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Pettigrew Syndrome is a rare X linked disorder due to the mutation on an X Linked Gene called AP1S2 that appears likely to effect normal gene transcription. The Gene is important for transporting proteins to the cell membrane and presumably it has a critical function in neurons in terms of the mix of cell surface receptors. Because it is an X linked chromosome, the condition tends to affect males more than females. This Gene has very important instructions for early brain development and function. This is a rare genetic condition and is not related to environmental exposures or events during pregnancy or in early infant life. Pettigrew Sydnrome is diagnosed using the genetic test whole exome sequencing, this test is a very advanced test used to find genetic disorders. Pettigrew is a x linked syndrome that is normally passed from the mother to the son. Some females can be carriers of the gene but don’t show symptoms. It’s characteristics can include abnormal behavior, hydrocephalus, dandy-walker malformation, and seizures. Pettigrew syndrome is very rare so unfortunately there is not a lot of information available about the disorder. Hopefully with more tests being done more information will become available and we can learn more about this disorder.With families connecting and sharing information, hopefully we can learn more about this rare disorder.

After many years of Genetic testing and wondering if a Genetic link would give us any answers to our sons disability, in 2018 we were given the diagnosis of Pettigrew Syndrome AP1S2 Gene for our son’s Josh and Blake. Pettigrew is a rare genetic disorder. As it is an X linked Gene, the disorder has been passed on by Vannessa, Josh and Blake’s Mum. Through the Whole Exome Sequencing testing Vannessa discovered that she was the carrier of the disorder and had passed the gene onto her sons. Laura, the boys sister is not a carrier. As the female has two XX and the Male has XY being a carrier means the female has a 50/50 chance of passing the Gene onto her children. Boys being affected and girls being carriers. Discovering this news in 2018 with our children then 19,16,11 years old was a mix of lots of emotions. It was news that gave us answers about the boys disability and we could find out if our daughter was a carrier for her future plans to have a family, but it also gave us information to pass onto Vannessa’s extended family. Fortunately through the Genetic testing, there are no other known cases of Pettigrew in our family. One thing we discovered was that our two sons are not only amazing boys, but even though they have the same genetic disorder there personalities are so very different, growing into adults at their own pass and in their own time. The challenges they face each and every day are not fair but they seem to smile most days and just get on with life the best way they know how.

They really are inspiring humans.

As Pettigrew is so rare, unfortunately information on the disorder if very minimal. Our understanding is there is one other family in Australia with the diagnosis but we don’t have much more information with regards to other individuals in Australia with the disorder. Thanks to the wonderful world of social media we have connected through a facebook group with other families around the world with Pettigrew Syndrome. Each child is different but yet so similar in so many areas. It truly opens up our world to the possibilities of learning and discovering new things about the disorder. What the future holds…. we really don’t know, but we will continue to learn and grow together. Please! if you know of anyone or know more about Pettigew sydrome we would love to hear from you.

Links for more information on Pettigrew Syndrome.

 https://www.ncbi.nlm.nih.gov/gtr/conditions/C0796254/

https://www.mendelian.co/diseases/pettigrew-syndrome-pgs

http://familydiagnosis.com/diseases/pettigrew-syndrome.

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