Caelen's Quest: Rare Disease Asia Conference

22 November 2016

Rare Disease Asia Conference

Rare Disease Asia Conference was held in Bangsar, Kuala Lumpur from 17th to 19th November 2016. We had the privilege to join 11 other RDSS families for this event. This was our 1st drive with the kids and did not know what to expect i.e. how C would tolerate long hours sitting and if continuous feed on the move was a challenge. Started the day at 10am, with 2-3 pit stops in between, we arrived at Hotel Pullman by evening.

RDSS (Singapore) Group Photo - Dressed in "Love Is Not Rare" T-shirts

C met his Malaysian friend, Branden, at the Conference. Branden's mommy, Sook Yee, is the founder of weCarejourney, a social enterprise aims to champion C.A.R.E and support for families with SMA and disabilities. She is also the Vice President of Malaysia Rare Disorders Society.

The kids became friends back in 2014 and it had been a year and a half since they met in person. They were so young then with Branden being 5 and C merely 2 years old. Both grown so much in a flash.

This reunion, they had plenty to talk about and spent some quality time together. They chatted non-stop in their squeaky voices; played ipad, Pokemon fight and did painting. On the left, you'd find the art pieces the kids did during their art therapy session.

This trip had been a rewarding one! We really enjoyed our time with other families as well as on our own. Looking forward to more.

2 comments:

The Arty Worm 24 November 2016 at 20:11
Very lovely sharing.
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Lowell28 November 2016 at 20:19
Thank you!
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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