Managing Rett Syndrome is a Full-Time Job

Christine Salerno with daughter Lily.

Meet 43-year old Christine Salerno. This single mother from New York City has just taken a 5-week leave of absence from her job managing a global team as head of corporate responsibility for a Fortune 250 company to spend more time with her daughter, Lily, who suffers from Rett syndrome.

Christine tells us more about this unknown rare genetic — but not hereditary — neurological disorder affecting brain development in 1 in 10,000 girls (almost exclusively) worldwide, and discusses the unique challenges that prompted her to take a hiatus from the coveted position she has held for nearly eight years.

HealthCentral (HC): What is Rett syndrome?

Christine: Most people confuse Rett with autism — as even Lily’s doctors did initially, given her loss of language and emotional withdrawal from the outside world. However, while the behaviors are similar (especially at the onset), this is an entirely different beast. Imagine the symptoms of autism, cerebral palsy, Parkinson’s, epilepsy, and anxiety disorder all in one little girl. This is Rett syndrome.

HC: How and when was Lily diagnosed?

Christine: Lily was exceeding important developmental milestones during the first year of her life. Early on, she rolled over, sat up, and spoke — 15 to 30 words at 12 months!

Slowly, Lily started reverting into herself. She lost her ability to speak. She regressed — cognitively, socially, and physically — to the point where I had to get her checked.

After a few misdiagnoses, the genetic test came back two weeks before her third birthday: It was Rett syndrome. My worst nightmare had come true.

HC: Tell us about your typical day.

Christine: When Lily wakes up around 7 a.m., she’ll yell out for me. I’ll go in, give her kisses and snuggles and check her diaper. I put her playlist on — she has quite eclectic taste in music — as she sits in bed while I make her breakfast — usually a smoothie that has like 5,000 ingredients in it — from bananas to multivitamins, to probiotics. Sometimes, she’ll drink the whole thing; other times, she just takes a few sips. Her appetite comes and goes, sometimes she just can't open her mouth. Lately, her brain hasn’t been signaling her to do that.

After brushing Lily’s teeth, fixing her hair, helping her choose her outfit — she’s quite stylish — and putting myself together for work (no easy feat, especially given that mornings are difficult for Lily physically as she tends to fall a lot), I take her to school in her stroller.

Lily goes to a special school for kids with all kinds of disabilities and she's there from 9 a.m. to 2:30 p.m.

She uses an eye-gaze device to communicate — like Stephen Hawking. Most of her school day is spent in therapy — she has physical therapy, occupational therapy, speech therapy, music therapy … just an army of therapists.

When Lily gets home from school, she has more therapy. It’s bath time at 7:30 and she’s in bed between 8 and 9, but sleep disorder comes with the territory. Some nights she’s screaming, having anxiety attacks, and seizure-like episodes.

HC: How have you been able to juggle work and Lily’s condition? What made you realize you needed to take a break from corporate America and focus exclusively on Lily and her health?

Christine: It’s not easy — I sometimes go for days without sleeping. Thankfully, I have a very supportive boss, a high-functioning team, and a few trained caregivers who watch Lily after school.

The past few months have been especially difficult. Lily’s been losing weight and having breathing issues. Her ability to walk has deteriorated. And the latest challenge has been trying to manage her bladder. One time, she didn’t go for 36 hours! Her body is producing urine, but her muscles don’t remember how to let it out.

There are big decisions I need to make. Do I put Lily on a feeding tube? Do I learn how to catheterize her so that we don’t end up in the ER every time she can’t pee?

I realized I needed time off to think through these details and think about the future.

HC: Do you see any light at the end of the tunnel?

Christine: I do! The mutation that causes Rett was identified in 1999 and has already been reversed in lab mice. Within the next 12-48 months, gene therapy trials in humans with Rett will begin.

A cure is near and I’m optimistic that we will see one while Lily is still young.

In the meantime, I try to focus on what an amazing kid I have. Even though Lily has Rett, Rett doesn’t have Lily. And I try to follow her lead.

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