Dear friend,

 

Our five-year-old son Rapha has a very rare chromosomal abnormality, a mosaic of 48XXXY and 49XXXXY. 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 led us to the Focus Foundation in Annapolis, Maryland, USA.

 

Rapha’s development so far

 

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.

 

As a new-born baby and for the first few months of his life, 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 since then for pneumonia and bronchiolitis, which he is prone to because of his low muscle tone. Rapha has received a surgical procedure called laparoscopy to move undescended testes into the scrotum, for which he was under general anesthesia. He has been x-rayed many times to check his bone age, which is currently around that of a 2-year-old, as well as to check for radioulnar synostosis. He has been for an ultrasound to check for cardiac defects. He has had a brain MRI because 49XXXXY is associated with more markedly decreased brain volume and increased incidence of white matter hyperintensities.

 

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. The early treatment promotes optimal development and recovery. Therefore, treating Rapha now is very important for him and for our family as a whole.

 

The way forward

 

We would like to take Rapha to The Focus Foundation in July 2019, when the 16th Annual 49er Conference will be held. 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).

 

The Focus Foundation’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, including Dr Carole Samango-Sprouse, who is the founder of the Focus Foundation. Dr Samango-Sprouse, who is a neurodevelopmentalist, along with her team of specialists and therapists, will spend one-on-one time with Rapha, assessing him holistically. They will then put together an in-depth report and a plan of action for Rapha to bring to his team of therapists and health-care practitioners back home.

 

We have spoken to Dr Samango-Sprouse over Skype, and are very eager to meet her in person. Our little boy has fought hard to stay 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 USA, where we hope to acquire great solutions to our endeavours in setting him on the path to success.

 

How you can be involved

 

Please check out our fundraising page and consider giving towards helping to cover the cost of Rapha’s journey to the Focus Foundation. You will find a break-down of the costs of this trip below.

 

We have been overwhelmed with the support we have received thus far, with friends already giving money towards two of our airfares so that we can take this trip together as a family.

 

Thank you for your love and support for Rapha and our family. It means the world to us!

 

Warm Regards,

Caleb, Jessicah, Rapha and Léa Pedersen