Round 1

For the most part, today was a good day. Not as trying as we thought it would be. We got to all of our destinations with out any problems (traffic or navigation). First we went for the metabolic testing. Let's see....this was not Eve's favorite. They put this drape with a plastic bubble over her head and hooked up an oxygen tube to it. She was to sit calmly in this for 15-20 minutes. Yeah....not so much. Fortunately, the plastic bubble dampened the screams. The poor kid got so worked up in this little greenhouse that she got totally sweaty and fogged it up. She survived that and then they hooked up an EKG to her. Again, not so happy. But, she managed to calm down for this since she wasn't being pinned down. Jim was able to distract her with pictures on the camera. Speaking of pictures, here are some shots so you can see what was involved. Is it bad that Jim and I are laughing?







Then we went to Dr. Shoffner's. Very interesting experience. He is soooo calm. He told us that he had reviewed Eve's records and spoken with Dr. Krewiecki and has been thinking about Eve. He sat us down and summarized what he knew about Eve and her situation to make sure he was on the same page. He said that the genetic testing that has already been done, was the very most basic. He said that testing was like looking at the earth from Skylab and being able to tell if Georgia was missing. But, you wouldn't be able to tell if a town or neighborhood was missing. His testing will be much more specific. He isn't ready to say that Eve is regressing (but isn't ruling it out). He said that if she were truly regressing, you'd probably see something on the second MRI. More importantly, you would also see comparable regression in her cognitive functioning, which is not the case. He said there are many possibilities for what is causing Eve's delay - many problems have the same presentation. I asked him if he thought we were doing the right thing by having this testing done - i.e., is this the next step? He told me what he noticed about Eve that is of concern and is unusual. When he stroked the bottom of her foot, instead of curling down, her toes curled up. Not only did they curl up, but they sort of pulsed that movement. So, instead jerking her foot back because it tickled, he fanned her toes up several times. Also, he watched her walking and said that her gait is not as fluid as it should be. She does step, but it is very jerky. He said there are definite issues with her lower extremities. Specifically, she appears to lock her knees to support her weight and stand. He asked us about her muscle tone (and we explained that she is both floppy and stiff). He is very scientific about his explanations and approach. So much so, that I forgot he was a Doctor and was surprised when he got out the stethoscope and the light to examine her eyes.

Tomorrow they will be taking blood, urine, muscle tissue, skin (from the side of the incision), and spinal fluid. It will take 8-12 weeks for results. He will send us the report that he sends to Dr. K, but said it will not be just test results, but explanation and interpretation as well. I am encouraged that he did not automatically think she was regressing and had a degenerative disease. Tomorrow will be a long day. Wish us luck.

getting ready

Well, this week is going to be busy. I start the new semester tomorrow, and we also have our next round of Dr appointments. First, Eve has a Resting Metabolic Rate test on Tuesday morning. She can't eat or drink anything (other than water) that morning and then they hook her up to an EKG and monitor her breathing/oxygen. This will tell them her minimum caloric requirements for resting. Then we have the appointment with Dr. Shoffner. The next day is the biopsy. It'll will be done under general anesthesia and it will be a very long day. Eve will have an incision of up to 2 inches on the middle of her thigh. They recommend that she does not go to daycare the next day because she will be "out of sorts." Fortunately, Jim's parents are coming out to help out. This way I can go to work and if she's really out of sorts, there will be lots of hands to keep her occupied and distracted.

Merry Christmas

Well, we are finally home from the holidays. We had our own family Christmas on the 21st (right before heading out to South Carolina). Eve got a dollhouse for Christmas.


Immediate infatuation. Hard to believe we tore her away so that we could leave to visit Grammie, Papa, Uncle Scott and Kirby.

We spent several days in SC, and had a great time. Papa made Eve a toy chest. It's totally amazing. We love homemade gifts. We chose a finish and will have a personal delivery soon. I'll take a picture of the finished product.



Then we got home and had visitors! Paul, Tossy, and Silas came for a short, but wonderful visit. It was so great to see them and to have them meet Eve. Eve was thrilled, too (although she doesn't look it in this picture).

We also went out to eat at the noodle house and Eve was so good! She actually sat in the restaurant highchair (with a jacket wadded up behind her back for support). I honestly don't remember the last time she sat in one of those wooden highchairs without screaming because she was scared. So that was a nice element to the night out. It's so fun to have visitors. You know our door is always open. Happy New Year!

visit to CHOP and Oma and Pop's house

Last night we got back from our trip to NJ. We flew up on Saturday and had a Christmas celebration with my parents and my brother, Trina, and Alex. It was so wonderful that Dave, Trina, and Alex were able to drive up from VA and visit. Otherwise, I am not sure if we'd have been able to see them until their new baby is born (March). My friend, Allison, and her husband (Jay) and son (Dylan) were able to come over, and the next night Jim's brother, Scott, came by for dinner.

Family portraits using the timer

Alex

Pop and Alex

Alex, Eve, and Oma - sweet harmony

Pop, Alex, and Eve

Dylan, checking out the train

Oma and Eve share a laugh


Dave and Jim "helping" Alex with some legos


We had a fabulous time and enjoyed ourselves immensely spending time with family and friends. But we had to adjust to the cold!! I think the whole trip was great with the exception of the return flight (an hour in the security line and numerous delays - we didn't walk in the door until 12:30am).

