Friday, October 30, 2009

Despite many efforts, no phone call from CHOP. I do think that our genetic counselor must have been out with the Swine Flu, excuse me: H1N1. I know hospitals have strict regulations on how long you have to be out and when you can come back to work. What I am most annoyed about is that there was no follow up or person covering. Ava has a Geneticist that she sees. You would think that she would have been interested in her results and sought them out. Unless, of course, she's that helpless with out her assistant. Which is entirely possible. I did try to call the main number to even see if our counselor was out. They were zero help and not really willing to go the extra mile. While I can be completely understanding, I do think that they will get a piece of my mind about coverage, return calls, the way the department runs etc. If our baby needs something, we need to trust the hands in which we place her.

So we are going into the weekend. I was supposed to have a letter by Tues. stating the plan in case Ava has a change in status and or gets ill. We, of course don't have it. So I pray she stays the same and we don't miss anything. It sure would be nice to know what they consider a reason to take her in. I panicked all weekend last weekend. Decided to take her to the pediatrician and found out the orange in the diaper was chemicals from the diaper. I sure don't want to take her to the hospital and pay all that money for that kind of stuff.

Ava had a weight check on Thurs. She gained 1.1 ounce and grew in length and head circumference. She tolerated fortifying her milk with formula, so we now are adding more formula to the breast milk. She seems to be doing well with it today. She is sleepy, but waking to eat in an appropriate time frame. She is also demanding to be fed and is trying hard to get what she needs. Usually on a sleepy day she is a bit more of a pain to feed. So it's encouraging that she's tired and more interested and better at eating.

Allan took the other three to Fall Festival at church tonight. I just got a call, it was a big hit to usher in the fun-filled Halloween weekend. What was nice is that I also got a bit of a break from all the chaos. It seems that I am always running somewhere or trying to catch up at home. I really loved the chance to be at home with Ava. The girls were so excited to have a "big sister date" with their Daddy.

Also good to note is that the Yankees and Phillies have a travel day today so maybe we can get to bed at a reasonable hour. The series is tied 1-1. So far all is copacetic in the Benton abode. But I have serious doubts about a harmonious home as we get deeper into the series!

Well the chaos just stormed in....

Thursday, October 29, 2009


The girls are running around the house in some sort of crisis. From what I can gather there is a Princess in distress and some sort of Fairy Godmother catastrophe. I on the other had am walking around in circles. I have lots of things I can be doing that would be WAY more productive.

We still have not heard back from CHOP genetics. I do know that they will HAVE to call eventually right? I am suspicious that the genetic counselor is ill. As least that better be her excuse. I just left another message. this time I requested that she at least email me that there are no results to speak of, if that's the case. This way I can stop wondering.

Everyday I feel like I can't carry on anymore. Everyday I do. Time is so very L-O-N-G. I am simply ready to face the next step. I just want a call to say there are no mutations and Allan and I most likely have a premature baby who can't hear. My soul longs for that and for this worry to be released. The Bible tells us not to worry about tomorrow. I am doing my best to not. I actually think that I am succeeding as I never even know what will happen in the second part of my day.

I desire to get back to "normal" and to not have to think so hard. When you loose one child to illness it takes all your fight. To have to wait on a diagnosis for the second you enter the battle with little to no reserve. We carry on as best we can, but we are so very weary. We get out of bed and face the day as best as we can because God is giving His strength to us. But everything is just so heavy. There are many moments of brightness that are like breaths of fresh air. These things push you to the next minute, hour, whatever you need to plod through.

I am sick of scrutinizing my baby and wondering "is it starting?"-the beginning of the end. I am tired of the "if-then" scenarios as we try to plan what the next best step is for Ava. I am plain tired of wondering what we can do to avoid what happened to our son.

We made peace with not "knowing" what happened with Eric. Now we are being forced into investigating that. That is not such a bad thing, if we would have been prepared for what we are finding out. This disease, while not pretty, doesn't necessarily have to be fatal. Unless it's mismanaged. We are finding out that were things that could have been done and or avoided. I don't know how long Eric would have lived if these things were done or avoided. I do know that his system was so insulted that God deemed it fit that he be healed and ushered in to His presence. In my mind that 's not so bad for him. I'm OK with that because it was God's plan. But boy oh boy I was not expecting to find that out almost 6 years later!

My mind and body are weary. But my soul feels vibrant. God is holding us and protecting us. I know He's giving us the courage to walk this path. But it is hard, scary and exhausting.

I am feeling these thoughts and what I am hearing are my three daughters singing, "The old man built his stuff upon the rock!" (Which I am pretty sure is a derivation of "The wise man built his house upon the rock'). They are all dressed up in hats and various dog ear head-bands. And somehow this will help the princess and save the day!

Wednesday, October 28, 2009

Yesterday I felt such peace. It was truly from God. I wasn't even concerned about the impending phone call from the Genetic Counselor from CHOP. But she never called. I left a message. No call.

I spent most of today being nervous. Nervous about when the phone would ring and nervous about Ava's consultation with her ENT for an evaluation for a frenulectomy. I don't know why, but that's how I was. I approached the appointment prayfully. I simply wanted to express to the ENT why I felt that this procedure was warranted even though clinically her frenulum is not tight.

They did not clip it in the office. The ENT feels that is cruel to do with out anesthesia for a child Ava's age. He did agree with my logic and thinking about why I want it done. However, he said that he is not in a rush to do it because he doesn't think it will help. I am supposed to email him once I have more results from CHOP and when we decide to have her MRI and Lumbar Puncture. If we do that at AI not CHOP then he said that he would clip it for Ava. Otherwise we have to figure out how to make that happen.

