By Maureen Gilmer, IU Health senior writer, firstname.lastname@example.org
Ja’Marrion Young loves the camera.
“Cheese,” he says over and over, sporting a huge grin before asking to see the images a photographer has captured.
The only time the 3-year-old is not ready for his close-up is when he’s in pain. And unfortunately for Ja’Marrion, pain is part of his life.
The Fort Wayne boy, son of Janyia Grundy and Untarrius Young, was diagnosed with sickle cell disease as part of the state’s newborn screening program that tests for more than 50 conditions, including metabolic disorders, cystic fibrosis, congenital hearing loss and congenital heart defects.
The goal is to quickly identify birth conditions so that treatment can begin promptly, leading to better long-term results.
Sickle cell disease is an inherited blood disorder that causes red blood cells to become sickle- or crescent-shaped. That often leads to frequent infections, swelling in the hands and legs, pain, severe fatigue and delayed growth. It is most common in Black and Hispanic populations.
Ja’Marrion was just a few months old when he first came to the Riley Children’s Health sickle cell clinic, recalled Dr. Seethal Jacob, director of the hospital’s Comprehensive Pediatric Sickle Cell Program.
“I remember meeting him and mom when they came for a cardiology evaluation and building the relationship from there. We’ve appreciated her entrusting us with Ja’Marrion’s care.”
But Ja’Marrion had a few other things going on when he was born. He had surgery by Dr. Mark Turrentine for a heart defect at about 6 months of age, then surgery by Dr. Frederick Rescorla for a congenital diaphragmatic hernia.
Without his other diagnoses, he might not be as prone to pain episodes, considering he takes hydroxyurea to control his sickle cell. Hydroxyurea, which was approved by the FDA for use in pediatric sickle cell patients in 2017, helps prevent formation of sickle-shaped red blood cells.
“Any other 3-year-old on hydroxyurea, they may have a pain event here or there, but we don’t typically see the frequency we’ve been seeing with Ja’Marrion,” Dr. Jacob said.
Instead, the little guy has been hospitalized multiple times this year, both in Fort Wayne and at Riley, as doctors work to manage his pain.
So, Drs. Jacob, Montgomery and Rescorla have been working together to determine if Ja’marrion’s compromised lung function, especially as it relates to the diaphragmatic hernia, could be affecting his sickle cell disease, Dr. Jacob explained.
“The way he is or isn’t oxygenating his red blood cells, is that causing him to have more pain episodes than we would expect at his age on his medications? It’s been really helpful to think through the complexities of Ja’Marrion’s care with them,” she said.
None of this collaboration would be possible without the active participation of the toddler’s parents, particularly his mom, who makes the two-hour drive to Riley frequently to ensure her son gets the best care possible.
She knew nothing about sickle cell when she was informed of the diagnosis when he was just a few days old, but she learned that both she and Ja’Marrion’s dad are carriers of the sickle cell trait, though they have no symptoms of the disease.
Since then, she has educated herself and others in her family about the disease and advocates for her son within the healthcare system.
That’s why she drives the distance to Riley, which provides comprehensive, lifelong sickle cell care, including access to FDA-approved therapies, clinical trials and research studies.
“The care here is amazing,” Grundy said. “Without them I don’t know what we would do because I’d be losing my mind. I love it here.”
With the exception of a blood draw during a visit last week, Ja’Marrion is cooperative and engaging with everyone on his care team. He gives high fives and takes deep breaths as instructed – he even says cheese – so that Dr. Machogu can listen to his lungs; he lets a hematology fellow push on his belly; and he lies still while Dr. Jacob looks in his mouth and ears.
He laughs heartily at everything and nothing, and he squeals with delight as he bounces a ball across the exam room, over and over again.
“He’s a happy boy,” his mom says, “when he’s not having a sickle cell flare-up. He’s very smart, funny and loving.”
Grundy would gladly absorb the pain her baby feels if she could. Instead, when it hits, he screams and cries, she said.
“I hate seeing him when he goes into a crisis. You can’t touch him, he won’t eat. Sometimes he wakes up screaming. The medicine is not strong enough, so we have to take him to the emergency room, and then it’s full blown.”
She said she’d rather have him in the hospital at Riley, despite the distance, because the team knows how best to help him.
“Ja’Marrion’s mom is a perfect example of the commitment our patients and families make when having a child with a chronic disease,” Dr. Jacob said. “Mom makes the trip from Fort Wayne every couple months and spends hours with us to make sure her child gets the expert care he needs.”
She’d rather the family not have to travel so far, and telemedicine does make it easier for some, but Ja’Marrion benefits from being seen in person by his Riley team because of his other medical issues.
“We really need to bring attention and awareness to sickle cell disease because it shouldn’t be difficult for our families to find expert sickle cell care,” Dr. Jacob added. “We’re lucky here in Indiana to have telemedicine, to have our program at Riley, but thinking more broadly, nationally, we have to figure out a way to bring expertise closer to home.”
While there have been advancements in treatment for sickle cell, including stem cell transplant, there remains a long way to go, so Dr. Jacob is part of a team of researchers looking to improve care. Riley is a site for several studies, including one on sickle cell trait markers and another on a potential new drug in the pipeline.
The goal in the first study is to better understand what it means to be a carrier of sickle cell and provide updated education and counseling for patients, she said.
“We say the same things today that we said 30 years ago about trait, which is just not acceptable. Our community is telling us we need to dig deeper.”
At the same time, she finds hope in her patients and those who advocate for them.
“Watching this new investment in therapeutics and research for sickle cell disease has brought me a lot of hope because I am able to provide my patients with that hope. I’m constantly in awe of our patients and families,” she added.
“Historically, people have talked about the sickle cell population as a population that doesn’t want to participate in research or enroll in clinical studies, and yet our patient population happily enrolls in our studies,” Dr. Jacob said.
“We are the top enrolling site for several of the studies that we’re in because they want that. They’re looking for a way to improve their child’s experience, their experience and/or the experience of those who come after them. That’s amazing, and that’s an incredible sacrifice. But when you make research acceptable and accessible for patients, they want to be a part of it. Finding that balance is really important.”
Grundy is all in when it comes to getting her son the best treatment. And she’s found that at Riley.
“I thank Riley for all the support they give and everything they do to care for my little boy,” she said. “Even though we’re two hours away from home, they still make it feel like we’re at home.”
Photos by Mike Dickbernd, IU Health visual journalist, email@example.com