Three weeks of worry came down to this moment: Mary Jo and Adam Cardona sat face to face with a specialist to find out the cause of their infant son’s seizures.
They didn’t care that the doctor was 60 miles away and their conversation occurred through a video call. They wanted information and they wanted to get it from an expert.
Seth DeVries, MD, a pediatric neurologist at Spectrum Health Helen DeVos Children’s Hospital, told the Cardonas that 6-month-old Camden had a rare genetic condition called tuberous sclerosis complex. It causes benign tumors to form in organs throughout the body.
The Cardonas, both teachers, peppered Dr. DeVries with questions. The conversation, though difficult, brought some relief.
“Finally, I had someone who could answer my questions,” Mary Jo said. “And he was so caring―it was a godsend.”
“Bless that man. He sat there and let us ask question after question after question, for an hour or more.”
The Cardonas had never heard of tuberous sclerosis until the first signs of it appeared in Camden, a happy, bright-eyed little boy. The condition affects one in every 6,000 newborns. About 50,000 Americans have it.
It’s going to be challenging. He’s going to need our clinic. But at the speed that things are changing in this field, the prognosis gets better and better.
Despite the rarity of the condition, the Cardonas found the expertise their son needed about an hour’s drive from their home in Three Rivers, Michigan.
At Helen DeVos Children’s Hospital, in Grand Rapids, Michigan, a dedicated tuberous sclerosis clinic draws patients from all over the country. It treats close to 70 children and adults.
The clinic brings together a team of specialists―urologists, neurologists, nephrologists (kidney specialists), a dermatologist and a genetic counselor―with expertise in treating tuberous sclerosis.
Because the condition can affect a patient in so many ways, “the coordination of care is everything,” said Alejandro Quiroga, MD, a pediatric nephrologist who is part of the tuberous sclerosis clinic. “You really get the whole picture there.”
If both parent and child have the condition, the specialists can see them the same day in the same room.
The physicians also work with Bronson Methodist Hospital in Kalamazoo, providing telemedicine consults—which is how the Cardonas met Dr. DeVries.
An infantile spasm
For Camden, the first inkling of a problem came when he turned 6 months old.
The family was preparing to move from Florida to Three Rivers to be near family. Mary Jo grew up in Constantine, Michigan.
The day before the move, Mary Jo took Camden to the pediatrician in Ocala, Florida, for a well-child checkup. She had no big concerns. Camden seemed as hearty and healthy as his two big brothers, Cale and Cohen.
But she did point out small white spots on Camden’s skin and asked the doctor if they might be a sign of an allergic reaction.
After examining the spots, the doctor asked if there was a family history of tuberous sclerosis.
Mary Jo didn’t understand the question. “Tuberculosis?” she asked.
No, the doctor explained. Tuberous sclerosis is a rare genetic condition that can cause seizures, among other issues.
“She said she was not super-concerned,” Mary Jo said. Camden was hitting his developmental milestones on time. But the doctor suggested Mary Jo consult a specialist, “just to rule it out.”
Over the next week, the family moved to Michigan. And Mary Jo noticed some changes in Camden. The “happiest, giggliest baby” suddenly stopped smiling. He didn’t make eye contact.
And one morning, as he was nursing, Camden suddenly bent forward and his arms flew out. With help from an internet search, Mary Jo determined he might have had an infantile spasm―a type of seizure. She also discovered the seizures could be linked to tuberous sclerosis.
The Cardonas took Camden to the emergency department at Bronson Hospital in Kalamazoo, Michigan. Camden had two MRIs and an overnight EEG―or electroencephalogram―a test that measures brain waves. A nurse practitioner performed a neurological exam.
In Grand Rapids, Dr. DeVries was able to review the test results and discuss the findings with the nurse practitioner.
As he met with the Cardonas via telemedicine, Dr. DeVries confirmed their suspicions―Camden had tuberous sclerosis.
