After 1-month-old Lily Meyers suffered two seizures in the span of two weeks, her parents faced a terribly daunting task: wading through the endless possibilities of what, exactly, was plaguing their daughter.
With the aid of some new technology, however, Lily was not only properly diagnosed but also effectively cured.
Rana and William Meyers eventually learned that their daughter had Congenital Hyperinsulinism, a rare genetic disorder causing low blood sugar in infants and children.
HI occurs when mutations damage insulin-secreting beta cells in the pancreas. If it goes untreated, it leaves babies at risk for seizures and brain damage. The disease can come in two distinct varieties: focal and diffuse. Abnormal cells are either limited to a specific area of the pancreas or spread throughout the organ.
Before the advent of the PET Scan, doctors had a difficult time differentiating between focal and diffuse forms of the disease. A surgeon could diagnose the diffuse form with relative ease, but locating a focal lesion was more a game of luck. At times, doctors could end up performing anywhere from 30 to 40 biopsies in an attempt to locate the cluster of abnormal cells. Patients who could be cured sometimes underwent a 95% pancreatectomy, leaving a child susceptible to a life with diabetes simply because the surgeon did not know where to look, said Charles A. Stanley, chief endocrinologist at the Children’s Hospital of Philadelphia.
“Having been in the era where we didn’t have a PET Scan and did this blindly, that was very scary,” he said. “You never knew what the outcome was going to be, and being able to know in advance and find these focal lesions and cure the babies that are potentially curable — that’s terrific.”
Last February, Lily and her parents traveled to Philadelphia from their San Diego home. In Philadelphia, Lily could undergo a PET Scan test that would allow doctors to locate the abnormal cell cluster and, using a new laproscopic technique, cure her.
“We constantly call her our miracle baby,” Rana said.
In the United States, HI affects 100 to 200 babies annually. It is usually detected within a few days of birth, as infants with HI can have abnormally low blood sugar, a high birth weight and can often suffer from seizures or spells of lethargy. In the general population, one in 50,000 is affected. Among Ashkenazic Jews, the disease is twice as common.
According to Rana, the decision to take her daughter across the country for surgery was not an easy one. Though Lily responded to the medication Octreotide, which is one of two drugs used to try and treat HI without having to go the surgical route, her parents ultimately decided that three shots a day for the rest of her life was something their daughter would have to endure. “We got a lot of flak from our family, saying, ‘Why are you going to put her through that?’” Rana said. “But our feeling was, there is a chance that she can be cured. We decided that was the route to go and to take her out there.”
Once in Philadelphia, Lily was evaluated two weeks before getting the PET Scan to confirm that she in fact had HI. After an oral medication failed to regulate her blood sugar, surgery emerged as the only option.
PET Scans have been used in conjunction with the radioactive compound [18F]-DOPA for more than 20 years. The procedure, however, has been employed in diagnosing hyperinsulinism for only a couple of years. Philadelphia’s Children’s Hospital is currently the only American center conducting the test. Not only does the technique show whether the disease is focal or diffuse, but it also can show doctors precisely where focal lesions are located. The lesion emerges as a little cluster of light.
“It’s like having GPS,” Stanley said.
In a six-hour operation, pediatric surgeon N. Scott Adzick succeeded in removing Lily’s focal lesion.
Since their return to San Diego, the Meyerses have been monitoring their daughter’s recovery with wonder and relief.
“She’s going to be developing and talking more anyway, so it’s hard to tell what it is,” her mother said. “But it sure seems like she has been progressing by leaps and bounds since we’ve gotten back.”