On Friday July 6th I got a phone call that will forever change my life. The last test that was done on Asher the 2nd time we were at the hospital came back. It was a test the geneticist (from the same office who did the evaluation on Eli) had sent off to Denver, Colorado. The only thing that we were told about the test at the time was that it was really obscure and it most likely wouldn't show anything. We weren't concerned about it at all. Every other test had come back fine, so we had no reason to believe that this one would be any different. But the voice on the other end of the phone that day was saying things to me that I couldn't even fathom at the time. She was telling me a test came back positive. That Asher had something called glutaric acidemia type 1. I couldn't even process it. I had her spell it. I wrote it down and asked the only questions I could come up with at the time. I got a very basic explanation of it at the time. The next few days were like a world wind of worry and tears.
Basically in a nutshell people with GA-1 have trouble breaking down proteins. The proteins can build up in their systems causing very harmful damage. We read a lot of scary stuff about it on the internet. We made a pretty much unnecessary trip to the hospital out of fear. Our world was turned upside down. It wasn't until this past Thursday that we actually had our appointment at the geneticist and got some answers. They told us they now know that this condition is what happened to Eli. This was absolutely the most terrifying news I have ever heard in my life. The thought that this could happen again is my worst nightmare. It wasn't all bad news though. I actually felt a lot better after we left our appointment. When we first heard the news that Friday I pretty much felt like it was a death sentence. This is not the case. I will try to give you as much detail as possible with out boring you with a bunch of medical terms.
It is a genetic condition caused by a recessive trait that both Richie and I are a carrier of. It is really rare for 2 people to get together that are a carrier for the same thing like this. What happened to Eli was the most extreme case. They have actually never seen it happen in utero. The bleeding in Eli's brain and the damage to his liver was already starting before he was born. Normally it takes much longer for the proteins to build up and cause any damage. Kids usually start showing signs by the time they are 3 months old. Then, it is so rare ( 1 in 100,000) that they don't figure out what it is until much later down the road, like when they are 1 or 2. By that point there can be much damage that is irreversible. However 10% of people who have it never even show ANY symptoms and don't find out until they have a sibling that has something happen.
Both Eli and Asher were screened for this at their newborn screen. That fact really shocked me. Why wasn't it found? Well I am told it is a very broad test that is designed to pick up any organic acid disorder. Some kids are what they call low excreters, which means they don't excrete enough of the glutaric acid to be picked up by the general test. The test that the Dr. ordered that found it was a test specific to this disorder. He had to know exactly what to look for. I can't tell you how thankful I am to him. If it wasn't for him finding it early Asher might have suffered much damage before it was found. It is a very good thing that we found it early. It is more manageable than I originally thought, and than it sounds. It is actually treated mostly with diet and vitamins. Asher is now on a combination of breast milk, regular formula and a very specialized formula just for his condition that is protein free. His diet will mostly, at least in his childhood, be protein free. This means no meat, dairy, rice, peanut butter, eggs, etc. He will have to have some protein to grow, so he will have very limited amounts of those things. That is why he still gets a little breast milk and regular formula now.
The biggest danger to him now is if he gets sick. This too is manageable, but we have to be very cautious and proactive. Kids with this condition can easily have a metabolic crisis if they are sick and aren't eating well. Therefore they have to be hospitalized to get fluids if they aren't eating well. We have a protocol sheet we take to the hospital outlining exactly what to do. It is during a metabolic crisis that the bad things can happen. Brain bleeds is the scariest. But with all that said, if we are on top of things, and treating it with his diet, the risk of those things happening goes way down.
His Dr. for this will be the geneticists. He will only see a pediatrician for vaccinations. There are no specialists in this because it is so rare.
If you are thinking wow this is a lot to take in, you are in the same boat as me. I don't know everything about it yet. I have to say I was, and still am overwhelmed by it all. I was completely devastated. I don't have all the answers. I have a lot more questions than answers right now. I don't have a clue what God's plan could be through all of this. I have went through many emotions during all this. Through all of the anger, pain and questions I have a few things that I cling to that get me through each day. First, I have learned that I have to take it one day at a time. Everyday I ask God to give me the strength to get through the day. Just 24 hours, that's it. When I look at the big picture, and the unknown future it is too much to handle and too scary. So I take it one day at a time and go from there. So far God hasn't let me down, and even on the really tough days, we have made it. Second, I know no matter what God won't leave us. He has been by our side all the way through everything we have been through. I know He loves us, and I trust Him. This hasn't always been easy, but it's all there is. If I didn't have that I couldn't make it through. Third, I am so thankful and happy to have my little boy. I will cherish every single moment with him, just as I have with my other sons. He is beautiful and fat and happy. He already weighs 10lbs and 12oz!!
I will update everyone more as we go. For right now we are just adjusting to our new normal. We are waiting for Asher's DNA test to come back. Hopefully they find which jean has the abnormality and then they can test other family members. It is unlikely that Grant would have it since he hasn't shown any symptoms, but they will test him just to see, and find out if he is a carrier. Our brothers and sisters will also have the option of getting tested.
I don't always have the best insights, but the goal here is just to share my heart and be honest. Also I believe in the power of prayer. If you would, please pray for Asher. I have faith that he is going to be just fine. Richie and I also need prayer for strength and faith. As always thanks again for reading and caring about our family. Thanks for supporting us.
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