Get SMA on the Newborn Bloodspot Screening

Get SMA on the Newborn Bloodspot Screening

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Katie Griffiths started this petition to Martin Foley

We cannot even explain the heartache we have had to endure due to losing our little baby girl at 4 weeks old to SMA Type 0. 

During our pregnancy, there were signs of extra fluid around Ayla’s neck and a tiny hole in her heart. After multiple scans we ended up having an Amniocentesis to determine the underlying issue as she was perfect in every other way. Absolutely everything came back clear, there was nothing to say Ayla had a genetic condition or anything else. We continued on happily that our baby girl was okay and the stress had eased, with our minds prepared for potential surgery on her heart in the first couple of months of her life….

That was until the day Ayla was born. On April 27th, 2021 our darling little girl decided she was coming 6 weeks earlier than planned and we were so excited. That excitement turned to fear and sadness when she came out floppy and fighting very hard to breathe. She was taken straight to the SCU and put onto a CPAP machine, while I was alone in the birthing suite wondering what was happening. Josh was happy and came back and told me they’re just using a machine to help but she was ok! They were just working out where she can be taken to as she needs a little bit more care than could be offered at that hospital. 

Ayla was poked and prodded and hooked up to the incubator and taken to the Mercy in Heidelberg where she was then further poked and prodded, drips put in to her feet, hands, wherever they could get it without her veins collapsing which occurred often. Ayla had MRI’s, heart scans, you name it. Ayla was also still pushing hard through the machine to breathe, not to mention unable to move her body besides her elbows to fingers and knees to toes. 

Two weeks went by and then she was transferred to the RCH in Melbourne to begin seeing specialists to work with Ayla in the background whilst waiting for the main bloods to come back. At 3.5 weeks old, the dreaded diagnosis came back … SMA type 0, terminal, no cure. As you can imagine we were heartbroken, devastated, confused, angry. Why? How? The amniocentesis didn’t pick it up because they don’t specifically test for it unless there’s family history, but had it been tested for we would have known. Now every natural pregnancy we must have a CVS to check if our baby is affected, a carrier or unaffected but what about families who go through the same as we did, they don’t know they are carriers themselves? Why do families need to go through test after test week after week to finally get an answer? 

please help us get SMA at least on the NBS, a quick heel prick when the baby is born is a much better outcome than a few weeks later when the damage is done. If a baby gets a diagnosis as soon as they are born, there is more of a chance the treatment (not a cure) can be administered and give the baby a chance of a somewhat normal life… not amazing, but better than not being here or being completely trapped in their body. 

please help support this!

 

0 have signed. Let’s get to 1,500!
At 1,500 signatures, this petition is more likely to get picked up by local news!