Nevada Family Finds Expert Care for Rare Genetic Condition

When Kelly Gould became pregnant with her son, the Las Vegas resident, like any mother-to-be, was worried about potential complications. Still, when her doctor recommended further genetic testing after a routine 30-week growth scan, she was caught off guard.

"They noticed that all the long bones were measuring below the 1 percentile. So, he let us know that he suspected some sort of skeletal dysplasia," said Gould, 42. "This wasn't on the radar at all."

Two weeks later, detailed genetic testing confirmed skeletal dysplasia, specifically achondroplasia.

Skeletal dysplasia, also known as dwarfism, is a group of disorders that affect bone, joint and cartilage growth in a child. Achondroplasia is the most common form. The rare genetic disorder occurs in about 1 in 40,000 births. The condition is characterized by birth complications, shorter bones and limbs and delayed developmental milestones. People with skeletal dysplasia typically require long-term medical follow-up and monitoring.

Navigating Care

With limited access to specialized care in Nevada, Gould and her husband, John, initially flew to Philadelphia to meet with a team of specialists.

As they processed the shock of the diagnosis and the slew of medical challenges that lay ahead, it quickly became apparent that spending extensive time on the East Coast wouldn't be ideal due to lack of family support.

The couple, who have five children, contacted Moise Danielpour, MD, a pediatric neurosurgeon highly skilled in pediatric skeletal dysplasia treatments and a medical board member at Little People of America.

To the Goulds' surprise, within 15 minutes, they got a call from Danielpour, director of the Pediatric Neurosurgery Program at Cedars-Sinai Guerin Children's.

Danielpour looped in a comprehensive team of specialists, including Pedro Sanchez, MD,director of Pediatric Medical Genetics at Guerin Children's.

"Dr. Sanchez called me 10 minutes later and we probably talked for 90 minutes," John Gould said. "It was a really personal conversation. I didn't feel like I was speaking to a doctor."

For Elliot's birth and long-term care, the Goulds chose Cedars-Sinai, where, coincidentally, John and his twin sister were born in 1976.

On May 6, 2023, Kelly gave birth to Elliot at 35 weeks via cesarean section with more than 20 medical professionals in the delivery room ready in case of an emergency.

"We were prepared for the worst at birth," Kelly Gould said. "He came out crying, and that was such a big deal because we weren't sure that might happen due to breathing complications associated with achondroplasia."

Even though Elliot had respiratory and feeding issues due to his small chest size and required continuous oxygen support, the parents were able to take their newborn home to Las Vegas after spending nearly a month at the Neonatal Intensive Care Unit at Cedars-Sinai Guerin Children's. Unfortunately, at 8 weeks old, Elliot stopped breathing and had to be airlifted back to Cedars-Sinai from Las Vegas for emergency spinal surgery.

The surgery was necessary to treat Elliot for foramen magnum stenosis (FMS), a potentially life-threatening condition commonly associated with achondroplasia that significantly increases the risk of sudden death.

FMS occurs when the opening at the base of the skull through which the spine passes becomes very narrow or kinked, putting pressure on the junction where the brain and the spinal cord meet. Severe FMS in infants under 2, such as in Elliot's case, can cause breathing problems and delays in crawling and walking.

"To relieve FMS symptoms, we go in and very carefully expand or increase the size of the foramen magnum by taking out the appropriate bone and making that size more normal so there isn't compression of the brain stem and spinal cord due to narrowness or stenosis at the opening of the skull," said Danielpour, who performed Elliot's surgery. "This was not a surprise to the parents, but they hadn't expected it when Elliot was 60 days old. But we helped them deal with the care he needed afterward and have the best outcome possible."

A New Path to Growth

About 99% of achondroplasia cases stem from a spontaneous mutation in a gene called FGFR3. This mutation disturbs the average pace of bone growth, resulting in short limbs and dwarfism. Doctors said the mutation is unrelated to the age of the mother.

In 2021, the United States Food and Drug Administration (FDA) approved a growth therapy drug called vosoritide (VOXZOGO). This once-daily drug was approved to boost bone growth and improve muscle tone while stabilizing head growth in children 5 and older.

A few months after Elliot's birth, in October 2023, the FDA expanded the drug's usage for newborns and children of all ages with achondroplasia.

As the Goulds came to find out, though, getting their hands on this groundbreaking drug in Las Vegas was both tricky and time-consuming. They waited more than 10 weeks for the medication to arrive. It never did.

So the parents contacted Sanchez for help; he arranged for the medication to arrive.

"Dr. Sanchez is the reason Elliot has the drug," John Gould said. "And we did the first injection at Cedars-Sinai. They walked us through it with the nursing team, and we knew we had come to the right place."

Now the Goulds, with Elliot in tow, visit Sanchez's clinic every three months for regular follow-ups, and Elliot is already showing some improvements.

"Hopefully, the medication will allow Elliot to get the signal to start growing again. Not only should it affect the long bones, but probably all bones and should also allow the rest of his anatomy to adapt appropriately," Sanchez said.

As for Elliot, John can't wait to see what his youngest son will bring to the world.

"I know life is going to be really challenging for Elliot," John Gould said. "We just want him to be in the best position where he goes through life as anybody else would and has those same opportunities without really thinking about achondroplasia, though it will always be a part of him."

Read more on the Cedars-Sinai Blog: A High-Risk Pregnancy Lifeline

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