Tuesday was also exhausting. That was the day we went to CHOP. When we had originally set up this visit, we thought Eve had CP (that's what the neurologist was saying). But, as you know, that has come into question. Because of that, we did not see any docs on Tuesday because if we are not dealing with CP, why would we waste the time of the CP docs? Plus, some major strings were pulled to get us into there in the first place. So, instead, we saw a PT and OT who were pretty amazing. The examined Eve (as much as she allowed them - she still has a lot of fear of medical settings) and made some really great suggestions. The PT gave us some exercises to do with Eve, suggested we get better orthotics for her (hers are not optimal), and reminded us that she is still a 2 year old and is not the boss (even though we might be inclined to baby her because of her disabilities). He also recommended a hip xray (to be able to monitor her hip development) and suggested certain pieces of equipment. The OT then came in and within moments constructed 2 simple fabric strips, wound them around Eve's hands, fastened them with Velcro and it improved her thumb positioning. She also showed us several pieces of equipment and recommended that we try to order 4 pieces - a gate trainer (which is like a walker with a suspended seat), a stander (which straps Eve in so she can stand and help those hip sockets form), a positioning chair (that helps her sit using better posture), and a bath chair (that sort of looks like a mesh beach chair but will help us with baths).

Now, the first three pieces of equipment have been mentioned by the PT in GA, but it has been more casually mentioned and certainly not as aggressively (I'm not intending a negative connotation here). It is my understanding that the PT here has been more conservative about ordering the equipment because it is so very expensive and we don't truly know what's best for Eve yet. If the insurance company only allows one piece every 3 years, what if we use that allowance for something that is not the best for Eve. I talked to Eve's GA PT and she agreed that we can certainly order these things and see what happens. She also said that there is a equipment representative from Atlanta that makes house calls for fittings, ordering, etc. Basically, the process will take several months, but he comes out, measures Eve, we choose the exact equipment, and he does all the legwork. Then he gets back to us and tells us what insurance and medicaid are willing to pay and we make our decisions from there.

So, basically, we've got the CHOP people saying we should worry yet if the insurance companies say no - we need to ask them to find out. Eve needs assistance no matter what the diagnosis and prognosis is, so why drag our feet? Let's get moving on things that will make her more independent.

I am probably forgetting a lot of information here. But, really, that's the nutshell. It was extremely overwhelming. I just want to do what's best for my kid, and it's worrisome that I might have been overlooking things or losing time on strengthening her muscles and making her more independent. So all in all, it was a great visit. We are ready to move forward. Oh, and the appts with Shoffner are in 2 weeks. I got a letter today telling us where to go and when. It's going to be a long two days.

I hope you all have a fabulous Christmas and New Year if I don't get the opportunity to talk to you. Thank you for keeping tabs on what's been going on with Eve.

Ok, Ok. A certain someone has been bugging me to post pictures. Here you go. Let's start with the shootout between the new camera (Nikon D40 SLR) and the old point and shoot (Olympus Stylus). First, the point and shoot:


Not bad, but check out the Nikon!

If you look at her hair you can really see the depth in the Nikon. Oh, and here are some more shots of us messing around with the new camera....and Eve. I guess Jim was inspired to recreate the movie "Signs."




These next two shots are of this amazing sunset. It was way cooler in person.



Finally, Eve's favorite thing to do lately is stand on the ladder out back. Unfortunately, it's been getting dark so early we often end up doing this at dusk (although it looks darker here). But, it makes me happy because we put on her leg braces and she walks a bit to the ladder (with significant help). Oh, and this picture was taken 2 nights ago. Notice the short sleeves. That's right. December 10th and it was freaking hot. It's been about 77 or so each day this week. Are you kidding????

Dr. Shoffner on CNN

Dr. Shoffner was on CNN this weekend. There was a piece on mitochondrial disease on House Call with Dr. Gupta. This family searched for 14 months for a diagnosis for their son before Dr. Shoffner found the problem. This particular kid does not seem to have the same issues as Eve, but it was really neat to see Dr. Shoffner on TV talking about mitochondrial disease. How often is your Dr. on CNN?

Genetic testing scheduled!

I got through to Dr. Shoffner's office today and was able to get our appointments scheduled. Unfortunately, they are after the 1st of the year, but I kind of expected that to happen. Apparently, there were some scheduling issues that just popped up and prevented more appointments in December. No big deal - We would have met the out of network deductible at some point, and these appts will take us WAY WAY over that amount.

So, on January 8th, we have the 2 hour consult with Dr. Shoffner in Atlanta. The following morning we go back to Atlanta for the muscle biopsy (outpatient surgery that should last 45-60 minutes). Apparently we will get a 75 page report, and the Dr is ridiculously thorough. Other geneticists do not test for the amount of things that Shoffner will, nor give such a lengthy and detailed report. Hey, if she's going to get a chunk of her thigh taken out, let's make it count!

I asked how much the biopsy would cost. Are you sitting down? Seriously, are you sitting down? 15-20K. Yes, that's $15,000-$20,000. Wowee. But I don't think it's as bad as that makes it seem. Shoffner is out of network. So, after deductible, insurance pays 60%. Shoffner's office has contacted insurance and is asking them to pay 80% (in network rate) and citing medical necessity, etc. They are waiting on decision about that. So that brings it down to 4-8K out of pocket. Then I checked again to be sure they don't take a second insurance (because we do have medicaid now because of the Katie Beckett waiver). The office manager said they don't do secondary insurance, but they will give me all of the information to file it myself. Sooooo....that could mean I would pay much much much less. It's possible I would pay nothing. Possible. But I am not getting my hopes up. I refuse to put a price on my child's health/diagnosis.

Anyhow, that's the latest. I don't know how long it takes to get the results of the biopsy, but at least we know our next step is less than a month away. Plus, we still have CHOP coming up. Oh, and the new camera came!!! I feel so kick-ass using it. I'll have to have a shootout with the old and new camera and post the results.