# Bare Your Rare > Patient-led rare disease information and research resources, written by and for people living with ultra-rare conditions. Bare Your Rare (BYR) is run by Thomas Cheesman, a Canadian living with Hajdu-Cheney Syndrome (HCS) — one of fewer than 100 documented cases worldwide. The site documents five rare and ultra-rare conditions with plain-language patient guides, personal stories, treatment summaries, and curated research links. Content is written for patients, caregivers, and the clinicians who may have never seen a given condition before. ## Pages - [Bare Your Rare | Rare Disease Patient Stories & Research Resources](https://bareyourrare.org/): Homepage. Introduces the mission: rare disease patients connecting dots, sharing lived experience, and making research accessible. Covers the five documented conditions and links to patient guides, personal stories, and resources. - [Fechtner Syndrome (MYH9-Related Disease): Symptoms, Diagnosis & Management](https://bareyourrare.org/fechtner/): Fechtner Syndrome is a subtype of MYH9-Related Disease — a group of rare autosomal dominant disorders caused by mutations in the MYH9 gene, which encodes the non-muscle myosin IIA heavy chain. Features include macrothrombocytopenia (large, low-count platelets), progressive kidney disease, sensorineural hearing loss, cataracts, and characteristic Döhle-like inclusion bodies in neutrophils. This page covers the MYH9 mutation mechanism, the spectrum of MYH9-RD subtypes, diagnostic criteria, and management strategies for each system affected. - [Hajdu-Cheney Syndrome (HCS) Guide: Symptoms, Care & Patient Tips](https://bareyourrare.org/hcs-guide/): Comprehensive plain-language guide to Hajdu-Cheney Syndrome, an ultra-rare autosomal dominant disorder caused by mutations in the NOTCH2 gene. Fewer than 100 cases have been documented worldwide. Characterized by progressive acro-osteolysis (bone resorption in the fingers and toes), severe osteoporosis, craniofacial changes, Wormian bones, and potential cardiovascular, renal, and neurological complications. Covers NOTCH2 pathophysiology, symptom progression across the lifespan, current management approaches (bisphosphonates, surgical interventions), and practical guidance for patients and families. - [My 45-Year Journey Living with Hajdu-Cheney Syndrome (HCS) | Personal Story](https://bareyourrare.org/hajdu-cheney-syndrome/): First-person account by Thomas Cheesman, one of two known Canadians with Hajdu-Cheney Syndrome, diagnosed at age 3–4. Documents 45 years of living with progressive acro-osteolysis, five or six distinct phases of bone loss in fingers and toes, multiple CT scans and imaging findings, medication history including bisphosphonates, and the reality of managing an ultra-rare condition in a healthcare system with limited specialist familiarity. Includes a full medication history and reflections on why he built this site. - [POEMS Syndrome: Symptoms, Diagnosis Criteria & Treatment Guide](https://bareyourrare.org/poems/): POEMS is a rare paraneoplastic syndrome driven by a clonal plasma cell disorder. The acronym covers Polyneuropathy, Organomegaly, Endocrinopathy, M-protein, and Skin changes, but the underlying driver is chronic cytokine excess — particularly VEGF — that disrupts vascular biology, immune signaling, peripheral nerve function, and multiple endocrine axes simultaneously. Covers Mayo Clinic diagnostic criteria, the VEGF mechanism, treatment approaches (autologous stem cell transplant, radiation for localized disease, lenalidomide-based regimens), and how to distinguish POEMS from CIDP and other neuropathies. - [Erdheim-Chester Disease (ECD): Symptoms, Treatments & Patient Guide](https://bareyourrare.org/ecd/): Erdheim-Chester Disease is a rare non-Langerhans histiocytosis driven in most cases by somatic BRAF V600E mutations that create constitutively active MAPK signaling — a stuck-ON growth switch in histiocytes. Covers the foamy histiocyte infiltration pattern, hallmark imaging findings (bilateral femoral cortical sclerosis, periaortic soft tissue, retroperitoneal fibrosis), multisystem involvement (cardiovascular, CNS, endocrine, pulmonary), BRAF and non-BRAF mutation landscape, and targeted therapies including vemurafenib and cobimetinib. - [Stiff Person Syndrome (SPS): Symptoms, Treatments & Patient Guide](https://bareyourrare.org/sps/): Stiff Person Syndrome is a rare autoimmune CNS disorder characterized by progressive muscle rigidity, painful spasms, and heightened sensitivity to stimuli. Caused primarily by antibodies against glutamic acid decarboxylase (GAD65), which impair GABA synthesis and disinhibit motor neurons. Covers the GAD65 mechanism, SPS variants (classic SPS, SPS-plus, PERM, focal forms), diagnostic approach (GAD65 antibody titers, electromyography), current therapies (diazepam, baclofen, IVIG, rituximab), and emerging treatments including the KYSA-8 trial results. - [HCS Blue & Gold Fundraiser | First-Ever Hajdu-Cheney Syndrome Research Conference](https://bareyourrare.org/fundraiser/): Fundraiser supporting Gia's family, who are organizing the first-ever Hajdu-Cheney Syndrome research conference. When their daughter was diagnosed with HCS, they responded by building the foundation and securing the conference. This page supports their campaign and links to donation options. - [Rare Disease Resources, Registries & AI Tools | Bare Your Rare](https://bareyourrare.org/resources/): Curated links to rare disease patient registries, research databases (Orphanet, NORD, OMIM, ClinVar), clinical trial finders, AI tools useful for rare disease patients and caregivers, and advocacy organizations. Organized to help patients and families navigate resources that are often scattered across academic and clinical sources. - [FAQ | BYR Common Questions](https://bareyourrare.org/faq/): Frequently asked questions about Bare Your Rare — the site's purpose, how content is sourced and reviewed, how to submit a story or correction, and general guidance for rare disease patients seeking information. - [About Bare Your Rare | Patient-Led Stories for Ultra-Rare Diseases](https://bareyourrare.org/about/): Background on Thomas Cheesman and the founding of Bare Your Rare. Explains the site's mission of making rare disease information accessible to patients, caregivers, and clinicians, and why patient-authored content matters in conditions where specialist familiarity is limited. - [Contact | Bare Your Rare](https://bareyourrare.org/contact/): Contact form for questions, story submissions, factual corrections, and media inquiries. Response within 48 hours. - [Privacy Policy](https://bareyourrare.org/privacy/): How Bare Your Rare handles personal information, newsletter subscriptions, contact form submissions, and analytics data. - [Terms Of Use](https://bareyourrare.org/terms/): Terms governing use of Bare Your Rare, including the medical disclaimer (content is for informational purposes and not a substitute for clinical advice), content ownership, and acceptable use. - [Accessibility statement](https://bareyourrare.org/accessibility/): Bare Your Rare's WCAG 2.1 AA conformance statement, known limitations, and contact method for accessibility issues. The site includes an accessibility toolbar with text scaling, line height, letter spacing, grayscale, and high-contrast controls. ## Optional - [Agent (MCP protocol)](websites-agents.hostinger.com/bareyourrare.org/mcp) [comment]: # (Generated by Hostinger Tools Plugin — descriptions updated manually April 2026)