Our trip to Maryland

We left home yesterday (Sunday, January 8th) around 4 AM to travel to the National Institutes of Health in Bethesda, Maryland. We landed in Baltimore and took a taxi over to the NIH campus. Once we arrived on campus, we were taken to the Children's Inn. The Children's Inn is a place where families can stay for free. The Inn is amazing, and the workers are some of the sweetest people. The Inn has so many different things for families to do. There are different "wings" of rooms. Each wing has a kitchen that is shared. The kitchen is stocked with utensils and supplies, and each family is given a key to their own fridge and cabinet space. There is a family lounge where two meals are provided daily. At the Inn, there are also 2 living rooms, an infant play room, kid's play areas, 2 computer rooms, a teen room, a meditation room, and a work out area.

 My favorite room would have to be the meditation (prayer) room. In this room, the lights are dim and music can be played softly. I played a beach CD that they already had in the CD player. There are various books and bibles to choose from, as well as a prayer book. The prayer book is composed of prayers and thoughts of others who have stayed  at the Inn - from years ago to today. There are children and parents who have all written in it. It is so heartwarming and helpful. It was healing, and it really helped me to read the thoughts of others who were going through something similar. There are good days and bad days for us..most days we are positive, but there are days when we have to fight to stay strong. Yesterday was one of those days for me. I guess coming here is so sad because it reminds me just how real this all is. I mean, I know how real it is, it just makes it harder. I can't really explain it. I just know that on days like yesterday, I have to walk myself back through why everything is okay. I have to somewhat rebuild my faith and remind myself that God is here.. He will never leave us, nor forsake us. So, last night when I was reading through the prayer book, I turned to a page where a child had written a prayer and traced his hand print. Before reading what he had written, I placed my hand over his and just thought about where that hand might be now. I started reading what the prayer was, and it really touched me. The prayer read, "I pray that my hand will touch the hands of someone who is hurting and will bring them peace." WOW! I haven't been able to finish reading the prayer book, but I will before we leave, and I am sure I will have more to share.

Today, we met with Dr. Porter and Nicole. We admitted Kamryn into the hospital, and then met with the two of them. We discussed the procedures that will take place tomorrow and Wednesday, and we caught them up on Kamryn's story. Dr. Porter checked Kamryn out, and he found that her liver is no longer enlarged!! We are so thankful for this!

Kamryn is 27 inches long, 15 lbs., and her head was 43 cm. Her blood pressure was 116/83, and her temp was 98.6! Her attitude was optimistic, and her smile was contagious!!! :)

Tomorrow, Kamryn will undergo sedation and they will do a spinal tap, skin biopsy, and hearing test. Please say prayers for her.


1/16/12
The rest of Kamryn's trip went pretty good. We were able to spend a lot of time with Dr. Porter and his nurse practitioner, Nicole. They are both so passionate about the disease and so nice. We learned more about Kamryn's mutations. One of the mutations is the most common mutation among NPC children. The doctor told us, "If you wanted her to have a mutation, this would be the one that you would want." There is a lot of research going on with this particular mutation, and they are currently working on figuring out how to trick the cell into processing the Cholesterol. This is very hopeful. Kamryn's other mutation is pretty bad. It causes the cell to stop breaking down cholesterol at the beginning. However, if researchers are able to figure out how to fix the other mutation, we wouldn't necessarily have to worry about this one. It's so complicated and so hard to explain. So, maybe you guys understand what I mean.

Results
- Kamryn's liver enzyme levels were high; however, this is expected because of the disease.
- Her liver has gone back down to a normal state.
- Her spleen measures 4 cm below the rib cage. (It is supposed to be right at the rib cage.)

Overall, our trip was very informative and went pretty well. It was very hard on all 4 of us, but we were able to help each other get through it.

We will be going back to the NIH every six months. Kamryn is the youngest that they now have data on. They will be able to track her, and it will hopefully help them tremendously with NPC research. My hopes are that she will be involved in helping them find a cure. My heart goes out to all of the NPC families out there. I can't express how hard this is, and I can only imagine how hard it would be if we would have found out at a later date. I am so thankful for the doctors who helped us discover what was going on.

These are the pictures taken by the NIH photographer for documentation of her growth.

 He let us get in one.

 Monkey toes like her mommy.

 She has her mommy's hands too.

 Cute feet!

 Standing Tall!

 Front 

 Side

 She thought it was time to JUMP! 

 Ready to go!

 Beautiful

 I will always be there to hold her hand.

 Sleeping with Momma.

Family 

 Loves her Meme

 Daddy time

 Cutie

 Love time with her

 Sweet baby

 Playing with Dada

 These balloons had lights in them.. SO COOL!

Aunt Kristi decorated for Kamryn's arrival. It was so sweet. She had pink and silver. Silver for NPC & pink for Baby Kam.

Love it when she laughs!