Living with SFTPC-related interstitial lung disease
A genetic lung disease from a lack of a lung protein, ranging from serious breathing trouble in babies to no symptoms in adults.
Understanding SFTPC-related interstitial lung disease
The disease spreads through the lungs and varies a lot between people. Some babies have serious breathing problems, while some adults have no symptoms. In infancy it can cause fast or hard breathing, cough, wheezing and a bluish skin color, with or without poor weight gain. Chest imaging can show changes in the lung tissue. Onset happens at a variety of ages.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, symptoms in infancy may include:
- Hard or fast breathing
- Cough
- Wheezing
- Bluish skin color (cyanosis)
- Poor weight gain (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 lists changes in the SFTPC gene, which lead to a lack of surfactant protein C. It is inherited in an autosomal dominant pattern.
Also known as: interstitial lung disease due to sp-c deficiency; interstitial lung disease due to surfactant protein c deficiency; sftpc-related ild
Patient organizations
- Children's Interstitial Lung Disease FoundationSFTPC-related interstitial lung disease · United States
You are more than your diagnosis
Perspectives from people navigating life with SFTPC-related interstitial lung disease.
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