The Answer

During Taylor’s first stay in the hospital she had almost 50 mL of blood drawn for different genetic tests.  And for those of you who may not be aware, 50 mL is a lot for a twelve pound baby. The nurses affixed the intravenous (IV) on each of her little hands then when blood would not draw from the veins on her hands, they resorted to her head and last resort was her neck. You can imagine how stressful an experience this was for a mother to witness and hold her baby down as they are screaming. It was a horrible ordeal and I hope Taylor never has to go through that again.

Six weeks later when the lab results were in, I met with the Geneticist on a Wednesday morning.  I recall her initial question to me, "What were you expecting from this appointment today?" Naturally, I was confused. What do you mean what was I expecting? I calmly answered her, "We were told we would have our daughter’s diagnosis today." The Geneticist was quick to advice, "The lab will not release results to me since I was not the ordering physician." Looking at Taylor she went on to evaluate her condition. The doctor discussed with me the similarities between Taylor and Pader-Willi Syndrome then said, "Well, I’ll contact you back when I receive the actual results and we can schedule another appointment." What?? How could this still not be taking care of? It’d been five weeks since I had scheduled the appointment!

By this point, I was holding back angry tears. What’s with delay? I can’t take all this waiting! I needed to know if my daughter was going to be alright and having to wait as much as a day more I felt robbed of peace of mind.  More than anything I needed the diagnosis for my own healing process. Later, unaware of my turmoil the doctor simply called and asked, "Could you come in Monday to discuss the chromosome Taylor is missing?" Monday…really? How could she say this to me and leaving me hanging? Why?? Oh wait, perhaps, what they had to tell me was horrible news...yes, that was it. The doctor couldn’t tell me something so awful over the phone, right? And while I sort of understood that, I still cringed, what would I do with myself for five days?! Cry actually. Yes, I cried for two days straight and Googled, in between. Yes…Googled! Well, I just had to know so researching for hours on end about symptoms Taylor had similar to Pader-Willi Syndrome was my therapy except that after learning all the 'what if’s' I was a wreck.  The research had taken a toll on me and by time late Friday afternoon came around I was losing it.  Bawling my eyes out I decided to call the Geneticist’s assistant and asked, "Does my daughter have Padri Willi Syndrome?" The assistant pleasantly answered, "No, but the doctor will discuss with you the chromosome deletion Taylor has." For me that was enough to comfort me for the time being. Since, obviously I could not Google about nothing I knew.

Monday rolled around and Max, Taylor, and I sat in the doctor’s office yet again and this is when the doctor finally explained Taylor’s condition while explaining chromosomes to us as well:  Taylor was missing line 37 on the bottom (referred to as Q) of her second chromosome, hence the reason the condition is labeled, 2Q37 Deletion Syndrome.

That very same day we received a packet that contained all the information the doctor had regarding this very rare syndrome. I will always remember this day, because this was one of many times that Max’s positive attitude shined through; he turned to me and said, "This is good.  We can work with her and Taylor will be okay." He was right, now that we knew what her condition was we now had the roadmap, the GPS of sorts to guide us along the way.  Most importantly, I, we, now had an answer.

I did not cry that day, I actually felt empowered.  From then on in I was going to do everything in my power to help my Taylor live a long, productive, amazing life!

Thank you Maria Piork for helping edit. Please be sure to follow her at Marialovestowrite.blogspot.com.