How Were You / Your Loved One Diagnosed?

[PinkRaysOfSunshine]

Well I've read though almost everyones response to ur question and i think I'm the first to say that my daughter was diagnosed prenatally. When i was like.... 3-4ish months pregnant I had a chronic villus sampling done (like an amino only .... not.... .through.. ur um... tummy...) anyways. It was later confirmed by a newborn screening that Kentucky now has. The reason they did the test was because I was an obcessive freak when I was pregnant. All I did was read American Baby, Parenting, What To Expect When Your Expecting, etc. It was pathetic. But I got this freebee thing, a What to expect when you expecting pregnancy planner with the book. It had all this crap about counting the time your baby kicks, names you picked out, a check list for things u need before he/she arrives, etc. But it also had a check list of genetic diseases to talk to your doctor about. You checked if it ran in the fathers or the mothers side, etc. Seeing as how I was on bed rest and had nothing better to do but shoove oreos and pepper jack cheese wedges in my mouth I filled out all this junk. I was talkin to John (her father) about how i didnt have any real gentic diseases in my family history, cept cystic fibrosis he nonchanlantly says yeah.... i had an aunt that died of that when she was 6 mos old. I very causually mentioned it to my ob/gyn and she tested both of us to see if we were carriers, we were.. and then sent us to a genetic counsolor. Thats were they did the CVS. As far as I know Arionna was the youngest patient that had ever been seen and already diagnosed at the CF Clinic. She was 4 days old when she went there and was started on creon 5 and chest percussions n stuff immediately.... I think it made a WORLD of difference! I had like 5 months to prepare.... research.... and come to terms with it.. instead of going through the shock of having a baby.. and then dealing with a sick baby... not knowing whats wrong..... i always knew... and i was okay with it... i think everyone should buy that dang on book!!!! It may have saved my daughters life. =)

 

[PinkRaysOfSunshine]

Well I've read though almost everyones response to ur question and i think I'm the first to say that my daughter was diagnosed prenatally. When i was like.... 3-4ish months pregnant I had a chronic villus sampling done (like an amino only .... not.... .through.. ur um... tummy...) anyways. It was later confirmed by a newborn screening that Kentucky now has. The reason they did the test was because I was an obcessive freak when I was pregnant. All I did was read American Baby, Parenting, What To Expect When Your Expecting, etc. It was pathetic. But I got this freebee thing, a What to expect when you expecting pregnancy planner with the book. It had all this crap about counting the time your baby kicks, names you picked out, a check list for things u need before he/she arrives, etc. But it also had a check list of genetic diseases to talk to your doctor about. You checked if it ran in the fathers or the mothers side, etc. Seeing as how I was on bed rest and had nothing better to do but shoove oreos and pepper jack cheese wedges in my mouth I filled out all this junk. I was talkin to John (her father) about how i didnt have any real gentic diseases in my family history, cept cystic fibrosis he nonchanlantly says yeah.... i had an aunt that died of that when she was 6 mos old. I very causually mentioned it to my ob/gyn and she tested both of us to see if we were carriers, we were.. and then sent us to a genetic counsolor. Thats were they did the CVS. As far as I know Arionna was the youngest patient that had ever been seen and already diagnosed at the CF Clinic. She was 4 days old when she went there and was started on creon 5 and chest percussions n stuff immediately.... I think it made a WORLD of difference! I had like 5 months to prepare.... research.... and come to terms with it.. instead of going through the shock of having a baby.. and then dealing with a sick baby... not knowing whats wrong..... i always knew... and i was okay with it... i think everyone should buy that dang on book!!!! It may have saved my daughters life. =)

 

[PinkRaysOfSunshine]

Well I've read though almost everyones response to ur question and i think I'm the first to say that my daughter was diagnosed prenatally. When i was like.... 3-4ish months pregnant I had a chronic villus sampling done (like an amino only .... not.... .through.. ur um... tummy...) anyways. It was later confirmed by a newborn screening that Kentucky now has. The reason they did the test was because I was an obcessive freak when I was pregnant. All I did was read American Baby, Parenting, What To Expect When Your Expecting, etc. It was pathetic. But I got this freebee thing, a What to expect when you expecting pregnancy planner with the book. It had all this crap about counting the time your baby kicks, names you picked out, a check list for things u need before he/she arrives, etc. But it also had a check list of genetic diseases to talk to your doctor about. You checked if it ran in the fathers or the mothers side, etc. Seeing as how I was on bed rest and had nothing better to do but shoove oreos and pepper jack cheese wedges in my mouth I filled out all this junk. I was talkin to John (her father) about how i didnt have any real gentic diseases in my family history, cept cystic fibrosis he nonchanlantly says yeah.... i had an aunt that died of that when she was 6 mos old. I very causually mentioned it to my ob/gyn and she tested both of us to see if we were carriers, we were.. and then sent us to a genetic counsolor. Thats were they did the CVS. As far as I know Arionna was the youngest patient that had ever been seen and already diagnosed at the CF Clinic. She was 4 days old when she went there and was started on creon 5 and chest percussions n stuff immediately.... I think it made a WORLD of difference! I had like 5 months to prepare.... research.... and come to terms with it.. instead of going through the shock of having a baby.. and then dealing with a sick baby... not knowing whats wrong..... i always knew... and i was okay with it... i think everyone should buy that dang on book!!!! It may have saved my daughters life. =)

 

[PinkRaysOfSunshine]

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[PinkRaysOfSunshine]

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[PinkRaysOfSunshine]

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[wuffles]

I was diagnosed by the heel-prick test very soon after I was born. I probably would have been diagnosed not long after even without the screening, as I could not put on weight as a baby at all.

 

[wuffles]

I was diagnosed by the heel-prick test very soon after I was born. I probably would have been diagnosed not long after even without the screening, as I could not put on weight as a baby at all.

 

[wuffles]

I was diagnosed by the heel-prick test very soon after I was born. I probably would have been diagnosed not long after even without the screening, as I could not put on weight as a baby at all.