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Willard baby, 1, diagnosed with rare disease — overcomes unfavorable odds

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Willard baby, 1, diagnosed with rare disease — overcomes unfavorable odds

Willard resident Harley Stumbo had a normal pregnancy in 2020. She did everything right in terms of taking all of the right vitamins and attending all of her check-up appointments.

Unfortunately, the birth of her 1-year-old daughter, Wren Stumbo, preceded many of the complications she would have to face as a new mother.

“The first thing the doctor said was, 'Her cord is really short, that's weird,’” she said. “It was probably like 18 inches long, and apparently that's a sign of her condition, but no one knew that at the time.”

Wren was born with a very rare genetic condition known as ALG6-CDG, also known as a congenital disorder of glycosylation.

At the very beginning of Wren’s life, the Stumbo family noticed that she was never happy. She presented with extreme fussiness and discomfort and would not take breast milk or formula.

The Stumbo family

The Stumbo family.

“She screamed at least eight-plus hours a day, she was not very good at eating,” Harley said. “It took all day just to get her to finish what she was supposed to.”

Her original presumption was that her daughter had extreme gassiness, but when it became worse, she decided to take her to the doctor for a check-up.

“I went to a doctor in Norwalk for a while and they kind of just told me that it was normal for a baby to have colic and that she would outgrow it,” she said.

When it became clear that there was more to her baby’s condition that primary doctors could not identify, Harley was referred to pediatric neurologist Dr. Neil Kulkarni, MD, at Nationwide Children’s Hospital (NCH).

“He immediately thought it was something genetic but didn't really give me any guesses. He said we would get the testing done,” Harley said.

Wren was set to see geneticists within the next few months, but after that initial appointment, she started having seizures. She was quickly admitted to NCH on the neurology floor in November 2020. However, when her seizures became more frequent she was admitted into the Pediatric Intensive Care Unit.

The neurology team was initially concerned about Wren’s delayed development. They hooked her up to long-term monitoring (EEG) to monitor her brainwaves.

When Wren began to seize all of the time, Dr. Kulkarni sent a whole-exome sequence (WES) that helps thoroughly track a person’s genes.

For 72 days, the Stumbo family waited for answers. Genetics took both Harley and her husband, Joe Stumbo’s, blood work and sent it down to Baylor University Medical Center for a free diagnosis. When the test results came back, the Stumbo’s finally had the answers they were looking for regarding Wren’s condition.

When the test results came back, the Stumbos finally had the answers they were looking for regarding Wren’s condition: She was diagnosed with ALG6-CDG. 

“Not every child is a 50/50 copy of mom and dad,” Dr. Kulkarni explained. “They are really approximately 45 percent mom, 45 percent dad and 10 percent brand new stuff as we see mutations occur. This is usually a good thing... But it can also be a bad thing sometimes when we see difficulties with genetic problems. And so, I imagine that this arose spontaneously as a result of one of those mutations, and it was just unfortunate for Wren in terms of she's had this since birth.”

ALG6-CDG was first discovered in the 1980s and there are 130 different forms, according to Kulkarni. Wren has type 1C, meaning she presents with weak muscles and profound developmental delay.  

Congenital disorder of glycosylation is an umbrella term for very rare genetic conditions within a chemical process known as glycosylation, in which sugar glycans are created, altered and then attached to proteins or fat, according to Kulkarni.

Wren is the only child in Ohio diagnosed with this rare condition. It affects every part of her body system, most especially her brain with seizures being her most debilitating symptom.

Though figuring out Wren’s condition helped, Kulkarni and his staff still had difficulty controlling her seizures because of her odd presentation of such a very rare disease.

While in the hospital, Wren was in Status Epilepticus (a seizure that lasts longer than 5 minutes) for much of the course. Along with her seizures, the challenge for Kulkarni and his team was the association of Wren’s condition with traumatic desaturations and bradycardia, meaning that her heart rate would slow and sometimes required her to have bag-mask ventilation (blowing air into her lungs and giving chest compressions).

This would happen very frequently, which made it hard to get her stable enough so that Kulkarni and his team could properly treat her. In the end though, they ended up pulling it off.

While monitoring her condition closely, Kulkarni noticed that Wren’s background would look better whenever she was on high doses of barbiturates. After putting her on phenobarbital as well, he saw Wren’s condition noticeably improve, and she stopped seizing so often.

“She's still a very, very sick child. She requires frequent blood draws and she requires frequent checking on her meds, but she's doing better ever since she's been discharged,” Kulkarni said.

Wren Stumbo

Wren was born with a very rare genetic condition known as ALG6-CDG, also known as a congenital disorder of glycosylation. 

Since being released from the hospital in February of this year, Wren’s had several seizures, but not to the same extent she had them previously.

“I think we were all happily surprised that we were able to get her seizures to a good enough control point where we could get her home,” Kulkarni said.  

Currently, Wren uses a gastrostomy tube (G-tube) and doesn't eat anything by mouth. Due to the number of drugs Wren receives to control her seizures, she often sleeps for long periods.

“She's very floppy, they call it,” Harley said. “She doesn't have head control, but she is able to gain some of that back with therapy, so that's her current goal.”

For physical therapy, the Stumbos take Wren to NCH in Ontario where she sees physical therapy assistant Kelly Kisling. Kisling works with Wren on her alertness, using vibrating toys to help get her familiar with motions as well as lights.

“In physical therapy we just hope that we can get her to the point where maybe she could do some sitting on her own, or maybe she could learn to do some rolling or pushing up on her arms and prone play," Kisling said. "That's mainly what I'm looking at is simple self-initiated movement." 

Kisling calls working with the Stumbo family a “very pleasant experience.” Since attending physical therapy, Wren is now able to hold her head up on her own and turn it from side to side, as well as reach out and move her fingers and legs.

“She is focusing on toys a little bit better and reaching out to move her fingers like when she's trying to get the iPad to activate,” Kisling said. “I still [have] to help her arm, but she'll twitch her fingers and rub things like she wants to participate in play.”

Wren Stumbo - Nationwide physical therapy

The Stumbo’s take Wren to Nationwide Children's Hospital in Ontario where she sees physical therapy assistant Kelly Kisling.

Kisling says Wren’s biggest win is still being here and being able to go home with her family. She gives much credit to Harley and her strength this past year.

“Harley is one of the toughest moms I've met,” Kisling said. “She's doing an incredible job dealing with this. I mean her child has coded several times, she's had to perform CPR on her own child…I just can't even imagine what this mom was going through, and she takes it in stride and she's doing incredible.”

Harley’s experience with NCH has taught her many things. The main thing is the importance of fighting for her child.

“I felt like I was being treated kind of like I was crazy by primary doctors, or that I was just kind of an ignorant new mom," she said. "Dr. Kulkarni was really the only one that ever immediately said, 'Yeah, you're not crazy.'"  

Though Wren will have many more challenges to overcome throughout her life as she grows, the Stumbo family remains faithful in her strength. They’ve welcomed another child into the world and are thankful to still have Wren in their lives today.

“I kind of think of Wren as a miracle...” Harley pauses, her voice welling up over the phone.

"The doctors weren't giving us any false hope. They were very realistic with us and they said that with the amount of seizures and the type of seizures that they didn't know if she was ever going to be able to come off the vent or if we were going to be able to take her home… and now she's without seizures, and she's happy, and she's home.”

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Thrive Reporter

Tierra Thomas is the Thrive Reporter for Richland Source and Content Specialist for Source Brand Solutions. She graduated from Kent State University with a degree in Journalism. When she's not writing news, she's either reading or writing fiction.