Liam Update and Some Thoughts About Blogging

We moved to a new city about 6 months ago.  After several years of Liam not running fever he's had three febrile illnesses since we got here.  In years past a temperature as low as 99 degrees F has caused Liam to have trouble swallowing and breathing.  During the first two illnesses he had recently he did not display his typical muscle weakness.  This is great, great news.  He did complain of leg pain and a headache, which is also typical for him anytime he's sick, but if he had any swallowing trouble it was mild and he never choked.  I did make sure that he ate low fat foods and had lots of simple carbs.  Since his muscle biopsy had showed lipid accumulations in the muscle our geneticist has expressed concern in the past that we never allow him to fast other than over night, and possibly not even go over night when ill.  They want him to have a constant supply of readily available carbs so that he does not burn fat in case he is having trouble breaking it down.  We really have no idea if that is totally necessary, but it doesn't hurt him to follow this protocol when ill, and based on past experiences this seems to help.

Anyway, with his third bout of illness he did display his typical muscle weakness, but it was milder in presentation.  I am so relieved to see his body handling acute illness better and it makes me hopeful for the future.  I do believe that he will always need to be careful with anesthesia and that he will need to always make sure that he doesn't fast too long or get dehydrated when he's sick.  I am thankful that he's doing so well and hope that he will just continue to improve as he ages. I hope that he will not become complacent due to his improvement, however.  My wish is that he will always take care of his body.

Of course we can never really say with utmost certainty what the future holds, but I am thankful for what we have right now.

We saw our neurologist a couple of days ago.  Her specialty is mitochondrial disease.  If you know us or have been following our blog you know that mito disease has been given to us as a possible diagnosis since Liam was around 15 months old (give or take a few months).  When we first saw this doctor a few years ago she was convinced that he had mito.  His muscle biopsy did show that his mitochondrial enzymes weren't working as well as they should, but beyond that there was nothing on the biopsy pointing to that disease.  So since that time Liam has been considered undiagnosed.  The doctor still suspects that it is something metabolic, based on past symptoms and the lipids in the muscle biopsy.

Since we still don't know what disease this is, our doctor ordered a new test called exome sequencing.  From what I understand, exomes are the part of human genomes most likely to show genetic changes responsible for disease expression.  I think I read that 85% of genetic disease is in the exome.  So this new test will look at Liam's exomes and hopefully lead to a diagnosis.  There is no guarantee that it will find anything, of course, but we will see what it says.  The actual test has not been done yet because we are waiting to see what the insurance will cover and how much we will have to pay.

If you've made it this far without your eyes glazing over, I wanted to say that I've been thinking a lot about public vs. private blogs.  It seems that most family blogs, especially those about sick children are either disappearing entirely or becoming private. As the parent of an undiagnosed child I really like reading other people's blogs.  I've learned so much about these types of diseases, doctors, treatments, etc.  Unfortunately some families have had problems with stalkers, identity theft and many other issues as a result of allowing anyone who has internet access to read their blog.  As a result these families have made their blogs only accessible to family and friends.  One can hardly fault them for doing so, but it makes it difficult for people like me who desperately wants to find others like us.

I've decided for now to keep my blog public, in hopes that someone will stumble across it and either recognize my child's symptoms as a particular disease, or else they will be able to use our experience to help their own child.

Asian Lettuce Wraps (No Soy)

My New Year's Resolution for 2012 is to exercize and eat more veggies.  So far so good.  I made my own version of asian lettuce wraps and let me tell you, they are amazing so I want to share them.

Disclaimer:  I don't really measure ingredients, sorry.

Ingredients:

For Chicken:

4 large chicken breasts
lemon juice
ginger
salt
pepper
garlic
orange zest

Veggies (all are fresh produce unless otherwise specified):
1 large carrot, julienned
2 stalks celery, chopped finely
2 mushrooms, chopped finely
half a cucumber, chopped
half a red bell pepper, chopped
1 can water chestnuts, drained and chopped

lettuce leaves (I used iceberg, but most varieties of lettuce work fine)

Garnish:
cilantro leaves
sliced red radish
sunflower seeds

Sauce:
2 T. lemon juice
salt
white pepper
ginger
2 T. peanut butter
1T. brown sugar

Cook the chicken breasts in a large skillet with a glug of lemon juice, some salt, pepper, and ginger to taste, and the zest of half of a small orange.

Once the chicken is cooked through, remove it from the pan.  While the chicken is cooling cook the carrots, celery, cucumber, peppers, mushrooms and water chestnuts in your skillet.  In order to get the veggies really fine I chopped them with a very handy little chopper from a company that I sell cooking tools from.  If you don't have one and would like one, let me know.

While those veggies are cooking use that same chopper to chop the cooked chicken and then add it to back to the pan with the veggies.  Mix those together, put the lid on and turn it on low.

Combine the sauce ingredients in a small microwave safe bowl and microwave for 30 seconds or until heated through.  Stir.

Your chicken filling for the wraps should look like the picture on the right.

