Houston toddler boy could help doctors learn about rare condition

Prince Jnoffin has been rocking his parents’ world since the day he was born. Soon the 1-year-old boy could be inspiring others as well by helping doctors learn about an extremely rare genetic condition.

The Houston boy was born with glycogen storage disease type X, a condition that primarily affects the muscles that are associated with movement. The condition causes individuals to experience muscle aches and pains after strenuous physical activity.

The condition is extremely rare; Prince’s doctor said it has only been documented in 13 other individuals, and he is believed to be the youngest patient to be diagnosed. Experts estimate there may be a total of 50 cases worldwide.

Prince’s parents spent months searching for a diagnosis and eventually learned the answer through genetic testing. His mother Tasha Roberts Jnoffin, who holds a doctorate-level nursing degree and is a nurse practitioner, said the diagnosis came as a relief because Prince was being tested for a host of conditions, including ones with life expectancies of less than 20 years.

“Waiting for the results, I cried every day [and] every night, not knowing what was wrong with our baby,” she said. “…So with this [diagnosis] I was just thankful.”

Glycogen storage diseases affect the body’s ability to store or break down glycogen, a form of glucose that is the body’s main source for energy. There are more than a dozen types, and each affects the body a little differently. Most affect the liver and muscles, but they can also affect the kidneys, the heart, the intestines and other parts of the body, according to the Cleveland Clinic.

Glycogen storage disease is rare in general, occurring in one of every 20,000 to 25,000 babies. But Prince’s type X is particularly rare, said Dr. Claudia Soler-Alfonso, who is Prince’s doctor at the Metabolic Genetics Clinical at Texas Children’s Hospital and an assistant professor at Baylor College of Medicine.

“Even for us, [who] see GSDs often, we were actually quite stunned to find him,” Soler-Alfonso said. “He’s quite unique.”

Prince’s diagnosis came after his pediatrician noticed involuntary movements in his tongue when he was 9 months old. Testing showed he had a high level of creatinine kinesis, an enzyme found in the skeletal muscle, heart muscle and brain. Elevated CK levels can indicate muscle damage.

He was referred to a pediatric neurologist for genetic testing. Roberts was fraught with anxiety because Prince was tested for genetic conditions that had life expectancies of less than 20 years, she said.

Prince’s health wasn’t her only stress. Roberts was working to finish her thesis to earn her Doctor of Nursing Practice at Texas Women’s University.

She and Jnoffin were also preparing to get married March 26. The week before their wedding, doctors were calling to ask whether Roberts and Jnoffin could bring Prince to the hospital for more testing.

“Everything was going crazy. It was very stressful,” Roberts said.

Prince was referred to the Metabolic Genetics Clinical at Texas Children’s around April, and the genetic testing took place shortly thereafter. His parents finally learned his diagnosis in June.

Prince’s GSD type X is so rare that his parents and Soler-Alfonso said it’s difficult to predict how it will affect him throughout his life. He may experience muscle aches and pains, particularly after strenuous physical activity, she said.

Some GSD patients need to follow certain diets to avoid sugar. But Prince’s type X just requires quality nourishment and hydration, with a focus on protein and good carbohydrates to support his muscles, said Brandy Rawls-Castillo, a dietician coordinator with the Metabolic Genetics Clinic at Texas Children’s.

“For him, it’s more overall nutrition that we focus on,” she said.

There’s nothing to indicate the condition will affect his cognitive development, but Prince will have physical therapy to help him as he learns to walk and run, Soler-Alfonso said.

As Prince gets older and becomes more active, he may be more prone to muscle breakdown as a result of his condition, which could lead to kidney damage, Soler-Alfonso said. If his CK becomes elevated he may need to be admitted to a hospital, and may need occasional IV therapy.

That inspired Roberts Jnoffin to start her own business, ActIVate Drip Spa, after she graduated with her DNP. The business, which opened in October in downtown Houston, provides IV drips and other therapies that it says will eliminate toxins in the body.

Vitamin treatments, known as IV therapy, have surged in popularity after being featured on TV shows like “The Kardashians” and promoted by celebrities like Adele and Rihanna, though medical professionals have raised concerns about their effectiveness and the safety of IVs outside a hospital setting .

Roberts Jnoffin said she takes precautions by getting a list of patients’ medications and checking their blood pressure and other vital signs before providing the therapy.

Last month, Roberts Jnoffin won a $10,000 grand prize from the City of Houston’s Liftoff Houston Startup Business Plan Competition. She credits Prince for the success.

“He’s been something else,” said Roberts Jnoffin, who plans to open a second ActIVate Drip Spa location next year in Pearland. “He has rocked my world.”

Prince could soon be rocking others’ worlds, too. Soler-Alfonso is hopeful that when Prince is 5 or 6, the team at the Metabolic Genetics Clinic may be able to write an article about his case for a medical journal. There’s so little information about GSD type X that Prince could play an important role in helping medical professionals understand the condition.

Roberts Jnoffin is also hopeful her son’s story can help others.

“There are other children or adults who may not know they have this condition,” she said. “Just having the opportunity where we can spread the word … I want to push and let everybody know.”

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