Thursday, April 29, 2010

Midwestern friends...

This week has been chocked full of all kinds of excitement, and I have barely gotten a moment to sit down and write about it all. On Monday night, we had an incredible visit with a family that has become so very near and dear to our hearts over the past almost 2 years. They are from the midwest and were down in our neck of the woods at Disney for a few days...thankfully, we live along the yellow brick road to the Magic Kingdom and are able to see friends from time to time making their way to and from that magical place.

Meet a group of kids who became fast friends during an evening adventure (hence the pjs on the redneck kids)...
Liz and I met on an online metabolic board a couple of summers ago. It was shortly after we had been introduced to the term "mitochondrial myopathy" that I found a message board with other families tackling the daily nuances of this strange disease. There was also another new comer on that forum whose story was eerily similar to ours. Her son, who was almost exactly a month old than Nathan, had almost identical symptoms to him and almost identical lab values as well. We started exchanging information and quickly became good friends. Emails turned into periodic phone calls, which turned into daily phone calls, which turned into a great friendship.
When the boys were babies, we would say "Whenever one of them is diagnosed, it will be like diagnosing both of them"...they were that similar. Nathan had a biopsy in November and Joseph had one just a couple of months later in January. When Nate's report came back diagnosing him with mito, I knew that Joseph had to have the same...they received their diagnosis just a short time later confirming what we had thought all along...our two boys who were so similar in so many ways did indeed have the same disease.
As the boys have gotten older, their symptoms have varied a little more, but they are still very similar in so many ways. Liz and I have talked at length before about how thankful we are that God has put us in each other's path through this journey, as we have someone to talk to about all the intricate details of research and lab work and symptoms and weird findings. We rejoice when good things happen to each other's family, and we are sorrowful through the tough things. We have helped each other through not only the daily struggles of raising children with mito, but with life struggles, the death of her mother to cancer, births of extended family, and routine daily life of merely being a wife and mother. She has been such a dear friend for the past couple of years, and it was an incredible delight to finally meet in person.
And like I said earlier, the kids absolutely hit it off from the start. Abby knew before hand that Joseph had also been diagnosed with mito, so she and Will, the oldest boy, struck up a conversation about the disease. I'm not sure what all was said...oh, to have been a fly on that wall at that moment, but I am so glad that they can talk about these kinds of things with others close to their age. They all ran around and played while Don, Liz, Jay and I sat around and laughed until our faces hurt. It was indeed a fun time, but entirely too short of a visit. We hope to make our way up to the midwest sometime in the near future to visit some more with these friends who we hold so dear to our hearts...

Tuesday, April 27, 2010

Grand Rounds...

It is with beyond exhaustion that I write this, but the past couple of days have been absolutely incredible days...

When I was pregnant with Abby, I used to pray with complete earnest and everything inside of me that the baby I was carrying would be, for lack of a better term, normal. I had college biology...I was fully aware of the mutations that could occur at the conception of life and as the life was forming in the womb of a woman. I remember leaving Biology Lab one day after learning the basics of genetic inheritance and seriously wondering how anyone had a child who was not significantly genetically altered in the way society claimed as "different". That lecture was brought to my mind numerous times when I was expecting Abby, and I would pray with all my might that she would be okay...

I think of this now and rejoice in the fact that our Lord, our Creator knows us more about us than we know ourselves.

We were later presented with something that I have always feared...something that I truly didn't think I would have been able to handle. But in hindsight, I wonder if I was so afraid of it because my heart had a feeling it was coming?? The Lord does amazing work to prepare you for things you sometimes don't expect. In essence, we had a child with some special medical needs, followed by a diagnosis that was chronic and potentially debilitating. God gave us and continues to supply the grace and measures to approach something that we once greatly feared.

Fast forward to today...

Today has been an incredible day. If you would have told me many years ago that I would someday be surrounded by and introducing to a group of people a doctor specializing in mitochondrial medicine, a doctor doing research in mitochondrial diseases, and the founder and CEO of an organization that is set out to promote research and education for the potential cure of a disease that you can barely pronounce...well, I would have definitely called you crazy. The disease: mitochondrial disease. The disease that affects our son. The disease the my 6 and 4 year old both talk about with ease and pronounce without a problem. Mitochondrial Disease...the disease their little brother has...