To assemble lay out a clean piece of lettuce and put the chicken mixture in the middle.  Drizzle the peanut sauce on, sprinkle with sunflower seeds and add fresh cilantro and sliced radishes on top.  Now fold the lettuce around everything and eat. 

If you're following the paleo diet I think the only no-no would be the peanut sauce.  You could always sub with tahini sauce, paleo fish sauce or something like that instead.

Personalities Perfected in Him

The hubby and I went to a fabulous marriage meeting the other day.  We had a good time laughing and learning.

Something that I noticed during our discussions, however, really made me sad. I heard several people making assumptions and talking in absolutes about how Christians should be.  They were very critical and said things like, "People who act like 'this' do so because they have 'that' issue."

As Christians, we all want to be like Christ.  That's a good and noble ambition, but I think that it's also important to realize that God created us a with different personalities and talents and strengths.  These things make us different and allow us to function as the body of Christ.  We can't all be the arm, the leg or the head.

I think that many of us try to change our personalities to fit what we think a good Christian should be, and based on the comments that were made it's easy to see why we would do that.  While I know that it's a bit presumptuous to try to assume what God wants from us, I believe that he gave us our different personalities and preferences for a reason and he wants to use them for his glory.

What if we changed our perspective and expectations?

  Sure the meek are blessed, but through God's grace an arrogant person can become a confidant person.

We can turn stubbornness into perseverance.  Bossiness into leadership.  Maybe rebellion is just a twisted, ungodly form of independence.  What if that rebellion was changed?  That person would not be easily swayed by not so great influences. 

A control freak can be great at filing and organizing, making sure that everything is running smoothly.  Let's not assume that the  person has become that way as a result of something traumatic, or insecurity. While that may very well be the case, maybe God just made them with a type A personality.  An innate desire to take the reigns and get things done when others either don't want to or are incapable of doing so.

A know-it-all could make a great teacher, if only they were tweaked a little.

I think that with a little spit and polish, most of our not so desirable traits can be harnessed and used for good.

I love this verse:  And He said to me, “My grace is sufficient for you, for My strength is made perfect in weakness.” Therefore most gladly I will rather boast in my infirmities, that the power of Christ may rest upon me. II Corinthians 12:9.

Now, I realize that that verse can be interpreted various ways, but I don't think that I'm wrong in believing that it can mean that God can take our undesirable personality traits and mold them into Christlike traits.  His grace, his strength is made perfect in my weakness.  He made me this way for a reason, and he can take all my flaws, perfect them and use them for good!  For his glory.  Isn't that exciting?  I don't have to become someone that I'm not, I just have to become myself, perfected in him.

So lets take the lead from him.  Let's stop chiding people who do not embody what we believe to be a Jesus personality, and just love them in their weakness.  Let's not tell them, "Stop being so stubborn!".  Instead, let's pray that God will help them to change that stubbornness into perseverance.  Meet them where they're at.  Find them a ministry in the church that needs a persistent hand.

Thoughts?

Mayo Day 4

I blogged already about the most significant parts of day 4 on day 3.  That was the day that Dr. S. observed Liam after he had taken the new medication.

Liam loves his Nana

Day 4 was also the day we were heading home.  I have some random photos for your viewing pleasure.  I'm not a great photographer.  I am sharing my pictures with you simply to show you our life and our experiences.

We didn't spend much time at Silver Lake.  It was a bit cold for us and Liam was pretty tired.  We jumped out just long enough to snap a couple of pictures.  I really loved the geese.  From what I understand they live at the lake year round because it is a power plant lake and the water stays warm.

Silver Lake

Canada Geese

Mayo Day 3

We had to be over at St. Mary's Hospital early Wednesday morning for Liam's sedated EMG.  St. Mary's was established in the 1880's and spawned the Mayo Clinic system.  The staff was really great, but Liam still wasn't crazy about the procedure.  Poor guy.After the test we went back over to the clinic (it's about a mile away) to follow up with the doctor.  Turns out that we will be seeing Dr. S. again, not Dr. E.  Obviously this means that the EMG was NOT diagnostic for CMS. 

Dr. S. tells us what we already know.  The EMG was not diagnostic for CMS.  It showed some weakness in a few places, but they did not see any decrement (progressive weakness after repetitive stimulation) in the muscles that they tested.  What does this mean for us?  Dr. S. tells us that she spoke with Dr. E. about Liam and they feel that it's possible that the EMG didn't show what they were looking for because most of his weakness is bulbar.  That means that it is located in the muscles used for talking and swallowing.  His breathing muscles are also affected.  An EMG cannot test those muscles.  So because Liam's episodic muscle weakness is so "myasthenia-like", Dr. S. wants to go ahead and test his blood for the gene mutations known to cause two different congenital myasthenic syndromes.  If either mutation shows up in his blood, then he has the disease regardless of what the EMG showed or didn't show.

