Friday, May 10, was one of those days every NICU mom fears. It's that moment when you round the corner to enter your little baby's room only to find unfamiliar scrubs surrounding her little isolette. A specialist from a more intensive hospital was in town and our pediatrician had asked him to just take a quick peak at our Kimber. I called Shawn and he was there before the specialist had finished with his exam. The news he gave us started us on what would be one of the longest, hardest weekends of our family's life.
He explained that they were concerned about Kimber's lack of development. While she didn't have any huge and obvious medical concerns, they were worried about the amount of time she seemed to spend in deep sleep and especially concerning was the "floppiness" in her arms and neck. He explained that even though she was premature and had a stressful birth (which can sometimes cause these conditions) it was not normal for it to be this severe or to last for this length of time. He suggested we move her down to McKay Dee Hospital, an hour away, where they were more equipped to do the tests that we needed and would be able to consult with Primary Children's Hospital in Salt Lake City and maybe find us some answers.
The tests began as soon as we arrived and those first few hours were chaotic and scary. We met new doctors, new nurses, answered questions, and asked questions. At the end of the day we had lots of tests sent off and lots of theories but no answers. An EEG was done shortly after arriving and we were told that our little girl was having seizures. They had no explanation for it and ordered an MRI. Shortly after that we started hearing the first theories in the medical worlds attempt to label our little girl. Some we had heard before, muscular dis-trophy, cerebral palsy... some we never had, Zellweger syndrome, Lissencephaly... they all had only one thing in common: the long term picture did not look good.
Sunday morning, Mother's Day, we woke up and went down to the NICU. Our doctor met us and asked for a moment to speak to us in a conference room. He explained that while they still did not have an official diagnosis, the doctors on her case were all in agreement that it looked as if Kimber's brain failed to develop properly sometime probably very early on in the pregnancy. He explained to us that while they didn't have an exact time frame, we could expect Kimber to eventually outgrow her brain. He explained to us that likely we only have a couple months with our Little Princess.
I'm not even going to attempt to put into words the emotions in the room at that point. Every fiber of my body wanted to scream. As the doctor and nurses quietly and respectfully left the room, my wonderful husband held me tight and we cried for our little girl.
The next few weeks we prepared to take our little girl home. She was taken out of the safety of her little isolette to learn to regulate her own little body's temperature. We began aggressively weening down her oxygen (which she had been put back on shortly after arriving at McKay Dee) to a level that was acceptable to be sent home on. We started talking about feeding tube options. For some reason I never felt really good about us going home with an NG tube (a tube that goes up through her nose and into her stomach). I asked for a consult with Primary Children's hospital to find out when we would be eligible for a G-Tube button.
While we were waiting to hear back from the surgical team the most amazing thing happened. Kimber started to wake up. She cried her first cry since being born. She began moving her arms, legs and neck. She started rooting and showing tiny hunger cues around feeding time. All the things the doctors told us she would never do. They were shocked. They admitted they were all out of ideas and no longer had any other theories. They called Primary Children's Hospital and arranged our transport and recommended Kimber for a G-Tube.
Shortly after we made the transfer to Salt Lake we met the genetics team. That was the first time we would hear the words "Prader Willi Syndrome". I instantly started asking a million questions, "What is it? What would it mean for us? What is the life expectancy?" The team told us to relax and not worry about it until we had a confirmed diagnosis. We got the G-Tube placed and were sent home with the test that offered answers to all our knowns still pending results.
On June 29, Kimber's 2 month birthday, we got the call. Kimber's test results came back with abnormalities on the 15th chromosome. She had tested positive for Prader Willi Syndrome. I instantly burst in to tears. I was so relieved that it wasn't the long list of terrifying diagnosis they had been rattling off for the last 2 months. I was absolutely TERRIFIED of what this new label meant. I am SO grateful to the mothers who instantly reached out to me through Facebook and phone calls. The ones who assured me it would be okay and who promised me my little girl would work harder than any child I had ever seen to accomplish things I never thought she could. I am grateful to those mothers who are paving the way, who shared pictures and videos with me from across the country to show me the improvements their own Lovebugs are achieving despite all odds.
The Prader Willi Community is an exclusive club. It's not one you ever necessarily beg for a membership in, but once you have a ticket in, you don't know how you ever lived without these incredible people. We band together and cheer for each tiny milestone, we boost each other up through each little set back, and together we fight for a brighter future for our kids.