We still have not heard from CHOP. I am begining to think that our Genetic Counselor is ill. Everything in His time....

Monday, October 26, 2009

This weekend Ava had orange in her diaper. I thought it had something to do with how little amounts of breast milk she has been taking. On Saturday she slept all day and night. She would wake to eat but be too tired to do a good job. She was totally poky and freaking me out.

On Sunday she was AWAKE and hungry. That poor child works so hard to eat and it tires her right out. So she doesn't sleep and then is too tired to be efficient. She was up, with catnaps yesterday from 1-12am. She tried to eat off and on the whole time.

This morning, I woke her up to eat after 6 1/2 hours. She was raring to go. She took 1 1/2 ounces and then I needed to give her a break so I could get the other three ready for preschool drop off. She was grumpy and wanted to eat. She then had a great suck, but it was coming out too fast and she was spitting it out. I got about a half an ounce in her before we had to go. Ava fell asleep in the car. Got home, changed Elaina's diaper. Put Ava down and she woke up. She ate another 1 1/2 ounces and was satisfied. I then took her to the doctor to see if there is something else we can do.

I found out that the orange crystals in her diaper had nothing to do with a byproduct in her urine. It was from concentrated urine mixing with the chemicals in the diaper. Thank you Pampers. As annoyed as I was that I dropped 30 bucks for that appointment, I am glad that she is OK .

I find that I am always on alert, waiting for her to begin to fall to pieces. I don't want to be living like that but in a way I have to. If she begins to get symptomatic I need to get her care as soon as I can. Of course, we have no idea what symptoms would present themselves or how.

Hopefully we will have a better idea of what we are up against soon. For now we are trying to get Ava to get more calories with each feed. She is getting a half a scoop of formula per 2 ounces expressed breast milk. Hopefully this will help beef her up and give her more energy. Ava goes back to see her pediatrician on Thursday for another weight check. (That's sixty bucks in this week.) Ugh out copays are annoying. I am trying to get the Office Manager at the Doctor's office to give us a frequent flyer discount.

I called a different ENT who I was interested in seeing. That particular practice doesn't take our insurance. I was really hoping to see that physician. Maybe the frenulum issue is going to be resolved soon.

Sunday, October 25, 2009

Ava's Dedication Day

Today we dedicated our precious baby to God. Our pastor asked us 4 questions about our commitment to prepare Ava to have her own relationship with Christ. The 4Th question is about how we accept whatever God's Plan is for Ava. He asks these same questions every time he dedicates a child.

After Eric's death I realized all that question 4 means. Initially Allan and I thought, "of course, if our God wants our child to be ______________, we will support it."

But it is so much more than that. God's purpose for any of us is always perfect. Perfect doesn't mean easy. Sometimes it can be trepidatious and hard.

Today we made a commitment that we will pursue God's plan for Ava, no matter what the consequences. It's His plan and it is perfect.

Ava wore a dress that my mother made using material from my wedding dress. She also used lace from my dress as well. Each of our children were dedicated in an outift made by my mom with material and lace from my gown. The bottom of Ava's dress was adorned with lace from my sister's gown as well. There was only one lace flower left from using what we bought on my gown and three dedication dresses. She looked so pretty.

Saturday, October 24, 2009


Yesterday was the day the a lot of Ava's DNA testing would be completed. The Genetic Counselor did not anticipate that we would know anything until next week. 5 of 9 results came in. So I got a surprise call at 4:30.

We are getting nitty gritty and complicated. Ava did not have any gene mutations on any of the results we received. This would be on 2 of the 4 known genes that cause mitochondrial depletion. Of these 2 genes I knew one would not have mutation as it was checked in Eric from his muscle biopsy. The two that are not back yet are the two that are the ones we think most closely resemble Eric's picture (POLG1 and DGUOK).

Two other results were to just check and make sure that we weren't missing anything. Those genes were fine, as anticipated.

The hearing loss panel, which we were not expecting for another week or two also came back without mutation. What was tested were the 4 most common genes that cause sensorineural hearing loss. (There are about a 100 genes that can cause this.) The genetic counselor has a call out to the geneticist who sees children who have hearing loss without having a syndrome. The question is to see how many children does she/he see that do not have a mutation on one of the 4 most common genes. This will help us know which path to follow if we don't get any other answers from the remaining labs.

What are we waiting on? All of the information that we are most interested in, of course.

The sequencing of the 2 genes that cause depletion. We are also waiting on the "mitometa array". (I know your are thinking, 'well of course we are'!) This is a test that will look at all the nuclear mitochondria and see if there are any deletions on any genes. If there are it will point us in the right direction to see what to test next.

Another test we are waiting on is one that will tell us IF Ava has any mitochondrial depletion in her blood sample. This will tell us her mitochondria ratio. This can also be tested in muscle, as it was in Eric. He was 99% depleted in his sample. While the percentage of depletion may vary depending on if a patient is symptomatic, depletion will be evident none the less. I am hoping she does not show depletion in this test. I also have to try and hunt down Eric's records to see if they did this test on him as well. (We have results from muscle, but not blood).

Disclaimer: This is how I am understanding what we are being told. I hope I'm wrapping my head around it correctly.

Less confusing information I received yesterday is that the ENT is willing to look at Ava, but only likes to clip frenulum's if they are tight. I am going to plead my case and try to get him to do it. If he won't I'm going to another ENT who will. Ava's pediatrician and I feel like it's not going to hurt her any so why don't we give her a chance. I totally understand that it may not help, but what the heck can it hurt????