Dr. S. then asks us if we would be willing to try Liam on the medication that is typically used for most types of CMS.  She would like to have us start him on it that evening and come back to see her the next day after he's taken several doses.  Originally we were only scheduled to see the doctors on Tuesday and Wednesday.  We are set to fly back home on Thursday at 5:20 in the evening. 

So we explain to her that we are leaving tomorrow and we must drive back to the Minneapolis airport.  She says to please come back and see her at noon and she will have us out of here in plenty of time to make our flight.

Children's Waiting Room Mayo Building

Liam didn't get his first dose of Mestinon until almost 9 o'clock that evening.  After about 30 minutes I noticed that he had a lot of saliva in his mouth.  One of the side effects of this drug is increased salivation.  Nearly an hour after taking his first dose, his eyes suddenly looked very open and he was running around the room.

The next afternoon Dr. S. did the same tests that she had done the first day; checking all of his muscle strength, having him say a bunch of sounds, etc.  He has had 3 doses of Mestinon so far.  His eyes ARE more open, his speech is better, he is stronger.  Wow.  So does his response to the medication mean that we have a diagnosis after all?  Well, no.  Dr. S. explains that sometimes people with other neuromuscular diseases can sometimes temporarily respond to the medication but later return to their baseline.  She also says that for some strange reason some kids become temporarily stronger following anesthesia.  I've never heard that before, and neither have I seen that in Liam in the past.  Liam's symptoms following anesthesia in the past are typically him sleeping all week.  But we will see.

View from the Clinic overlooking University Square.  Liam says that the design on the street looks like a snake.

Mayo Day 2

Tuesday morning we arrived bright and early at the world renowned Mayo Clinic.  The buildings were amazing.  Everything was so beautiful.  I cannot say enough of the Mayo hospital system.  Before we even left our home state registration had been completed and an itinerary had been faxed to us with all of our tests and appointments scheduled.

The majority of the buildings downtown were connected by a series of sky bridges and underground tunnels.  The tunnel system was referred to as the Subway and it was full of restaurants and shops.  There were also grand pianos placed throughout the subway lobbies and employees, volunteers or guests would be playing as you walked by.  I also saw a few Mayo employees standing in the Subway ready to give directions to anyone who needed them.

So, on Tuesday morning Liam was scheduled for a sleep deprived EEG.  This is a test that measures brain activity using sensors stuck all over one's head.  We had to keep Liam up later than usual and wake him up earlier than usual.  Combine that with a child who spent a long day traveling the day before and has a general distaste of all things medical, and you have one really grumpy boy.  Thankfully this test is not a painful procedure and he went to sleep on his own, so he did not require sedation.  The test was normal.

He has red marks where the sensors were stuck to his head, and very tired eyes.

Immediately following the EEG, Liam had an ECG scheduled to check his heart.  Once again this was not a painful or invasive test.  It just required the quick application of electrodes to his chest.  It was completed in a matter of minutes and the tech gave me a copy of the results so that we could give them to the doctor when we saw her that afternoon.  The ECG was normal.

We ate at Mac's Cafe for lunch.  Mom and I shared an amazing sandwich called "The Big Easy" (not sure how that's Greek? Maybe it's just American, lol).  Liam was pretty stoked because they brought him a bowl full of whipped cream to put on his pancakes, but he ate it with a spoon instead.

The last appointment of the day was with a neuro, Dr. S.  She and Dr. E. are in charge of the CMS clinic.

Let me back up a minute.  We went all the way to Minnesota to test for one specific disease.  The Mayo Clinic is the only place in North America that can adequately test and treat for Congenital Myasthenic Syndrome.  Because I strongly suspected that Liam may be dealing with this disease I had written Mayo and they had gotten us all set up for testing.

So, after our fabulous lunch we went to see Dr. S.  We discuss Liam and Katherine's history in length.  Liam is scheduled for a muscle test early the next morning called an EMG.  This is the test typically used to diagnose CMS.  Dr. S. believes that if Liam has CMS, the EMG will be diagnostic for it.  We are supposed to see Dr. E. tomorrow afternoon after the EMG, however if the EMG is not indicative of CMS, we will not see him.  We will see Dr. S. again instead.

Mayo Trip Day 1

I don't remember why Liam was mad in this picture.  We were waiting to board our flight to Minneapolis/St. Paul.  Once we arrived there we got a car and drove to Rochester.  The flight was around 3 hours and the drive was 90 minutes.  I'm so thankful that my mom was able to go with Liam and I.  She has been with him through all of his health crises, so it only made sense for her to go with us.

I took lots of barn pictures on the drive to Rochester.  I like barns.  There's a giant corn water tower at Seneca.  Pretty funny.

I thought that Rochester was a really nice city and the countryside was just lovely.  It was pretty cool and rainy the whole time that we were there.  I'm not sure that I could survive the Winters up there.

We arrived in Rochester in the evening so we really just had time to check into our hotel, drive over to the clinic (so we would know exactly where to go the next morning), and eat dinner.

Look for Day 2 coming soon.