Living with Shwachman syndrome
A genetic condition affecting the bone marrow, pancreas and bones, with frequent infections and trouble digesting food.
Understanding Shwachman syndrome
The bone marrow doesn't make enough of some blood cells. Low neutrophils (a white blood cell) cause infections in the lungs, ears or skin, and some people also have anemia or low platelets. The pancreas may not make enough enzymes to digest food, leading to poor growth. People also have a higher chance of serious blood conditions. It appears at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low white blood cells (neutropenia)
- Frequent infections
- Trouble digesting fat
- Poor weight gain and slow growth
- Anemia or low platelets
- Bone differences
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 allergy and immune system specialists, blood and bone marrow specialists, bone and joint specialists and brain and nervous system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Shwachman-Diamond Syndrome Foundation, Little People of America and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Blood and bone marrow specialists (hematologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists)
- Expert care
- Expert lists: Shwachman-Diamond Syndrome Foundation, Little People of America, Immune Deficiency 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 Shwachman-Diamond Syndrome Foundation and other patient organizations
- 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 genes cause this condition, but it doesn't list a gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: congenital lipomatosis of pancreas; metaphyseal chondrodysplasia with pancreatic insufficiency and neutropenia; metaphyseal chondrodysplasia, shwachman type; metaphyseal dysplasia with malabsorption and neutropenia; pancreatic insufficiency and bone marrow dysfunction; schwachman-bodian syndrome
Patient organizations
- Shwachman-Diamond Syndrome FoundationShwachman syndrome · United States
- Little People of AmericaShwachman syndrome · United States
- Shwachman-Diamond Syndrome AllianceShwachman syndrome · United States
- Jeffrey Modell FoundationShwachman syndrome · United States
- National Neutropenia NetworkShwachman syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Shwachman syndrome.
Explore research for Shwachman syndrome
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