Today's Grand Rounds and family meeting at Shands was incredible. The morning meeting with the physicians was well attended and amazing. That was the meeting that made me realize that Dr. Cohen was one smart cookie...not that I had any doubts to begin with, but oh. my. word. that man is smart! He talked about some of his numerous case studies over the years and at length about the genetics of mito, and it was all so interesting and informative.

The family meeting was next, and it was very well attended...more people than we even expected! With hands and voice shaking like crazy, I tried my darndest to introduce each speaker. Dr. Cohen spoke, followed by the mito researcher we have at Shands, Dr. Stacpoole, followed by the CEO of UMDF, Chuck Mohan. It was an incredible meeting all around.

We have some exciting things happening in the state of Florida to bring awareness and education of this disease to light...I hope you join me in this excitement. I truly never knew I would be so excited about such a thing...

Friday, April 23, 2010

From a few weeks ago...

Tuesday, April 20, 2010

Inside the brain of a lunatic...

Scene: Morning. Central Florida. Concrete-style housing. Mother cleaning the kitchen. Preschool-aged girl making a mess of the other side of the kitchen so that mom gets exasperated when she has cleaned section A of kitchen only to learn that section B needs cleaning as well. Everyday occurrence. Makes mother one step closer to the crazy bin each day... Toddler boy in bed because he is Mr. cranky pants and is quarantine to the bed until he can change his attitude and rejoin making a mess of the house with his sister...

So, we heard two huge booms. And by "boom", you can not clearly understand that term unless you heard them yourself. I mean "concrete house shaking/heart palpitating" booms here. They were more than intense. They were insanely loud booms. And hence goes the thought process of a lunatic...

First, frozen in my tracks, I instantly thought of the woods next to our house. For the past year+, there have been neighborhood teens in and out of these woods. With neighborly curiosity, I peer out of my windows at them. My theory: "up to no goodness whatsoever"...specifically, a meth lab...right in our side yard of woods. Yep, that's my theory, and I'm stickin' to it.

So, in light of my "meth lab theory", I instantly thought the booms meant that it had totally exploded. Only, looking out my windows, I saw no smoke. Next thought...

Our neighbor has been having a really tough time. Not to go into much detail, the man has every right to be depressed. Second thought regarding the boom related to him in a horrible state. Wait, wait...

Somewhere about now, Emma asked to play outside. However, I banned her from the outdoors and locked every lock in every door in the house lest there be some mad man on the prowl shooting everyone in his path. Those were some loud booms...gunshot??? You can never be too careful. It's a dangerous world out there.

Okay, onto seemingly depressed fear that he had "taken matters into his own hands", I had to see if I could view any evidence of my suspicions. While climbing onto Nathan's top bunk of his bed (which was no small feat since the ladder was not up), I wondered what I should do if I saw anything indicative of foul play. Should I call 911? Should I call my husband? I've never been in such a situation. I reached the top bunk and sneakily peeked between the blinds at the neighbor's house to look for any clear signs...blood splatter, weapon, crazy man dancing in the backyard? Nothing. And that is when I saw it...the neighbor. He was...watching TV. Hmmmm.

Square one.

What could that horrific sound been? A tree? A car backfiring? A propane tank exploding? An airplane crashing into the next neighborhood? Yeah...that has to be it. I turned on the local news to see if any earth shattering news had made our local town's news...nothing...just the regular programming. Hmmmm.

Logging onto facebook gave me the answer as someone commented on the sonic boom being so loud. Googling "sonic boom" provided me with answers that the shuttle was entering our atmosphere this morning and would provide us with two sonic booms since we were in the shuttle's path home. Ohhhhhhhh...

I still think the exploding meth lab beside our house would have been a better story, but whatevah...

My husband says I'm nuts...I say that I am just a girl who has been tainted by society...

Monday, April 19, 2010

Stinker Dink

After winning against her mama and sister in a game of Uno, she quickly jumped up and down and proceeded to react like she was hot schtuff. Her daddy asked her if she was gloating, and she proudly and happily shook her head up and down. "No one has ever said you were less than honest, Emma!" proclaimed her father. Honesty...something we try so hard to instill in our children. But Emma...well, she is honest to a fault, it seems.
While getting ready for church yesterday morning, I heard a screech from the girls' bathroom...

