Hi there, I'm happy you've found us and hope we can offer some support to you and your families. Both our boys are well but due to time commitments and social media overload, I am currently not using this blog, however I have recently started a facebook page as well as a closed private facebook group.
We currently have 8 families that have joined our group.
If you would like to connect with us please feel free to send me an email via this blog or search Facebook 'Our journey with Adsl deficiency' and I will link you in with us.
Thank you, we look forward to meeting you and hearing your story.
Brothers William and Hamish in Australia were both diagnosed with Adenylosuccinate Lyase Deficiency in January 2011.
Adsl Deficiency is a rare inherited disease of the Purine Metabolism. It effects patients both biochemically and behaviourally, the symptoms are variable and include psychomotor retardation, Hypotonia, Seizures, Cortical Visual Impairment and Autistic features i.e. repetitive behaviours and temper tantrums.
The disease can be detected through a Braxton Marshall urine test and there is now an antenatal screening available.
At present there is no known cure or treatment and there is very little information out there about the disease.
We have started this blogg to share our family story and to connect with other families that have shared their life with the disease.
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