Results

Well here we are about 3 and a half weeks after Laura’s test was taken. About 3 weeks before we were supposed to get results and we have results. Laura tested positive for Angleman Syndrome. It’s a rare genetic disorder happens about 1 in every 15,000 to 20,000 births. It’s not usually inherited but it’s still possible she inherited it and we have some more testing to do most likely. Homburg University wants to use Laura as a case study as they have never had a case of Angleman come through their hospital. That’s how rare it is. Our developmental Dr said he had never seen this before. But he sure is surprising me with how he has been handling this case and working with us. I can’t begin to state how blessed we are with the care we  have here. From Laura’s regular pediatrician to her developmental dr. Her PT, OT and ST are all amazing, I’m not sure where we’d be without them and I’m glad I don’t have to envision that world.

When Laura was born I just couldn’t believe how beautiful she was. Shortly after giving birth our doula left then Allen left to go get Charlie and his parents to come visit with her. During this window of being alone with Laura the pediatrician on call came in and talked with me. Apparently Laura had a small heart murmur. I remember being petrified. For those of you that don’t know my youngest sister had VSD and had open heart surgery at 11 months old. Flashbacks of seeing my little sister laying in recovery. I remember immediately crying seeing her and my mom made me leave so that I wouldn’t upset her while she was recovering. I just started crying and praying in the hospital that the hole would close up and it did within a week. Worry and hormones are NOT a good combination though! God quietly spoke to my heart: for I know the plans I have for you declares the Lord, plans to prosper you and not to harm you plans to give you a hope and a future. Jeremiah 29:11. I didn’t realize how much I’d cling to this verse for Laura.  Laura is an Angel. This won’t stop her. This won’t stop us. Our lives are going to be different than we thought they would be, but that’s not a bad thing. Our life will be filled with Laura’s laughter and smiles. Our life is going to be filled with a lot of challenges and medical frustrations. But God still has a plan for her future. Laura has hope and she has a future through Christ. We are blessed by her life. We are blessed by all of you that have been praying for us. And recently blessed by the AS community that has given me so much information. So many private messages of people who understand this life, who are giving us hope for the things she will accomplish in just one short day. God’s hand is all over this.

 

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3 thoughts on “Results

  1. I am so happy you and Allen decided to share your information. I feel this will allow you more strength to carry on having more support, prayers and love from your wonderful community of friends.
    Yes it will be a long happy, fun, frustrating journey for you all. With each passing day you will find as your life is filled with chaos it will also be filled with the peace of knowing what direction you need to follow for our little angel.

    Sharing Laura for their education to hopefully educate, diagnose and help other families diagnose their children sooner is fantastic. The more educated Dr.’s, hospitals, PT and all involved are, the better the treatment will be available. Laura, you, Allen & Charlie will be proud to know she is part of a very important study that will help so many other children & families. Hopefully bring even more awareness to AS.
    I pray with a selfish heart this will also give her an advantage in the special care and help that my beautiful granddaughter and you all will need.

    Love her with all your heart, laugh, smile and enjoy every precious thing she is going to bring to your family and ours. Walk those streets of unknown direction until you find which way to go. When you have the time get as much information, help, support you can. I know all cases are different But the more you educate yourselves the better questions you will have. I’m glad you found an AS support group that should help so much.

    You all are always on our minds. Sending hope, strength and much love ya’lls way. We miss you all so much. Big hugs.

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  2. Chris and I are praying for Laura and your family!! You are so strong I know you will see the positive in this!! Hang in there!! Xoxo

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