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.

9 comments:

  1. Kelly, I just have to say that I think this is so brave of you to start this blog. I feel like such a jerk because I haven't reached out to you and Jake since Livia's diagnosis. I didn't know the right words to say to you both and I'm sure the right words don't exist. To tell you the truth, I'm having a very difficult time with all of this. It's hitting very close to home for me with losing my little niece May last year. Another innocent child with a disease for which there is no cure. I know that you and Jake are strong parents and you will fight the good fight for both your girls. We think about you often and love you all very much! I will indeed LIV life to it's fullest, even when it knocks me down.

    Love, prayers and hugs,
    Lexy

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  2. In lifes darkest moments I have found that talking about things out loud to the people who truly care the most has helped me. I hope that you and Jake find that this is true. The simplest moments in life are the ones with the most beauty - an amazing blue sky, the warmth of sun on your face, a child's laugh...You are loved - Auntie A.

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  3. Parenting is a blessing. It's also stressful, exciting, uplifting,and a whole lot of other things. Most of us do not have to deal with the things that you are coping with now. If I could think of something profound or inspiring to tell you, I would. The only thing I know for sure in my own life is that you need to savor every moment, love each other and trust in God completely. He is the creator of each one of us and knows us better than we know ourselves. Abiding in Him is the best way I know to walk through every day.
    Please know that we are always willing to listen or lend a hand. Keeping you in our hearts and prayers. Aunt Becky

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  4. I was so touched by reading this Kelly. Thank you for letting us be apart of this life journey. As odd as it seems, I find that my walk with the Lord grows and matures the most when I am faced with life challenges...some that I can't imagine how I'll get though. Livia is precious to all of us and especially to her Creator...who never makes mistakes. What a gift Livia is to me - everytime I see her I am reminded of what is really important in life...loving and making the most of how ever many days God has given us on this earth. Thank you Livia. Ginny Smith

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  5. Always praying for precious Livia and her family.

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  6. Just wanted to say I know how you are feeling my 2 1/2 little boy was dx on Oct.16 with the same thing we are waiting to see if our 6 year old daughter has it or is a carrier. I am here if you ever want to talk suzanneqgregory@yahoo.com

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  7. Josyln Unger just sent me your blog and I just started reading. I'm not done yet (only read two posts), but I want you to know that I am thinking and praying for your family. I will share with the people at STM so that you know you guys have our love and support.

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  8. wow. reading about your daughter is like reading about my own. the delay in walking, loud breathing, runny nose, seizure like activity. we just turned in a urine sample for our daughter (lexi, our youngest, 3 yrs) on jan 6th, results came back high for mucopolycsaccharides so the neurologist ordered another round. once again her level came back high (19.8). we have 3 biological children and our youngest (lexi) we adopted. the neurologist has now referred us to a metabolic disorder doctor and suspects that she has san filippo syndrome. i'm not sure how i found your blog...google or facebook...but i am searching for information hoping and praying that the neurologist is wrong. although i have a pit in my stomach and am afraid he is right. thank you for sharing your story.

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