Alexis Jane Downie

The journey so far.

Alexis was born on the 5th March 2015 at 28 weeks gestation. A younger sister to Logan and daughter to Kristi and Peter. Alexis spent numerous weeks in hospital under the care of the specialist in the NICU ward. During this time Alexis bravely underwent the a number of procedures . Alexis was discharged home to a very relieved family.

Due to Alexis’s prematurity it was expected that Alexis would track behind the expected developmental rate but inline with her corrected age. At 7th months old Kristi and Peter started to have concerns about Alexis’s development as she began to lose skills related to her gross motor development. Alexis was monitored by the neonatal team and her own GP and Kristi’s concerns resulted in a referral to St Giles in August 2016.

At this time Alexis was seen by a physiotherapist who had concerns with her presentation, this resulted in a referral to the Pediatric Rehabilitation Specialist. The concerns were based around the following assessment and observations:
 

•     Delayed gross motor skills
•     Lower limb and trunk weakness
•     Poor tendon reflexes
•     Unable to weight bear through legs
•     Commando crawls using her arms only for propulsion.

Following an appointment with the Rehab Specialist a brain and spine MRI was ordered along with blood investigations. What followed was months of intensive Physiotherapy, hydrotherapy and reviews with various medical teams – a specialist appointment in February 2017 resulted in blood work being ordered for genetic testing and also a referral to a Pediatric Neurologist for another opinion.
In March 2017 the blood results were returned to Alexis’s Rehab Specialist with alarming results.

The genetic testing had identified that Alexis had Spinal Muscular Atrophy. Spinal Muscular Atrophy is a progressive genetic condition that affects the nervous system and muscles. It is often classified into different levels based on age of onset and clinical course. Alexis has a diagnosis of Spinal Muscular Atrophy type 2.
Associated symptoms of condition:
 

•     Respiratory difficulties: due to muscle weakness in muscles involved in breathing. Careful attention needs to be made to ensure prompt response to any possible infections
•     Scoliosis: Scoliosis needs to be carefully monitored, this happens due to the weakness in muscles that normally support the spine. Scoliosis can interfere with positioning and mobility and when severe can interfere with breathing. Surgical intervention is needed at some point as they grow and the scoliosis gets worse.
•     Swallowing difficulties: due to a weakness in muscles swallowing can be difficult, this means diets need to be varied and at worst assistive feeding is needed.

Alexis’s progression so far:
January 2017
Alexis was able to transition from lying to sitting and back, this took considerable effort but she was able to do it. Alexis was able to eat most foods presented to her and had a good diet, she was able to feed herself finger foods and attempt to use a spoon. Alexis was able to bring a cup with a small amount of water up to her mouth however she did have trouble with this. Alexis was able to commando crawl predominantly using her upper limbs and sit indefinitely to play on the floor. Alexis did not need to prop when sitting on the floor to play and was able to reach outside her base of support.

September 2017
Alexis struggles with fatigue, she manages short bursts of independent sitting but tires easily and requests rests. Alexis is able to transition from sitting to lying when she isn’t fatigued but generally needs assistance from a family member. Alexis is struggling with some foods now and tires easily when feeding herself. Alexis needs to eat when seated in one of her supportive seats to decrease the energy used to keep herself upright. Alexis doesn’t commando crawl now but can mobilise on the floor very short distances. Alexis tolerates approx. 30min to an hour in her supportive seating before she gets tired and wants to lie on the floor to rest.
As Alexis grows and develops she is becoming more aware of her limitations, she is able to communicate her needs and is very good at doing this. Alexis is very social and loves to engage with her peers, currently she manages short bursts in her Mogo wheelchair zooming around with her friends, as her condition progresses this will become harder for her. Alexis needs equipment to allow her to continue to develop socially and physically.

Since diagnosis:
Since being diagnosed in March everything has progressed quickly. Alexis has been involved with therapy at St Giles and assessment and fundraising has started to assist with the purchase of many pieces of equipment that are needed to support Alexis and her family with her cares. The equipment that she has so far include:
 

•     Jenx Bee indoor seating system
•     Bingo supportive stroller
•     Mogo lightweight wheelchair (on trial from St Giles)
•     Infa secure Grandeur Treo car seat – to offer better support of head and spine
•     Second skin suit – supportive suit designed to slow progression of scoliosis and offer her support to participate in play and social activities.
•     Commode chair to support toilet training.

The above equipment has either been specifically purchased for her or is second hand from the community equipment pool. Whilst the second hand equipment is helping Alexis to access otherwise inaccessible things it isn’t perfect for her. Alexis will need more equipment to access the community and school and has recently undergone a successful trial of a powered wheelchair. Alexis loved the opportunity to independently drive herself around, the smile on her face was priceless. The power chair will offer Alexis independence like any other 2year old, it will offer her the ability to approach her peers and keep up with them in a playground. While she won’t be able to access all play equipment she will be able to approach it where she previously hasn’t. A power chair for Alexis means independence in mobility.

Below is a list of what equipment Alexis will need in the next 12-18months:
 

•     Power wheelchair $26,000
•     Modified vehicle – needed to transport the wheelchair and Alexis. Essential once Alexis is transported in her wheelchair.
•     Commode chair to support toilet training and once she has an accessible house to support showering. Approx. $4000