Josh's Journey 

Well my son Josh brought me to this family. Thanks so much to Annie for developing such a wonderful support group. Josh has recently turned 7, he was diagnosed with PH in November 2007 after a catheter for a possible fenestration closure. Josh was born with a very complex congenital heart defect in which he only has a single ventricle, he has undergone 3 heart surgeries and 10 heart catheters. His surgeries have been a staged palliative process called a "Fontan." Essentially he has a one pump system in which blood flows passively to his lungs and then returns to the heart to be pumped around the body, hence he is already cyanotic with sat's around 80 - 90 on a good day and essentially we don't know anything different for Josh from this and don't really know how much of a difference the PH makes to him.

Since Josh had the completion of his Fontan in March 2004 he has suffered migraines and a constant feeling of "unwellness."  In his Fontan circulation he has a "fenestration" - created by the surgeon between the atrium and the conduit in his heart - which acts like a pop off valve for when the pressure in his heart is too high, most of the time in these kids the fenestration closes itself and clots over, however in Josh his shunts all the time - they think this possibly being the cause of his migraines and feeling unwell, hence the Cardiologists have been trying to close this fenestration. This process of attempting to close the fenestration began in August 2004 and we have had set back after set back ever since. The first catheter was aborted because he had a large clot in his conduit and instead had to be hepranized - mind you he was already on warfarin when he developed the clot. The second attempt showed he had a narrowing of his Left Pulmonary artery and when they trial closed his fenestration his pressures increased too much within the heart so he was started on Enalapril. On the third attempt he developed a migraine immediately pre-catheter and was too ill to go ahead with it. Then by the fourth attempt last year he had developed even higher pressures which gave him the diagnosis of PH. Mind you for a person with a Fontan these pressures are within a very small range - ideally in a person with a Fontan the pressures in the circulation should be 12 - 14mmHg, they start to have an impact at 15 - 17mmHg and once they are around 18 - 21mmHg they are high enough to be cause PH, so it really is a very different scenario to a person with a "normal circulatory system - (two pump system)" who develops PH.

Josh is currently the only child in Australia who has a fenestrated Fontan and PH, hence there is not a lot of experience in treating a child with this combination. Josh was started on Bosentan in December last year, he was already on warfarin, enalapril and propanolol. Initially we saw a very good response with the Bosentan and the Cardiologist was very happy with his progress, however in the last four months he has regressed again and so Josh had an echocardiogram and the Cardiologist saw that his shunting across his fenestration has changed? (not sure what he means by "changed"?) - so he has scheduled a catheter to measure his pressures again at the end of October.

Oops - this isn't really a brief summary is it! If you've read this far you have done well - complicated story but I guess it is our own and what makes this world the interesting, complicated one that it can be sometimes!  We are not sure what the future holds for Josh but we will continue to give him every opportunity that we can, he is an absolutely gorgeous kid and brings us so much love, joy and happiness.

Belinda Frank