One mother’s story: How rare disease changes your life

dattolifamilyI opened the door to my 10-year-old daughter’s bedroom on a bright October morning. It was a Friday—her “best day” as she called every Friday—and when light poured into her purple room, I thought her swollen mouth was one more symptom of the nasty cold and cough she’d been battling. The antibiotic would kick in soon.

When my daughter looked worse the next day, I took her to her pediatrician, who sent us to the emergency room. A virus, we were told. Come back tomorrow if anything changes. It did: Her eyes were red, she had a fever, and her mouth was blood red and much more swollen. “A bad virus,” the ER doctor told us.

By Monday morning, my daughter had even more sores in her mouth and red spots on her back. Her fever spiked at 104. We rushed to the pediatrician. “I never thought I would have to say this, because it’s just so rare,” the doctor said, “but it looks like Stevens Johnson Syndrome (SJS).”

Suddenly, weeping and scared, we had entered the world of rare, dangerous diseases, in this case a severe allergic reaction to the antibiotic Bactrim, which contains sulfa. SJS is a serious disorder of the skin and mucous membranes that occurs in one of every 2.6 million people. Only 20,000 cases worldwide are reported each year.

My daughter was admitted to Boston Children’s Hospital. With each passing minute, new, painful red bumps were taking ownership of her skin. Her ears. Neck. Back. Legs. Feet. Hips. Chest. Arms. Fingers. I wanted a magic eraser to wipe them away. The nurse pulled me aside. “I’ve only seen SJS in one other patient in my entire career,” she said. “I just want you to know that it will get worse before it gets better. You need to prepare yourself.”

How was that possible? How could I prepare myself and my family for what was coming? I will never forget that nurse and the kindness of her blunt honesty.

That evening my daughter’s fever hit 105. Her body was smothered in creams, her arms stuck with needles for medications. She was on morphine to ease her pain. Worse than that, vision-threatening ulcers were forming on her corneas.

I did the worst thing a parent can do. I Googled the syndrome. Never do this. It will destroy you. The nurse had a better approach. She handed us helpful, printed information.

There is nowhere I’d rather have my child face a rare disease than Boston Children’s. Jason Mangatos, MD, an ophthalmic surgeon with Boston Children’s department of ophthalmology, saved her vision with amniotic membrane transplant surgery on both eyes. He wrapped preserved human amniotic membrane around my daughter’s ocular surfaces to restore cells and avert devastating damage.

The transplant was a success, but my daughter was nowhere healed. She did not resemble the bubbly, bright-eyed girl who loved Fridays.dattoli3

It’s been nearly four months since we brought our daughter home. She eased into school for three weeks, going to class for mornings only. She’s back in school full time, but she can’t yet exert a lot of energy and can get weak rather quickly. Her body went through an incredible trauma, but she looks like my little girl again. It will take close to a year before she fully recovers. Slow and steady will always win the race—a motto that she now lives by.

My intention is not to instill fear about giving your children medication. My daughter still takes medication and will likely live her life not afraid of medicines. I simply want to shine a light on a very rare disease and encourage families to educate before you medicate.

Knowing that we battled a rare disease has truly changed our perspective on how we approach each day. We don’t sweat the small stuff. We take things slowly. We don’t measure how our daughter is doing compared to other kids her age. Put simply—we live each day as it presents itself to us. We relish the good days and try to learn from the bad—but Fridays are still her absolute favorite.