Caelen's Quest: September 2015

15 September 2015

I Am Going To School

Taken in Aug - grown up look

Last week C and I both came down with a fever. I had a really bad throat and was worried C might be having the same. Luckily, whatever bugged us went away as quickly as it came and we had been staying indoors since largely due to the haze.

Taken in Sep - Chubby Caelen

C had been 'eating' well and putting on quite a bit of weight, looking chubbier these days. Although growing bigger, he was also weaker. The strength he initially possessed now seemed inadequate to serve his bulkier body. At sitting position, his head "dropped" more often than desired. The other day, while using both hands to support his chin, he said to me," Mommy, mommy, help me! My head is too heavy! Can I take out my head?". Funny things he say...

Physiotherapy and any form of exercises are now tedious tasks for C, they tire him out easily. Simple task like holding a spoon became a struggle (he now uses a small KFC plastic spoon to eat instead). Passing his milk bottle to me became a chore and he chose to throw in on the bed. Removing his pants and diaper were no longer the things he loved to do. These were some of the things about SMA we grew to embrace and accept. With little adjustments here and there, we went on with life as usual.

Oh there is one thing to be excited about. We found a home-based teacher for C! He will be starting his first lesson next week. This is something sitting on my wish list for the longest time (ever since I started this blog), waiting to be fulfilled. I think C is excited about attending lessons too. Let's hear what he has to say:

Hope to bring you more updates on his lesson very soon!

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