10/09/2023
FBXW7 is a recently discovered genetic neurodevelopmental syndrome which involves a gene mutation diagnosed by a clinical Geneticist. It can cause an array symptoms associated with neurological, cognitive, behavioral development.
My name is Belinda Butterworth. In 2022 my husband Paul and 3 daughters were diagnosed with FBXW7. At that time there were only approximately 30 known cases worldwide, 4 of them were my family members.
My daughters, now 20, 17 and 12, have had a lifetime of challenges. All 3 also had cleft palate and associated speech and language difficulties/ disorder. They have boarderline IQ, anxiety and depression, one has ASD and another has ADHD. Significant school refusal, PDA and behavioral issues are also common.
Early intervention programs including speech therapy, occupational therapy and physiotherapy are paramount for young children. For older children, teens and adults, psychological and educational assistance and support will be beneficial. Neurodiverse kids, teens and adults all have their own experiences, skills and needs.
We would love to hear from you if you are, or have a family member diagnosed with FBXW7. Creating a network for families and individuals to offer shared experiences and support. We were originally from Melbourne but moved up to Cairns, Australia late last year.
For more information about FBXW7 or if you require specific medical advice you can contact Professor Tiong Tan, from Victorian Clinical Research Services. Tiong is a clinical geneticist with a PhD in developmental biology. He sees children and families affected by genetic conditions and has particular interests in craniofacial disorders, genodermatoses, and genomics for gene discovery research and clinical diagnostics. As a clinician-scientist, his research focuses on understanding the cause of rare conditions in order to help affected patients.
Professor Tiong Tan
Clinical Geneticist
Victorian Clinical Research Services
Murdoch Children's Research Institute
Royal Children's Hospital - Melbourne
50 Flemington Rd
Parkville VIC 3052
1300 118 247
vcgs@vcgs.org.au
ABN | 51 007 032 760
