SWAN syndrome is a lovely name for a genetic condition in children that can be frustrating and frightening. SWAN is an acronym for Syndrome Without A Name. Each year, thousands of children are born with genetic conditions that do not fit into any known diagnosis. This can mean years of testing and frustration finding treatment and support. Without a diagnosis, it is very easy for a child to fall through the cracks of the healthcare and social services systems.
What Are the Symptoms?
Signs and symptoms of SWAN do not fit into any known genetic syndrome. They can be different for every child. They may be present at birth or they may develop over time. The main thing they have in common is that there is something not right. Common problems include:
- Developmental delays
- Failure to thrive
- Learning delays or disabilities
- Weak and floppy muscles (hypotonia)
- Stiff and spastic muscles (hypertonia)
- Swallowing or feeding problems
- Unusual facial features or slight deformities
- Breathing problems
Why Is SWAN Hard to Diagnose?
Many children with SWAN never get advanced genetic testing because their symptoms are mild or unusual. Other children have battery of genetic testing but the abnormalities found do not fit into any known condition. They may be told that the genetic changes are of “unknown clinical significance.”
It can take about 5 years before children with SWAN get a diagnosis and many children never do. In fact, according to the National Institutes of Health, up to 4 out of 10 children with special needs never get a specific diagnosis. This is not surprising since there are over 6000 known genetic diseases. Most of these are rare; some are extremely rare. Certainly, there are many that are still unknown.
Because there are so few childcare specialists with access to the latest genetic testing and knowledge about rare genetic syndromes, many children may eventually get tagged with a wrong diagnosis. This can be as bad or worse than having no diagnosis.
What Can Parents Do?
Living with uncertainty is stressful on the whole family. Finding a rare disease specialist or a genetic counsellor can be challenging. Access to the newest – next generation – genetic testing may be limited by insurance coverage. Unfortunately, the key to opening up access to care and support is a diagnosis.
The good news is that there is a growing international consensus to recognize the needs of children living with undiagnosed syndromes. They want to make SWAN a diagnosis. They have come out with some joint international recommendations. This group includes the U.S. National Organization for Rare Disorders, SWAN UK, Rare Diseases Europe, and similar groups from Canada, Australia, and Japan.
They firmly assert that, “Equitable and fast access to diagnosis and specialized healthcare must be considered a basic right for the undiagnosed population.” To achieve this goal they have pledged to:
- Develop national programs for undiagnosed and rare disease patients
- Share genetic and clinical data bases for undiagnosed conditions
- Develop guidelines for testing and treatment
- Educate health care providers about resources for rare genetic disorders
- Advocate for national and international funding for research and care
- Recognize SAWN families as a distinct population with unmet needs
It is going to take some time, but hopefully SWAN will get more attention and funding. Access to care should improve. Until then, there are some things parents can do:
- Take advantage of SWAN education and support services. You can find SWAN UK at undiagnosed.org.uk. You can find SWAN USA at swanusa.org
- Try to get your child to a major university hospital where childcare specialists have access to the latest testing technologies and are able to consult with experts from around the world.
- Consider joining a research study where your child’s symptoms and genetic tests can be pooled with other children from around the world. This is how new syndromes are found and new treatments are developed.
- Ask about more advanced genetic testing and genetic consulting options. You can find genetic clinics at genetests.org, and genetic counsellors at nsgc.org.
- Keep all your child’s medical records. Keep all your child’s appointments.
- Don’t give up. More support for children with SWAN is in the way.