Tuesday, October 27, 2009

My emotions are overwhelming this evening. Jake and I had a true heart to heart after watching The Biggest Loser. That Abby, what an inspiration she is. Its funny the things that can trigger our emotions. Jake and my relationship is stronger than it ever has been. I have the best partner to go through this journey with.

I was telling Jake tonight that when we got Livia's diagnosis it seemed like everyone would always say the same thing to me. They told me to live for today, don't focus on the future. This made me angry to hear. I couldn't understand why people were telling me this. How could I not think about our future. However, since the dust has somewhat settled since her diagnosis I can say that this wasn't terrible advice. This isn't easy to say or admit, but I feel like we've been given a gift. I LIV each day with my eyes wide open. I take in every laugh, every hug, every nap/cuddle, every everything! I feel like the way in which we were living before this diagnosis was in a way taken for granted. My friend Stefanie put it in a good way. She said before this we were living in black and white and now our lives are in color. I love that. We don't know exactly what tomorrow is going to bring. I cherish my days with my whole heart. I am scared of our future, but I know it's going to all work out. Right now my focus is on being the best mom, wife, sister, daughter, and friend I can be. I can honestly say that I am happy. I have 2 beautiful girls who are so happy and full of life. I have the BEST husband that is my guardian angel. I have a wonderful support system of family and friends. I truly feel blessed. I also have to say that I have a renewed faith in God since all of this. I did have my moment when I was angry and confused with Him. This is such a comfort to me that I can talk to God now and read His word and feel connected with our Savior again. I've always been a Christian and believed in God. I had a bad experience at church when I was younger and I think that turned me away for many years. I didn't understand a lot, and didn't know the right questions to ask. When Jake came into my life, he answered so many things for me and explained a lot. I'm still in awe of his knowledge and how strong his faith is. I finished reading the book "Holding onto Hope." If you have a chance to read this, please do. Especially if you have suffered the loss of someone, are going through a difficult time, or just need some insight on how to cope with an emotion. I feel like I'm all over the place with this post, but I'm just letting my heart sing. One more thing before I go.............if you know someone who is going through a hard time.........be there for them. Just tell them you love them and are thinking of them. I regret not doing this more in my past. It breaks my heart to think that someone might have thought that I didn't think about them or was praying for them. People can't read your minds, or your hearts. Be honest but most of all let them know you are there. It's so awful to feel like you are alone.

But I am trusting you, O Lord, saying, "You are my God!" My future is in your hands. (Psalm 31:14-15)

Monday, October 26, 2009

Our story

It's hard to know where to start with something like this. It's not an easy thing to just strike up a "blog" and say our 2 1/2 year old daughter has been diagnosed with a terminal illness. Well, I said it and now it's out there. I can now begin our story and tell you how we've come to this place in our life.

Jake and I have been married for almost 5 years now. We have 2 beautiful girls named Livia Grace and Finley Faith. They are our world! As I said before, Livia is 2 1/2 and Finley is 5mos. old.

I'll never forget the first time I saw Livia. She was delivered by c-section due to a breach position. As the Dr. dropped the sheet to show me Liv, I looked up and there she was. Dark hair, pursed red lips, hands and feet curled to her body. Is was if time stood still while I was looking at her. I know this moment only lasted a second or two, but I remember it so vividly. Life was so great. We had a perfect 6Ibs 4oz perfect little girl. Livia was a very easy baby. However, she never wanted to be put down to sleep. When I had to go back to work, I was so fortunate to have my sister and grandma watch Liv. They both had a difficult time putting her down. I always blamed it on the fact that she was breastfed and she always feel asleep in my arms. Honestly, I didn't mind. I tell people now that I think I held her for the first 18mos. of her life. (That's how long I breastfed her). As Livia got older, things seemed to be going just fine. She ate anything, and still does. She was a happy baby. She hit her milestones when she was suppose to when it came to rolling over, sitting, crawling, babbling, etc. The first milestone she missed was walking. She didn't successfully walk on her own until she was 18mos. old. No biggy........she did it. We then noticed that she was having these "episodes," as we refer to them. They usually occur when she is sitting at her Tinker Bell table coloring. She will sit on the very edge of her chair until she is almost falling off, cock her head to the side, hold her breath and let it out with a sigh, and pulse her legs. We thought she was having seizures. We took her to see a pediatric neurologist who suggested doing an MRI. That came back and showed nothing. He then suggested a 24 hr EEG that would be performed in our home. Again......nothing. In the mean time we had started her with speech therapy. She wasn't really talking like other kids her age. This therapy went on for awhile, but we weren't really seeing any results and the therapist wasn't for speech she was a developmental therapist. We decided to take a break from the therapy and just go on with our daily lives. At one of her routine check-ups it was suggested that we have her seen by an ENT Dr. and have her hearing checked. That made sense to us. If she isn't hearing correctly then how can she form words correctly. This seemed like it was going to be an answer to all our whys so far. The ENT Dr. determined that she would benefit from her adenoids being removed and tubes put in her ears. Livia has always been a "loud" breather while she sleeps along with a constant runny nose from the day she was born. During this surgery they were going to perform an ABR. This is the most accurate way to test the hearing center in the brain stem. Unfortunately Livia came out of anesthesia too quickly to get an accurate reading. After her surgery, the Dr. came out to talk with us. He mentioned that he noticed some things with Livia that might benefit us talking with a geneticist. I didn't really think much about it at that time. We had started speech therapy again, but with someone new. After a few weeks with her she mentioned to me that they had a child in their facility with similar characteristics as Livia and that we may want to consider seeing a geneticist. WAIT...... didn't Dr. Zaya say that to us???? OK, I was starting to think maybe we should see someone. I decided to make a call to Dr. Hoganson's office who is a geneticist in Rockford. We met with him and Christie Munn (genetic counselor) I went through our story with them. He did a once over on Livia and wanted to do a urine test. We got the results of the test while we were home for a 2 week visit. They told us she had tested positive for MPS. Of course the first thing I did was run to the Internet and read about it. All I could see was that it was terminal, no cure or treatment. I screamed. Jake, Liv, Finley, and I drove back to Rockford that day so that we could see Dr. Hoganson the next day. We met with them again and they explained that they would have to do a blood test to determine what type of MPS it was. They were pretty sure it was Sanfilippo, but couldn't be sure without the blood test. We did the blood test, and drove back to central Il. This time is a little hazy for me, so I'll just move on. It was a waiting game. During this time we did speak to the MPS society. They suggested that we not read anything until we knew exactly what we were dealing with. This was somewhat peaceful for us. Then the time came to get the results. Sure enough it was Sanfilippo Syndrome. Oh, did I mention we had an 8 week old baby at this time. I didn't know where to go or what to do. I'd never felt so out of control in my entire life. Every time I looked at my beautiful little girl, all I could do was think that I was going to have to bury my baby. How are we suppose to go on? We of course had Finley tested right away. She would have a 25% chance that she would have this disease. The waiting game was on again. I honestly had a gut feeling that her test would come back negative. I just knew that she was born for a big reason. I felt like she was going to help us get through this. Not that I don't think Livia will help us get through this as well, but I knew that Finley was a miracle. If we would have found this out about Livia just a few months earlier, then Finley wouldn't be here. Needless to say, her test did come back that she did not have the same genetic mutation that Livia had. She is a carrier of this gene.

This is only the beginning of our story. This blog will be our journal. We want to share our journey with you. Just remember to LIV life, and cherish everyday. We love our life, and wouldn't trade it for anything. God bless.