McAllen boy receives more promising diagnosis

McALLEN — Mayra Rivera just might have received the miracle for which she’d been praying.

In February, her 2-year-old son, Rosendo Robles, was diagnosed with mitochondrial disease, an under-detected illness that has a poor survival rate.

But a chance meeting with a doctor she met at a seminar in California in June led to more tests for Rosendo and a new, more promising diagnosis.

Houston-based Dr. Mary Kay Koenig, the pediatric neurologist Mayra met at the seminar, believes Rosendo has idiopathic cerebral folate deficiency, a rare but treatable disease.

The McAllen family was profiled in The Monitor earlier this year at Easter.

They traveled to numerous doctors for nearly two years before receiving the initial diagnosis. Mayra has since had to quit her job as a teacher, hire a nurse and frequently travel to San Antonio to keep her son alive.

“There is a light at the end of the tunnel,” Mayra said last week. “For the last six months I thought I was going to lose my son.”

20-40 cases

Koenig treats many child patients with mitochondrial disease. She retests each one and agrees with the mitochondrial diagnosis only if there is no other explanation for the child’s symptoms.

In Rosendo’s case, his symptoms — not being able to walk, talk, swallow or control eye movement — are also found in children with folate deficiency.

The earlier that folate deficiency is caught, the better chances of that child’s health improving.

A child diagnosed before the age of 3 has a good chance of becoming “normal,” Koenig said.

Koenig said patients are given folinic acid supplements to treat the disorder. The folinic acid helps replenish lost folate. Patients usually respond to the treatment after a couple of months, she said. Those with the disorder will have to take the supplement for the rest of their lives.

Koenig said she cannot officially diagnose someone with the disease unless that person undergoes treatment and responds well to it.

Koenig said she’s only heard of 20-40 folate deficiency cases reported in the world.

Mitochondrial disease, on the other hand, is under-diagnosed, according to the United Mitochondrial Foundation, the Pittsburgh-based nonprofit group devoted to research and education on the illness. While an exact number on how many are diagnosed with the disease is not available, the foundation estimates more than one in 4,000 children will develop a mitochondrial disease by age 10.

Two and a half years of hell

Mayra first noticed her son’s health deteriorating when he was 4 months old. She took him to numerous doctors for nearly two years before finally receiving the mitochondrial disease diagnosis in February. Rosendo’s third birthday will be in November.

After the initial diagnosis, Mayra traveled with her son and his nurse to San Antonio for treatments, took him to physical therapy five times a week and gave him vitamins and other medicines to keep him alive. She was told many children with the disease do not live past childhood.

But she was determined to do all she could for Rosendo.

She became involved with the United Mitochondrial Disease Foundation, which is dedicated to raising money for research and education for the disease. It was through the foundation that she traveled to San Diego this summer for the seminar where she met Koenig.

She took Rosendo to Koenig’s office, where the doctor ran additional tests on the boy.

When she received a call from Koenig on Aug. 28 telling her that Rosendo in fact did not have mitochondrial disease but cerebral folate deficiency, Mayra said her prayers were answered.

“I was at Wal-Mart and started crying at the store. I cried so much that night I had a headache,” she said. “It’s been two and a half years of hell.”

Already seeing a difference

Rosendo began the folinic acid treatment last week, and Mayra and Sonia Garza, Rosendo’s home health nurse, said they already see a difference in the boy.

“He’s been more active and pays attention,” Garza said. And he is laughing, something he could not do before.

One of Rosendo’s therapists, Jennifer Griffith, who co-owns Milestones children’s therapy clinic in McAllen, said she plans to change Rosendo’s regimen to a more structured and intense routine to keep him from regressing. She also plans to increase his sessions by an hour each day.

“We’re all very excited and hopeful for his future,” Griffith said.

Mayra said she plans to continue to help the United Mitochondrial Disease Foundation because she understands the stress parents go through caring for a child with such a disease.

And she will continue to make sure her son gets the best treatment, looking forward to his full recovery.

“When you’re going through hell, keep going,” she said.