt Henry had been seen and heard. At last, our precious boy—our only child—was given the care he desperately needed and deserved.
I'll never forget seeing Collins' eyes well up when she saw his progress after a few months. The treatment has been life-changing.
Over the past 20 months, the swelling in his joints decreased, greatly improving his mobility. About a year ago, for the first time in Henry's life, he started running and jumping. He finally could act like a kid. Awaiting him in our backyard was untouched play equipment Matt had built when Henry was an infant, long before we knew what sort of journey lie ahead of us.
We've seen further progress in so many areas—improvements in fine and gross motor skills, speech development and literal height, as the disease had severely stunted his growth. “Mommy, carry me,” a phrase I heard so often, gave way to “Mommy, I did it!”
These days, more often than not, I'm chasing after him.
This past summer, after closely monitoring Henry's progress, Collins informed us that her fellowship was ending. She was leaving Stanford and heading to a children's hospital in her home state of Tennessee. We had one last appointment with her. It was a bittersweet goodbye filled with grateful hugs, lots of tears and hope for the future.
There isn't a perfect blueprint for parents when it comes to laying a path to ensure your children get what they need in the medical and educational realms. Chances are that journey will have many twists and turns. Among the many lessons I've learned thus far is that the greatest rewards come when you trust that you know what's best for them—and never give up.