Aviana McElwee SMA 1

Aviana

Aviana is our first and only baby, she was born 7th July 2016 at Royal Darwin Hospital weighing a healthy 3.6kg. It was without a doubt the best day of our lives to welcome this little bundle of joy into the world.

As new parents it is all rather daunting and you really do not know what is “normal”. We knew we had a very relaxed, easy going baby that ate well and slept well so why would we question anything? We were in such a happy bubble, she gave our life new meaning. We got her diagnosis a day after her 3 month birthday, ironically we had been celebrating each month and did not know at the time how significant this would be.

It was such a stroke of luck that she got diagnosed when she did, as we had no real cause for concern at that stage and neither did anyone else. She had passed all of her ‘milestone’ tests, the 6 week GP test and her important 2 test with the community nurses. We had noticed that her legs were always in a frog-like position and she also was not really kicking her legs either. But we put this down to her calm nature and her laid-back personality. Everyone who met her described her as happy, bright and engaging and this masked that there was anything going wrong. This is a common trait of the condition as these babies present extremely alert and full of life, you often don’t suspect they are in trouble until it is somewhat too late.

Luckily we had sought advice from a pediatrician as she was developing a flat spot on the back of her head. We thought this was just because she was so still and content when she slept but as with all of the other signs in hindsight these were all symptoms of SMA. Now we have heard of this cruel disease we know all too well that she was actually displaying most of the tell-tale symptoms and it was actually blatantly obvious that she was an SMA baby.

As soon as we presented Aviana to the pediatrician he knew something was not right, he did not like her floppiness and explained that hypertonia can often be a sign of something neurological. He sent her for scans and tests and a month later we got her results, by which time she had lost a lot more movement in her limbs and seemed a lot weaker in general.

Getting the devastating news that your baby has a terminal condition, that there is no cure for, is something that I really can’t explain. It is like a living nightmare. We have struggled to come to terms with the fact that we will lose our precious angel so soon and if we could we would change places with her in a heartbeat. She is so pure, so full of life with so much to live for. It is the cruelest situation imaginable to know that she will waste away in front of us and we will have to watch her deteriorate. To care for a baby that is essentially dying is soul destroying. It drains you of all emotion and it is a very confusing place to be mentally because you’re mourning the death of your baby. It is totally out of your control.

When we were told about the medical trial in Sydney we cannot even describe the joy and excitement that there was this glimmer of hope. For years parents of SMA babies had been told there is nothing that could be done but now there was this possible treatment, it really felt like an absolute miracle for us. So we moved to Sydney and that is where and when everything changed for the better.

Aviana was treated to the best possible medical care and we met some truly inspirational medical professionals that went above and beyond to help us. The lumbar puncture is not pleasant and nobody wants to see their baby in discomfort but for us it was such a small trauma for her to go through in order to get this treatment. About 6-8 weeks into the treatment we started to notice changes, BIG CHANGES!

Her physical development is improving all of the time and the main differences we have seen thanks to this ‘miracle drug’ are as follows:

✔ Sitting up unsupported at 7 months of age – this is the biggest most amazing change and is giving her a much better quality of life.

✔ Stretches her legs, pushes against things with her feet, kicks her legs a little & plays with her feet when lying on her back – before she could not move her legs, only wiggle her toes

✔ Holds her head up with a strong neck and turns it fully side to side to look around – whereas she used to just track with her eyes

✔ Grabs toys with one hand or two hands and passes them between her hands & brings toys to her mouth – she used to just look at a toy and wiggle her fingers with frustration and sometimes manage the strength to bat her hand in the direction of the toy

✔ Lift up her whole arms off the floor, including shoulder (anti-gravity movements) so that she can reach things that she wants – we used to have to put everything in her hand and she could only hold a light feather for a few seconds but now she waves big heavy plastic toys around for minutes at a time

✔ Almost rolling, it is a work in progress. She can roll from her back to her side and onto her tummy with encouragement. I would say we are half way there but we won’t give up. Our little ninja will keep fighting to achieve this.

These changes have made Aviana a much more content baby without as many frustrations when her body wasn’t doing what her mind was telling it to do. We feel like she used to be very passive in her daily play because she could only really move her fingers and eyes and now she is so active it is delightful to see her enjoy moving her own body.

Aviana is even trying to feed herself now that she is eating solids with a spoon and so the feeding tube that has been fitted into her tummy is not used for feeding yet, it is there for the future as a precaution. Without this drug she would no doubt be solely tube fed by now.

Day to day life living with SMA is hard. We never stop challenging her with all of the physio and OT that we have been shown, to help her physically progress. But she gets very tired. We have lots of special equipment to make her life more comfortable too as she grows bigger I know it will be trickier to care for her. But this drug is changing the course of this deadly disease and so we are really on the cusp of something truly amazing. We are also riddled with guilt that not all SMA families are yet able to access this treatment, not a day goes by that we don’t appreciate how lucky we are.

It might be too late for our little Avi but this is what we would like to see happen:

– CARRIER TESTING
– NEWBORN SCREENING
– MORE AWARENESS
– TRAINING FOR MEDICAL PROFESSIONALS

We know that we can’t change Aviana’s diagnosis but we can choose how we live with it. We embrace each moment that we have with our precious baby girl and cherish the short time that we have as a fierce team of three.