A Parent’s Story
Phoenix Jackson Timmo Smith was born on the 20th of November 2009 at the Tweed Heads Hospital. Weighing in at 9 pounds with healthy lungs and Apgar scores of 9:9, he was the picture of good health and captured our hearts.
We quickly learned he had some hearing loss and numerous tests over many months were performed to find the cause.
In May 2012 through blood analysis, Phoenix was diagnosed with Infantile Refsum Disease. It is one of 3 disorders on the Zellwegers Spectrum also known as Peroxisomal Biogenesis Disorder (PBD). It is an extremely rare, inherited autosomal recessive disease in which toxins build up in the body and slowly destroys the myelin sheath of the brain. This ultimately results in loss of life usually in the childs 20’s. Phoenix is one of only 5 children living in Australia with this disease. There is no cure.
After realising what his future looked like, we learnt never to take life for granted. Even though Phoenix faces regression, mental retardation, loss of motor control and nervous system, blindness, deafness and seizures, he has never let it get in his way. He has an unbelievable zest for life.
Phoenix currently has development delays, muscle weakness, unusual gait, night blindness, Retinitis Pigmentosa in both eyes and profound bilateral deafness. Doctors cannot tell us when he will begin to regress, be unable to walk, talk or begin failing. Our aim is to give Phoenix quality of life while we still can.
Phoenix is an amazing little boy. Kind, caring and willing to give everything a go. From the beginning when we learnt of his hearing loss he always surprised us with his determination, overcoming many obstacles.
Phoenix loves cars, loves to have kisses and cuddles and makes everyone feel needed and loved. He loves to be outside listening to the birds, kicking a ball and chasing his little brother Kai. He loves to read with his big brother Nate, loves to cook and everyday teaches us to appreciate the small things.
It is a rare day that Phoenix isn’t smiling and his smile and laughter is infectious.
Since receiving his Cochlear Implants in July 2012, Phoenix has become more independent and it is so beautiful to see him stop, turn to the sound and watch his face light up with joy. He enjoys his Mondays at swimming lessons, Tuesdays with his Early Intervention Teacher, Wednesdays at Kindy and Thursdays with Speech Therapy and has ongoing Mapping appointments.
Currently we are in the process of having Phoenix’ mutations in his genes identified so his brothers Nate (5) and Kai (16 mths) can be tested as to whether they are carriers of his horrible disease.
In July 2013 the Global Foundation for Peroxisomal Disorders is holding a conference in Lincoln Nebraska, USA that provides medical support and treatments from Specialist Doctors and information on advances in research. We will have the opportunity to meet other families and their children who are going through the same experiences as we are. We can share in their joy as well as grieve together.
We believe it will be incredibly beneficial for Phoenix and I to attend the conference and we are excited to have the opportunity to learn as much as possible about our medical options and about ways to improve Phoenix’s quality of life, particularly as there are no support groups here in Australia and specialist care is limited.
The cost for this trip is approximately $10,000 which we hope to raise through fundraising, sponsorship and donations of money, goods or services.
This year has been difficult financially and emotionally for us, however, we feel that Phoenix deserves every opportunity and support that we are able to offer him. For this reason we are asking for the support of our friends, family and local community and we would be forever grateful for any contribution you are able to make.
In terms of development Phoenix is writing his own book as many children with this disease do. It affects each child so differently, and we look forward to his next Chapter.
Phoenix has taught us to have patience and to make the most of life. It is a pleasure to be Phoenix’ Mum and we couldn’t be prouder of the little man he is becoming.
Thank you for taking to time to read about Phoenix and our family and we hope you will consider donating,
Please feel free to contact me if you would like any further information.
An Update on Phoenix:
What an amazing time we had on our trip to the US. We learnt so much medically and it felt so good to be surrounded by families going through the same. We are forever grateful to all who helped us achieve our dream and know we will benefit continually from our gained knowledge. We will never forget Phoenix’ face when he met Minnie Mouse (he has a crush) and also Eyeore! Thank you all! What a great pleasure it has been for KIN, Billabong Swin School and the Community to be able to support this wonderful family on this journey.