Abby: OWWWW, that's hot! EMMA! Why did you flush the toilet?
Emma: Because I wanted you to get out of the shower.
I shudder to think what it will be like in 10 years...
The little guy is pretty puny tonight. He started with a fever and some vomiting yesterday afternoon, and he has kept his fever for a good portion of the day today as well. I have no idea what is wrong with him. His stomach is definitely slower, as we have seen an increase in reflux and decrease in eating. GI bug? Just a fever virus? We dunno. He responds this exact same way every single time he gets sick...stomach slow down, fever, throw up. Zofran has been incredible to keep his retching and vomiting at bay, but he keep complaining of his head, stomach and legs hurting...
The little dude is also a bit anemic again. We suspected this ever since we were coming home from Houston, and his lab work last week showed that he was indeed a little anemic and his iron stores were low once again. Hopefully adding one of his meds back in will help him with this. We also got word that a few of his lab values were off when we were in Houston...some that are usually off, but we do have a couple that are new. We will retest and figure the game plan to these new issues over the next month...always something. Always something.

Friday, April 16, 2010

Wordlittle Friday: Double Dose

"Simmin' wif Miss Holly":
Potty training, Ferrell style:

Wednesday, April 14, 2010

2 different species... least that is how it seems sometimes. Of course, I would be referring to my dear darling little girls. Almost exactly 2 years apart, spun from the same genetic background and raised in the same lunatic family, you would think that these two could be a bit more alike than they are. But in an effort to obviously keep their parents on their toes and constantly praying for advice, God has created these two sisters to be about as different as coconuts and butter beans. The first born...the natural born-pleaser...the one who lives life emotionally. This kid is always going and always wanting to learn. One of our daily statements to her is "Stop asking so many questions!"...which totally may sound harsh...until you spend a good 8 hours with her and start uttering those same words. She has such a thirst for knowledge and understanding on how human emotions work. Yet, she often has her own little idiosyncrasies that completely drive everyone around her batty...
Then there's the second one...I don't know how else to describe her other than "SHE'S A MESS!!" In every sense of the phrase, she's a total mess. She doesn't care as much about what others think about her, and her number one thought often seems to be whether she will be inconvenienced or not...or else it seems that way. But this kid is hilarious. She makes life so dang interesting! Case in point: during our weekly handshake at church on Sunday, she shook hands with a dear member in front of us and then immediately turned back to my direction and matter-of-factly uttered "You've got to be careful with this one coming up" before instantly turning around and shaking hands with an elderly and more delicate member of our church. I couldn't stop laughing...through the handshake and two days later, I laughed every single time I played that scenario in my head. This kid...she is a riot.
I informed Abby today that the student teacher who has been in their classroom nearly the entire year would be leaving after Friday, and she lost it. Like hyperventilation-style crying "lost it". Granted, it wasn't too long after we had just gotten out of watching "How to train your dragon" where she tried so desperately hard not to cry and failed miserably, so her emotions were a bit in limbo. I should have known better than to bring up the topic. While holding and rocking the tender-hearted kid, Emma walked up with her hands on her hips while shaking her head from side to side in dismay and uttered "Hmmm, someone needs a nap!" while pointing to her heartbroken sister.

Yes, I would say that these two are about as different as coconuts and butter beans. That's the only way to describe them.

Sunday, April 11, 2010

More of Houston...

Abby: How are there hospitals in Texas? Texas is really, really poor.
Me: Huh? Poor?
Abby: Yeah. You's that state with all those balls of string.
Me: Balls of string???
Abby: Yeah. The balls of string rolling around the town that's empty.
Me: (thinking...thinking...thinking...AHA!) Oh, you mean tumbleweeds?
Abby: Yeah! Tumbleweeds!
Me: You need to get out more, kid.

