Artwork: Monica DeSalvo

Rare diseases occupy a lonely space in the world of medicine. 鈥淭hey鈥檙e often called 鈥榦rphan鈥� diseases because they鈥檙e neglected and forgotten about,鈥� says Andrew Dwyer, Ph.D., RN, FNP-BC, an associate professor at the Connell School of Nursing and its interim associate dean for graduate programs. The National Institutes of Health recognizes about 7,000 rare diseases, which are conditions that afflict fewer than 200,000 people in this country.聽

Dwyer has focused much of his research on one, congenital hypogonadotropic hypogonadism (CHH), which prevents the normal onset of puberty. But his ultimate goal is to use the knowledge he acquires studying CHH to develop tools and strategies that support people with a wide range of rare diseases.

His mission could have a broad impact. While the prevalence of any given rare disease is exceedingly small, the collective community of people who with live these uncommon conditions in the United States totals 25鈥�30 million, or roughly the population of the state of Texas. 鈥淭hese patients face health disparities, much like many other marginalized groups,鈥� says Dwyer. 鈥淭hey have difficulty accessing care. They often go without treatment or cure.鈥�

The 鈥渄iagnostic odyssey鈥�

To be sure, patients with rare diseases frequently experience what鈥檚 known as a 鈥渄iagnostic odyssey,鈥� he says, wandering from one puzzled specialist to another, who misdiagnose their condition or throw up their hands. It can take years for a person with a rare disease to find a physician who identifies the source of his or her mysterious symptoms. Worsening matters, people who have uncommon chronic conditions usually don鈥檛 know anyone else with the same (or a similar) diagnosis, and that can cause a profound sense of isolation.

Dwyer鈥檚 goal is to help patients with rare diseases find care and make informed treatment decisions. And, in fact, CHH is a rarity among rare diseases, since therapy can correct the hormonal deficiency that causes it. However, Dwyer鈥檚 research has found that patients and their doctors don鈥檛 always agree on the definition of success in treating CHH.

In his research, Dwyer collaborates with clinicians and researchers around the world. But he also seeks the voices and views of patients, including one who has become a collaborator on several journal articles. 鈥淚 might understand the genetics and the pathophysiology and the pharmacology of treating CHH,鈥� says Dwyer, 鈥渂ut I don鈥檛 know what it鈥檚 like to live with it.鈥�

Rare diseases, by the numbers

7.6

Average number of years it takes a person with a rare disease to get the proper diagnosis in the United States; in the United Kingdom, it鈥檚 5.6 years.

8

Average number of physicians a person with a rare disease consults before getting an accurate diagnosis鈥攆our primary care doctors and four specialists.

2鈥�3

Number of times a rare condition is typically misdiagnosed

Source: Rare Disease Impact Report: Insights from Patients and the Medical Community, Shire Human Genetic Therapies.

Andrew Dwyer

Andrew Dwyer. Photo: Lee Pellegrini

Dwyer grew up in upstate New York and attended Cornell University, where he received a Bachelor of Science degree in Human Development and Family Studies in 1992. He later moved to Boston and, in 2000, obtained a master鈥檚 degree in nursing at the MGH Institute of Health Professions, which last year named him the recipient of its annual Bette Ann Harris Distinguished Alumni Award.

A newly minted family practice nurse practitioner, he next applied for a job as a research assistant/coordinator for Massachusetts General Hospital鈥檚 Reproductive Endocrine Unit. 鈥淭hey had never heard of a nurse practitioner. I had to explain what that was,鈥� he says, recalling a memory that never fails to get a laugh from his students.聽

Dwyer got the Mass General job and worked closely with William F. Crowley Jr, MD, chief of the unit and one of the world鈥檚 leading experts on CHH.

Normally, puberty starts when the brain begins producing gonadotropin-releasing hormone (GnRH), which sets off a cascade of events resulting in the release of testosterone and estrogen, the hormones that are necessary for transforming children into grown-ups. People with CHH are deficient in GnRH; as a result, the process of morphing from child to adult either doesn鈥檛 happen or, less often, it starts but soon halts. However, because there is wide variation in the age at which natural puberty begins, young people with CHH are often dismissed as 鈥渓ate bloomers鈥� and go undiagnosed. 鈥淭hese patients are often identified when they鈥檙e 18 or in their early 20s, and they look like they鈥檙e 12,鈥� says Dwyer.