We should know more results from Ava's testing by about Tues. Eric's DNA is now just recently at the lab in Baylor. There was some type of UPS glitch having to do with AI DuPont's lab not using UPS. So the sample didn't get sent until Thurs. It's plain annoying. Eric's POLG1 sequencing won't be done for a month.

What is frustrating is that once we "know" we won't really. We have no way of knowing what Ava's health will be if she does have a mutation. We only will know that we have to watch her like a hawk and be on alert.

Our current main tasks are: 1. Keep Ava well. This is going to be tricky because flu is rampant around here right now. 2. Get that kid to eat. 3. Hunt down Eric's Records to see if there was a depletion in blood test. 4. Get her frenulum clipped. 5. Collect urine sample (the bane of my existence).

Sleeping Arrangements

When we found out we were going to have our 4Th girl we realized that we needs to reconfigure to make space. One thing we did was to get Emily and Alexa bunk beds. Previously they were sleeping in 2 twin beds- pushed together, of course. Emily would sleep in the crack and Alexa would be as close to her as humanly possible.

We made the switch in July.

The Plan: Alexa gets the top, Emily the bottom. Alexa climbed down the ladder in the store to show me how she can get down if she has to go potty or if Emily gets scared.

The Reality: No one has ever slept in the top bunk. (No big surprise here). They were sleeping in the bed length wise until Alexa kept falling out every night. Now they sleep perpendicular at one end of the bed. (You see the window at the other end is scary and there might be a bug on the ceiling if your in the top bunk).

The Problem: Covers. They keep falling off Alexa in the middle of the night. This causes her to scream and cry for help. This wakes up Emily, sometimes Elaina and one of us. This ALWAYS happens within 1/2 hour before or after Ava eats. No one is pleased, everyone is cranky. Alexa doesn't care. I think she likes all the attention.

The Solution: Emily decides to sleep up top. She's sick of Alexa waking her up and bugging her in the morning. So at rest time she makes the top bunk her own. (Apparently it's used for Alaska or Australia during rest time prior to this),

The Crisis: It's bedtime. Emily goes up top. Alexa cries. She wants to snuggle her sister.

Emily: "Alexa, I PROMISE if I get scared I'll come down. I PROMISE".

Alexa: "BUT I WANT TO SNUGGLE MY SISTER. I'll get scared." (tears, hysteria)

Daddy: "Do you know your 2 year old sister has been sleeping in a bed by herself her WHOLE life. She's even in her own room?"

Mommy: "Girls, you do realize that you won't sleep together when you're married."
(Looks of shock and horror) "You won't even be living in the same house."

Emily (who is now inching her way down the ladder): "Well...We might."

Mommy: "I'm going to let you 2 decide". (Two kids sitting next to each other on the floor, deep discussion.) Exit Mommy.

A little while later, Emily is sleeping with Alexa, perpendicular all squished up on 1/2 of the bed.

"Mommy, I came down because Alexa was screaming." (Insert sly smile from Alexa.)

Wednesday, October 21, 2009


Since Ava's 2 month appointment I've been feeling sad. I see how God is providing what we need in each moment to get us to the next. For that I am so very grateful. But the overriding emotion has been bleak. Allan's been feeling it too.

Ava has been so sleepy and not hungry from her shots. Then toward the end of last week she perked up. By Sunday to Monday she was hungry, hungry, hungry. Yesterday, no weight gain to speak of. Very discouraging.

Since she woke up after her Synagis shot yesterday she has been eating every three hours again and is noticeably stronger. She is holding her head more and I can feel the strength in her back. Her sisters have noticed it, Allan has noticed it, I notice it. This morning after Elaina got back from Preschool drop-off our babysitter told me,"She's stronger." Later today we had some visitors who noticed how she was supporting her head. This is an unbelievable encouragement to us as we continue to wait.

As far as the clipping of the frenulum goes, our pediatrician is getting in touch with Ava's ENT and will get back to me tomorrow.

A song comes to mind: "Strength will rise as we wait upon the Lord. We will wait upon the Lord. We will wait upon the Lord. Our God, who reigns forever. Our hope, our strong deliverer...."

In despair there is always hope.

Tuesday, October 20, 2009

Weight Check

Ava is still not gaining weight. We are going to hold off on any intervention (IE: adding cereal to her expressed milk) until we get some results back since we just don't know if it's a preemie issue or a mitochondrial one. I did bring up the "tight frenulum" issue with the pediatrician. He jumped on it and agreed that she should have it clipped.

So I emailed the ENT to see what he thought. His initial response was that she doesn't need it done as she would have had issues since birth. Ummm, she has. So since I have nothing better to do, I will call the pediatrician and see if he can champion Ava's cause. Which I think he will since he's going above and beyond on everything else I talk to him about.

Case in point: I talked to him about Ava's labs last week. I told him that while I appreciated his input and the doctors at CHOP, I would really like to know what the geneticist who saw Eric thought as we trust him. Today he told me he called that doctor who was not worried about her elevated lactate level as it was a send out lab and there is lots of room for error.

My current theory: She is using up her calories trying to eat. (Have I mentioned she is slow?) Slow and persistent. I think because she is tongue-tied she doesn't have enough thrust to be efficient in her sucking- either on breast or bottle. I mentioned this theory to a lactation consultant friend of mine who agrees it has potential. So I want to give her a fighting chance. Sometimes we have to rule things out to rule things in.

I should have gone to medical school. Really though, all Moms should.

Our pediatrician tells me she is acting like a preemie. I am begining to believe him. It's taking time, but I'm getting there.

