Amelie Joyce McLaren was born in Perth WA on 15th December 2013 to David (Macca) and Sally McLaren. At around six months of age, Amelie stopped rolling over and no longer showed signs of wanting to crawl. After numerous medical appointments and tests, the phone call came from the neurologist to say that a definitive testing result had come back.On the 6th November 2014 Amelie Joyce McLaren was diagnosed with Tay-Sachs disease, 6 weeks before her first birthday.
Tay Sachs Disease
Tay-Sachs is a very rare inherited disease that results in the body not producing an enzyme called Hexosaminidase-A (Hex-A). Without this enzyme, a fatty substance called ganglioside builds up in the cells of the nervous system, causing them to stop working normally. Amelie has the most common form of the condition commonly known as Acute Infantile Tay Sachs. This is characterised by progressive weakness, loss of motor skills, decreased attentiveness, and increased startle response beginning between ages three to six months. This is followed by progressive neurodegeneration including: seizures, blindness, loss of swallow function, deafness, spasticity, eventual total incapacitation, and death, usually before age four years. At this stage, there is no cure or treatment for Tay-Sachs and treatment is mostly supportive and directed to providing adequate nutrition and hydration, managing infectious disease, protecting the airway, and controlling seizures.
What Can We Do to Help
Through this website we are going to try and raise some much needed funds to give Macca and Sal the chance to best care for Amelie and make her life as comfortable and happy as possible. This means we can help them:
Purchase specialist equipment to assist with feeding, mobility, sleeping, breathing and bathing.Medication and specialist treatments.
Undertake some alterations in the house to provide easier entry from the front and back, and make it possible for Sally's family from the UK to stay and provide much needed support.
Lighten the financial strain on Mac and Sal allowing them to prioritise time with Amelie.
Thankyou for your generous donation, on behalf of all those that love and care for Amelie, Macca, Sal and Macy. We encourage you to share her story, and encourage others to follow your lead in supporting the McLarens through this difficult time. Our support can make it just a little bit easier on them all.