Living with DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
A rare genetic condition with progressive, severe hearing loss starting in childhood and a mildly low platelet count.
Understanding DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
The hearing loss is severe and begins in the first decade of life. Platelets, which help blood clot, are mildly low and often larger than normal. Most people do not have significant bleeding problems. GARD lists onset from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Progressive hearing loss
- Low platelet count (thrombocytopenia)
- Large platelets
- Low neutrophil count
- Iron deficiency anemia
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
Specialists who may be involved include blood and bone marrow specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in DIAPH1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- 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
Changes in the DIAPH1 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: diaph1-related sensorineural deafness-thrombocytopenia syndrome; diaph1-related sensorineural deafness, thrombocytopenia syndrome; diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome
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 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome.
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