Life rolls on. Alexa made breakfast for her sisters today so I could finish feeding Ava. Elaina wants to dance a "Princess Hustle" and thinks she can. (That is just plain entertainment). Wiggle wiggle, shake shake- "See that is just how I do it." Alexa rolls on the floor in some sort of dance fashion ( I use the term dance loosely here) and then reports "I think I'm totally ready for Dancing in the Stars". Emily just wants to take ballerina lessons to perfect her Argentine Tango. Ava, who got an RSV vaccination today, woke up after the trauma and held her head better than we've seen. Alexa noticed and said, "she's getting stronger!". That child is pulling for her sister and just wants her to be OK.

Tonight I was actually able to paint the girls names on their book bags for school. They were so excited. I had them each choose the colors they wanted each letter to be. Then I had them tell me what to paint on the book bags. Emily and Alexa kept telling me that I was doing a great job and that I am an artist. I then decided to decorate Elaina's diaper bag (it's canvas too). Oh she was so thrilled. It was so nice to hang out with them like that. Daddy was feeding poky pants.

So now Alexa's book bag has puffy paint name, sun, smiley face, sunflower with grass, and an apple. Emily's boasts a sun, smiley face, her name and a pink flower. Elaina requested a spider, but changed her mind. She settled on her name (which I initially totally spelled wrong. Am I tired?), a smiley face, lots of colors, and a ladybug.

Monday, October 19, 2009

Today we finally got through the red tape of coordination and got Eric's DNA sample overnighted to Baylor's lab in Texas. A thorn out of my side and hopefully a way to lead to answers. 6 years ago I was OK without having answers, now if I can get them I want them. Although it's scary to look in the face of your genetic constitution and how it's manifested in your children.

This is the week that Ava's depletion panel sequencing should be completed. It bothers me that someone out there will know something that I won't be able to for about another week. My mind has been working over time thinking of all the scenarios of what we may or may not be faced with. Trying to prepare for the worst and hoping for the best. This is extremely difficult for us as we grapple with the impending information. On one hand ignorance, while not really blissful, is easier than facing the facts. One the other we feel beaten down and unable to deal with this anymore. There are just so many areas that we are concerned about. In a way it's good that there's too many to enumerate. Then we don't get bogged down in the details. As the top of the page says 'God is in all the details'. When you think about what it takes to form the very gene that we are having sequenced and all the options each piece of DNA holds, it's impossible to not see that God designed us down to every allele and variation therein.

I can't tell you how many times since Ava's birth I've said "I can't do this anymore" or something of similar sentiment and intensity. Then I see today,and this minute and think: OK, I don't WANT to do this anymore (and sometimes I feel like I will crumble right there on the very floor I stand on) but here I am still "doing this". By His grace and His grace alone I can do this. Whether I want to or not. I am. I hit a bottom and something happens to pick me up and keep me going. I take comfort in that as I have no idea how long of a haul "this" is or what "this" we will be faced with.

I did a little research this weekend on the specific gene that the geneticist thinks housed Eric's problem. I kept a pen and paper next to me so I could look up some of the medical jargon for a clearer understanding. I feel like if we get the news that there is a mutation on POLG1 then I need to know what they are thinking. This was mostly motivated by the geneticist's statement that if there is such a mutation then Ava may need a liver transplant. What I found was confusing and somewhat encouraging at the same time. What I learned for sure was that the hope I hold close to my heart is not unrealistic.

I am finding that it is incredibly difficult to know how to advocate for our daughter when I don't know what we are up against. I have a million questions, all at this point, hypothetical. But I don't want to get caught off guard. No one makes good decisions in that situation.

Knowing all this I can take great comfort in that God is in control. When the questions swell and I feel as if I will be overcome I give my concerns to Him. My mind quiets and the dust begins to settle. Sometimes my questions come into focus and I narrow in on that path for research. I know He is guiding us. I know that it is because of God that Allan and I are able to face each day before us during this agonizing wait. I know that these results may very well be inconclusive, and He will continue to guide us. We ask Him to let us know- when and if Ava needs to go to the hospital, which one to go to, when to slow down the testing, which test to run next, how to feed Ava. We've committed it all to Him. I find fault that I try and control the information. But the truth be told, I really am glad that I am not the actual one in control.

One moment of clarity that I recently experienced is that Ava is no Speedy Gonzalez. At birth she was a poky eater and fairly laid back. She is still poky. She is making positive progress, but won't win any races doing it. I think I need to get her the story "The Tortoise and the Hare" so that one day I can best explain how she and Elaina are so different. Eric made great and quick progress and then quickly backslide. Ava just chugs along, wide-eyed and as cute as can be. She gets really feisty when she's hungry or feels that she has suffered an injustice (shots, blood work, sisters on her head while she's hungry). She gains skills, slowly but surely. I think she is slow in weight gain because she burns the calories while she eats. She is that S-L-O-W. (Or I'm that impatient.) She continues to amaze us everyday. The other night she was super interactive. She was intent on watching my mouth. I yawned, and she yawned back at me. It was precious.

Saturday, October 17, 2009

Mission Impossible

Depart: 9:20am
Destination: Pediatrician
Mission: Flu shots for 3 ladybugs

In the car at 9:16am. Mommy and Daddy high five. Emily cries from the far reaches of the minivan, "I need a snugly toy". Two others chime in. Requests bounce around. Daddy opens the just closed garage door. Mommy runs in to retrieve Kitty, Dogie, and Baby-with the orange shirt.

9:18am- snugly toys dispersed and we are on our way.

Everybody was fine until we hear our names called. Emily and Alexa's anxiety levels increase. Alexa throws her sister under the bus and volunteers Elaina to be first. Elaina doesn't care she's getting the flu mist.

Aside from screaming, writhing and screaming "I want to go home. " "Don't make me do this", etc etc all were vaccinated and they were unscathed. Mommy and Daddy, not so much.

