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.