Benefits of etiological, gene-based diagnosis include:
1. Misdiagnosis and delays in diagnosis of rare disease patients result in unnecessary office visits, diagnostic tests, hospitalization and inappropriate or inadequate treatment.
2. Knowledge of etiology helps to support medical decisions and improve clinical management.
3. Diagnosis directs urgent care for patients in emergency situations, especially young children or adults who are unable to provide subjective feedback on how they feel, what hurts or where.
4. Family counseling requires accurate diagnosis of an affected child. If the disease gene is known, parents may be advised of reproductive risks in subsequent pregnancies. Families may be able to manage risk by diagnostic testing prior to conception, or in early pregnancy.
5. Some diseases present with chronic health concerns, while others have degenerative trajectories. Early detection enables urgent pre-symptomatic treatment and proactive care for best lifetime outcomes.
6. Families of loved ones with rare diseases benefit from shared experiences and therapeutic strategies. Disease communities are essential in supporting families and researchers, alike.
7. Molecular diagnosis facilitates research into disease mechanism, drives the development of cell line and animal models of disease, and leads to identification of therapeutic targets for drug development. Research may lead to cure or eradication of single gene diseases in the future.
We feel cause for celebration in receiving a diagnosis for our daughters, both now young adults. We're further blessed to have a friend who, despite not having an answer for her own daughters' complex etiologies, has committed to cycle 34 miles in order to raise research dollars for PTHS.
Nancy LeGendre, mother to Julia, age 24, and Lilly, age 22 with PTHS