Living with Drachtman Weinblatt Sitarz syndrome
A rare genetic condition with underdeveloped bone marrow and nervous system differences, including weakness on one side of the body.
Understanding Drachtman Weinblatt Sitarz syndrome
People with this condition have underdeveloped bone marrow, where blood cells are made. They also have neurological differences, such as weakness on one side of the body, a missing or underdeveloped corpus callosum (the tissue joining the two halves of the brain), and extra fluid in the brain (hydrocephalus).
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Underdeveloped bone marrow
- Weakness on one side of the body
- Missing corpus callosum (part of the brain)
- Extra fluid in the brain (hydrocephalus)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD describes this as a genetic disorder but doesn't describe a specific cause for this condition yet.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Drachtman Weinblatt Sitarz syndrome.
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