RUN FOR RAPHA
- By: Caleb Pedersen
- Short URL: https://www.backabuddy.co.za/run-for-rapha
My name is Caleb Pedersen and I live in Cape Town. We are raising funds for Rapha Pedersen who is my five-year-old son. Rapha has a very rare chromosomal abnormality, a mosaic of 48XXXY and 49XXXXY. One of the many side effects of his unique chromosomal make-up is a deficiency in natural testosterone production.
Rapha’s syndrome is associated with severe speech and motor delays, hypotonia (low muscle tone), as well as learning disabilities and physical manifestations affecting the skeletal, cardiac, and genital systems.
We have searched far and wide to find professionals who understand Rapha’s ultra rare syndrome and who can assist him in overcoming his many challenges. Our search has lead us to the Focus Foundation in Annapolis, Washington, USA.
The Focus Foundation is the first and only research-based agency exclusively dedicated to identifying and assisting families and children who have X & Y Chromosomal Variations (Sex Chromosome Disorders).
Although Physicians, ancillary health care providers and Physical and Occupational Therapists as well as Speech and Language Pathologists are taught that genetic abnormalities typically impact on a child’s neurodevelopmental progression, practitioners often receive insufficient information about X and Y chromosomal disorders or the information they receive may be outdated or inaccurate. FF’s research and education efforts are committed to educating health professionals throughout the world regarding X and Y Chromosomal Variations. We would like Rapha to be assessed by the team of specialists at the Focus Foundation, who will put together a report and in-depth instructions for his therapists back home so that they can help him get the most out of his therapy sessions. The early treatment promotes recovery and optimal development. Therefore, treating Rapha is very important for him and our family as a whole.
We want to take Rapha to The Focus Foundation in July 2019, when the 16th Annual 49er Conference will be held.
As a newborn baby, Rapha struggled to latch, to breastfeed and to thrive. He was admitted to hospital for failure to thrive and to undergo various genetic testing. He has been in hospital many times for pneumonia and bronchiolitis, which he is prone to because of his poor muscle tone. He has been x-rayed many times to check his bone age, which is currently around that of a 2-year-old. He has been for an ultrasound to check his organs are all in working condition. He has had a brain CT scan to check for tumors which are common for boys with his condition. He receives multiple therapies every week to help him with his development. Rapha is at the right age now to receive 3 months of testosterone treatment, known as androgen therapy, which will help him to do some catching up for his age and we feel this is perfect timing for him to see the Focus Foundation specialists.
Our little boy has fought hard to be alive and to thrive in his first five years on earth and we would like to invite you to support him in his journey by contributing towards his trip to the USA, where we hope to acquire great solutions to our endeavors to set him on the path to success.
- Apr 28, 2019 - R 1 000.00
- "Lots of love to you all" - Lyn Rielly
- Apr 28, 2019 - USD $ 69.54
- "Sending our love and wishing you all the best xx" - Alexander & Oliver
- Apr 26, 2019 - R 100.00
- "I pray that this is the start of a great new chapter for Rapha, and that all his needs will be provided for! " - Anonymous