The research of Genetic Disease Investigators LLC, Diana Driscoll, OD, President, is resulting in dramatic treatment paradigm shifts for numerous illnesses currently considered “invisible”. Dr. Driscoll’s research began with autonomic dysfunction, POTS, and Chronic Fatigue Syndrome/Myalgic Encephalomyelitis and has expanded to include interstitial cystitis, Multiple Sclerosis, Ehlers-Danlos syndrome (EDS), vascular disorders and brain health.
“Traditional treatment for many invisible illnesses focuses on managing symptoms, but has nothing to do with treating the underlying medical problems causing the illnesses. We can stay in the science for answers, but we must dig deeper. The future of these patients depends on it.” — Dr. Diana Driscoll, Optometrist
Presented February 2012- International Society of Neurovascular Disease.
This study included co-authors Dr. Clair Francomano and Diana Driscoll, OD and involved the evaluation of 60 fundus images of patients with EDS/POTS or multiple sclerosis, as compared to age-matched normals. The vascular abnormalities found allowed a “blinded” doctor to correctly identify patients with EDS/POTS with 90% accuracy. The search for answers then shifted to the cause of these anomalies.
Presented February 2012 — International Society of Neurovascular Disease
This study, co-authored by Dr. William Code and Diana Driscoll, OD revealed the improvement of symptoms of headache, poor sleep, fatigue and cognition in patients with multiple sclerosis with the use of acetazolamide. Although likely multifactorial, undiagnosed idiopathic intraocular hypertension (“IIH”) as a likely cause of symptoms turned research efforts toward the cause of this abnormally high intracranial pressure.
Presented February 2012: International Society Neurovascular Disease
This study, co-authored by Dr. Clair Francomano and Diana Driscoll, OD began the study of the potential role of inflammatory cytokines in the development of left ventricular diastolic dysfunction typically found in both multiple sclerosis and Ehlers-Danlos syndrome patients. By evaluating similarities and differences in these conditions, proposed etiologies were revealed.
June 2012- Optometry’s Meeting
Clinicaltrials.org NCT#01356134 This study included co-authors Dr. Clair Francomano and Diana Driscoll, OD and involved the evaluation of 60 fundus images of patients with EDS/POTS or multiple sclerosis, as compared to age-matched normals. The vascular abnormalities found allowed a “blinded” doctor to correctly identify patients with EDS/POTS with 90% accuracy. The search for answers then shifted to the cause of these anomalies.
Clinicaltrials.org NCT#01367977 Preliminary results of this study revealed abnormally fast growth of head circumferences (as opposed to the lengths and weights) in babies who were later diagnosed with EDS (“Ehlers-Danlos syndrome”) / POTS (“Postural Orthostatic Tachycardia Syndrome”). Enlarged head circumferences as found by this study hinted at, yet could not prove, the presence of high intraocular pressure (“IIH”) in these children. Many of these children were not well and many suffered from an array of neurological symptoms such as seizures, epilepsy, cataplexy, and narcolepsy. Attention then turned to the role of idiopathic intraocular hypertension in both children and adults with EDS/POTS.
An in-house study of inflammatory cytokines in EDS / POTS / Dysautonomia patients revealed the involvement of inflammation in many of these patients, dramatically altering the approach to evaluation and treatment.
An in-house study of six patients with EDS / POTS / Dysautonomia and vascular fibrosis run to find out if abnormal lipo(a) was the cause of their vascular abnormalities. Normal levels were found, so research quickly moved in other directions.
An in-house study of 21 patients with EDS / POTS / Dysautonomia, studying the potential involvement of IIH (Idiopathic Intracranial Hypertension) or IIHWOP (Idiopathic Intracranial Hypertension Without Papilledema), and the effect of acetazolamide (Diamox) on symptoms.
“EDS / POTS / Dysautonomia: evaluation of 165 symptoms and signs”
“Chronic Fatigue Syndrome: evaluation of 165 symptoms and signs”
“Lyme Disease: evaluation of 165 symptoms and signs”