Off we went to the mall to spend our five dollar bribe money at the Disney store. (One had to cooperate starting with getting up, dressed, and out the door). We held a loose definition of cooperate when it came to the actual vaccination: Did Mommy require a trip to the chiropractor as a result of the flu shots? Not this year.

After 1 1/2 hours of indecision we came home with 4 kids, 2 boo-boo arms, three stickers, a Snow White doll, a Tigger phone, flashing Cinderella shoes, and 2 giant headaches not cured by the comfort coffee.

Mission accomplished. To what end, we don't know.
It's amazing to me how my emotions are so closely tied with what Ava is up to each day. Yesterday she slept all night long followed by all morning and into the afternoon. By 1:30 I had had it. I was sure she was slipping away from us. I tried to rationalize that she was up ALL day the day before and she was just tired. Then I kept thinking that she should be more hungry than she was. And then and then and then....

But girlfriend DID wake up. Then she was more interactive and had more head control then I've seen. Then she ate, and ate and ate. She catnapped and ate and cooed and tried to watch TV until she went to bed at 11:00. I was so enthralled with her that the Yankee game was taking a back seat. (Which they won, by the way so all in all a good night).

We don't know what, if anything, is wrong with Ava other than her hearing. But all the doctors are treating her as if there is a problem. I understand that this is safer for her so we can be proactive. But it's enough to drive you crazy. We have to think that she has a problem to stay on top of it. She's a baby and who knows if she's being a baby or if she is starting to be symptomatic. We don't want to under react, but we don't want to over react either. The thing is, once the DNA testing starts to come back we STILL may not know what the deal is. It is so easy to get lost in my head about all this. Then I remember that God will guide us, and is guiding us and I have to remember to trust that He tell us when and if we need to take her in to the ER. It is so hard, but I know in my soul that that is true. I need to constantly remind myself to get out of my head. He is in control here.

Thursday, October 15, 2009

Today was laundry day. There used to be a time when I could just throw a load in and cycle it through and viola! Clean clothes. Now it has become a declared effort. It amazes me how many literal roadblocks occur between the family room and the laundry room. Today, as with every day,I make verbal lists: First you get your Blueberry Special K with milk, then I pour my coffee, then I pump and then we fold the laundry. Three bowls of "Blueberry K" and a bowl of Chocolaty K for me and three bowls of dry plain Cheerios later, the coffee is not poured, the baby needs to eat and no you may not take your cereal in the family room. No you may not either. No you may not either! The laundry sits.

It's late morning possibly noon, the clock in the kitchen needs new batteries so how do I really know? I declare, again, that today girls, we will FOLD. I get the baskets and commence. The baby is FINALLY down, after eating and eating and eating. Today was make up day after shot day apparently. The girls are getting hungry. Elaina is standing in my lap hugging me and generally wiggling. She says she's helping. Emily actually is, that girl can fold. Alexa is 2 feet away, coloring. At least she is not on top of me or some how in between me and my piles. Next thing you know I am banished from the kitchen. Emily and Alexa are gone and Elaina is still "helping".

I am summoned. At this time there is more folded piles than clothes in the basket. There on the kitchen table are 4 deli sandwiches, made to every one's taste. I tell you it was the best, and messiest lunch I ever had. It was Alexa's idea. She wanted to help me get the laundry done.

After lunch I was cleaning up the mayo off the floor and the mustard off the table. Now I'm banished from the family room. Emily, Alexa and Elaina took their clothes piles and put them in their respective drawers.

I really wished I took a picture of our lunch today, especially of Elaina who was playing in the mustard blob Emily put on her plate as a fun surprise. I now know where Dr. Seuss got his idea for the pink snow from. It's amazing what a very little dab of mustard can turn into.

Wednesday, October 14, 2009

All that stressing and all the Genetic Counselor wanted was to talk to me about payment options for Eric's sample. BUT I made the most out of her call and got lots of questions answered. First and foremost she and the Geneticist didn't seem concerned about Ava's elevated lactate level. Her answer to me was that that is a tough level to draw correctly and get an accurate picture. She offered that we get a repeat level. I declined as it wouldn't tell us anything, really. First of all it takes 2 weeks for the results and secondly why would we subject Ava to that kind of stress just because I'm worried.

We also were able to find out that the DNA testing on Ava will be back by the end of next week and we should have the results sometime in the last week of October. The hearing loss genetic testing won't be back until the first couple weeks of November. I was also able to find out that if Ava has a mutation on the POLG1 gene it would not automatically be a lethal diagnosis. Of course Eric's story is not encouraging, but people do survive this mutation. To what end will she be compromised? No way to tell. My soul cries out as I think of all the things my baby may have to endure. But I know she will be able to handle it. I just hope we can too. We can really learn a lot from our kids.

Today Ava was super sleepy. She got her two month shots yesterday. I hate shot day. Of course I would like the option of disease much less. When she was awake she was interactive. Grammy reports that she spied her batting at objects in her activity gym. But that is unconfirmed. While she was sleeping on my shoulder she used her arms and pushed her head off my shoulder. Allan saw it too. So that is confirmed.

In the next few weeks we will be getting news and having some big decisions to make. Right now we are both just weary from waiting and getting nervous knowing that we may just KNOW.

When I woke up today I didn't know how I was going to get through it. I was feeling low. But God gave me so many things to help me get through it. I got to spend the morning with Emily and Alexa for a preschool field trip and then a little girl time shopping trip to BJ's on the side. ( I know I really know how to live it up). My mother in law, who was watching the littlest ladybugs then took the biggest 3 out for lunch. I had time to have a much needed talk with a dear friend. Then I was able to enjoy some snuggle time with various combinations of little ones. When I felt at the end of my rope, Allan came home.

