Rare condition has James Courtis waiting for a new heart --- By - TopicsExpress

Rare condition has James Courtis waiting for a new heart --- By Emma Kelly in The Canberra Times --- Canberras James Courtis isnt one in a million. Last month the little boy was diagnosed with a rare genetic condition that affects fewer than 200 people around the world. James celebrated his fourth birthday from The Royal Childrens Hospital in Melbourne on Friday where hes fighting for his life. James has Barths Syndrome. The x-linked genetic disorder, usually transmitted from a carrier mother to her son, has a range of possible symptoms including a weak heart muscle. There are only 13 known cases of the condition in Australia. The diagnosis has turned the Courtis lives upside down. James mother, Phyo, said the familys battle began in late August when James was admitted to the Canberra Hospital with what the family thought was pneumonia. The second night we were there he experienced cardiac failure out of the blue, she said. That night we were told he probably wouldnt make the flight to Sydney. James was diagnosed with cardiomyopathy, his weak but enlarged heart overcompensating to pump blood. Two weeks after the emergency visit he was diagnosed with Barths Syndrome. James is now hooked up to a ventricular-assist device, which operates like an external heart, as he awaits a new heart. His own is working at about 5 per cent capacity. James is now confined to the hospital grounds in Melbourne, where his siblings Lacey, 5, and Jake, 3 have moved to be with their mother and brother. Their father, John, has remained in Canberra to work and pay the mortgage. You just cant believe its happening to you and your child; 200 people and your child is one of them, Phyo said. The VAD machine hes on is fantastic but everything could go wrong next week. Phyo, like many, hadnt heard of Barths Syndrome before James diagnosis. She hoped sharing her familys story might help another family struggling to diagnose their child with similar symptoms. Barths Syndrome is diagnosed with a targeted blood test. There are also more visual characteristics such as chubby cheeks and sensory issues. When youre having all these blood tests to find out why a child has cardiomyopathy, a little bit of extra blood is not going to hurt, Phyo said. If you know its Barths, you can manage it before it gets to this stage. Since moving to Melbourne the Courtis family has been overwhelmed with an avalanche of support from family, friends and strangers. Two Facebook auctions have helped support them financially and emotionally. Its so nice to wake up and see messages, people telling me their stories, just giving us hope. To support the Courtis family, facebook/pages/Little-James-Braveheart Read more: canberratimes.au/act-news/rare-condition-has-james-courtis-waiting-for-a-new-heart-20141024-11avy4.html#ixzz3H7e4NbXN Read more: canberratimes.au/act-news/rare-condition-has-james-courtis-waiting-for-a-new-heart-20141024-11avy4.html#ixzz3H7dcYNBH