TSC care has grown by leaps and bounds

By Letter to the Editor on December 9, 2017.

In November, 1985 our infant son born May 17, 1985-began having infantile spasms. We and our family doctor, however, didn’t realize they were epileptic seizures catastrophic to a baby’s cognitive and motor development. The spasms continued and our baby’s developmental milestones disappeared. Finally, weeks later at the Medicine Hat hospital, a pediatrician witnessed a series of spasms and immediately sent our baby with his mother to the Alberta Children’s Hospital (ACH) in Calgary.

Specialists at ACH discovered through testing that our baby had Tuberous Sclerosis Complex (TSC) and infantile spasms are often an early sign of TSC. What we didn’t know then is infantile spasms-sometimes called West Syndrome-is a devastating neurological condition that can cause profound developmental delays in a child’s growing brain. If the spasms are recognized immediately and treatment rapidly begun, the developmental damage may be greatly reduced.

From December 1 to 7, 2017, a coalition of organizations known as the Infantile Spasms Action Network (ISAN), including Tuberous Sclerosis Canada, marked Infantile Spasms Awareness Week (ISAW). The goal of ISAW is to increase awareness and understanding of infantile spasms. The slogan was “Little Seizures: BIG Consequences.”

A mnemonic tool — an easily remembered acronym — is STOP Infantile Spasms. S is for See the Signs: Clusters of sudden, repeated, uncontrolled movements like head bobs or body crunching. T is for Take a Video: Record the symptoms and talk to your doctor immediately. O is for Obtain diagnosis: Confirm an irregular brain wave pattern with an EEG test. P is for Prioritize treatment: End spasms to minimize developmental delays. Identifying spasms is critical for parents, caregivers and providers.

Infantile spasms occur in about 40 per cent of children with TSC, a genetic disorder that causes tumours to form in various organs and the leading genetic cause of both epilepsy and autism.

Our son is now 32 and requires 24/7 staff to care for him in his own house. His care, prescription drugs, and medical treatment are expensive to Alberta’s health care and social supports. In 1985, the awareness of infantile spasms and TSC were both poor. Knowledge and information about both maladies is so much better now, 32 years later, but fast action to recognize then stop the infantile spasms is critical.

Ray Marco

Dunmore, Alta.

(The writer is volunteer director with Tuberous Sclerosis Canada Sclerose Tubereuse (TSCST) with files from the Child Neurology Foundation and the Tuberous Sclerosis Alliance.)

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