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Family stories



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Joey from the UK

I first noticed there was something different about Joey, my daughter, when she was 5 months old.  She went from a happy smiley, strong, active baby to a quiet, straight faced and not much movement, but the main difference was when she could not even lift her head up to look at me.  She tried so hard to control her head to stay up to give me a look in the eye and at that moment I thought something was not right.  


Unfortunately we were not able to get any answers from our doctors or midwife as to the reason or cause of Joey's change and that is when all the different investigations started.  


Joey's symptoms were poor head control, her body was weak and very floppy along with very flexible muscles and joints.   All the normal things a child of her age could do Joey was not able to do, like holding her bottle, sitting up, rolling on her tummy, she just laid in her bouncer and car seat most of the time, even a smile seem too much of an effort for her now when before it was just part of her. 


However we were very lucky that our doctors had near immediate started us with Physio and Occupational therapies as well hydrotherapy which Joey loved.


As she grew older there were improvements but none that could compare to her age.  Joey is now 5 years old and she can crawl, sit unaided but not very steady, stand leaning against wall or furniture, she is able to step when holding onto the furniture and her talking is by far the biggest improvement.  Although not everyone will understand her sounds but for me, her mum and close family and friends who see her often we can understand her without too much difficulty and a conversation is always enjoyed.  Joey also shows lots of emotions and uses her tone of voice to make our conversation more fun and enjoyable.  


Joey is mainly wheelchair bound especially at school and when we are out, but sometime because of her size her father and I still like to carry her for short distances.  Joey did have the use of a walker before but where she had a few falls we decided it was not suitable to help with her walking.  Luckily we managed with the help of charity funding to get a special trike made up for Joey which she is able to pedal to school and around the parks which I hope could strengthen her leg muscles and that she will be able to use a walker to walk independently one day.


After all these years of investigations, the doctors have recently found the diagnosis for Joey through the Sil1 gene testing, which brought us to this website.