PURA Syndrome Causes Respiratory Distress in Infant

September 9, 2016

On the 22nd of September, 2013 our second child was born at two AM. He is a boy, Joshua.

I hold him in my arms and a few seconds later he is taken from me and everyone starts rushing around and my baby boy leaves the room. What is happening? Where are they taking my Joshi? My heart is beating like I never knew it could and my eyes automatically fill with tears….

This is where our journey begins.
Joshi had respiratory distress from the moment he was born and was put into an incubator and after a week in the hospital we took him home thinking that the worst was over. Once we got home though, we couldn’t get him to eat, he didn’t seem to have the energy, so back to the hospital we went where he spent another week which was when he suffered his first apnea.

He seemed to always be blue round his mouth but anyway a week later, home we went again. After just one night at home we knew something wasn’t right so then we were back to the hospital where he spent the next six months of his life.

His oxygen levels went down constantly to terrifying numbers and he had to be reanimated. From then on he depended on oxygen, couldn’t eat for himself, and had severe apneas. He had so many that even on oxygen they couldn’t register how many as he seemed to be constantly in and out of one. He went thorugh two blood transfusions as his haemoglobin levels kept on going down. His hypothonia was very worrying, he had myoclonias, and the breathing seemed to get worse and worse.

Every day was full of medical tests…but they all came back negative. There was no hope in finding out what was happening to him.
IMG_1028After many months in the hospital, suddenly as if it was magic, he managed to breathe by himself and months later we went home again with his oxygen tank, his apnea machine and his saturation machine which he still maintains. Any type of minimum effort wore him out, so, bit by bit he managed to start doing things. Now he has been attending a wonderful school for children with special needs, he has just finsihed the nursery department and goes onto the elementary school soon. He has managed to maintain his head, he can sit down even though he can’t pull himself up, he still has apneas, but much less than before and every day is full of therapies to help him.

He can’t talk, or walk or do anything at all independently, but we work with him every day to help him reach whatever his full potential might be.
On October 2nd of last year we finally got a diagnosis of PURA Syndrome. We now have one main objective: his and his sister’s happiness– and this has been achieved successfully but the rest is just extra luck. We consider oursleves to be luckiest people in the world.

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