Thursday, May 17, 2012

Our Little Logan: Diagnosis

We got results yesterday from the DNA test we’ve been waiting on. Unfortunately, our fears were confirmed. Logan has a condition known as Alpers Syndrome. This is what our doctors had tried to prepare us for, so we were not completely shocked or surprised at this news.
Here is the brief rundown about what Alpers is and how it occurs from www.alpersawareness.org, a website we’ve found to be very helpful…

Alpers Syndrome is an inherited genetic illness that affects the production of energy on a cellular level. Alpers is one of many mitochondrial illnesses and can be diagnosed with a DNA test of the POLG gene. Parents of children with Alpers do not develop the illness because they carry a dominant, healthy POLG gene. However, they also possess a mutation of the gene which can be unknowingly passed on to their child. Alpers occurs only in children who receive the recessive gene from both parents. For parents who both have the recessive gene, there is a 1 in 4 chance of a child having Alpers. Sadly, there is currently no treatment or cure. Alpers has a frequency of about 1 in every 50,000 live births. As many as 1 in 110 individuals may be carriers of the Alpers gene. Many affected children die before an accurate diagnosis is made, so the true frequency remains an estimate.

There are 3 classic symptoms:
·         Seizures that are very difficult to treat
·         Loss of developmental milestones
·         Liver disease

Children develop normally for a period of time with 80% developing symptoms within the first two years of life. Although liver disease is often unnoticeable in the early stages of the disease, it may appear at any time as acute liver failure. During the course of the illness, the amount of mitochondrial DNA in the cell (its “powerhouse”) falls below a critical threshold of about 35% of normal. When this happens the mitochondria become sick and begin to misfire, severely affecting the body’s organ systems by denying them the energy needed to function properly. This leads to mental deterioration and liver failure. 

Since this is a degenerative condition and transplant is not an option, our biggest concern is Logan’s liver and how it is functioning. We will be following up with the Pediatric Gastroenterologist that saw Logan in the hospital to closely monitor his liver function. This should give us a better idea of prognosis and how much more time we might expect to have with our sweet boy. We will also meet with a Geneticist to go through some genetic counseling and to do some tests on Griffin, Jeff and me.

From a treatment standpoint, we are still working to find the best combinations of medications to control the seizures, while minimizing the vomiting and upset stomach he’s been struggling with. Since his intake of food and fluid is continually decreasing (and it’s easy to understand why, given the previous statement), we are looking into having a feeding port put in. This way we will know he is getting the nutrition and calories he needs, and his quality of life will improve if we don’t have to continue torturing the poor thing with medications that make him sick.

In the meantime, we are doing everything we can to stay positive and enjoy the time we have together. There are so many little blessings we have experienced on this journey, and our mission is to focus on those. While it’s not always easy, I refuse to waste any time or energy on being sad and depressed. God has given me an unexplainable peace about our situation. He has provided a comfort for me that has allowed me not to wonder why or question Him. Don’t get me wrong… this sucks, and I wish more than anything that He would take it away, because I know He can. But he may not, and somehow I’m ok with that. We will make it through this, like many families have before us. We will come out better for it, too. I know my sweet boy was not created for this world. He came into it to bring great joy to me, his dad, his brother and anyone else he came in contact with, and, I believe, to allow us to witness to others that God’s plan is bigger than any of us.

We are so thankful for every prayer, text, card, Facebook message, prayer list, meal and kind thought from all of you. I’ve said it before, but the community around us has been the most powerful thing I have ever witnessed. We are strengthened daily by you all and will never be able to say thank you enough.

We hated to use such an impersonal means of communication to spread such heavy news, but sharing the whole story over and over would be too time-consuming and emotionally draining. Please don’t hesitate to reach out if you have questions or thoughts that I didn’t cover here. We are more than happy to talk about it and answer any questions.

All our love…
Karlee, Jeff, Griffin and our little Logan

21 comments:

  1. I am in awe of your peace, strength, courage and faith. Prayers with you, always.

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  2. Thank you for sharing this journey with us so that we may serve as your prayer warriors. You strength and unwavering faith are truly an inspiration.

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  3. Karlee, your reflection of God's grace is quite stunning. Your Nanna is smiling at your ability to stand with faith through this storm. She was so sweet to me through our storm. Thank you for writing this for us, I am sure it was not easy, it is very inspiring and authentic. That helps us. Praying through for you and your family.

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    1. Thank you Joni! I know she's watching us too! I have thought about her so much during this time and the wisdom and comfort I wish she was here to provide. Love to you and your family!

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  4. Karlee, what an amazing person you are! I always new this but reading this post confirms your grace and I honestly don't know if I have even been so inspired by words! I love you and your family And will continue my prayers. I admire you so much! Lindsey

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  5. Karlee

    My heart is breaking for you all! What an amazing and strong momma you are for little Logan! May God continue to surround you with peace as you go through this journey! Much love to all of you! Hugs, Jamie

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    1. Thanks Jamie! Hugs back to you, Steven and Ellie!

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  6. Jamie, I dont know you but have been following your story through Lauren's updates. I am heartbroken for you and absolutely in awe over you. To handle this situation in a way that serves as an example to others when we are faced with situations beyond our understanding is a gift to everyone who reads this and doing so shows strength most will never know. Sending the strongest healing thoughts to you and your family.

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  7. Dear Karlee and all,
    Little Logan has touched so many hearts in so many important ways, I will continue to pray that God will give you added strength, faith, and endurance in the days ahead.
    In His name,
    Judie (Teresa's high school friend from Maryland)

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    1. Thank you so much Judie! We appreciate your kind words and especially your prayers!

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  8. Oh Karlee...I'm thankful for what God has already done for you, and pray for more peace and strength in the days to come. Sweet little Logan! Fear not, for God is with you; be not dismayed, for He is your God; He will strengthen you, He will help you, He will uphold you with His righteous right hand. (from Isaiah 41:10)

    Kara

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  9. Karlee,
    You do not know me but I am in Sunday school with Brian and Lacee and I know your story. What an inspiration you are, thank you for sharing this story about the Grace of God and reminding us that everything he does is for a reason and not to question the gifts he blesses us with, even if those gifts are not on our terms. You helped remind me how thankful I should be for my healthy children. I will continue to pray for your family and that Logan can find some relief from his pain and discomfort.
    Beth Burney

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    1. Thank you Beth. Your words mean a lot and we are so thankful for your prayers.

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  10. Karlee,

    You don't know me either. I write to you from Colorado. I am Veronica's maternal grandmother. I am so very sorry that you have this difficult journey ahead of you. You seem very strong and have what it will take to endure this. May Logan be comfortable and pain free. God bless.
    My thoughts and prayers are with you,
    Peg Bowles

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    1. Thank you so much Peg. Your website dedicated to Veronica has been a wonderful resource, and we have so appreciated the advice and support we've received from your family. I'm not sure how anyone endures such things without faith, and I am so thankful I don't have to.
      Blessings to you and your family!

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  11. Lots and lots of prayers for your family. May god give you peace, strength, clarity and all the joy yall can stand even in the midst of your troubles.

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