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Here, Russ shares his experiences of granddaughter Georgie’s diagnosis of SMA, and the journey the family have been on since:

Georgie was born in February 2019. She was a decent weight and both parents had no concerns about her in anyway.  For the first four months of her life, she developed like any other baby would do, reaching basic milestones.

After this however, we started to notice that she was making no attempts to roll over. She did not appear to be making any movements of her feet and legs and she generally appeared to be quite floppy.

Mum mentioned it to the health visitors on several occasions, but they didn’t seem to be overly concerned, despite reservations from parents and grandparents. All they said was that she was just developing slowly.

As time went on there was still no progress made by Georgie, but we also started to notice that she had a tremor. When she was picked up, she was very uncoordinated and floppy, and she had to open her mouth to try and straighten her neck up. Again, we questioned the health visitors about it all, and, again, we were told that she was developing slowly and that babies sometimes had tremors like this.

Looking at Georgie’s spine it appeared that it had a slight twist to it. Mum had talipes and dislocated hips at birth, and so we did start to wonder if this is what may be wrong with Georgie, even though in our minds, we knew there was something more wrong than just this.

Of course, as time had gone on, we went into the first lockdown. We’d been trying to make an appointment to see the doctor, and we were only becoming increasingly more concerned. Eventually, an appointment was made to have a face-to-face meeting with the GP, who just said that she was developing more slowly than other babies of her age. We looked on this with great incredulity as we knew deep down in our hearts that there was something wrong. We tried to make another appointment, but this had to be a video that was sent to the GP, who once again, dismissed anything serious.

Because physiotherapists were aware of Georgie’s talipes they made arrangements to visit her. It didn’t take them long to realise that there was something quite disconcerting about Georgie’s inability to crawl, roll over and hold herself up for long periods of time. They also noticed that one leg was definitely shorter than the other and was in discomfort when her legs were manipulated.

The physio made an immediate referral to the Paediatric Consultant.  She arranged for a video consultation at first and immediately noticed that there was more to Georgie’s condition. An appointment was made for a face-to-face consultation, and she organised for blood tests, and MRI and for genetic testing to begin. After a lot of fighting and hard work a diagnosis of SMA was given. This was in March of 2021, almost 18 months after parents and family showed concern about Georgie.

Georgie started Spinraza injections in April and there was an almost immediate improvement in her sitting balance and head control, etc. But we felt that too much time had passed for Georgie to receive treatment early enough to make a big difference to her mobility.

If there are any parents out there that have concerns about their baby/toddler in regard to mobility, I very strongly suggest that they keep knocking on the doors of GPs and health professionals. It may take a while for people to sit up and listen, but make sure they do as for a child who has SMA it could make the difference to have treatment so much earlier.

Now, all of our family are trying incredibly hard to raise funds for Georgie to receive the equipment she needs to become mobile and to support her to have the best quality of life. What the future holds for Georgie, no one knows with any certainty. What we do know is that she is a highly intelligent girl who has an amazing sense of humour and is loved by everyone that she meets.

First published: October 2021