1. Jeanie Krause-Bachand, EdD, MSN, RN BC Associate Professor York College of Pennsylvania Department of Nursing York PA 17405 Wilma Koopman, RN, MScN, ACNP, CNN(C) Neuromuscular Clinic University of Western Ontario, Health Sciences London Ontario, Canada N6A 5A5 Living with OPMD: A Phenomenological Study

2. Problem Oculopharyngeal Muscular Dystrophy (OPMD) Late-onset myopathy –Ptosis –Dysphagia –Dysphonia –Proximal limb weakness

3. Ptosis

4. Autosomal Dominant

5. Canadian Connection Zacharie Cloutier and Xainte Dupont Single ancestral OPMD carrier chromosome was introduced into the French-Canadian population

6. Background Dr. Guy Rouleau PABPN1 mutation GCG-9 most common Disease “severity”

7. The OPMD Gene

8. Review of the Literature Studies related to “droopy” eyelids Studies related to difficulty swallowing Studies related to living with a genetic disease

9. Research Design Qualitative Tradition –Phenomenology –Lived experience –Inner world of human beings –Uses narration to describe the experience –Naturalistic paradigm

10. Purpose The purpose of this research study was to describe the experience of living with OPMD from the participant’s perspective.

11. Research Questions What is the experience of having “droopy” eyelids? What is the experience of having difficulty swallowing? What is the experience of having a genetic disease?

12. Sample Purposeful Sampling Inclusion Criteria –Diagnosed with OPMD –Display ptosis and/or dysphagia –40 years or older –English-speaking –Consent to tape recording of the interview Data Saturation

13. Demographics Gender Male5 Female5 Age Minimum49 Maximum73 Mean62.9 Ancestry French-Canadian4 Russian1 English1 German4 DATAn = 10

14. Setting Central Canada Neuromuscular Clinic Forty individuals diagnosed with OPMD Participant’s home or private conference room at the clinic

15. Data Collection Methods IRB approval from both institutions Informed consent obtained Unstructured interviews Tape recorded 30 – 60 minutes in length Transcribed verbatim

16. Data Analysis Colaizzi’s Method –Describe the lived experience under investigation –Collect the participants’ descriptions of the experience –Read all the descriptions of the experience –Extract significant statements and articulate the meaning of each

17. Data Analysis –Organize the statements and meanings into themes –Write a narrative description –Return to the participants for validation of the narrative –Incorporate new data into the narrative, if it emerges

18. Findings What is the experience of living with “droopy “eyelids? “Chin up – shoulders back” “Things are not always what they seem”

19. What is the experience of having difficulty swallowing? “Friends and family” “What does the future hold?” Findings

20. What is the experience of having a genetic disease? “Different strokes for different folks” Findings

21. Discussion Negative impact Physiological stress Psychosocial stress Individual burden Family burden

22. Questions