The Scary Truth.

This morning we had Mikah's appointment with a genetic specialist. And we learned a lot about what is going on with our sweet little guy, but it was all very scary and overwhelming, to be honest.

The test that Dr. Jacobson ran on Mikah showed that he as a disorder called Glutaric Acidemia Type I. (GA1)

All proteins are made up of amino acids. And our body uses enzymes to break down these amino acids, and turn them into energy. But Mikah is missing certain enzymes, which means that his body just stores up these proteins that he can't break down, and they turn into toxins inside of his body.

The proteins that Mikah can't have are called Lysine, Hydroxylysine, and Tryptophan. (Lysine and tryptophan)

Both of these proteins are in the formula that both Mikah and Khoen were on since birth, which was Enfacare 22, the formula often used for preemies. So since birth, he has been storing up these proteins, and they have been, in a sense, poisoning his little body.

First we had to see a genetic counselor, and go through mine and Dustin's entire family histories. We talked about Mikah, and how his development has been, and about Khoen, and what happened with him.

Then we had to see the doctor. She is an amazing lady, and I feel like Mikah is in really good hands. She ordered another screen to be done just to confirm that this is truly what Mikah has, because it isn't extremely common. Only 1 in every 30,000-40,000 babies are diagnosed.

She examined Mikah, and looked at his development from what she could tell. She was mostly pleased with it, and said he is almost to where he should be, just to keep working with him daily...which I always do.

They taped a little bag around his private parts to catch his urine, so that they could run tests on it. But of course my little stinker figured out a way to pee right out of it and into his diaper, so it had to be completely re-done. And for the record, when a baby pees, it takes a while for him to pee again...

After that, we had to take him down to the lab for more bloodwork. They took 7 vials of blood from my little man. I know that may not seem like much, but it sure looked like a lot to me, complared to how little he is!

And our appointment still wasn't over. We had to talk to the dietician next, because they changed his diet TODAY. He is now on a formula called Glutarex, which she warned would be hard to get him to drink. And if you look online from the company (since glutarex can't be bought in grocery stores), it costs $224 per CAN. A can will last you 4 days on his diet, just to show how expensive this would be.

Fortunately, the dietician said that they always go through WIC to get this formula, so we won't have to pay for it. What a blessing, and a relief!

Anyways, this glutarex doesn't have either of the two proteins that he can't break down. But, we have a strict recipe to follow, because we do still have to mix in a small amount of his old formula. Not enough to hurt him, but enough so that he is getting all of the nutrition that he needs.

He can eat the baby cereals, fruits, and some vegetables, but all only in moderation. (I now have a chart hanging on my fridge.) But he CAN'T have anything that contains milk, cheese, eggs, or meat right now. Not to big of a deal, as he is still so little.

The doctor said that by staying on the diets given to us, and being VERY strict about it, Mikah should be able to relax a little on his eating by the time he is 7. But he won't even be able to try chocolate until then. :(

And for the record, at 1:30pm he FINALLY peed in his bag, so that we could go home...3 and a half hours after the appointment started!

The risks of GA1 are what is so scary. Had we not caught this, Mikah could have suffered a "metabolic crisis." And in people with this disorder, that can cause strokes, comas, permanent brain damage, and death.

Brain damage is the biggest concern with GA1. And even while he is on treatment, he has a 35% chance of suffering brain damage of some kind, from moderate to severe. THAT is terrifying. :(

But we have no choice but to be thankful at this moment. I wish we had caught all of this before Khoen had to suffer from it, but Mikah is here, and he is ok right now. And he is on his diet, and we are going to do all we can for him, to give him a normal happy life.

The dietician said that we can wean Mikah onto his new formula, but to do it as quickly as possible. She said to start with 1oz of glutarex, and 4oz of enfacare. So that is what we did for his 9pm feeding.

The other thing that makes all of this so scary is that if Mikah were to get sick, it could very quickly put him into a metabolic coma. And even if he were to come out of his, he would have severe permanent brain damage from it.

