Living with Chronic respiratory distress with surfactant metabolism deficiency
A rare genetic lung disease with a wide range of effects, from breathing trouble in newborns to scarring lung disease at other ages.
Understanding Chronic respiratory distress with surfactant metabolism deficiency
It ranges from respiratory distress in newborns to mild or severe interstitial lung disease. A lung biopsy shows damage, thickening, and scarring in the lung tissue. Imaging shows cystic spaces and a hazy, ground-glass look. GARD lists onset at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD says typical symptoms include:
- Cough
- Fast breathing
- Low oxygen levels
- Clubbing of the fingers
- Crackling sounds in the lungs
- Poor growth (failure to thrive)
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 genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in SFTPC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Interstitial Lung Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Children's Interstitial Lung Disease Foundation
- 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 Children's Interstitial Lung Disease Foundation
- 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 says changes in the SFTPC gene cause this condition. It is autosomal dominant, so one changed copy of the gene can be enough.
Patient organizations
- Children's Interstitial Lung Disease FoundationChronic respiratory distress with surfactant metabolism deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Chronic respiratory distress with surfactant metabolism deficiency.
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