weiss-kruszka syndrome Australia

16/01/2025

Things are moving along and we have been contacted this week by hunter genetics. There is more research going into the condition, a joint project between 3 countries, to find out if there is a genetic signature for Weiss kruszka. Hopefully I should have results in 8 weeks

16/04/2024

Well we have had a busy few months.. Brooklyn has undergone further assessment, but unfortunately due to the rarity of their condition NDIS has cut her funding off. I am appealing it but fighting a loosing battle with them.
There is going to be a research paper released shortly featuring the kids which hunter genetics have been working on for the past 12 months.
Hopefully this will help to shed some light on the condition and aid others.

17/04/2023

Today Brooklyn had her first physio appointment. This will be added to her regular therapy schedule to try and build some muscle tone and strengthen her joints.

20/03/2023

I have recently been contacted by hunter genetics to see if we would be interested on a medical journal being written on weiss-kruszka and using the kids as a case study. It will definately be interesting to see what they find, considering there are only a few in Australia.

12/03/2023

Just some light reading on a Sunday night. Trying to see if I missed anything ..

03/10/2022

Because weiss-kruszka is such a rare genetic syndrome, there isn't much information out there except for a few medical journals. Here is one, written by the Dr that discovered it.

Weiss-Kruszka syndrome is characterized by metopic ridging or synostosis, ptosis, nonspecific dysmorphic features, developmental delay, and autistic features. Brain imaging may identify abnormalities of the corpus callosum. Developmental delay can present as global delay, motor delay, or speech dela...

27/09/2022

I have created this page to link parents together, to support each other and share information about an extremely rare condition.