The condition, caused by a genetic mutation, causes the growth of tumors throughout the body, particularly in the brain, kidneys and heart. Although not cancerous, the tumors can cause serious problems and need monitoring and treatment.
The meeting “really was an opportunity for me to explain to them what I saw and what this disease is and what we are going to do about it,” he said.
“At that moment, the most important thing was to get him on medication for his infantile spasms.”
He credited Camden’s mother with recognizing the infantile spasm and getting him evaluated right away.
“The early recognition and treatment was an important factor to his rapid response,” Dr. DeVries says.
The pediatric neurologists at Helen DeVos Children’s Hospital have provided inpatient telemedicine consults with Bronson for two and half years.
“I think the greatest benefits of these inpatient telemedicine consultations is the ability for the pediatric neurologist to communicate with the patient and the family directly―without asking the family to leave the hospital and travel up to Grand Rapids and schedule an appointment,” Dr. DeVries said.
Although the Cardonas would likely have gotten an appointment for Camden within 24 hours, they did not want to wait.
They wanted answers as quickly as possible. And they didn’t want any delays in starting the medication Camden needed.
“That was the blessing in all of it―that Bronson and Helen DeVos Children’s Hospital have that relationship and that we were able to benefit from it,” Mary Jo said.
Uncovering the genetics
Since that first meeting with Dr. DeVries, the Cardonas have visited the tuberous sclerosis clinic at Helen DeVos Children’s Hospital several times.
Through genetic testing, they learned Camden has a mutation of the TSC2 gene―a gene that normally suppresses tumor growth.
The effect on patients varies widely. Some reach adulthood before they realize they have the condition. Others may have developmental delays, epilepsy or autism, as well as complications in their kidneys, heart, lungs, eyes and other organs. The disease is the leading genetic cause of autism and epilepsy, according to the Tuberous Sclerosis Alliance.
About one-third of cases are inherited from a parent. Most cases, including Camden’s, result from a spontaneous genetic mutation.
Mary Jo credits the pediatrician in Florida with raising her awareness about the condition, so Camden could get a timely diagnosis and treatment.
“If it weren’t for that, I might not have been pushing my gut instinct as much,” she said.
Now, Camden receives medication to control seizures. And he receives speech, physical and occupational therapy to address developmental delays. “He’s doing very well,” Dr. DeVries said. “He became seizure-free on the medication.”
At 14 months, he is not mobile, but he can sit up and play and interact with his family.
“His little personality is starting to shine through,” Mary Jo said. “He loves watching his brothers. He loves Mickey Mouse. He loves when you play games with him. He loves balloons.”
With a sweet smile, Camden charms pretty much everyone he meets.
“He’s adorable,” Dr. DeVries said. “He’s one of those kids where you go into the room, and you don’t want to leave. You just want to keep playing with him the whole time.”
“He has a little spunk,” agreed Dr. Quiroga.
Doctors continue to monitor Camden. He undergoes periodic MRI scans, eye exams and tests of kidney function.
Because the impact of tuberous sclerosis on a child can vary greatly, Camden’s care team will tailor treatment to fit his needs.
“Our treatment for tuberous sclerosis is very customized for each patient,” Dr. DeVries said. “Every child’s treatment for their TS is a little bit different.”
Developments in the past five years have improved the prognosis for children like Camden, Dr. Quiroga said.
“It’s going to be challenging. He’s going to need our clinic,” he said. “But at the speed that things are changing in this field, the prognosis gets better and better. It is very exciting.”
Researchers are exploring new medications that target the pathway affected by the mutation, as well as ways to identify and treat patients earlier.
“There are more medications coming down the pike that we are going to be able to tailor better for patients,” said Dr. Quiroga. “My hope is that patients won’t have seizures anymore.”
In the meantime, the Cardonas shower love and attention on Camden and delight in their happy, good-natured boy.
“He is just the most perfect little guy ever,” Mary Jo said. “He is just a sweet little boy.”