It's been almost six months since Lucia was diagnosed with Pallister-Killian Syndrome. The most difficult night of my life was the night before she was diagnosed. The unknown of what may be... the fate of our new baby's life...
A few days after Lucia was born she had a genetics test. The doctors sensed something was different- 'there were markers' and so they did a 'FISH test/genetics test for the big syndromes' and then without much emphasis, 'we will also do another test that takes a couple weeks to get the results. But don't worry about that, they don't ever find anything." On day 3 of her life, the results of the FISH test came back and were normal- REJOICE, REJOICE, EMMAAAANUEL!!!! We drank champagne, and were released from the hospital the next day....
One week later, at 11 days old, my mom and I were at her pediatrician's for a jaundice level check-up. We had been there every day that week to check her levels and every time Dr. Brandon had a spring in his step, a lightness about him, and always a comment about Lucia...if she is delayed for any reason we'll catch it early, if she can't skip right away, we'll know how to treat it...needless to say he made me feel better. This visit was different.
Earlier that day I received a call from "the assistant to Dr. Bellis at the genetics clinic from The Children's Hospital." I didn't think much of this as I didn't talk to her, she just left a message and I was focused on jaundice...
On this last visit of the week, a Friday, Dr. Brandon entered the room in a much different way..a much different aura than he had ever exuded. "So...I just got off the phone with the geneticists from Children's and they found something in Lucia's secondary test. She has an extra short arm of the 12th chromosome. We don't know what this means or if its 100% but we'll find out and go from there." I kept it together and answered "ok and thanks, yes I'm sure I'm ok" and he left the room. The second he was out the door my mom and I looked at each other and cried and embraced and loved on Lu. What this all meant we did not know. I promised myself not to look online at any of this...what was the point..nothing was for sure at this time.
We shared the news with close family and a few friends and counted the days to our scheduled appointment with TCH/The Children's Hospital. Fortunately, Dr. Brandon pushed to get us in right away as the wait list for a clinic was over EIGHT MONTHS LONG!
The night before the appointment Jason was out of town for work, it was storming and pouring down rain outside, it was dark, I was alone and trying to stay positive and then I lost control. I cried and cried and sobbed and sobbed and sang and held my precious baby girl in my arms. I didn't even try to hold back tears, I shivered with sadness, and what may be for our little Lu. Would she walk, would she talk, would she smile and feel loved... I quivered with tears of the unknown. I couldn't be alone anymore so I texted Kim to come over and she did, right away. I cried myself to sleep rocking little Lu and woke up to another rainy day, for a highly anticipated appointment.
May 11th, Lucia was 15 days old. Jason, Lucia and I sat in the genetics waiting room for over an hour and watched families with children of syndromes come and go... we watched these different children, and held hands and kissed Lucia and didn't say too much as our thoughts went up and down like a roller coaster. When it was our turn, many of my worst fears were confirmed to be possible. She may not walk, talk or live to be past 18-the latter is not proven to be true. BUT there was an answer and her diagnosis had a name. We were given two sheets of paper with her specific information on it, shown above. There were many more papers printed off the internet, and there were other people to talk to about this 'less than 300 in the world' syndrome. And somehow the unknown the night before, at that point, seemed to be worse than the known that day. After three hours with the genetics counselor and doctor, we left with a stack of papers and were told "We'll see you in SIX MONTHS." "SIX MONTHS! ' Where will we be in SIX months, HOW will we be in SIX months...that is so far away...can we do this?!
But here we are, six months later and we are proud and great and so happy and so in love with our girl named Lu and WE MADE IT! October 28th, the long awaited appointment has arrived and now we're not even expecting too much from tomorrow's visit. One thing we have learned in the last six months is there may be a lot of information and studies and great doctors, but no one truly knows what the future holds, for any of these special kids, or for any of us.. so tomorrow is just another day. Another day to love our Lu and another day to 'choose the dog' as much as possible. Of course, we are eager to learn more and find out as much as possible so we may give Lucia the best she can be, but we know God has a plan for Lucia and no person, no doctor or specialist can tell you exactly what that journey will be.
Thank you Taryn and Teagan for visiting Lucia and me today. Your messages, kind heart, generous giving to PKS Kids and special gift have been -just that-so special. I look forward to having our girls being friends and becoming better friends with you too! Thank you Linda, Sara and Susie for a fun lunch today. Thank you Aunt Dawn for Lucia's first Uggs! Thank you Laura and Kim for celebrating Lucia's six month birthday-you two have been by our sides since day one and I love you!
And thank you all and www.PKSKIDS.com families, for helping make the past six months the best of our lives- especially YOU, our baby LU! We LOVE YOU!
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| special gift from Taryn Wilson for Lucia :) |
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| Lucia's first snow in her new pink pom pom hat! ps-the pom poms are not bigger than her head..funny angle :) |
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