Roxie’s Big Heart and Rare Disease

Roxie died from preventable drowning at Summerkids camp. But she lived with a silent, deadly disease. She had a fraction of an immune system and two holes in her heart.

As we mentioned, Elena and I couldn’t quite figure out how to get this little girl into our lives. More than five years and three miscarriages later, the stars aligned, the sparkledust descended and we finally had a baby in the oven.

About seven months in, I was working late at night. Elena was sleeping in our bed behind me. All of a sudden I heard, “Whoa! Whoa Whoa!” And then…

The damn broke. So did the sweat on my forehead. Roxie was trying to race out of mom’s womb seven freakin’ weeks early. I packed a parka (it was 70 degrees), some mismatched socks, Graham Crackers and maybe a hand tool? Or Tupperware? Or a tire iron? I have no damn idea. But I sucked at packing that night. Except I did remember to pack my pregnant wife in the car. And off we went to Huntington Hospital.

Doctors and nurses said they didn’t want our baby to make such an early arrival. They tried to load Elena up with magical mystery junk to keep Rox from clawing her way out. But it didn’t work. She burst through a placental abruption, middle finger held high. And that was that. A three pound firecracker landed on mother earth.

Roxie rocked the neonatal intensive care unit. She looked like a gremlin and felt like a whisper. But she breathed on her own, chugged mom’s milk, smiled here and there and took a quick liking to her new digs…a plastic dome with lots and lots of blinking lights and beeps. We celebrated Christmas and New Years in a room steeped in hospital blah, with teenie-tiny humans who wouldn’t be able to blow kazoos, tip champagne and sing Auld Lang Syne for years.

But our beloved baby was in our lives, upon our chests, no longer in our imaginations. That was all we needed.

Every day, every night in that NICU, we pledged an ocean’s worth of promises to ourselves and to her. And five weeks later, the most important promise came to light. Carseat buckled. Baby cocooned in pillowy blankets. Excitement uncontainable. Next stop, home sweet home.

Oh my goodness, we are a family. Finally.

Month after month, we loved her with every ounce of our beings. Everything was sailing along at a perfect clip. Then we found out she had not one but two holes in her heart, otherwise known as Ventricular Septal Defects (VSDs). Our cardiologist told us he hoped they would heal on their own. Yet, he did mention the potentiality of surgery. Our nerves were frayed, to say the very, very least.

At 18 months, Rox had her first bout with Strep Throat. That’s miles from normal—far too early for a baby. We also realized that she struggled to stand while babies her age were motoring circles around her.

Then more illnesses. Then a bout with pneumonia. And another. And another. And five more.

Specialists eventually told us that, though Roxie’s gross motor skills delay made her unwieldy, it would right itself down the line. Her cardiologist also said that things were looking up. Her VSDs seem to be slowly but steadily closing. That was the good news.

The other news was not so good. Diagnosis: Immunodeficiency Disorder. Roxie’s body manufactured a fraction of the antibodies that she needed to live. It took us five years to hold our child. It took us less than four to realize that her future was far from certain.

We eventually realized that Roxie’s particular gene mutation was rare. The kind of rare that makes you rethink rare. It was the only reported case on the planet.

Nonetheless, we infused her at home every week with adult antibodies. We gave her breathing treatments two, three, even four times a day when needed. Battery after battery of blood tests and poking and prodding became routine. And that would never change. Not for the rest of her days.

But once again, Roxie ruled. She hugged her doctors. She found her way to happiness and stayed there for family, for friends, for strangers. And she was doing better. And better. And better. Life was so damn good for our family, despite the lurking ill. She was looking healthy. Feeling healthy. Running and jumping. Filling her own almost completely healed heart with joy. She was growing up. And it was beautiful watch.

Then one day, she went to Summerkids day camp.