The Real Update- The New Diagnosis

After a lot of thinking and praying Ben and I decided to go through with the additional testing to see if Lucy’s Trisomy 12p was hereditary or if she had it by complete random.  Our insurance was not going to give us the go ahead, so we took a different route and worked with the company Lineagen.  They were the company that did Lucy’s micro-array cheek swab, and they agreed to do a “FISH” blood test on me, Ben, and Lucy.  The test was going to compare our chromosomes to see if there were added pieces and to see how it matched up to ours, whether Ben and I were carriers of the Trisomy 12p.  We had to jump through a few hoops but we finally got all of our blood drawn at the University of Utah lab and sent it to Lineagen to process and perform the testing.  

The blood draw was on June 17^th, and we hoped to get back results before we left for Europe on July 1^st.  I didn’t hear anything from Lineagen as the days approached our departure to Europe and I became a little impatient.  The results were pretty important to us, as we want to someday think about having another child and we wondered if that would entail having another potential “extra chromosome baby.”  We left for Europe and didn't arrive back in the United States until July 10^th.  I got a hold of Lineagen the next day and they said they had the results back but that they were too complex to just send over an email.  They said our doctor, Dr. Sarah Dugan, would call us with the results the next day (Tuesday). 

Two days later, July 14^th on Thursday afternoon, I finally got a call from Dr. Dugan and talked to her for about 15 minutes.  She told me that the FISH blood test didn’t find that Lucy had any Trisomy 12p in her blood.  For a split second I thought she was maybe “healed” or something, but she went on to explain that they now decided Lucy has Tetrasomy (4 copies) of 12p, which actually has a name “Pallister-Killian Syndrome.”  It is also always a mosaic syndrome, meaning that it is NOT hereditary and is not likely to happen again.  It’s a little bit more common, 1 in 20,000, and has similar and some overlapping symptoms as Trisomy 12p. Some of the more obvious symptoms that Lucy has is the hypo pigmented skin (her white spot on her forehead) and sparse hair.  The fact that she is mosaic made sense also, as she is doing so well in her progress, despite her diagnosis.

So, Lucy’s diagnosis is officially Pallister-Killian Syndrome “PKS”, AKA Tetrasomy 12p mosaic syndrome.  We are still learning all the specifics of this "new" diagnosis and joining other Facebook and family support groups. Don’t let your google search of PKS on the internet scare you, some of the cases seem quite grim and sad.  Lucy is a literal angel and is doing so well in her development.  Only 30% of kids with PKS ultimately walk and Lucy learned to walk at 16 months.  75% of kids can’t communicate by 18 months, and Lucy can already say 50+ words at 18 months.  We are very grateful and hopeful for her future but know that we might have to work extra hard to get there.  We’re up for the challenge!