Caelen's Quest: July 2015

8 July 2015

A New Routine

Jan 2014 - 10 mths old

The first time C visited the Zoo was 1.5 years ago. Too young to remember anything. It was more of a must-visit-the-zoo-before-he-turns-one affair.

Last Saturday, we brought C there again. It was meant to be an educational trip. We thought he would be happy to see and name the animals he came to know through books and YouTube. It was also one of his very few trips out of the house in recent months.

Jun 2015 - 2 yrs old

Having glanced through my blog posts, I realised C had not been in the best of health and it was hard for me to acknowledge that his tiny body was failing him little by little. It was even harder to see how each episode took a toil on his body.

He is now thinner than before as he struggles with his milk feeds. C chokes and coughs bad due to reflux so much so he has problems keeping his milk down. It has also greatly affected his oxygen saturation, its lowest at 80%.

We have thus reduced the volume of each feed and started medication - Domperidone to relieve some of these symptoms but his oxygen saturation did not show much improvements over the last two days. In fact C began to show signs of dehydration - cracked bloody lips, changed in nail colour, tiredness, less urination, increased agitation, weight loss etc.

Hence this afternoon, doctor made the decision to put him on 20-hour continuous feed via milk pump. 100ml of milk is being pumped into his stomach over 4 hours, 5 times a day repeated over the week. In the next 2 days we will review whether continuous feeding benefits/improves C condition.

So far C has responded favourably with his oxygen saturation and heart rate returning to baseline. He no longer coughs as much and low grade fever is gone. With him constantly fed, though at a lower volume than his original daily intake but if well tolerated, we could slowly increase the intake to optimum volume (hopefully to see some weight gain in the near future).

The awful thing about milk pump? Carrying an additional machine plus milk bag around is definitely not too welcoming. It also meant that as long as C is on the pump (regardless of time, be it till 3or 4am), I need to be awake to help untangle the mess while he sleeps because the tube tends to wrap around him when he flip and toss. Not liking it at all for loss sleep.

Finally before I go, a quick update on Cayla's DNA results - she tested negative for SMA but has been recommended to go for therapy/counselling with the psychologist.

If Caelen's diagnosis has affected the adults badly then the impact on the siblings would often be greater as they are not capable of expressing and dealing with complex emotions (e.g. the disappointment of not having an abled brother who could run and play with her; not receiving equal attention as the brother, not understanding the reason why she has been robbed of the love and attention she used to be receiving). Hopefully with professional help, her behavioural and psychological issues can be better managed.

**For those who missed episodes of the 4-Part Documentary Series - 孩子,你慢慢来 Because I Love U, you can watch the videos here**

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