PKSKids.com

Jules and I will never forget the day that Lucia was diagnosed with Pallister Killian Syndrome.  I can almost remember every second of the afternoon.  Driving to the hospital (trying to convince Jules that nothing was wrong with our little girl), sitting in the waiting room watching kids with serious genetic issues come and go from regular appointments, and then finally sitting in the doctors office waiting for the geneticist to open the door.   However, before the geneticist showed up, a "genetic counselor" opened the door with a stack of papers she printed from the Internet.   She walked us through sophomore biology, explaining what chromosomes are and what a normal person's genetic make up is suppose to look like.  Finally, after about 20 minutes of this, she explained that Lucia had an extra short leg of the 12th chromosome in approximately 5% of her blood cells.  She told us that this abnormality was called Pallister Killian Syndrome and only 100-300 other kids worldwide had ever been diagnosed.  While I was still clinging to the hope that Lucia was a normal baby, Jules asked several very pointed questions.   The counselor was a very sweet and extremely intelligent young woman, but was very non committal as to what the diagnosis meant to Lucia.  Mainly, she kept referring to what she had found on the Internet, as she had never met a child with this syndrome.

There were several dated and crude websites with either brief or overly technical explanations as to what was wrong with our little girl.   However, she directed us to www.pkskids.com, a  website managed by an organization call PKS Kids.   The site is similar to a facebook for families touched by PKS.  Parents share stories about life, helpful caring hints, and post pictures of these awesome little angels.  Jules and I both frequent the site and read of parents whose bravery, patience, love, and dedication to their kids and each other is beyond words.   We both hope that we can muster half the strength of these fantastic families.  The organization has also introduced us to other parents who have recently had babies diagnosed with PKS from all over the world.  On two occasions, I personally have met David and Emily Gold on business trips to MN.  The Golds had an exceptionally cute PKS baby named Lizzie on April 20th (6 days before Lucia was born).   Juliet and Emily frequently send each other cute pictures and confide in each other.   They are a wonderful family.   We also recently received a very touching email from Samantha Karol who has been following our blog, which she found at PKSKids.com. She is the mother of a super stud Italian PKS baby from Bologna Italy.   Her son, Giacomo was born a month after Lucia.  We hope to one day visit Samantha and Giacomo.   Honestly, we hope to one day meet all of the kids and parents some day soon!

Juliet and I are extremely grateful to have a place to go where there are other parents touched by PKS.  I know there are a lot of people that have helped PKS Kids flourish, but one mom really made it all possible, who not only started the site and organization, but she seems to be the one that makes the whole thing tick.  Her name is Gretchen Peters.  She has five children and is the mother of Simon, a PKS child.  Somehow, while being a super mom, she personally welcomes all of the new members, organizes events, makes herself available for phone calls, and manages the web site.  She was the first family member of a PKS kid we spoke to after Lucia's diagnosis.  After hanging up the phone, Jules and I both agreed that somehow, we'd be able to make things work.  

Thank you Gretchen and thank you PKS Kids.   Your guidance, strength, information and friendships have given us a chance to be better parents to our special Little Lu.  

Love, 

Jason, Jules, and Little Lady Lu.