||Teacher Elena Recio is glad to work near NIH.
"I said to myself, 'Chevy Chase! That's near Bethesda, and NIH," said Recio, who has taught first grade in Rock Creek Forest Elementary School's Spanish immersion program since fall 2004. The school is located about 3 miles from NIH, just off East-West Hwy. "I deliberately picked Maryland, because of NIH, but I could have been assigned anywhere from Ocean City to Baltimore.
I was very lucky."
She was born with lipodystrophy,
a rare, heritable
disorder. "The worldwide
prevalence of genetic forms of generalized lipodystrophy
is estimated to be 1 in 10,000,000," said Gorden. "Our patients come from many different countries.
Recio explains the disorder
this way: "With this disease, you don't have the fat layer lying just below the skin that covers the entire body. Any lipids (fats) or grease that you eat goes straight to the bloodstream, dramatically elevating your cholesterol."
Her cholesterol level was so high prior to treatment
(800 mg/dL, when normal is below 200) that her doctor told her he had never seen anyone
alive with that number. "He told me I had the lipid profile of a corpse."
Recio was not diagnosed correctly until she was an adult, and then only because the physician who was treating her in Spain had trained at Johns Hopkins, and was familiar with hyperlipidemia
and other rare disorders. He was also familiar with NIH, to which he referred her in December 2002.
By then, Recio had staggered along with a number
of diagnoses, including diabetes, which was caught at age 12. She began insulin injections then, and learned 3 years later that she had insulin-resistant diabetes. She was still taking 850 units of insulin a day when she was first evaluated at NIDDK, but within 4 months had responded so well to a new therapy-leptin-that she was able to stop insulin altogether.
"The leptin made my body recognize my own insulin," Recio explains. "Prior to leptin, my body rejected it."
|Srta. Recio has been a popular first grade teacher in Rock Creek Forest Elementary School's Spanish immersion program for the past 3 years.
During her first 4 months at NIH, Recio was taking seven injections a day of leptin and insulin.
"It was crazy," she remembers. Since April 2003, she has taken leptin shots at first twice daily, then tapering to once a day.
She was an inpatient on first arrival, staying
in the CC for 9 days. "That was really hard," she said. She then switched to quarterly visits and now comes just twice a year for checkups, usually lasting 2 days.
"I will be taking leptin for the rest of my life," she said, "and I will be seen indefinitely at NIH. Some of the other people on my protocol
have been coming to NIH for 7-8 years."
Recio said leptin makes it very difficult to gain weight and has made her borderline anemic, but her cholesterol level is down to about 97. "My triglyceride level fell from around 2,500 to about 110 within 4 months." She also lost 40 pounds in half a year; the insulin therapy had left her bloated and had enlarged her liver and pancreas. "Some people thought I was pregnant,"
Now that she is on leptin, Recio can eat anything she wants and drink moderately, a practice that had been forbidden prior to the medication.
"All systems are normal," she says, adding that the leptin had even ridded her of acanthosis, a side effect of lipodystrophy that leaves the skin of the neck and joints roughened and darkly discolored. "It has been like a miracle for me."
"NIH is the best thing in the world. There should be a bunch of them all over the world. All of my life, the doctors said no one else has my disease and they cannot help me."
Leptin was discovered through an NIDDK extramural initiative on the genetics of obesity,
Gorden explained, and was found to be the defective protein from a gene isolated in an obese mouse model. "Thus, this created
a whole new field of endocrinology-i.e. the recognition that the fat cell is an endocrine
organ-and that it secretes hormones, one of them being leptin. Leptin was given to obese patients and was ineffective, except in a rare group of obese patients that suffer the same genetic abnormality as the obese mouse (Ob/Ob mouse). Because Ms. Recio has lipodystrophy,
and very few fat cells, her serum leptin concentrations are very low. When given
leptin replacement therapy, she and other patients like her have had a remarkable correction
of their metabolic disorders, such as diabetes,
and the serum lipid derangement seen in these patients. Thus, we do not replace her fat cells, but we do replace a hormone that fat cells secrete and that has a remarkable effect on her metabolic function and her sense of well-being. It is very important that this is an effective
therapy for a rare disease, but we are only beginning to understand how leptin might be used in a broader context to treat a variety of other more common disorders."
Recio's J-1 visa expires in July, so this month she expects to return home to Madrid and seek a job teaching English to elementary school students. But she will return to NIH every 6 months.
"NIH is the best thing in the world," she says, singling out Gorden and nurse Elaine Cochran, who has managed her care. "There should be a bunch of them all over the world. All of my life, the doctors said no one else has my disease and they cannot help me. And you never think that you can recover from diabetes. This has been a huge experience for me."
Her health restored, Recio can now indulge her passions for travel, live music, teaching and meeting new people. "About the only limitation
I have is that my medication has to be kept refrigerated, so when I traveled to Central America recently, I had to keep a cooler of ice with me."
Recio notes that, in Spain, if people hear you are receiving medical treatment in the U.S., they automatically assume you have cancer. The NIH experience has given her "wonderful things to say about Americans. For me, life has changed in all senses. I feel better. I'm becoming