Hospital

I sit at Ava's bedside, speechless. I don't even know what to write.

This weekend I went back to work. This went OK for me. I wasn't very busy, but got to enjoy the support of my co-workers. That was just so refreshing. So appreciated. So needed. I do work with a great bunch of people.

I did notice that Ava had some labored breathing, but didn't fully process it right away. When I got home Sunday night, I checked on her. I noticed that she was working to breath in her deep sleep. I prayed for her and fell asleep while doing it. This morning I knew that she wasn't acting right. I didn't like her breathing and felt like her heart was racing as well. I took the birthday girls, cupcakes, take home Ted E. Bear and letter "F" show and tell to school. Ava stayed home with Elaina and our sitter (who is really more like family). After Birthday Hugs I drove home and just knew that Ava needed medical attention. However, I was not worried about her, yet. Megan told me that she noticed her chest. I said I know before she finished her sentence and told her that I was going to take her to the doctor today. I also notified our genetic counselor that Ava was sick and any information from Baylor would help us in determining how to treat Ava. (hint hint could she call to see if anything miraculously came back....)

I actually got an appointment on a Monday during flu and RSV season. So I guess there's a miracle in that. Ava's oxygen level was sub par, but she didn't remotely look that bad. I think it's because she's tougher than she looks. She perked up with oxygen support. Our pediatrician and I talked about admitting her. I told him that Allan and I were trying to decide which hospital to take her to before he came in the room. He was so compassionate and supportive. I was just devastated that it was TODAY that Ava got sick. It's the girls 5Th birthday and I really just wanted to make it special for them and with them. He told me to just go home see the girls, get Allan and then get to the hospital.

So we did just that. We opened presents, sang Happy Birthday, took some pictures. We had each of our girls hold their baby. Took pictures of that too. Just before Emily and Alexa opened their "big " gift we got a call from our genetic counselor at CHOP. I told her what was going on. She told me that Ava's POLG1 gene sequencing came back with no mutation! I was really happy about that. All KNOWN genes that cause mitochondrial depletion syndrome have been tested in Ava and there are no mutations. This was exciting until I found out that there are no so called spelling errors on the genes, but we don't know if there are pieces of the genes that are missing. ( This is called deletion). If you need 8 pieces of a gene for it to function appropriately and you only have 6 you could have disease.

This test is a new test. It is the mito-meta array. It is 2 weeks out from being completed. (Anyone want to pray for supernatural timing and to speed up that process????) We still have no time frame on Eric's DNA. So it will be awhile before we know if we can know what is wrong with Ava and what happened to Eric. We also are very aware that our kids just may have a mutation on a non-discovered gene.

I shared the news with Allan. It was time to open up the final gifts. "Big Girl" dolls- Liberty and Jubilee from Family Vision Forum. Oh the joy on their faces. Final kisses for Ava and off we went.

Ava had a work up for an infection. It doesn't seem too remarkable, but it seems she is fighting something. As the pediatrician at the hospital said- Ava seems to have a cold but since she has no reserve she got herself into a crisis. - No reserve is that she is not gaining weight as she should. She started to do better, but now she got sick and is set back. When Eric presented to the hospital we hoped he was ill, but it was the progression of the disease.

This information is encouraging in supporting the preemie feeding issue. BUT her tone is worse than last Thursday (my assessment and confirmed by our Neurologist) and her lactic acid level is elevated. This was an initial finding in Eric. Coupled with the hearing loss, the assumption is made that Ava in fact has a underlying mitochondrial disease. We will only know with time and more results (hopefully).

The plan is that we get Ava over this hump, if she can. She is being tube fed and will get a bottle when we feel she's ready. We are giving her mega expensive formula in her NG tube to try and grow her and make her stronger. We are giving her oxygen to ease her breathing. We will hopefully be able to turn her around and bring her home. But we are making plans if that can't be.

Allan and I are just mad right now. At a lot of things. I am really mad that we couldn't be with our girls on their birthday. We are so grateful to both sets of our parents who had a birthday dinner with our children and made it special. As we left I was crying. Emily and Alexa looked concerned/worried. (Elaina was off with one arm out of her shirt trying to get away from Gaston or the Beast you never can tell). I told them that I was crying not because Ava had to go to the hospital, but because I just didn't want to leave them. My sweet Emmy rubbed her hand on my face and gave me such a grown up hug. She whispered in my ear, "It's OK Mommy."

I know that God is holding all of us in the Palm of His hand. I see how He is doing it in some ways. But we are weary. We don't want to deal with this. We are tired of fighting. We are tired of not knowing. We just want to keep our baby and have only her ears be affected! She is so precious and sweet. She was such a surprise and we don't want to give her up or have her severely compromised. We worry about that. Ava woke up and played with the toy Allan had for her. She was loving it and was reaching trying to get it. I remember Eric doing that early on in his admission too. It is sweet.

We will deal with this. We will try and fight. We sure wish we could know something. But like I told the geneticists 6 years ago - We are trying to quantify the unquantifiable. There just needs to be room for God in genetics. But we have to walk this path. We have no idea why, but we were called to it. So we do it. Knowing that He is lighting our way and guiding our steps. And He knows that we are mad. But He loves us anyway.