The patient journey to diagnosis and treatment of autoinflammatory diseases
Abstract Background Limited data are available on the experiences of patients with autoinflammatory diseases (AIDs) and their families along the path to diagnosis and treatment. We sought to describe these experiences in patients with AIDs including tumor necrosis factor receptor-associated periodic...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-09-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-018-0902-7 |
| _version_ | 1828931924383498240 |
|---|---|
| author | Jonathan S. Hausmann Kathleen G. Lomax Ari Shapiro Karen Durrant |
| author_facet | Jonathan S. Hausmann Kathleen G. Lomax Ari Shapiro Karen Durrant |
| author_sort | Jonathan S. Hausmann |
| collection | DOAJ |
| description | Abstract Background Limited data are available on the experiences of patients with autoinflammatory diseases (AIDs) and their families along the path to diagnosis and treatment. We sought to describe these experiences in patients with AIDs including tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS), and familial Mediterranean fever (FMF). Methods Ninety-minute, semi-structured qualitative interviews and 5-day written/video diaries were used to gather information on the experiences of patients with AIDs and their families. Results Twelve families of patients from the US (TRAPS [n = 4], MKD/HIDS [n = 5], FMF [n = 5]) participated in this study from August to November 2015. The study included two families with multiple afflicted siblings. Patients’ ages ranged from 1 to 28 years. Most parents reported realizing that something was seriously wrong with their child after medical emergencies and/or hospitalizations, which initiated the difficult path to diagnosis. For most, the process included multiple specialist visits, extensive and repeated testing, and many misdiagnoses. Over time, 92% of parents reported losing confidence in the healthcare system’s ability to find an answer to their child’s symptoms, while they also struggled with unsupportive school personnel and dismissive friends and relatives. Patients and their parents reported holding on to memories of “what life was like” before the onset of symptoms and mourning their subsequent loss of “normalcy.” Even after diagnosis, patients and parents continued to feel uncertain about what to expect in the future. Conclusions All families emphasized the need for efficient early diagnosis of AIDs. Initiatives that improve the speed and accuracy of diagnosis, provide more comprehensive patient education, and support patients and families through the illness have the potential to significantly improve the quality of life of patients with AIDs and their families. Healthcare providers should be aware of the impact of the long diagnostic journey on families and work to create an environment of trust and collaboration in the face of a difficult and prolonged diagnostic process. |
| first_indexed | 2024-12-14T00:55:01Z |
| format | Article |
| id | doaj.art-d2a02adaccb24d7a872a2f647720097c |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-14T00:55:01Z |
| publishDate | 2018-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-d2a02adaccb24d7a872a2f647720097c2022-12-21T23:23:38ZengBMCOrphanet Journal of Rare Diseases1750-11722018-09-011311710.1186/s13023-018-0902-7The patient journey to diagnosis and treatment of autoinflammatory diseasesJonathan S. Hausmann0Kathleen G. Lomax1Ari Shapiro2Karen Durrant3Boston Children’s HospitalNovartis Pharmaceuticals CorporationFlince ResearchAutoinflammatory AllianceAbstract Background Limited data are available on the experiences of patients with autoinflammatory diseases (AIDs) and their families along the path to diagnosis and treatment. We sought to describe these experiences in patients with AIDs including tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS), and familial Mediterranean fever (FMF). Methods Ninety-minute, semi-structured qualitative interviews and 5-day written/video diaries were used to gather information on the experiences of patients with AIDs and their families. Results Twelve families of patients from the US (TRAPS [n = 4], MKD/HIDS [n = 5], FMF [n = 5]) participated in this study from August to November 2015. The study included two families with multiple afflicted siblings. Patients’ ages ranged from 1 to 28 years. Most parents reported realizing that something was seriously wrong with their child after medical emergencies and/or hospitalizations, which initiated the difficult path to diagnosis. For most, the process included multiple specialist visits, extensive and repeated testing, and many misdiagnoses. Over time, 92% of parents reported losing confidence in the healthcare system’s ability to find an answer to their child’s symptoms, while they also struggled with unsupportive school personnel and dismissive friends and relatives. Patients and their parents reported holding on to memories of “what life was like” before the onset of symptoms and mourning their subsequent loss of “normalcy.” Even after diagnosis, patients and parents continued to feel uncertain about what to expect in the future. Conclusions All families emphasized the need for efficient early diagnosis of AIDs. Initiatives that improve the speed and accuracy of diagnosis, provide more comprehensive patient education, and support patients and families through the illness have the potential to significantly improve the quality of life of patients with AIDs and their families. Healthcare providers should be aware of the impact of the long diagnostic journey on families and work to create an environment of trust and collaboration in the face of a difficult and prolonged diagnostic process.http://link.springer.com/article/10.1186/s13023-018-0902-7Autoinflammatory diseasesPatient journeyDisease experiencePsycho-social dynamicsParent experience |
| spellingShingle | Jonathan S. Hausmann Kathleen G. Lomax Ari Shapiro Karen Durrant The patient journey to diagnosis and treatment of autoinflammatory diseases Orphanet Journal of Rare Diseases Autoinflammatory diseases Patient journey Disease experience Psycho-social dynamics Parent experience |
| title | The patient journey to diagnosis and treatment of autoinflammatory diseases |
| title_full | The patient journey to diagnosis and treatment of autoinflammatory diseases |
| title_fullStr | The patient journey to diagnosis and treatment of autoinflammatory diseases |
| title_full_unstemmed | The patient journey to diagnosis and treatment of autoinflammatory diseases |
| title_short | The patient journey to diagnosis and treatment of autoinflammatory diseases |
| title_sort | patient journey to diagnosis and treatment of autoinflammatory diseases |
| topic | Autoinflammatory diseases Patient journey Disease experience Psycho-social dynamics Parent experience |
| url | http://link.springer.com/article/10.1186/s13023-018-0902-7 |
| work_keys_str_mv | AT jonathanshausmann thepatientjourneytodiagnosisandtreatmentofautoinflammatorydiseases AT kathleenglomax thepatientjourneytodiagnosisandtreatmentofautoinflammatorydiseases AT arishapiro thepatientjourneytodiagnosisandtreatmentofautoinflammatorydiseases AT karendurrant thepatientjourneytodiagnosisandtreatmentofautoinflammatorydiseases AT jonathanshausmann patientjourneytodiagnosisandtreatmentofautoinflammatorydiseases AT kathleenglomax patientjourneytodiagnosisandtreatmentofautoinflammatorydiseases AT arishapiro patientjourneytodiagnosisandtreatmentofautoinflammatorydiseases AT karendurrant patientjourneytodiagnosisandtreatmentofautoinflammatorydiseases |