Caelen's Quest: The Devastating News

13 January 2014

The Devastating News

Along the way, there were tell-tale signs telling us that something was not right:

Not kicking a lot
His grasps were weak
Poor head control
Cannot put weight on his legs
No sense of balance
Slow/late in meeting milestones

That had led to a lot of questioning and thus I began researching on the internet. I chanced upon a medical website which document case studies on infant-related disorders. It showcased a library of pictures and videos of children with various conditions like SMA, Prader–Willi Syndrome, Scoliosis, Cerebral Palsy (CP) etc of varying severity. Unfortunately, this site was no longer available when I returned for more information. Nonetheless, I concluded that Caelen had Global Developmental Delay (GDD) or SMA.

The subsequent events were a blur. That included numerous trips to the Pediatric Neurology, Polyclinic and Rehabilitation Centre. While Caelen was scheduled for 8-9 different clinical tests, he was also seeing the physiotherapist, occupational therapist and speech therapist to help with his motor skills development.

The wait for the tests results was painful. Within first 2 weeks, results for minor tests all came back negative. We were pretty hopeful then. Until an unexpected call from the hospital requesting to meet despite that there was a pre-arranged appointment 2 weeks later for the release of the remaining - genetic test result. Sensing something not right, hubby and I prepared ourselves for the worst but not for what's to come.

Caelen was diagnosed with Type 1 SMA and we were told that he would not live beyond two years old. The reason why this came as a shock as we had expected a 'Type 2' verdict since he met some of his milestones. Apparently not.

Our world came crushing, our hearts were literally broken and what followed was an emotional roller coaster ride.

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Beginning of his Journey

Caelen was diagnosed with Type 1 Spinal Muscular Atrophy (SMA) on 13 Jan 2014, at age 10 months.

SMA is caused by a missing or abnormal (mutated) gene known as survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein in the body called survival motor neuron (SMN) protein. In a person with mutated genes, this protein is absent or significantly decreased, and causes severe problems for motor neurons. Motor neurons are nerve cells in the spinal cord which send out nerve fibres to muscles throughout the body. Since SMN protein is critical to the survival and health of motor neurons, nerve cells may shrink and eventually die without this protein, resulting in muscle weakness.

The hallmark feature of SMA Type I is that children are unable to sit or stand without help. They will require equipment such as strollers or wheelchairs for mobility. Swallowing and feeding will become difficult for children with this type of SMA and they will eventually lose the ability to swallow safely without aspirating. Children may eventually require a feeding tube to supplement their nutrition which permits the administration of liquid food into their stomachs.

Children with SMA Type 1 will also experience weakness of the muscles used for breathing, those that help expand the chest and fill the lungs with air. The chest is smaller than usual in these children and they begin to breathe using primarily their stomach muscles (belly breathing). The lungs do not fully develop due to this type of breathing, and coughing becomes very weak. It may be difficult for children to get enough air into their lungs while sleeping, and eventually throughout the day. Many of these children will require equipment to help them breathe; again this is based on what each family chooses. Weakness also leads to problems with the spine (scoliosis) and hips (displacement) that may lead to further loss of ability/function.

Source: Families of SMA