The main thing we have to watch out for is the stomach virus. Mikah can't tolerate throwing up. If he gets a cold and has a fever, as long as he is still eating well he should be fine, and get through it. But if he starts throwing up, we have to take him straight to the hospital.

We were even given a note that we have to carry everywhere. We literally have to keep it with us at all times. And if anyone watches Mikah for any period of time, no matter how short, they have to have a copy of it. And if he shows any sign of illness he has to be taken straight to the ER at Levine, and the note must be given directly to the staff.

The note states that Mikah has GA1, and that he is extremely high risk. It says that if he shows any signs of being ill ie. throwing up, lethargy, fever, loss of apetite, dehydration, pretty much anything where he may not be getting proper nutrition, he is to be admitted into Levine Children's Hospital, immediately hooked up to IV's and given fluids, sugar, and nutrition, and observed. They are also to call in the genetic specialists there at Levine, and if for any reason they are unavailable at the time, they are to contact the hospital at Duke.

My nerves are on edge, though, because Makenna is in preschool. And we all know how germs fly around those classrooms. My main concern is that she will bring home a stomach bug, because that is the thing that Mikah can NOT tolerate. And it terrifies me to think of him throwing up and possible going into a coma, and never having a normal life because of it.

The genetic specialist said that they have two other patients that have this disorder. One is a baby, whose disorder was picked up on his newborn screen and has been on his special diet since birth. And he is doing well, and hasn't had any issues.

The other is an 8 year old little girl who, at the age of two, caught the stomach flu. She went into this metabolic coma they have warned me about, and woke up, but is severely brain damaged. :(

So in all seriousness, as much as we love you....if you are sick, or have been sick, or just aren't feeling well, please don't come by to visit! Haha :)

I'm trying to just stay as positive as I can, but the doctors have fairly warned me that this is serious, and his dangers are real. So we have to be very strict, and he absolutely has to eat every 4 hours. No more sleeping through the night until who knows when!

But still, as I sit here with knots in my stomach, I know that I am about to go upstairs and just fully turn this over to God. He will take care of Mikah, and of us as his parents, and guide us on what we should do.

This is going to be a long journey for him, and something that will have to be watched closely all of his life. So please continue to keep him in your prayers.

We need Mikah here, and we need Mikah strong. And he is going to push through this!

And pray extra hard for a miracle....that his test they did today to confirm and further test which genes of his are mutated and caused this disorder comes back and says that he is fine, and it was all just a scare.

Doubtful, yes I know....but a girl can dream, and God is amazing. <3

ALSO, they confirmed for me that the state keeps babies new born screening tests for three years after birth. So, if their test does confirm what they believe to be true, they will call the state and ask that Khoen's newborn screen be run again, to ensure he did in fact have this disorder as well. If he did, his cause of death will be contributed to this.

And I know I wrote in another blog about how when Khoen was in the hospital, we considered transferring him over to Levine's. (Maybe I didn't, I dont remember, but either way, I'm telling you now. We considered it.)

We only considered this because after they did a spinal tap on Khoen, they didn't really do anything else. They just didn't really give us any reason as to why my son didn't wake up for almost 3 days, and we weren't happy about that.

The specialist today told me that they indeed should have done further testing, and considered something neurological. Had he been at Levine, the neurology team would have probably been called in, and we may have been able to catch it in time.

I know I can't dwell on the woulda-shoulda-coulda's, but its hard...it hits me in the gut, because I really cried over that while we were in the hospital. But we prayed about it, and talked about it, and decided we should leave him where he was. We figured they were the doctors, and they knew best.

But the thought that maybe I could have done something more to save him hurts my heart so much, because once again, I feel like I failed Khoen. And I would have done anything for that little boy, just as I would Mikah, Kaisyn, or Makenna.

Please pray for strength for our family as we get through this. We love you all, and can't thank you enough for thinking of Mikah on his big day. <3