Caelen's Quest: Alamak!

10 February 2015

Alamak!

For 3 weeks, we tried to keep C away from this bug at home. Cayla was the first to show symptoms i.e. occasional runny nose and cough. That went on for 2 weeks. First line of defence came down when Daddy fell ill. One week later, I conceded defeat. Our last line of defence was broken when C exhibited signs of choking few days back. Initially I thought he might have grown weaker over time thus the swallowing issues. So I had been monitoring him closely for other signs. None. No fever, no mucus, no coughing except after choking and he slept fairly well with a slightly lower O2 and higher pulse rate (still within acceptable healthy range).

Until Dr Chong came by yesterday, did a quick check on C. Suspected that C might be having a mild flu with no flowing mucus to hint that he's actually having one. Backflow of the mucus could likely have caused the recent 'choking and coughing' incidents.

This morning C was significantly weaker and lethargic. Last I checked he was running a fever. I can foresee that this will be a stay-home Chinese New Year. Hope C will get well soon for his birthday celebration in March.

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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