So for now we hang on and trust that God give us the strength and wisdom to carry on. This is a heavy burden, no doubt. However, it pales in comparison to that which Jesus carried for us on the cross.

Tuesday, October 13, 2009

2 month checkup

Ava had her 2 month check up today and again, I come away with the same message: either we have a preemie who needs hearing aids or she has a mitochondrial disease. One main area of concern is that Ava is still not gaining weight quickly. She's gaining but not as expected. I, of course, freaked out when we put her on the scale. The pediatrician did a great job pointing out to me that her head and her length are on the same curve and making good progress. He said that she is growing and she is prioritizing brain growth and length and doesn't have many calories left over for weight. I am trying to decide what is best for little Ava. Currently I am going to have to make a more concerted effort to pump and supplement or just give her expressed breast milk. I don't want to switch her to formula so that I can make sure I am giving her all the nutrition and antibodies she needs especially in light of the looming flu season. This is really stressful for me so I would really appreciate prayer. It would be so much easier if we knew why she isn't gaining well. Is it because I don't have enough time to nurse her for long periods multiple times a day? Is it because she doesn't have an efficient suck or that she burns more calories nursing? Could it be because she is tongue tied? Or is it because she is long and lean like her Daddy and this is how she grows? OR is it a greater problem for which we are waiting for a diagnosis? If I had a better idea why I may be more inclined to more aggressively pursue supplementation. I do know she looks fantastic and is clearly not starved. So there's that.

After her examination the doctor did tell me that he thinks Ava's tone is good and appropriate. He also tells me that he sees a difference in her developmentally and in strength. Any progress is always reassuring and encouraging.

Ava also got lots of blood work back. All looks to be pretty good. Of all the values that they have been testing (like 45) only two are not exactly perfect. One is a little high, one a little low. Our pediatrician said that if we were to study any one's blood like we are Ava's we'd probably find a few values off. So what this tells us that things are encouraging for the now. None of the labs that are back yet are diagnostic but give us a picture of her overall metabolic health. Of course the one value that is a little high is her lactic acid level and that was high in Eric. Now it was high a few weeks ago and we were told by 2 geneticists that it was OK and it was nothing to worry about. This result is the same difference higher, but on a different scale and a different type of lab draw. So I really want to talk with the geneticist and or our counselor to see what they think of that. Of course, after 2 voicemail messages, she hasn't called me back after her message yesterday. Am I annoyed??? Yup.

It's been an emotional day. We got encouraging news about Ava and I find myself focusing on the little things wrong. I don't like doing it. It frustrates me. I know that all we are seeing and are being told right now is any body's guess. Because no matter what blood sample we draw or what specialist observes our baby, only God knows what Ava's next step is. He loves her and He loves us. There is nothing we can do to change Ava, but we can remember that our strength comes from Him and our future is in His hands.

Monday, October 12, 2009


So here we are waiting for ANY news on our baby. I don't care what it is. Just ANYTHING. Today the girls and I spent the day at my parents home. Just hanging out like always. After we got home I found 4 messages on the machine. One of which was the genetic counselor. I don't know why she didn't call my cell phone. Of course we got home after business hours. So I did what any sane Mom who jumps every time the phone rings would do. I called her voicemail in hopes she was working late. Of course she wasn't. So I left a message and hope I didn't sound desperate when I basically begged her to call my cell phone tomorrow. I'm not so good at being patient.

To add to the increasing anxiety level, Ava has a "well child" check up tomorrow morning. I get nervous to hear what the doctors see in our daughter that we don't. At least the appointment got changed from afternoon to morning so we can get it over with sooner.

Sunday, October 11, 2009

Through this time of waiting to find out about Ava's health I find joy in the small things. This weekend we have been able to enjoy family time, celebrate my brother's birthday, worship and watch baseball. All of it is seemingly routine, but a breath of fresh air amid all the worry and concern.

It is just so difficult to not focus on what may be. I try not to analyze every little thing that Ava does or does not do. This is a huge struggle. I realized after Eric died that all the hopes and dreams we had for him were what we wanted for our son. But Eric's life story, although short, was all that God intended for him. I find that if I pick Ava apart and expect that she has the same mitochondrial disease that plagued our boy then I miss out on who she is today. No matter how long we are blessed with the opportunity to raise our children it is our job to enjoy who they are NOW. To watch them unfold into the people they were created to be.

Ava is unfolding, her personality is emerging. I don't want to miss it because I am expecting the worst. So I make a conscientious effort to love her in this moment for all she is. And I find myself hopefully hypothesizing who she will be, and what she will be like when she is older. I know full well that God has His plan for each and everyone of our children. But sometimes it's fun to think ahead.

Friday, October 9, 2009

A little normalcy?

