One-year-old Houston boy could help the world discover an extremely rare disease

One-year-old Houston boy could help the world discover an extremely rare disease

Prince Jnoffin rocks the world of his parents since the day of his birth. Soon, the one-year-old boy could also inspire others by helping doctors learn about an extremely rare genetic condition.

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

The condition is extremely rare; Prince’s doctor said it had only been documented in 13 other people and he would be the youngest patient to be diagnosed. Experts estimate there could 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, a PhD in nursing and nurse practitioner, said the diagnosis was a relief because Prince was being tested for a host of conditions, including those with a life expectancy 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 that [diagnosis] I was just grateful.

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 of energy. There are over a dozen types, and each affects the body a little differently. Most affect the liver and muscles, but they can also affect the kidneys, heart, intestines and other parts of the body, according to the Cleveland Clinic.

Glycogen storage disease is rare in general, occurring in one in 20,000 to 25,000 babies. But Prince’s type X is especially rare, said Dr. Claudia Soler-Alfonso, Prince’s physician at Metabolic Genetics Clinical in Texas. Children’s Hospital and Assistant Professor at Baylor College of Medicine.

“Even for us, [who] see GSDs often, we were actually quite amazed to find it,” 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. Tests showed he had a high level of creatinine kinesis, an enzyme found in skeletal muscle, heart muscle and the brain. High levels of CK can indicate muscle damage.

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

Prince’s health wasn’t his only stress. Roberts was working to complete her dissertation to earn her doctorate in nursing practice at Texas Women’s University.

She and Jnoffin were also preparing to wed on March 26. The week before their wedding, doctors were calling to ask if Roberts and Jnoffin could bring Prince to the hospital for further tests.

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

Prince was referred to the Texas Children’s Metabolic Genetics Clinic around April, and genetic testing took place soon after. Her parents finally learned of her diagnosis in June.

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

Some GSD patients need to follow certain diets to avoid sugar. But Prince’s type X simply requires quality food and hydration, with an emphasis on protein and good carbs to support his muscles, said Brandy Rawls-Castillo, dietitian coordinator at the Metabolic Genetics Clinic at Texas Children’s. .

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

There’s no indication the condition will affect his cognitive development, but Prince will benefit from physical therapy to help him learn to walk and run, Soler-Alfonso said.

As Prince ages and becomes more active, he may be more prone to muscle breakdown due to his condition, which could lead to kidney damage, Soler-Alfonso said. If his CK becomes elevated, he may need to be admitted to hospital and may need occasional intravenous therapy.

This inspired Roberts Jnoffin to start his own business, ActIVate Drip Spa, after graduating with his DNP. The company, which opened in October in downtown Houston, provides intravenous drips and other therapies that it says will eliminate toxins in the body.

Vitamin treatments, known as intravenous therapy, have gained popularity after being featured on TV shows like “The Kardashians” and promoted by celebrities like Adele and Rihanna, although medical professionals have expressed concerns. concerns about their effectiveness and the safety of IVs outside of a hospital. .

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

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

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

Prince may soon shake up other people’s worlds too. Soler-Alfonso hopes that when Prince turns 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 is so little information about GSD type X that Prince could play an important role in helping medical professionals understand the disease.

Roberts Jnoffin also hopes his 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 to spread the word…I want to push and let everyone know.”

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