Impatiently Waiting: Our lives from Kamryn's birth to her official diagnosis

Kamryn was born on July 21st, 2011, and I will never forget that day! I was at home painting when my contractions started. I had already been to Labor & Delivery twice with false labor, so I pushed the pain aside and assumed it was my mind playing tricks on me. I called my sister to come over and sit with me for a little while. Deep down, I obviously knew it was the real thing. The pain started getting gradually worse. By the time I made it to the hospital, I was already dilated to a 4. I wasn't even sure if I was in labor until they checked. Within 45 minutes, I was already dilated to a 9! It was too late for an epidural, so they started getting me ready for labor. I felt like I couldn't bare the pain, but I couldn't wait to see my baby. Giving birth is such a painful, yet amazing thing. Anyway, Kamryn wound up being breech. She had one foot up by her head and one down in the birth canal. How they didn't know that before, I'm not too sure. So, I had to undergo an emergency C-section. That definitely isn't the route that I planned for, but it was all worth it. 2 hours after giving birth, I was wheeled back to my room. Shortly after, Will walked in with Kamryn. I can still remember every detail of that moment. Tears started rushing down my face uncontrollably, and I said, "Hi baby!" Hi baby? That was all? There was so much that I wanted to say to her, but that was all that came out. She was so beautiful and perfect in every single way. From that very moment, my life changed.

We took Kamryn home on Sunday the 24th. We were the most proud parents alive. Will's mom and sister had cleaned our apartment spotless as a surprise... I was on top of the world. Things were great, other than the fact that we were sure Kamryn had colic. At Kamryn's 1 week visit, the doctor noticed that Kamryn had a large belly.. but, instead of checking for a problem, he told me that I was overfeeding her. Yes, that's right.. overfeeding her. I was puzzled. I tried to explain to him that she only ate 2 oz every 3-4 hours. He then proceeded to tell me that everytime a baby cries does not mean that you should stick a bottle in their mouths. Needless to say, I left that doctor's appointment very upset. It didn't take long before we were back at the doctor's office. Kamryn had a big problem with crying.. like I said, we thought she had colic. She cried nonstop. She would cry until she stopped breathing and her face was bright red. This scared us half to death. She also had a problem with her stools. She had diarrhea constantly, and I noticed that her fontanels were sunken in. I took her to the doctor to see if she was dehydrated. They quickly took a look at her and told me she was fine. Little did we know, the poor baby had MONO! If we had known that, we would have kept from swapping her formula a total of SIX times - that is including breast milk. You would think they would have known to look deeper into things. At Kam's 1 month visit, I asked the doctor about checking her belly, and he quickly looked at it and said it was fine. I'm telling you, it is crazy how a mother knows deep down. I remember telling my husband that something was wrong with her. I just knew it. During this next month, we really started noticing how large her belly was. We also noticed that her stools were sometimes a bright neon yellow. I was told that was stomach acid, but after researching through other family stories, I am beginning to think that could have been related to the NPC. We also noticed dark brown pee- something that another NPC child had a problem with. I took a brown pee diaper to our doctor, but he said it was normal. At Kam's 2 month doctor's visit, we saw another dr in the same office. She took a look at Kamryn's belly, looked at us, and told us that her liver and spleen were enlarged. She told us we would have to go to the ER at Children's hospital. I panicked! I had so many emotions going through my mind. I knew it. I knew something was wrong. That darned doctor should have known. I tried to tell him that I wasn't overfeeding her. Will's mom was with us, which was truly a blessing. I don't think Will or I were in the state to drive.

This picture was actually taken at the doctor's office before we left for Children's. We wound up staying at Children's for 3 days. They took a total of 30 cc of blood, did 2 ultrasounds, an Xray, an eye exam, and other testing. We were terrified. We were introduced to the metabolic specialist in Birmingham, and we started seeing her every since.

Look at that beautiful smile!! Her smile has helped keep me going through  all of this.

Kamryn was tested for just about everything you can possibly think of. Everything was coming back fine, except the mono. I started to justify it with that. Everything started to make a little more sense, and I just knew that it was only mono. Unfortunately, it wasn't just that. It's something much worse. After the last test result came back fine, the specialist decided we better do a few more tests.

On Halloween, we had to go to Children's Hospital. They did a bone marrow and skin biopsy. They found that she had storage in her cells. I started trying to justify it again. Maybe it was just the mono in the cells or something. I tried so hard to keep my faith, but day-by-day I started to lose a little bit of it. I would go to sleep everynight feeling like things were fine. It was all going to be okay. Then, I would wake up and feel like I was living a night mare. The first thought in my mind would always make me panic and my heart felt broken because I knew that something was wrong with my baby, and there wasn't a thing that I could do to fix it. Almost a month later, on 11/29, we received the phone call. The doctor seemed to have a strange tone in her voice, and I knew right away what she was about to tell me. I can't even explain how I felt. I mean, I had prepared myself for this, just in case it was what she had. But, all of that preparing was shot to hell when I actually heard those words. "Mrs. Brumbeloe, I am so sorry to give you this diagnosis, but your daughter has Niemann Pick type C... Mrs. Brumbeloe?" I couldn't speak. I just wanted to curl up in a ball and cry, but I knew I had to be strong. "Yes, ma'am," I finally responded. "Are you okay?" she asked. I wasn't really sure how to respond to that..... Am I okay? What do you mean am I okay? I am mad and hurt. You just told me that my daughter has a life threatening disease. How can I be okay? I just wanted to scream. I knew that she had good intentions by asking, but I was just so upset. I couldn't seem to find the words that I needed to say. So, I tried to pull myself together, and ask her the questions that I needed to. After hanging up the phone, I lost it. I looked at Will and I just couldn't hold back anymore. He wrapped his arms around me, and I think I would have fell on the floor if he hadn't been there to hold me up. I just couldn't believe it and still can't. I know that I have to get myself together and get the ball rolling toward a treatment plan. The thing is, I might be totally broken down and completely upset, but I will never give up on my faith. I have been making phone call after phone call to get everything all lined up. It almost makes it seem more surreal.