7 am: Mommy out of the shower. Ava cries. Mommy gets dressed. Elaina makes wake up sounds. Mommy runs downstairs, pours coffee, sets up changing station for Ava, checks email. Ava screams. Mommy runs upstairs, gets Ava, gets her dressed. Ava screams for food. Elaina is fully awake and is going to wake up Emily and Alexa. Mommy and crying Ava go into Elaina's room. Her diaper leaked. She wants to read Ava a story. Mommy starts to nurse baby while Elaina "reads" to Ava. Phone rings (it's 7:38 so Mommy needs to see who it is). Crying baby, soaked Elaina and Mommy back downstairs. It was Daddy. Elaina goes to get her morning drinks. Juice and Milk cups not made last night as the dishwasher was run a little later than usual. Apologetic husband. Ava starts to actually eat, gross wet Elaina cuddles me. Thirsty Alexa comes downstairs. Agrees to wait for Ava to finish eating to get her drink. Mommy, Ava, gross wet Elaina and Alexa are now all on the same couch cushion. Alexa cuts her finger on a rivet on my jeans while trying to tickle the nursing baby's feet. Crying Emily emerges from her slumber. No room to snuggle. Temper tantrum on floor. Offer to make space. Still crying. Ava's still nursing, Alexa is still thirsty and Elaina is still gross. Emily makes snuggle space, now 5 people are on one couch cushion. Ava goes into a food coma, won't burp. Mommy gives Ava to Alexa. Gross Elaina stays on the couch. Emily follows Mommy to get juice and milk cups made, get a band aid for Alexa's bleeding finger and a diaper for Elaina. Elaina gets changed. Mommy goes up stairs to get an outfit for Elaina. Runs downstairs to a hysterical Alexa. Ava spit up all over her. Ava wiped off, Alexa stripped and wiped off. Alexa goes upstairs to get dressed. Emily holds Ava while Mommy finishes dressing a naked, but diapered Elaina. It is 8:05am.

Crazy sometimes just feels good.

Wednesday, October 7, 2009


Today I got a call from our genetic counselor. We now have access to Eric's DNA and it is being shipped to Baylor University for testing. The goal is to identify the specific gene that is mutated in Eric's DNA and compare it to Ava's. This is the only way we are to be certain that Ava does or does not have the same illness that Eric had. Insurance authorization did not come for this. We are going on faith that we can pay for such testing in order to spare Ava more invasive and or risky testing. We are praying that our answers will come and we will finally know what happened to our son as well as what is causing Ava's hearing loss.

This is such an emotional journey. To know that we will have labs coming in soon and genetic testing results to follow is a little overwhelming. We are asking for prayer that we are able to handle the reality that we will be facing- for Eric's past and Ava's future.

It's difficult to catalogue how the emotions range. The hackneyed phrase is that this is like a roller coaster. Today I am trying hard to stay optimistic, but doubt is creeping in. I dearly wish I could always go with my gut, but I am so fearful that my gut is wrong. We have been crushed before. Sometimes I can't even imagine that Ava's outcome would be what our hearts are longing for. Then there are times where I feel like how can it possibly be the same as Eric. For sure it is what it is and it's ordained by God.

It is in these moments that I find it the most delicate balance. My mind is light years away and my children have very concrete needs. I sometimes wonder how I can meet them. I look back on the days since Ava's birth. It's been a long and dark road. But through Him we get up everyday, get dressed and try to put one foot in front of the other. We pray that our precious daughters will be protected from those times when we are just emotionally unavailable and they will thrive in spite of us.

We are taking this one step at a time, knowing that God is the lamp unto our feet and a light unto our path.

Tuesday, October 6, 2009

Today's Hope

That last 2 days have been good for us. I feel that Ava has been growing and getting stronger. She is so very alert when she is awake and she really loves to look around. She especially loves her sisters. Last night I was showing my Mom and her friend how to sign A-V-A. I was unaware but apparently Emily was watching. This morning I saw Emily showing Ava how to sign her name. Then she was signing "I Love You" to her. Whenever Ava is mildly disgruntled I find Alexa rubbing her head, giving her a pacifier and calling her precious baby. Elaina will lay her head on Ava and suck her thumb. Ava loves it. Her eyes get bigger and she clams down when she knows that they are around.

Today Ava went to the last appointment in her 5 specialist marathon. She saw the ENT. He was encouraging and supportive. We began to hatch a plan to address Ava's hearing loss. These things will be on the back burner as we continue to get a picture of her overall metabolic health. We will be attempting to insurance coverage for the hearing aids. This should take 4-6 weeks. So I guess we could say that all Ava wants for Christmas is hearing aids. Depending on Ava's health and final diagnosis, she may be getting an inner cochlear implant at 1. That is a long way off. And I pray that we are afforded the opportunity to explore that option for her.

I am excited to have her receive her hearing aids. I vividly recall the day Eric's hearing aids came in while he was hospitalized. He was so awake and stimulated I had to take them out so he would sleep. When we found out we had a deaf child we were initially devastated. I was selfishly thinking about how Eric would look with hearing aids. But that moment changed it all for me. It was so precious. I can't wait for Ava to be able to hear us talk to her.

We got some news tonight from Ava's pediatrician. Some of her blood work has come back. This is highly medical and I am not a doctor so I will try my best to explain that which I don't fully understand. The lab work that came back was Ava's amino acid in plasma quantitative panel. There are 39 amino acids in her blood that we had tested. 38 came back 100% normal and the 39th was a smidgen low. This means that everything is good. How's that for watered down information? This is a good picture that Ava has the right amount of amino acids in her blood and so far the labs are showing good balance in her metabolism. We wait with hope that the other blood values are OK too.

It seems after tons of blood work and visits to 5 specialists we find that there isn't much wrong with Miss Ava other than the fact that she is a preemie who doesn't hear so well. There are small lab values here and a tiny VSD. But we are reminded that no one is perfect. Mutations in genes happen. Sometimes they can be physically devastating, sometimes they may cause loss of function. But we are all Created by God who loves us and calls us to His purpose. We may not understand why something happens, but we can understand that He will carry us through no matter how hard the situation is. Right now we are on an up swing and feel hopeful that we will not have to despair. I know hard times will come. But as my brother suggested we are going to "enjoy our hope" and gain our strength from the One who holds us in the palm of His hand.

Monday, October 5, 2009

This is what happens when Mommy is trying to get things done. "I get up here by myself. I brush my teeth. I go outside."
This photo was taken several months ago but it is a great summation of our daily craziness. Plus it makes me smile.

