Thinking of Warmer Times

As the Northeast gets even colder…and colder, I reminisce over warmer times. This summer was highly anticipated for us. We looked forward to vacations, days at the beach, and our first time attending the PKS Kids conference.

In July we headed to Minneapolis to attend the biennial conference for families with children diagnosed with Pallister Killian Syndrome. This was just six months after Pal was officially diagnosed. Being able to connect with other PKS families, seeing Minneapolis, allowing Alan to make multiple Mighty Ducks references, there was a ton to look forward to. One of the main reasons for attending was to simply become more educated. We had the chance to listen to leading doctors and geneticists who lead the research on PKS.

Paloma was the youngest PKS person at the conference and was warmly welcomed from the start, by online friends who have been supporting us since Day 1. The weekend started with a bit of anxiety. For the first time, we were able to meet and interact with kiddos who were all over the huge developmental spectrum of PKS. Pal was accepted. This was a win that we know won’t always come easy.  

Alan and I learned some Genetics 101 (or tried to learn), took a massage class (which we still use with Paloma to help with her BM’s), and connected with a handful of families to soak up all the knowledge from experience.

We were fortunate to personally meet with Dr. Ian Krantz, from the Children’s Hospital of Philadelphia, who leads the research on PKS. He ran us through a research gamut, asking about my pregnancy history with Paloma, her own medical history. After briefly examining her, his opinion was that she is on the mild side of PKS. That was huge for my parents who continue to struggle with what Pal’s future will look like. While our grief with the diagnosis was fairly brief, my mother still very much grieves the baby she thought we’d have. She grieves the typical baby we were all expecting. And that is okay. I just have to keep reminding her that God has a purpose for Paloma and although we may never fully understand it, she is alive and thriving and we should be extremely thankful for that. 

Another highlight for us was meeting the siblings of PKS kiddos. These conferences have been held every other year since 2006, so these siblings have essentially grown up together. And the compassion...goodness the compassion they have for their siblings with PKS, it is amazing. We hope Ben and Rori have half of the compassion these kids pour out. Ben turns 5 in March and he is beginning to really understand Paloma is different. He even asks me from time to time, “Paloma might have a wheelchair, Mama?” I reply, “Yes, Ben. She might have a wheelchair and that is okay because that is how God made her.” He usually replies with something along the lines of, “Yeah, that’s good.” Yes, my son, God is good and all He does is good, even if we cannot see it at first. Rori, on the other hand, is turning 3 so she does not comprehend how special Paloma is just yet. Sometimes, she stops and asks, “Why does that girl look like that?” I usually reply the same as with Ben, “Because God made her that way. She’s so special!” And then she goes off to do the next toddler thing.

There were 53 families in attendance at the conference this year. Currently, there are about 450 official reported cases. What is mindblowing to me is how connected the PKS community is, considering how rare the syndrome is. I am utterly grateful for all the parents who have been such huge advocates for their kids the past 10 years or so, making it that much easier for Alan and I to access resources and information for Paloma now.

I’m excited to see what our journey will look like 10 years from now! 😁