Juliets KOOL Journey

Hello all, many of you have been asking how you can all help in Juliet’s KDVS Journey so I have decided to start up a Go Fund Me to help Chris and Amy in a way we can all get behind. I am Chris’s Sister Bianca, both Chris and Amy are proud hard workers and asking for financial help wasn’t first on their priority list of things to do when Juliet was first diagnosed but after hearing what the costs of the aids will be and the cost of special play equipment I knew this would be a great option to help them out.. Here is a little bit about Juliet.. Ok so here goes....Juliet was Diagnosed with Koolen De Vries Syndrome At the beginning of June 2018 after mum was questioning the Orthopaedic Surgeon as to why she couldn’t do the things that most babies can do?. She was way behind her siblings at that age but they weren’t too concerned they just thought it might have just been because she had dislocated hips. After this discussion about all of Juliet’s difficulties including her hips, her heart, her feeding and breathing issues along with a few other things the Orthopaedic team suggested genetic testing. Her diagnosis then came 3 months later when she was 9months old. Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).Affected individuals often have distinctive facial features including a high, broad forehead; droopy eyelids (ptosis); a narrowing of the eye openings (blepharophimosis); outer corners of the eyes that point upward (upward-slanting palpebral fissures); skin folds covering the inner corner of the eyes (epicanthal folds); a bulbous nose; and prominent ears. Males with Koolen-de Vries syndrome often have undescended testes (cryptorchidism). Defects in the walls between the chambers of the heart (septal defects) or other cardiac abnormalities, kidney problems, and skeletal anomalies such as foot deformities occur in some affected individuals.To her mum and dad this diagnosis came as a bit of a shock but a huge relief at the same time, at least they knew now what was holding her back. Amy then started doing lots of research and soon found a couple of families close by, one in Townsville who came to mackay to meet them and another in Brisbane whom she met one time while in Brisbane for Surgery for Juliet. They also attended a family gathering on the Sunshine Coast after joining a support group on Facebook where they met a few more Aussie families and a Speech Therapist and Neurologist who were involved in KDVS studies. Amy and Chris learnt pretty quickly that they had their work cut out for them and that Juliet was going to need a lot of therapies, medical and early intervention. Amy is passionate about giving Juliet the best start she possibly can and getting her all the help that she can so that she is able to reach her Genetic potential. Juliet has scoliosis even at her very young age which is probably due to two things, having dislocated hips and low muscle tone. She has pretty much had constant procedures every few months in Brisbane and soon to add Townsville to the list. Juliet is getting lots of help through the NDIS but there are still so many things that she could benefit from including some special needs equipment like a specialised car seat, walking frame, seating and playing aids along with other things. As much as they wouldn’t change a thing as Juliet has been the biggest blessing, having a child with such complex needs does take a toll on the family dynamics and financial stress as Amy isn’t able to return to work as she thought she would. Juliet is almost two and not even standing on her own yet. So let’s get behind a beautiful family with the support they need!