LCHAD DISCOVERY

What's wrong with my baby??! She's been not crying, but SCREAMING all day and all last night, she's barely eaten anything and now she keeps crossing her eyes really far and I'm getting pretty freaked out! What's wrong with her?

I took the baby to the hospital, they ordered stomach x-rays to look for some kind of kink in her stomach to explain why she hasn't been eating the past two days.

They checked her blood sugar to find it at 39, where 60 is "critical/life threatening." She was also found to be extremely dehydrated. They gave her a glucose shot hoping to bring it up but it dropped further, down to 31. They tried three times to get an IV on her without success,and gave her an oral glucose gel on the way to Cincinnati Children's Hospital.

There they checked her sugar again, it had come up to 40. They rushed her to the trauma room, where they stuck her literally around 15 times trying to get that IV, even after calling "vascular access experts."

They were about to shave her hair and try to put one in her head, but some kind of surgeon came down and finally got an IV started in her neck.

They pumped all kinds of fluids and antibiotics, they took 6 or 7 containers of blood from her femoral artery, did a spinal tap.

I'm exhausted from crying so hard, but she's finally bundled up, sleeping in my arms as we wait for results. They're not talking pink eye. They've suggested blood infections, meningitis, LCHAD, and all sorts of awful possibilities.

One after another, test results are coming back negative, normal, etc. No clues yet as to what's bothering my poor darling.

They have discovered an enlarged liver, though, which they said can be indicative of genetic abnormalities (LCHAD) so they're calling a team of geneticists to try and help.

Sigh. At least she seems in relatively good spirits, all things considered :(

I'm trying so hard to take good care of my baby. Despite everything that's happened, she seems to be returning to her cute, jolly little self. She still hasn't eaten hardly anything for three days now, but tonight her appetite seemed to slowly start picking back up. She was actually eating :) that's a good sign!

The geneticists at Children's have decided that the baby for sure has LCHAD, and are just waiting on labs to confirm it on paper. 

They are really wanting to get her off of her IV fluids probably tomorrow. They recommended that instead of breast milk, which has lots of the long-chain fats that her body can't break down, that I start exclusively feeding her a very specific kind of formula which has very few long-chain fats and lots of medium-chain fats, which will help her process her nutrients better and give her extra energy which she needs. I'm extremely sad about not being able to breastfeed her anymore, but I want whatever is the healthiest for her.

They also discovered that her heart and liver are enlarged, but functioning well. Blood tests revealed that she is low on many electrolytes, so they're giving her magnesium and potassium supplements orally and through her picc line. It also turns out that she's anemic, which could possibly explain why she stopped eating. The hemotologist ordered a blood transfusion for her this evening, which should theoretically to wonders for her.

Otherwise, her sugars are stable, so they've decided to stop doing the routine heel sticks, and reduced the renal panels to every 12 hours instead of every 8. So basically, no more getting stuck! 

Hopefully this specialized formula, blood transfusions and electrolyte supplements will fix her up quickly and she'll be feeling better in no time.

They just inserted a nasogastric feeding tube, now we will be able to get some food in her little belly. Four days of eating almost nothing is far too much. With her new formula and electrolyte supplements going into her system, in addition to the blood transfusions they'll be starting, I am hopeful that she'll be feeling better relatively soon.

My morning started with me waking up at 6am due to Lisbeth screaming. Two vascular access nurses were reaching into her bed so I jumped up and went to her to find them with a tourniquet around her arm about to stick her to take blood. I was furious. I have expressly said that if they want to do ANYTHING they better make sure I'm there and awake. I raged at them, the regular nurse, the team of doctors and made it very clear that that was unacceptable. I must have made myself clear becos Lisbeth's current nurse insisted on strapping her to a backboard to keep her from moving her arm and occluding the IV infusion, but when Katrina Strange told her she'd better wake me up and clear it with me first, she decided she didn't really need the backboard after all.

Also, Lisbeth's picc line clogged so they had to try to flush it out, but they may not be able to draw blood from it anymore. If that's the case, she will have to have a new line put in or be stuck every time they need blood work, which I refuse to allow. The problem with the picc lines is that her veins are just so small, they can't fit a catheter in that is certainly big enough to easily draw blood from. They will have to come up with something quickly.

