LAURA AND AMY!!

DNA tested Positive Incontinentia Pigmenti via CVS in utero - Born May 2007 at The Hospital of the University of Pennsylvania by Children's Hospital of Philadelphia Doctors

2nd generation IP2 - NEMO gene deletion mutation - normal-sized band and the 8 Kb junction fragment

{ MOM - 1974 - 1st generation IP2 / new (spontaneous) mutation - common deletion mutation in one NEMO gene - heterozygous for the 8 Kb junction fragment }

Our Story – Written by, Mom, IP Angel, Laura Palentchar-Richter

I was born in 1974 and after misdiagnosis a biopsy was preformed within my first year of life. The biopsy at that time confirmed Incontinentia Pigmenti and was assumed that I was a spontaneous mutation. 

The International IP Research Consortium (IIPRC),http://ipif.org/directorsletter.html, which was organized in 1996 by Susanne Bross Emmerich the Founder and Executive director of Incontinentia Pigmenti International Foundation (ipif) began research to find the IP mutation. My immediate family and I along with many other families volunteered blood samples for this research. On May 24, 2000 there was a Press Release regarding the IP mutation discovery,http://ipif.org/press_release.html , and it was at this time that we received my personal report stating that I was in fact a confirmed spontaneous mutation of IP.

I became pregnant in 2000 and because of the above study my baby was able to be tested in-utero via CVS. The initial results came back first showing that I was having a baby girl and the final results showed she was in-fact Negative for IP. She was born healthy on May 19, 2001. 

In 2006 I again became pregnant with my second child. I had a CVS preformed for this pregnancy also and the initial results showed I was pregnant with another baby girl. The final results however this time showed that she was in-fact Positive for IP. I delivered her on May 2, 2007 with Children’s Hospital of Philadelphia as a case study. She presented at birth with the clinical appearance of IP. 

My IP Angel is now 6yrs old and is a bit of a medical mystery regarding the neurological aspects of IP. She has been affected more severely with IP then me, but is the light of our lives and brings smiles and laughter to us every day.

Thank You and Best Wishes to ALL
*The above links are by and from Susanne Bross Emmerich atwww.ipiif.org





I WOULD LIKE TO THANK  LAURA FOR SHARING HER STORY WITH US. 



THANKS

SUSIE.XX