Happy Birthday Hosea!

He's 4!

Happy Birthday you crazy little man!

A new diagnosis

We saw the neurologist today. He had the results of the muscle biopsy. He did confirm that it is not a mitochondrial disease. Still good news! She does have a new diagnosis called congenital fiber-type disproportion. Click on link for extra details. Basically muscles are made up of 2 fiber types. Type 1 is fast twitch fibers and Type 2 is slow twitch. They do what one might think, the fast ones help with quick movements (i.e.. reaching out and grabbing something quickly) and the slow ones help with prolonged strength (i.e.. standing up for a prolonged period of time). Aggie has mostly quick Type 1 muscle fibers, hence the disproportion. So marathon running may not be a good activity for Aggie, but perhaps the 25 yard dash is still an option? :) The treatment is therapy, which we are doing. Also we will see yet another specialist, Cardiology. In less than 10% of patients with this disease the heart is affected. So it is necessary for us to get a "baseline" of Aggies heart and have someone follow her for that. The other person who she should be followed by for this new diagnosis is opthamology b/c eye weakness is common, but we already see them so we are good there. Glad to have a check in the box. Less than 10% of patients with this disease are from a genetic root. We will see the genetic Dr. in 6 months and see if this changes her course of action.

We also saw ENT this afternoon for a follow up on the ear tubes, they are doing fine.

So to recap on all our diagnosis:

Periventricular Leukomalisia- brain injury

Sensorineural hearing loss- moderate in both ears

Congenital fiber-type disproportion

Diagnosis are mostly helpful for insurance purposes, but also good for anticipating any future care that may need to be anticipated.

In the mean time we are looking forward to staying home for the holiday's and having a restful, yet fun time with our precious little family.

Genetics

We saw a new Dr. Thursday. A Genetics Dr. She was nice, she use to be a neurologist, but switched to Genetics. She is doubly helpful for us. She looked at Aggie's old MRI, which I had with me, always a hard thing for me to look at since much of her brain is missing or damaged. I'm no radiologist, but just looking at it you would naturally think, "that's not good". So I keep it stored away in my growing binder for times like Thursday, it usually takes me a few days to stop seeing IT and look at what is actually in front of me, a sweet, lovable cute little girl, a gift from the Lord.

The gist of what the genetics Dr. said was this, it doesn't look like she has a genetic disease based upon some past labs and the MRI and her "clinical appearance" aka. how she looks. She said, "What it looks like happened is her brain never fully developed and was damaged at some point in-utero. So her condition is "static", (not getting worse). The damage is done, now we just have to wait and see how she handles it." I was thankful for her frankness, no one has really just come out and said that, though it's been implied by logical deduction. This was bittersweet for me, b/c on one hand I though, "great it's not getting worse, and therapy can be helpful, and with God all things are possible." My other thought was, "what did I do during pregnancy to cause this?" This has been a big struggle for me this week. I know what God's word says in John 9:3 "It was not that this man sinned, or his parents, but that the works of God might be displayed in him." I believe God's word to be truth, but what I know is true doesn't always penetrate my heart at the same time it hits my brain. So I am praying in faith that God's works might be displayed in Aggie.

The plan for her is; she will need another MRI since it's been about a year since the first one, to look for changes. We will see the genetics lady again in 6 months, there may be more labs done at that time? I think for us the plan is, after we get this MRI done and see what it says we would like to start retreating from the Medical community as much as possible, and start living our lives apart from them, like most normal people do. We will still go for check-ups here and there, but would like a break from all the testing and such. We will still do therapy of course. Time will tell what the Lord has for Aggie Rae.

Muscle Biopsy

We got the results of the Muscle Biopsy today. Unfortunately the Nurse Practitioner that we saw was unable to explain them to me, but at least I was able to read them and what I could make of it was good news. I assume the Genetics Dr. we see tomorrow will be able to share more detail, and if not her, then we see the Neurologist on Monday, and he's the one who ordered it.

Soo... here is what I know. The muscle fibers were not "red ragged" fibers that would indicate the mitochondrial disease. They did show signs of "hypotonic muscles" or low tone in the muscle, which we already knew about Aggie. Physical strength is not likely to define her. The best news of all is that "it does not seem like a progressive problem". Wonderful News!!! Whatever IT is, it is not likely to get worse, which gives me great hope for Aggies future development as we continue therapy. I praise God for this wonderful news!!

The Trip Part 1

First we stopped at Grandpa Tim's house.

Then we headed to Grandma and Grandpoo's house. The kids got to play in the leaves, which is not something our Florida yard offers.

Then we headed to Chicago to celebrate Mike's youngest brothers navy boot camp graduation. Strong work Aaron!

Mike stole me away for a night on the town. We saw a play and had a nice dinner. What a sweet birthday gift. Thanks for watching the kids grand and great-grand parents.

Ears

Aggie's surgery went well. She officially has tubes in her ears. Which is suppose to help with decreasing the number of ear infections, she's had 8 or 9 since January, I lost count. She also had a repeat hearing test. It showed the right ear still has moderate loss, but the left ear may be a bit worse and they are considering putting an aid on that ear as well. She will need to do another little test in the office to determine this.

She handled it all in true Aggie style, with grace. She was a little fussy the day of, and woke once in the night, but a little tylenol and snuggles helped with that.

She is her sweet spunky self today, so thankful for that. I am also very grateful to not have any more scheduled surgeries on the books.

Next week we will head to Birmingham to the University of Alabama to see a genetics Dr. On Thursday, not sure of what date that is off hand. I think we have 2 other appointments also, but i'm not getting up to look in the planner to see what they are right now.

I'm looking forward to some rest tonight.

Phew, we made it!

We made it home tonight.

I had an eventful 30th birthday on a "long van ride", 9 hours about.

Soo thankful to be home.

Tomorrow Aggie get's tubes in her ears, a little outpatient procedure.

The 11th will be Hosea's Birthday Party, a bit early since he was born on the 28th, but it's really the best weekend to do it. He can't wait, and he won't have to.

After I get my feet under me, i'll have to post some pic's of our trip, but there are a few missing as the camera decided to have a memory problem and didn't save most of the chicago ones, then we had a temporary loss of the camera. Then we found it, and took some pictures on a re-formatted memory card.

It was so lovely to get to see some colorful trees on our trip North!

Ohio-Chicago

Friends, we are traveling again.

Aggie's tear duct probing on monday went well. She's a trooper!

We hit the road after the procedure headed to OH. We went to see Mike's dad, then to see his Mom, Ron and family. Now we are in Chicago, his youngest brother graduated from Navy boot camp today. I'm standing my post in the hotel room with my little people. We did head to the pool this morning and the park this afternoon.

Last night Mike was sweet to buy us tickets to a play for a little early birthday gift for me. We went out to eat at a nice restaurant afterwards The Grand Lux Cafe. It was a lovely time for just the two of us.