As far as blood goes, the transfusion helped immensely. Her levels are back up to normal, so she is not considered to be anemic at the moment. However, the hemotologists discovered that the reason for her anemia in the first place is that she has a condition called xerocytosis, which is dehydrated red blood cells. The dehydrated cells are more prone to bursting, causing low red blood cell count (anemia). However, they can't be sure just yet whether the xerocytosis is due to the LCHAD, or if it's a separate issue.

There is also an issue with the alkaline phosphatase level in her body being inexplicably elevated, so the endocrinologists are running some tests to see if the problem could be coming from her liver or her bones.

She still isn't eating, which was the initial reason we came to the hospital. She keeps vomiting her formula, so they have put her on a pump that will slowly pump food for her over a two hour period. Each time, she seems to vomit a bit less, so hopefully we can make some progress in this aspect soon.

After dealing with some unbelievable ignorance from a certain person on Facebook today, I do have a few small but bittersweet updates to report.

Lisbeth has now been disconnected from her IV fluids, her heart monitor, and her pulse ox. The only thing she remains hooked up to is the pump that feeds her, which is for two out of every three hours.

She had been throwing up a little less each feed, until this morning when for some reason she vomited half of her breakfast. On the bright side, though, she did actually drink from a bottle for about two or three minutes, which is a huge improvement. Now if she can just keep at it.

The doctors need a bunch of labs tonight, but then said they are going to try to reduce her blood draws to once a day. However, there is still a big access problem. Her picc line is a 1.9f picc, which means it is extremely tiny, so tiny that you can't really even see the hole that the fluid moves through. For some reason, they can no longer draw blood from it. The vascular access team has decided that her veins are all too small to place a larger picc, so they need to come up with a way to draw blood several times without sticking her over and over.

Also, when Lisbeth was born they did a routine newborn screen that said she might have LCHAD, but I just now got a paper in the mail saying that when she was just 9 days old they confirmed a fatty acid oxidation disorder (LCHAD). So I'm pretty upset that they knew this whole time that something was wrong and didn't even notify me for three months.

Otherwise, Lisbeth seems to be feeling much better so far this morning, aside from having thrown up. She's alert, curious, watching people. Every time she looks at me, I try to smile at her. Even though I am fighting hard not to break down into hysterics, I want her to see me smile and try to understand that everything is going to be ok. I think it will still be a while before we can go home... :(

One of Lisbeth's doctor's said that the instance of carriers for these autosomal recessive disorders is extremely low. So low, in fact, that the chance that her father and I are "distantly related is very, very high." I'm like, lol, it's impossible, trust me. We're Croatian and he's Native American. Not possible.

Sigh. These days in the hospital are becoming uneventful, which really is harder to deal with than major issues every day.

Lisbeth still won't eat, so they've slowed down her food pump to continuously deliver formula, 24 hours a day.

The IV that they gave her to try to draw blood from isn't drawing anymore, so they're going to have to stick her again.

I met with the hepatology team today, they are asking for an ultrasound of her liver. They are trying to find out why her "alk-phos" levels are elevated. They said that she may also have some fat deposits on her liver, which is what happens when people with LCHAD eat the long-chain fats that their bodies cannot process (apparently breast milk is high in long-chain fats). They did say, however, that as she eats a specialized, low fat diet, it should return to normal.

On top of all of her other problems, poor Lisbeth has developed a horrible diaper rash. It is so bad that it was bleeding a tiny bit yesterday, and she screams during every change, even though we're being absolutely as gentle as possible.

The doctors said that to hope to be going home by this weekend would be pretty optimistic. :(

Oh thank God. They were able to get her IV working again so they didn't have to stick Lisbeth this morning.

Baby got an abdominal ultrasound. The sonographer said everything looks good but haven't talked the results over with her doctors.

UPDATE: Lisbeth is starting to eat again, her blood looks excellent after yesterday's transfusion, and if she keeps on keeping on, they're talking about trying to get us out of here by Friday!!

I'm getting very mentally exhausted by this entire ordeal, so I'm not really sure where to start.

A few small updates, Lisbeth's acetylcarnatine profile should be back this morning, the test which confirms LCHAD on paper. They're increasing the speed at which Lisbeth's pump feeds her, as well as trying to get her to take 5mLs of formula from a bottle twice a day. She only took one bottle today, but the second time we had woken her up from a nap and she was pretty grumpy.

They told me (I think) yesterday morning that her red blood cell count had dropped dramatically again and that she needed another blood transfusion, so they did that yesterday. This (wed) morning they told me that the transfusion had again made an immense difference for her, and that if her levels stayed up, that we could likely go home on Friday. If something were to happen though, they will not hesitate to keep us longer.

