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This is about me and my journey with PHACES Syndrome.
About me
Welcome to my Blog.
I am Cassi and 30 years ago I was born in North Shore Hospital, Auckland, New Zealand.
When I was barely an hour hold I was rushed to National Women's Hospital where I was to spend the first six weeks of my life in the Neo Natal unit....
During those six weeks i was discovered I had no Sternum bone, the cavity was being protected only by a small piece of skin which the specialist told mum looked so fragil it could break if breathed on though later he would retract his words after surgery to pull the skin across.
It was also discovered I had eye sight problems, cardiovascular problems and birthmarks called Hemangioma's and I was a failure to thrive baby....
At the age of four I had opn heart surgery to close the narrowing in my Aorta, the specialist had told mum that the narrowing would return which indeed it has, I was to suffer migraines all through child hood and they didn't stop till the end of high school I now only get them when the temperature changes.
In 1997 I was finally diagnosed with absence Epilepsy, these seizures can often be mistaken for daydreams when in fact your brain is having a hissy fit!, after a CT was done, we discovered I had an AVM which mum had always suspected any way.
In 1999 I attended an independent living course for young adults who were blind and vision impaired, there I had the opportunity to meet a Genetics specialist who after asking many questions, made it her mission to find a name for all my problems...
In 2000 we had an appointment and looking at my mum and I she said "I think I have a name for all your problems, it is called P/H/A.C.E Syndrome, i is very rare hat we only know of four other cases in America", we were excited and and I ave permission for an article to be written about me and then went on the net and searched for any information I could grab, realising there wasn't any I set up the first P.H.A.C.E support group. Now I say I have P.H.A.C.E.(S) as the 'S' referes to the partial or total absence of the Sternum.
I am Cassi and 30 years ago I was born in North Shore Hospital, Auckland, New Zealand.
When I was barely an hour hold I was rushed to National Women's Hospital where I was to spend the first six weeks of my life in the Neo Natal unit....
During those six weeks i was discovered I had no Sternum bone, the cavity was being protected only by a small piece of skin which the specialist told mum looked so fragil it could break if breathed on though later he would retract his words after surgery to pull the skin across.
It was also discovered I had eye sight problems, cardiovascular problems and birthmarks called Hemangioma's and I was a failure to thrive baby....
At the age of four I had opn heart surgery to close the narrowing in my Aorta, the specialist had told mum that the narrowing would return which indeed it has, I was to suffer migraines all through child hood and they didn't stop till the end of high school I now only get them when the temperature changes.
In 1997 I was finally diagnosed with absence Epilepsy, these seizures can often be mistaken for daydreams when in fact your brain is having a hissy fit!, after a CT was done, we discovered I had an AVM which mum had always suspected any way.
In 1999 I attended an independent living course for young adults who were blind and vision impaired, there I had the opportunity to meet a Genetics specialist who after asking many questions, made it her mission to find a name for all my problems...
In 2000 we had an appointment and looking at my mum and I she said "I think I have a name for all your problems, it is called P/H/A.C.E Syndrome, i is very rare hat we only know of four other cases in America", we were excited and and I ave permission for an article to be written about me and then went on the net and searched for any information I could grab, realising there wasn't any I set up the first P.H.A.C.E support group. Now I say I have P.H.A.C.E.(S) as the 'S' referes to the partial or total absence of the Sternum.
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