Caelen's Quest: Hectic Week

24 February 2014

Hectic Week

After a good long CNY break, it was back to the routine hospital trips. There were 5 appointments in first two weeks of February and an additional two end of the month.

Anyway, I absolutely dreaded these trips. There is always a high risk of Caelen catching something either from the train rides (plenty of peeps who refused to don a mask when sick) or from the hospital where all kinds of bugs and viruses lurk. Home is still the safest.

Well, this was Caelen during a mask-fitting session at KKH earlier, in preparation for his sleep test on the 28th as well as for the BIPAP machine which he'd be using at home very soon. I need not elaborate but it was not a pleasant experience for both of us. Endless crying and screaming was all I remembered.

Trying on a Mini Me

On a happier note, a few things to anticipate this week:

We will be celebrating "Rare Disease Day 2014" with other special families on 1st Mar at Furama City Centre Hotel, an event jointly organised by Club Rainbow (Singapore) and Rare Disorders Society (Singapore). This is open to public so please do support.

We will also be celebrating Caelen's 1st birthday on the 2nd Mar!! It's yet another milestone for my baby boy. How can we not put up the best for him? So here I am, working really hard to put things together and honestly, it's tough juggling work, family, babysitting, chores, hospital trips and organising an event. Hoping it will turn out just fine.

Before I go, here's another pic of my little one with his 3rd pearlie on the way. Better late than never! It's about time he grows some teeth. Cheers!

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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