Jeff and I decided to split this post up.  I’m going to update on Noah’s genetic appointment and he is going to do the thankful list.  He said he misses doing it!

Today Noah met with a physician who also a geneticist and a biochemist.  It was incredible to hear him talking about how our bodies work (or in some cases fail to work) at not only the cellular level but even the atomic level.  I just kept thinking about how fearfully and wonderfully made we are.  I can’t imagine knowing what that man knows and thinking that we happened by chance!  (It was interesting that he remarked on our children’s Biblical names and the Biblical characters for whom they are named after – I don’t know if he is a believer but he sure knew quite a bit about the Bible!)

The main purpose of this visit was to assess Noah’s progress or lack of progress and determine the likelihood that Noah has a mitochondrial defect.  The doctor felt that if he had to guess, he would say that Noah does have a mitochondrial defect of some kind.  Noah needs to go to Emory in Atlanta to have a large muscle biopsy done on his thigh in order to have an actual diagnosis.  The doctor will be calling Emory tomorrow and they will contact us to set this up.  We do not know yet when we will go or how long we will need to stay.

The doctor made the following observations about Noah:

1.  He seems to have some trouble managing a number of autonomic functions.  These are things we do automatically, like breathing.  The fact that Noah is often very hot when he should be chilly and can get hypothermic when he should be warm indicates that he doesn’t control his thermostat well.  His excessive sweating is another issue, as is the fact that his urinary output is often out of proportion to his hydration status.  He may also have difficulties controlling his heart rate.

2.  Noah has essentially stopped gaining weight.  Two weeks ago when he say his dietician, he had only gained 5 oz. in a week.  That was a dramatic change – since his g-tube was put in, he was gaining about a pound (or more) a week.   She increased his feeding by 2 mls per hour.  When Noah was weighed yesterday we found he had only gained 3 oz in the last 2 weeks.  That is not any significant gain at all.   I had told Jeff that Noah’s thighs were losing their new creases and that I didn’t think he was gaining weight anymore.  I can’t tell you how sorry I was to be right.  The genetic appt. took so long that we didn’t get to meet with the dietician yesterday.  I called his regular dietician and she is away until Monday.  The poor critter was throwing up a lot today so I know he didn’t gain any weight today!

3.  The fact that Noah isn’t gaining any weight in spite of more than adequate caloric intake means that he is burning calories at an inappropriate rate.  This could be the result of a mitochondrial defect.

4.  He is not sure if Noah’s non-purposeful movements I wrote about yesterday are intentional or not.  They could indicate a creatine problem -  either too much or too little creatine.  The genetics lab still has samples of Noah’s blood and urine, which the doctor will be using to run some more tests including tests for creatine problems.  (We were greatly relieved that the doctor had some spare samples in the lab and didn’t need to get any new ones!)

5.  Noah is a bit perplexing in that he has better muscle tone than one would expect.  Sometimes he has low tone (floppy) but his tone is usually good.  This is somewhat unusual for the types of problems Noah may have.

6.  It is very possible that Noah could be diagnosed with a mitochondrial defect of some sort but that we would not know any more as the result of that diagnosis.   I won’t go into all of the detailed science, but there are five mitochondrial complexes.  If he has a problem in one or more of those complexes, the doctor would need to see which protein is a problem.  Some complexes have 40 or more proteins.  If you can isolate the protein, then you have to look for a gene defect.  There are thousands of genes running the proteins that run the mitochondrial complexes.  (See what I mean about fearfully and wonderfully made??!!)  This can be like looking for a needle in a haystack.  If Noah was diagnosed with a specific mitochondrial disease, we would have a general prognosis based on other children who have the same defect.  It is more likely that we might learn that he has a “complex one” or “complex four” etc. defect but not know anything more specific.  In that case we would not have a prognosis in terms of disability, life expectancy, etc.  The doctor did say that the science is improving all of the time and that it is possible that if Noah only gets a general diagnosis that he might possibly get a more specific diagnosis at a later time.  It is also possible that Noah does not have a mitochondrial defect at all.

