Logan's Journey with Rare Syndromes and Speech Development at CHOP

The day Logan was born in 2017, his parents didn’t think much about the large purple and red birthmark covering almost a quarter of his face, with more marks on his legs and feet.

“All babies look a little purple and red at birth, so we thought everything would be OK,” says Madeline, Logan’s mom, of her firstborn son. “It was odd, sure, but testing in the hospital showed he was otherwise healthy.”

But Madeline had a gut feeling that there may be something more to this, so within a few days of bringing Logan home from the hospital, she and her husband made a pediatric appointment with a primary care pediatrician at Children’s Hospital of Philadelphia Care Network, Primary Care, Harborview/Cape May.

"As soon as they saw the birthmark, they set us up with an appointment in the CHOP dermatology department in Philadelphia,” she says.

Birthmarks are a sign of underlying vascular malformations

There, dermatologists confirmed what her primary care doctor had suspected. At 20 days old, Logan underwent an MRI, which confirmed the presence of a vascular malformation in his brain, leading to a diagnosis of Sturge-Weber syndrome. This rare neurological disorder can cause seizures, glaucoma and other health problems.

He was also diagnosed with Klippel-Trenaunay syndrome for the marks on his legs, another rare congenital condition characterized by the abnormal development of blood vessels, leading to a triad of symptoms including abnormal growth of bones and soft tissues, vascular malformations such as port wine stains, and varicose veins.

The family started to assemble its CHOP care team, including Monte D. Mills, MD, a CHOP senior surgeon in the Division of Ophthalmology, and a neurologist.

After that, everything quieted until Logan had his first seizure right before his first birthday.

Seizures got more frequent and severe

“From there, it got more and more frequent,” says Madeline after Logan was diagnosed with epilepsy due to Sturge-Weber. “The seizures got worse. We’d put him on medication to stop them for a bit, but then they’d come back. They were very confusing to us as parents — we’d always ask ourselves, ‘Is he awake because he has a seizure, or is it just because he’s a baby and he woke up?’”

He primarily suffered from focal seizures, sometimes called partial seizures, because they don’t affect the entire brain. The signs weren’t always straightforward. Sometimes, he lost consciousness. Sometimes his eyes flickered to the corners. Sometimes he threw up.

“There was a lot of uncertainty,” says Madeline. “We called the ambulance for help often, but it’s such a rare disease that the local hospitals didn’t always know what was happening. They’d say he was dehydrated.”

One seizure was so bad Logan was helicoptered to Philadelphia for further evaluation by neurologists from CHOP’s Pediatric Epilepsy Program. Doctors hooked him up to IVs to administer medication and monitors during seizures to see what parts of the brain were affected. One seizure lasted more than an hour.

After 12 days in the hospital, Madeline met with a neurologist to discuss options. They could try yet another new medication or perform brain surgery. Hemispherotomy, a complex brain surgery where the unhealthy part of his brain was disconnected from the healthy side and the brainstem, was the best option to control his severe seizures.

Next up: brain surgery

Although Logan's parents were initially hesitant about the surgery, they met with Benjamin Kennedy, MD, a skilled neurosurgeon at CHOP, who provided comprehensive information and support. They greenlighted the surgery.

Following the hemispherotomy, Logan — now seizure free — embarked on an intensive rehabilitation program at CHOP’s Seashore House inpatient rehabilitation center to regain physical mobility and speech functions.

“He had to relearn how to swallow, to eat,” says Madeline. “We expected him to lose all speech because language acquisition develops on the left side of the brain where he got his surgery, but as soon as he woke up, he asked for milk.”

Because Logan’s brain developed differently from the beginning, his speech center developed on the right. But there was still work to do in honing the speech skills he had retained.

Hard work paying off with improved language skills

Logan's speech and language development became a focal point of his recovery, with the support of Christine Sullivan, MS, CCC-SLP, a speech/language pathologist at CHOP. Starting with simple goals, such as following two-step directions and making choices verbally, Logan's progress has been astounding.

He advanced to more complex skills, with time and dedication, including prepositional phrases, conversational topic maintenance, and answering "wh" questions. Sullivan also helped Logan develop pragmatic language skills, ensuring he could communicate effectively and interact socially.

“I don’t think I realized the extent until I had our second — neurotypical — son, who is now 2, and I saw him pick up language so easily,” says Madeline. “My heart breaks for Logan, because reaching his speech milestones hasn’t been easy. It requires lots of speech interventions. He works so hard and continually impresses his speech therapist.”

She says his typical Thursday involves almost three hours of therapy, followed by a lunch at his favorite restaurant. Logan is now a happy and independent kindergartener. He is one of the top readers in his class and frequently gears into “sonic” mode, where he’ll race around the house at a speed his parents didn’t know he’d ever be able to reach.

“I can't believe what a trooper he is. We are lucky to have the right professionals at CHOP who know how to target his needs and push him — all without frustrating him — and who made sure he was physically healthy enough to get to this level of therapy in the first place.”