Tertiary care centres must do more for patients with unknown conditions: Lessons learned from a child
Bibliographic record
Abstract
Postural Orthostatic Tachycardia Syndrome (POTS) is a debilitating disease with a commonly non-uniform and unspecific presentation that makes diagnosis difficult. A twelve-year-old girl, recently diagnosed with Addison’s Disease, was referred to paediatric nephrology for Fludrocortisone-induced nocturnal hypertension. She had fallen off the growth curve for both height and weight from the 50th percentile at birth to below the 5th percentile at presentation. The severity and multitude of her symptoms, including muscle weakness, poor body control, dizziness, light headedness, persistent fatigue, excessive sweating, tachycardia, chronic constipation and recurrent infection hinted at the unusual nature of this case of Addison’s. At the time of referral, she had been seen by more than a dozen specialists and subspecialists as well as undergone a number of tests including neurophysiological testing without sufficient explanation. With the help of tilt-table testing, we established the diagnosis of POTS. There is a lack of tested treatment options for POTS, and we established dosing of pyridostigmine in children, based on the emerging literature in adults. While pyridostigmine therapy substantially improved her quality of life, it took another 6 years and referral outside the country, before a final unifying diagnosis was made. Eventually, the patient was diagnosed with Ehlers Danlos Syndrome with associated autonomic dysfunction, including POTS, as well as primary adrenal insufficiency. The parents and the patient experienced considerable stress due to the lack of willingness of many physicians that the family encountered to search for a diagnosis and a treatment.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".