Stories about: rare disease

Mother’s Day gifts

rare-diseaseMother’s Day 2010: I watch as my mother unwraps the first of her presents. It is pair of pretty handmade slippers. She is pleased. I am anxious, though. As I watch her sweetly looking over the slippers, I try to resist the urge to push the next package toward her and demand she open it immediately.

I quite literally sit on my hands to keep myself in check.

When she finally unwraps the second package, I watch the confusion on her face as it settles into a hopeful realization. She holds up the tiny little slippers and asks, “Are you?” I smile and nod, tears welling up in my eyes, “It is really early mom, but we wanted you to know … Happy Mother’s Day!”

I am four weeks pregnant, expecting my first child, my mother’s first grandchild. I can already imagine what it will feel like, one year later, celebrating my first Mother’s Day. Mom and I will sit under the big umbrella our faces and arms in the shade, our feet in the sun. We’ll pass the baby back and forth, laughing and talking about this baby’s future. We’ll walk around mom’s gardens and admire the flowers. We’ll already be a little clan: mom, me and my baby girl — she will be a girl, I just know it.

I am right. The little tiny bundle of cells and joy growing inside me is a little girl, just as I imagined.

But, also, she is already unbelievably different than I ever could have imagined.

Mother’s Day 2011: I glance over my sleeping three-month-old daughter Esmé. I take her in completely — her full head of dark hair, her pouty lips, her dimpled hands. For a moment I swim in the calm of watching her little chest rising and falling rhythmically — in and out, in and out.

After a beat, I snap to, scanning the lines running from her, glancing over the IV, oxygen and monitors. I have the same thought I have had every morning for the last week: She made it through another night.

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Blur: Inside my life as the parent of a child with a rare disease

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Hillary holds Esmé at their home in New York-Tracey Buyce Photography

Looking through the photos I took of my daughter this morning — her in her pajamas leaning back against my thighs, my bare feet in the tangle of blankets in the background — I remember there are so many things about being a mother that are exactly as I imagined: The awe I feel when I look at my daughter, Esmé. The love I sense when I stare into her beautiful deep blue eyes. The pride that blossoms when I sink my fingers into her unruly curls, claiming her as my very own.

The feeling that I have never, ever belonged to another person as I belong to Esmé.

But there is something else there as well. It is present in each of the photos from this morning: The blurs created by her hands as they flap in the air, by her head as she shakes it back and forth, by her legs as she rhythmically pounds her heels to a beat only she understands.

These blurs are the contrails of her stereotypies, her choreoathetoid movement disorder, her flailing attempts at communication. They are the intangible made visible, photographic reminders that being Esmé’s mother is also nothing at all like I expected. They are the evidence of the blur I struggle to articulate: how the fear and pain associated with my daughter’s rare diseases can co-exist with the tremendous gifts that have come out of her conditions.

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For the love of Sharieff: A father dedicates his life to his son’s complex medical care

Photos by Katherine C. Cohen 

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On an unseasonably warm day in February, the sun shines brightly at Clasky Common Park, a New Bedford town gem with views of the river. Twenty-one-year old Sharieff Hester sports a pair of cherry-red shades and a big smile. He walks confidently around the park, his father and sole caretaker David Hester dutifully following behind, checking in often. “Are you cold son?” he asks. Sharieff answers through his tracheostomy, “I’m fine, Dad.”

David stops to adjust his son’s scarf and offer him a sip of water. “We have a routine every morning. The first thing I do is hug Sharieff and tell him how much I love him. Then I make sure his trach is clean and dry, and we say a prayer together.”
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Sharieff has been cared for at Boston Children’s Hospital since his birth in 1994. His main diagnoses are Arthrogryposis, a rare congenital condition characterized by stiff joints and abnormally developed muscles; Klippel-Feil syndrome, a rare birth defect that causes some of the neck vertebrae to fuse together; restrictive lung disease; and pulmonary hypertension.

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Our family’s story: Finding a second home after CLOVES diagnosis

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Oliviah, Kollins and Adleigh

In July 2013, our family of four crowded into a tiny room at the Women’s Health Clinic in  Casper, Wyoming. We were so excited to find out if our third child would be a boy or a girl, and our daughters Adleigh and Oliviah had their own hopes. We had waited for this day for so long, and for our daughters, it seemed like an eternity.

The day had finally come, and we all celebrated the fact that we would welcome a baby boy.

Our excitement lasted just a few minutes, though, as our obstetrician noticed a “bump” underneath our baby boy’s right arm. We were quickly sent to Rocky Mountain Hospital for Children in Denver, Colorado. Doctors there were mesmerized by this “bump,” and kept a very close eye on it for the rest of the pregnancy.

Our miracle — Kollins Holbrook — arrived on October 16, 2013. Our team of over a dozen doctors had prepared us for the possibility that our baby might not survive and were ready to revive him at birth, but Kollins surprised everyone. He was thriving.

Just hours into the world, Kollins had his first of a lifetime of MRIs. His bump soon had an official name — cystic hygroma. Although very close to his heart and lungs, it didn’t pose an immediate threat to him internally.

We went home a few days later and were hopeful about getting a plan in place to remove Kollins’ bump and move on.

We soon found out Kollins’ condition was a much more complex situation than we had ever imagined. As he grew, so did the hygroma. We also were aware this meant the bigger it got, the closer it came to his internal organs. 

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