7957 Delayed Diagnosis of Kallmann Syndrome: Journey from Patient to Advocate
Authors: Smith Neil D , Quinton Richard , Lippincott Margaret , Balasubramanian Ravikumar , Seminara Stephanie B , Dwyer Andrew A 
Published: October 2024

Disclosure: N.D. Smith: None. R. Quinton: None. M. Lippincott: None. R. Balasubramanian: None. S.B. Seminara: None. A.A. Dwyer: None.

Background: Rare diseases are associated with a ‘diagnostic odyssey’. Patients have difficulty finding expert care, and have many unmet medical and informational needs placing them in the realm of health disparities. This case highlights the journey from patient to advocate and how patients and providers can co-create solutions to close disparities for rare diseases. Clinical Case: The male patient was born with left sensorineural hearing loss and complete anosmia. He presented for consultation at age 15 for lack of pubertal development, but was considered to be a “late bloomer” and followed with a watchful waiting approach. Over the next 4 years he had 4 further physician consultations - each time perpetuating the presumptive diagnosis of simple delayed puberty. At age 25, while working as a hospital employee, he had an unofficial curbside consultation during lunch break with an endocrinologist at the hospital. Following a brief description of his symptoms, the physician (RQ) inquired about his sense of smell and hearing. This was the first time a provider had asked him about his sensory deficits, and the chance encounter led to a formal endocrine consultation. Evaluation: He was undervirilized (Tanner II) with prepubertal testes (&lt;4 mL); complete anosmia on formal smell testing (SIT 8/14) and 70% deafness (L). Biochemical evaluation revealed LH 0.7 IU/L (0.5–6), FSH 0.9 IU/L (2.7–11), testosterone 0.5 nmol/L (9–30) and otherwise normal pituitary function. MRI showed absent olfactory bulbs & sulci, with no mass lesion. Treatment: He was diagnosed with Kallmann syndrome (KS) and started testosterone replacement therapy (TRT) with testosterone enanthate (250 mg every 2–3 weeks). Follow-up: He remained on TRT and, after several years, progressively came to terms with his diagnosis. Based on his experience of delayed diagnosis and consequent psychosocial challenges, he grew interested in patient advocacy. He established a strong social media presence, created a virtual patient support community, helped found “I am HH”, and partnered with expert clinicians and researchers to create a roadmap for improving KS care. Over the past 15 years, he has been an active patient leader in the KS community, co-organizing numerous international patient meetings, co-creating solutions for unmet informational and psychosocial needs of patients with KS, and co-authoring 11 publications. In 2023, “I Am HH” was recognized with “NORD Gold Status” by the National Organization for Rare Disorders. He is currently working with researchers to develop a patient registry and natural history study for KS. Conclusions: This case highlights the importance of patient activation and advocacy for rare diseases. Partnerships between patients, expert clinicians, and researchers are critical for advancing science and developing more person-centered approaches to care that are responsive to patient priorities.

Presentation: 6/1/2024