Caelen's Quest: First Challenge

24 January 2014

First Challenge

Our first challenge is here way too soon!

Cayla is down with a cold at the most inappropriate time with Chinese New Year just round the corner. We risk having to sacrifice visiting and most worrying of all, risk passing on the virus to Caelen. He last fell really sick during Christmas, had a high fever and 2 weeks of persistent cough. That weakened him so much that he lost the ability to sit.

I have been up frequently the whole of last night to check on his breathing and temperature. The cold weather of late didn't help either. I noticed that his nose (breathing) sounds slightly stuffy. Gosh, I really hope we can tide over this. Please let him be well. Life is already so restricted so please don't deprive him further of his first CNY with the family.

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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