Well we're back. Just got into Bend about an hour ago. I know most of you are anxious for the results so I will cut to the chase. The doctor says he is pretty sure that she has Metachromatic Leukodystrophy (MLD) (he is just waiting on the blood test to confirm it). Cerebral Palsy is completely off the table now. Now, what does this mean for Anabelle? Well, this is a progressive issue. Even if it isn't MLD it is most likely something that is similar but also progressive. Progressive meaning it is going to get worse. The white matter in her brain is slowly disappearing causing miscommunication in the nerves. The muscle issues she has are only going to get worse, damage will slowly move into her cognitive function and eventually her brain will no longer tell her organs what to do. At best, we are looking at her living from 5-10 years old. But for the most part the last bit of her life will be sustained by medical intervention. We can only treat the symptoms at this point. The doctor prescribed her some muscle relaxers to help with the spasticity (tightness) and the pain. If it happens to be MLD that means Ronn and I would have to be carriers (it's genetic) and we would have to be recessive carriers; which if you remember anything from biology this is a pretty rare occurrence. If we do move forward with an MLD diagnosis Ronn and I will be doing some genetics testing to figure out what were looking at for future kids or our family members. We should be going back to Doernbecher's in a couple months to see where we go from here. Also we are going to get Anabelle in at Shriner's (because of their orthopaedic expertise) and try to make this descent as easy as possible for her. The best thing we can do now is keep her comfortable and give her the best quality of life.
We thank you all for your thoughts and prayers.
"Consider it pure joy, my brothers, whenever you face trials of many kinds, because you know that the testing of your faith develops perseverance." James 1:2-3
My heart goes out to you Alex! :(
ReplyDeleteDoctors get things wrong all the time, they say someone only has so long. But it's God who decides. Stay strong Alex! Stay strong.
I'm so sorry you have to go through this especially your baby my heart,thoughts,prayers, my everything goes out to you guys. Just take it one day at a time and enjoy every little minute that you can <3
ReplyDeleteI am so sorry to read about this, Alex. Praying for you and your family.
ReplyDeleteShannon
You and your family are in my prayers ♥
ReplyDeleteI am so sorry you guys. I know God knows what He's doing, but I don't like it :-(
ReplyDeleteSo very sorry to hear about poor Anabelle. She and your family are in my prayers. It never seems fair for things like this to happen to the little ones...
ReplyDeleteThank you for your blog. Hopefully, it is therapeutic for you.
I love you and Ronn (and Anabelle too, of course). James' advice is worthy, but as we discussed yesterday, don't beat yourselves up if you're not there yet. My shoulder has room for a good cry as often as either of you need it. I'm praying God's perfect peace and immediate presence in your lives.
ReplyDeleteWe are so sorry to read this news. I can't imagine the whirlwind you are in right now as you think about now and the future, not only for Annabelle, but for you as a couple, your family, and the life Annabelle will lead. I can't imagine the heartbreak you must be dealing with right now. You are in our thoughts and prayers!
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