How do I know if I have Spina bifida?

Spina bifida is a congenital neural tube defect typically diagnosed at birth or prenatally via ultrasound, though milder forms may go undetected until symptoms like neurological or urinary issues arise in childhood or adulthood. If you suspect you have undiagnosed spina bifida, you should consult a specialist to review your medical history and neurological function.

What are the signs of spina bifida in adults?

While spina bifida is usually identified at birth, some individuals with milder forms, such as spina bifida occulta, may not experience symptoms until later in life. You should investigate these patterns if you experience unexplained challenges involving the nervous, skeletal, or urinary systems. Common clinical indicators include:

• Chronic neurogenic bladder or bowel dysfunction


• Unexplained weakness or sensory loss in the lower extremities


• Persistent back pain or gait abnormalities


• Developmental delays or executive function disorders


• Hydrocephalus-related symptoms like chronic headaches or vision changes

How is spina bifida diagnosed?

Diagnosis is based on physical examination and neuroimaging. If you are concerned about spina bifida, request a consultation with a neurologist or neurosurgeon. They may order specific imaging to visualize the spinal column and verify the presence of a neural tube defect. Key diagnostic tools include:

1. Magnetic Resonance Imaging (MRI) of the spine to identify tethered cord or occult lesions.


2. Urodynamic testing to assess bladder nerve function.


3. X-rays to check for skeletal anomalies in the vertebrae.

When should I seek urgent medical evaluation?

Seek immediate care if you experience a "red flag" symptom, such as a sudden loss of bowel or bladder control, rapid onset of paralysis, or severe neurological changes. These symptoms may indicate complications related to spina bifida, such as a tethered spinal cord, and require prompt intervention by a specialist.

How can I advocate for my health?

If your concerns about spina bifida are dismissed, bring a symptom diary to your next appointment. Emphasize how your specific symptoms—such as urinary dysfunction or sensory changes—are impacting your daily life. You can also connect with the 207 members of the DiseaseMaps.org community who have shared their experiences with spina bifida to better understand how to communicate your needs to healthcare providers.

Next steps

• Schedule an appointment with a neurologist or urologist to discuss your specific symptoms.


• Request a referral for an MRI of the spine to rule out structural anomalies.


• Join a patient support network to learn how others navigate life with spina bifida.

Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Spina Bifida


• Orphanet: Neural tube defects


• Spina Bifida Association (SBA) clinical resources


• OMIM (Online Mendelian Inheritance in Man): Spina bifida entry