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FAIR FOR RARE: Dallas’s Story

Our son Dallas was a relatively typical child up until around 14 months old, it was then we started to notice things that were not quite right. 
We took Dallas to our local doctor and that is when our journey into the unknown began. Our son had very limited use of his lower limbs and would only eat specific foods, he was then diagnosed with scurvy and global developmental delays.

 

After this diagnosis, the specialist trips began and it became very obvious to us that this was a very complex medical issue, which gave us no answers for nearly four years.  After multiple tests and years of waiting, Dallas underwent genomic testing and we finally got our diagnosis. Dallas has Van Maldergem syndrome 2.  

 

Our son is now nine years old, he is non-verbal, unable to walk and is feed through a peg (short for percutaneous endoscopic gastrostomy)
As far as we have been able to find, Dallas is the only one in Australia with Van Maldergem syndrome 2.

 

We have found four other families in other countries across the world, but there is extremely limited information on this syndrome so for now we just have to treat each issue as it comes along. Our daily life is currently structured around appointments for our son. There is no real guide to what the future holds for Dallas, 

 

We can progress rare disease care within Australia by improving access to coordinated care and the communication between community health professionals. As rare diseases usually present a high level and wide range of symptoms like with Dallas, we can require the care of a variety of different health specialists, so it’s important that we address these issues.