This is a story of my son Beckett and his diagnostic odyssey. This is the real story behind finding a diagnosis of an Ultra Rare Disease, coping with the life of raising a child with special needs, and dealing with all that entails it, from financial strain, marital problems, siblings, and more. There are 7000 rare diseases. 1 in 10 Americans have a rare disease. 95% percent of those do not have an FDA-approved treatment. This is my quest to find treatments for my son and ones like him to have a chance at a better quality of life. Buy it Here

Neurodevelopmental disorders often result in sensory processing deficits in addition to cognitive impairments. However, the biological mechanisms that underlie impaired sensory processing associated with neurodevelopmental disorders are generally understudied and poorly understood. We found that SYNGAP1 haploinsufficiency in humans, which causes a sporadic neurodevelopmental disorder defined by cognitive impairment, autistic features, and epilepsy, also leads to deficits in tactile-related sensory processing. November 26, 2018, Nature Neuroscience

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators Feb 2, 2018, Journal of Neurodevelopmental Disorders

To describe the prevalence and characteristics of comorbidities in persons with rare epilepsies. Persons with rare epilepsies and caregivers of those affected were recruited through the Epilepsy Foundation and more than 30 rare epilepsy advocacy organizations affiliated with the Rare Epilepsy Network (REN). Oct 2, 2018, The Journal of Pediatrics

NORD gratefully acknowledges Dr. Jacques L. Michaud, Department of Medical Genetics, CHU Sainte-Justine, Montreal, Quebec; Jimmy L. Holder Jr., Assistant Professor of Pediatrics and Neurology, Baylor College of Medicine; Constance L. Smith-Hicks MD, PhD, Kennedy Krieger Institute; Shaowen Ju, Johns Hopkins University School of Medicine; Gavin Rumbaugh, PhD, Associate Professor, Department of Neuroscience, Scripps Florida; Thomas K. Creson, PhD, Research Associate, Department of Neuroscience, Scripps Florida; and Monica Weldon, President, Bridge the Gap – SYNGAP Education and Research Foundation, for the preparation of this report.

Neurodevelopmental disorders often result in sensory processing deficits in addition to cognitive impairments. However, the biological mechanisms that underlie impaired sensory processing SYNGAP1-NSID are thought to result from limited functional levels of SynGAP protein, a protein critical in proper brain development and function. Predominantly affecting children, SYNGAP1 mutations lead to developmental delay, intellectual disability, and additional symptoms that are common with other causes.

This study examines the impact of pediatric sleep disturbances and night-time seizure monitoring in children with rare epilepsy syndromes on the sleep quality and mental health of their caregivers. Using data from the Rare Epilepsy Network, the study found that children's sleep issues, such as difficulty falling asleep and frequent awakenings, were strongly associated with increased caregiver fatigue, sleep disturbances, and poor sleep quality. Additionally, higher levels of caregiver anxiety and depression were linked to these sleep challenges, while factors like companionship and better cognitive function provided some protection. The study underscores the heavy burden on caregivers, suggesting that their mental health may be adversely affected by the demands of caring for children with rare epilepsies. Journal of Pediatrics · May 2, 2020

This eBook explores financial, operational, logistical, and manufacturing-related obstacles to producing treatments for rare diseases. First, BPI Senior Technical Editor Cheryl Scott shares insights from a recent conversation with Jim Faulkner (now a consultant, formerly head of vice president of rare disease manufacturing and supply at GlaxoSmithKline) about the practicalities of orphan drug development. Then Scott presents her virtual roundtable discussion with Martine Zimmermann (senior vice president and global head of regulatory affairs at Alexion Pharmaceuticals), Tania Pereira Chilima (chief technology officer at Univercells Technologies), and Monica Weldon (founder, president, and chief executive officer of Bridge the Gap — SYNGAP Education and Research Foundation) about the risks and rewards of developing rare disease treatments. Finally, Scott Gray (co-founder and chief executive officer of Clincierge) describes how patient-support service providers can improve access to clinical trials with rare-disease indications for patients with significant logistical and economic barriers. BioProcess International · Oct 12, 2021

To estimate the impact of the COVID-19 pandemic on health-related quality of life (HQoL) outcomes in children with rare disorders. To explore mechanisms which explain how families buffered COVID-19 induced stress. Value in Health · Dec 22, 2022

The SYNGAP1 Foundation, formerly Bridge the Gap – SYNGAP Education and Research Foundation, hosted and conducted an Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting on November 19, 2020. In recognition that SYNGAP1 patients and caregivers are the experts on their disease, we came together to hear directly from individuals and caregivers living with SYNGAP1-related Disorders. Their shared stories of lived experience of SYNGAP1-related disorder symptoms, subsequent daily impacts, experiences with available treatments and outcomes, and their preferences for future therapies were shared with representatives from the Food and Drug Administration (FDA), National Institutes of Health (NIH), industry partners, academic investigators, clinicians, and SYNGAP1 families, caregivers, and other stakeholders were present via live webcast. SYNGAP1 Foundation · Apr 18, 2023