Saturday, October 3, 2009

Ava had a good and VERY LONG visit at the cardiologist late yesterday. Everything seems to be fine. she does have a 2mm VSD, which is not a big deal and should close on it's own. Not surprising since she is a preemie. Again we find out that Ava is either a hearing impaired poky 35 weeker or she may have a mitochondrial disease. All the specialists are saying she looks great, BUT if it weren't for her brother.... So we wait. Today we go with that she is a poky 35 weeker who is starting to get it together. She is visibly bigger and I like that. Now we wait for all of the test results to come back and a resoultion to acess and test Eric's DNA.

I find that I am being taught many lessons in finding hope even when I feel despair. When I find some hope I hang on tight to get me through the next period of time. It could be an hour, a moment, a day. When thoughts and feelings of despair trap me I pray for God to give me some hope. Despair is dark and ugly and not of the Lord. I am constantly reminded of how human I really am.

I've been trying to steal moments with the other girls so as to not be totally focused on Ava. Last night while Allan was tucking Emily and Alexa in I was "Snuggling. 2 minutes." with Elaina. While were were laying on the floor we read Pooh's Heffalump story. Elaina was insistent that there were no Heffalumps in the book, they were Elephants. There was just no way to convince her otherwise. Then her 2 year old attention span travelled from there to Ava's ears are broken to the notion that Jesus loves her and her sisters and if Jesus lives in her heart He will tickle her. But then again those are just not Heffalumps. Sweet moments like those are ones Mommy's treasure. Especially now they are like breaths of fresh air.

As difficult this is God has blessed us with 5 unique and beautiful children. All of whom we learn valuable lessons from whether they are with us for 4 months, like precious Eric, or hopefully a lifetime. Or job is to love them for as long as we get to keep them.

Friday, October 2, 2009

Prayer Request

I have a quick prayer request. I just got off the phone with the genetic counselor. We are having trouble getting a hold of Columbia University in order to see about accessing Eric's DNA sample(s). I am asking that this road block be lifted and we can proceed as God sees fit. Apparently they are short staffed and no one has been answering the phone over the last week.

Ava goes to the cardiologist today at 3:30pm. I will update after that. (Most likely after the three bigger bugs are in bed. Currently they are destroying the Kitchen under the guise of eating lunch. I'm a little afraid to go and see what there is to find. There's talk of salad dressing. It really can't be good....

Thursday, October 1, 2009

Ava Elisabeth was born 6 weeks ago, 5 weeks early. She did not pass her hearing screen at birth. We took her to AI DuPont for follow up testing. It was there that we discovered that Ava has severe to profound hearing loss. Our Son Eric was once diagnosed as such as well. It wasn't just hearing loss. It was an undiagnosable mitochondrial disorder which took his life when he was 4 months old.

We are now trying to figure out if Ava has the same genetic problem that her brother had. The problem is that we don't have a clear cut diagnosis for him. WE have his DNA in some of the best labs across the country. We need insurance authorization to test his DNA so we can possibly be firm in Ava's findings and spare her from some harmful tests and lots of blood draws.
We are praying that Ava will remain with us and just have her ears be harmed. This will be a long emotional road but we are relying on God to walk us through. He did with Eric, He will now too.

Update 10/01
Yesterday Ava had the remaining blood work drawn. It was a lot of blood and she seemed to fair well. Today she had an appointment with the Neurologist. It usually takes a month or so to get in with him, but he remembered Eric and they saw us two days after my phone call. After a comprehensive evaluation we were told that Ava passed her exam, but he is concerned about her head control. He stated that if I brought her in his office and he didn't know about her brother then he would think that she was appropriate for being 5 weeks early. Which still may be the case. However, because of family history, he wants to watch her and will see her next month to know for sure.
Currently this news is bothering me, even though I know that is mostly OK. It's needling at me.
We are seeing all these specialists at the request of the geneticist so we can get a base line of Ava's functioning so we can get a picture of her current health. I fear that all these exams are too much for her. The Neurologist is hatching a plan if Ava becomes acutely ill and how to proceed from there. At this time it is imperative that she eat regularly, not fast for any test or exam and to keep illness away from her. If she should become ill then we would have to take her to the hospital for IVs. This is in effort to not throw a wrench in her metabolic system as a wrench is likely not something she would be able to recover from. (Should she in fact have a mitochondrial disease). We are now thinking that is what started Eric on his downward spiral.

This is a lot to digest. We find ourselves on a path of discovery. In the process of trying to help our sweet baby girl we are finding more and more out about what happened to Eric. None of which we were ready for. This is indescribably difficult, but we are trying our best to dig deep, have hope and rely on God. He was the only way we got through Eric's illness and subsequent death.

When I feel deep despair I find God gently nudging me to remind me of His presence, plan and His love for us. I could be a phone call from a friend, a letter, Facebook message, one of our daughters' hugs, giving us a snugly toy. It could be how the day all of a sudden changed from despair to hope. Ava could wake up and smile.

Emily and Alexa will be five in a month. I was trying to talk with them about their party as we may have to share it with Ava's dedication. They were all excited about the prospect and Emily even said, "I would love that." I was all stressed out about not being able to dedicate her on a more convenient day for our family and here is my daughter showing me compassion and flexibility. God is in all the details.

Tomorrow Ava sees a cardiologist for a baseline evaluation on how well her heart is functioning.
I pray for strength, endurance, and of course good news.

Today I ask for prayers that we have hope and peace and that Ava get stronger. Good news is that she gained a good bit of weight since last Friday, so that is encouraging too.