Stories about: rare disease

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.”
SharieffTrach

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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Palliative care: Not just end of life care

Hillary and EsmeMy daughter Esmé is a four-and-one-half-year-old girl who loves listening to “The Muppets Movie” soundtrack, laughing at silly jokes and reading books. Esmé has been a patient at Boston Children’s Hospital since she was 8 months old, when she started seeing the Aerodigestive Clinic for chronic aspiration. She is followed by a number of specialists to treat her epilepsy, low tone, kidney and heart abnormalities, developmental delay, poor growth, lack of verbal communication, among other things. Esmé is presumed to have a genetic disorder, but, so far, she does not have a clear diagnosis.

Last week I had an appointment that I was both really looking forward to and dreading, simultaneously. The appointment was with Pediatric Advanced Care Team (PACT) at Boston Children’s. They are the group who does palliative care there.

Now, I know that most people hear “palliative care” and think very specific things about end of life care.

I did, certainly.

And, frankly, my associations with palliative care were enough to make me not want to have the meeting with them in the first place.

However, we have reached that place in Esmé’s care where, while she much more stable than ever, there are some roadblocks that affect her (and our family’s) quality of life. Several of my mom friends who also have children with similar needs suggested that it might be time to talk to palliative care.

I said, “No. Absolutely not.”

Palliative care and stress relief

But, after my knee-jerk reaction, I thought it might be smart to see if my understanding of palliative care was, in fact, accurate. And it wasn’t. Palliative care is “specialized medical care for people with serious illnesses. It focuses on providing patients with relief from the symptoms and stress of a serious illness. The goal is to improve quality of life for both the patient and the family.

Wow, right? Obviously Ez has a serious illness. And, I’m sure this will surprise all of you, but there is stress (oh, God the stress …). While palliative care can be a method used in conjunction with end of life concerns, it is fundamentally focused on living–living happily and comfortably despite on-going serious health challenges. And, because we are in this for the longterm, it seems like improving Esmé’s quality of life–and the quality of life of our family unit–is sort of a no-brainer…

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