7.  The doctor was encouraging about the fact that we wanted to have Noah’s biopsy done at Emory.  We had the chance to have the biopsy done while he was already under general for his g-tube surgery, but the biopsy would have had to be frozen.  Going to Emory means another general anesthesia, but the testing will be done on a fresh sample.  This was a difficult decision to make and it was nice to be reassured that we had made the right choice.  He said that with testing this difficult and this important, it is essential to go with the best, state-of-the-art facility – which is Emory.

OK, I don’t like the fact that I wrote all of that as a numbered list.  I don’t want it to look like an anti-blessing list or something!  Please understand that I just wanted to be clear with all of this information.  We were sad when we left the office, but not really surprised.  Even though we were sad, we were very, very thankful that we can move ahead with what Noah needs.  Any information is a good thing right now, and even if we don’t get the answers we would have chosen, we are resting in the sovereignty of God Who knows which answers are really best.

On other fronts, Sarah did the best ever for her rabies shot today.  She was able to lie down on the table by herself without being held down!  We were so proud of her.  Matthew’s leg is healing incredibly well.  The doctor was stunned and kept saying that it shouldn’t be doing as well as it is, and that he was very surprised.  Matthew is still limited in his activities but doesn’t need crutches!  Timothy has been very sleepy for a couple of days and started throwing up tonight.  Please pray that it is just this bug that Jeff shared instead of something new and unique!!!  Timothy tends to get queasy with any sort of illness and I am hoping against hope that this isn't the stomach flu.

Jeff and his friend are hoping to work on the van some more tonight.  They have run into some unexpected difficulties – please pray that things will go smoothly.  I guess some bolts broke off in a hard-to reach place and they are having a fit getting them out.   We need the van on Sunday and are praying that it will be drivable by then!

That is all of our news, so I am going to turn this over to Mr. Rakish Goatee for now.

Hi everybody!!  It’s my turn to list a few “thankful things” before I head outside to work on the van….

1.  Friends with skills.  As Kate wrote earlier, a friend of the family is helping me fix our van.  Bobby has a much different approach to fixing vehicles than I do.  My method involves using military ordinance and then collecting a check from the insurance company.  Bobby, on the other hand, started pulling belts, tubes and various odd shaped items out from under our hood with the skill and enthusiasm of an overzealous surgeon performing exploratory surgery.  You can tell that he really enjoys this kind of thing.  I was amazed as I watched him use various tools to pull my engine apart one piece at a time.  He was “in the zone” as they say.  The jury is still out on whether or not this van will be resuscitated, but either way, it has been an interesting lesson and I am not nearly as intimidated by an automotive engine as I used to be.

2.  The generosity of others.  Every day we are receiving cards, emails, and sometimes little gifts from people to encourage us.  I am stunned and amazed at how many people are reading the blog and showing their support.  Along those lines, we received a wonderful gift from Robert and Christina in VA today.  Thank you so very much.

3.  Let’s take a quick look at the standings, shall we?  Hmmm… Boston Red Sox still in first place!!…. Yankess are in…. 3^rd place!…11 games out…so much for “Roger Clemens will save us”….  It’s not that I don’t like New York.  In fact I really enjoy watching the Mets because they are so good for so much less money….LOL!!  Yes, everything is right with the world today.

4.  Quiet moments.  After the meeting with the geneticist yesterday, I took Kate out for dinner.  It was so nice, after being away from home last week, and with so much we have had going on lately, just to sit quietly and have a nice, quiet meal together.  Well, it wasn’t completely quiet – Noah was with us, but it was relaxing and a good time to focus on each other instead of on the “To Do” list.  In a few weeks we will be having our 16^th anniversary.  Honestly, I don’t know what the next 16 years will bring, but as long as I have Kate with me….Bring It On!!  :o)