A wound care team came to take a look at Lisbeth's diaper rash becos it was so severe. They gave me special medicated baby wipes to use, some kind of powder to put on her, then a "New-Skin" type spray to go on top of that, and finally a thick diaper rash lotion at the end. It sounds excessive, but her poor peaches were deep red and bleeding, and she would scream at every change. I could tell when she needed a clean diaper becos she would instantly start screaming as soon as anything touched her little booty. Now, it is significantly improved, she doesn't cry when I change her anymore, and I expect that by this time tomorrow it will be completely resolved, or close to it.

On the topic of going home, we have so much to do. They will be sending her home with the NG tube, so I have to learn how to replace it in the event that she pulls it out. I have to learn how to operate her feeding pump, and when to feed her and when to stop it, as they've got her on a strict schedule right now. I have to learn how to make her formula, but that will be a cakewalk compared to everything else.

The geneticist, Dr. Burrow, will be Lisbeth's primary geneticist. He will supervise her care for years, as will Ms. Kim Page, the metabolic dietician. Kim has written out some instructions to help me, and brought me a diaper bag with several little goodies inside. They really are trying their best to help. 

As I'm writing this I have to keep stopping to take care of Lisbeth, she keeps rubbing her nose and eyes like they're itching. That makes me pretty nervous becos she could pull her NG tube out, or she might be coming down with something. God, I sure hope not.

We're almost there. The doctors have all agreed that we can go home tomorrow, I just have to complete certain training classes and get a few things set up first.

I had to pull out Lisbeth's NG tube and put in a new one so that I would know how to do it in the event that she pulls it out. I fought so hard not to break down, she was crying so hard. Not becos it hurt, apparently it just feels weird going down and she was so angry :(

They're getting ready to take her picc line out in a bit, so that will be good. They prolly won't take the IV out until right before we leave though.

The doctors said all of her levels look great today. The acetylcarnatine profile came back, confirming that she for sure has either LCHAD or trifunctional protein deficiency, though apparently it doesn't matter which one it is becos the treatment is exactly the same and the test showing which one won't be back for around two months.

I am really happy about getting out of here, but for some reason I'm very depressed right now. Prolly becos I know I did something on purpose that upset her so much and she was staring at me the whole time like "how could you do this to me!? I trusted you!" :(

Yep, I feel horrible. Lisbeth was so happy this morning and now she's just crying her eyes out and having a terrible day.

I had to tape kitty cat socks on her hands cos she already pulled the NG tube halfway out and I had to push it back in. My poor baby, she's having such a hard day :(

Lisbeth has been up goofing off all night, so I turned on Aladdin for her to watch. It's the first time I've ever put on a movie for her, and she was out like a light before the end of the opening credits.

I'm getting quite frustrated. Everyone was getting us all hyped up that we were going home today, but this morning they said we would have to wait until Tuesday.

The reason is not becos of anything Lisbeth or I did. She is well enough to go home. However, I can't get home until my car gets fixed and my broken tooth pulled, so we will have to go to KY for a little bit until that happens. The problem is that they insist that we get home nursing, but KY nurses can't Bill OH Caresource, and OH nurses can't work across state lines. Supposedly. This makes me so frustrated cos sitting here for five more days isn't going to change the fact that we can't go home without going to KY first.

So now they've got a home nurse from the hospital up here teaching me how to set up and operate her food pump and getting the supplies ready to go home tomorrow. First they said they were going to switch her to a different formula, but now they're keeping her on the Lipistart? 

It seems like a huge tangled mess to me, but as I understand it, we are going home tomorrow.

OMG I just want to scream. Now people are coming in telling me it's impossible to go home tomorrow, and we have to stay til Tuesday and the only way that will work is if we go home to Dayton. What part of I CANT DO THAT don't these people understand? Its becoming very difficult to keep my cool around all this miscommunication and bullshit red tape. Just let us walk out the door and forget about it!

I don't even know what to say. Now apparently they've all collaborated and we're going home today. I want to be happy but I'm too convinced that someone will come in ten mins from now and tell me we have to stay. I'm unbelievably frustrated and even more stressed out than before.

Just signed Lisbeth's release papers!!! All packed up and ready to go, just waiting on transport. Actually, they just walked in! :D

Finally home! I am so incredibly relieved. I really want to take a minute and say thank you to everyone who prayed for us, wished us well, shared or liked our statuses and followed my posts the past two weeks. I am so grateful <3