I do believe that I left off somewhere after Wednesday afternoon on our trip due west to the land of Houstonians. Nate slept a good portion of the afternoon that day and we headed a little further west to the city of Katy to spend the evening with another family dealing with the effects of mito.
This is the Pohla family. Nicholas, Nathan, and Daniel...all three with the exact same genetic defect of mito but completely different symptoms. That's how this disease works...strange little thing that it is.
Daniel is just a couple of weeks younger than Nate and is such a cutie! All of these boys were so sweet to share their toys with my little guy, who was totally in hog heaven with a house full of boy toys. While visiting, we were able to see Mr. Nicholas in action during his tae kwon do class. He had an upcoming belt testing coming up, and he was working so hard to break the board needed to pass the testing. I received a call Saturday night from the kiddo saying that he did indeed break the board and obtain the next level in belts. Way to go, Nicholas!Thursday morning was a very early day, as we needed to be at the hospital at 6:30 for Nate's MRI/MRS. After the work up, his procedure wasn't until 8:30, so that is quite a while awake without any food or drink, but the little guy did pretty well with it. We had an anesthesiologist who handles a good amount of the mito kids at CMHH, and she was absolutely incredible! Since she was more familiar with the way these kids handle anesthesia, she had tweaked her own little cocktail of meds to tailor to these kids. Mito patients are sometimes affected by anesthesia differently than others, and some anesthesia medications are toxic to the mitochondria themselves. It was such a relief to be where this was known and these "certain meds" were avoided. She also started Nate on a dextrose solution for the procedure as well to keep his body stable at all costs. Even though we have excellent care at our local hospital, being in a hospital that deals with these patients regularly is a huge difference. I'm so glad we had this testing performed in Houston.
It took quite a while for Nate to wake up from the procedures, but he woke up okay. After a late lunch, and a trip back to the hospital for some more blood work, we were able to spend a few minutes chatting with another mito family from the Dallas area who was admitted to CMHH that morning. It was so good to see this family, and the only hard thing was that we didn't have more time to catch up. Hopefully we can get on the same appointment schedule in the mito clinic and spend more time together in the future. Please pray for Ali and Alex during their hospital stay.

After this, we headed back west through Houston rush hour traffic (Thank God for HOV lanes!!) to spend the evening with the Knight family once again. Nate felt better that night than he had all week, and he had an absolute blast with Samuel and Lauren. They ran through the house back and forth and back and forth, and it was just a matter of time before the 84 feet of oxygen tubing (from both Nate's and Samuel's tubing) was wound together so tight that no one could move very far. Samuel came to me sometime in the evening with his tubing rather tight, so I tried to pull on it a bit for some slack...only, in pulling the tubing, I was reeling in a bewildered Nate on the other end. It was about that moment that we let the boys both have some "oxygen free" time. Samuel...oh, that boy completely stole my heart. The two of us hit it off from the start for some reason, and by the end, I was seriously contemplating the intricate details of how exactly I was going to be able to stuff him in my suitcase for the trip home. In fact, he and Nate had made a deal that Samuel would come home to Florida with me and Nathan would stay with his family in Texas. I came out of the bathroom at the end of our visit with Nate looking at me and saying "deal, mama. deal." He had agreed to the deal, and it was all settled between the two. The only problem I proposed to Samuel was that I didn't know how to access his central line, so it was probably a good idea that he stay with his mama who did indeed know this big detail in how to take care of the sweet guy.
I would have taken him in a heartbeat, though. He and his sister, Lauren...who reminds me so much of Emma that its not even funny. These three were totally the three musketeers all night and had an entire bundle of fun. We can't wait to come back and visit in 6 months! Friday morning brought about our return trip home. Nate woke in a good mood, and I couldn't help but smile as his little hand shook my shoulder saying "Dood Mornin' Mama!" over and over until I opened my eyes. The little guy sure did enjoy having someone to sleep beside him all back, which had knees crammed into it all week, could not necessarily say the same, but it was sweet to wake up to that precious high-pitched voice each morning.The return trip was fine. We were both exhausted and Nate was very, very pale the entire day. He once again slept through the duration of both flights home, which made the trip especially easy. I think I may call his ped tomorrow morning to see if we need to start the little guy on some iron again, as he seems to be having a tough time making the red blood cells needed to restore the blood he lost this past week. It was a great trip! We should be getting the results of the testing trickling in over the next month, but I am not expecting any results that are huge. We head back the third week in October for more visits in the mito clinic. In the meantime, we have a very busy few weeks and summer ahead of us.

Friday, April 9, 2010

Home again, Home again, Jiggety Jig.

So, the title gives it away...we are again indeed in the land of sunshine and mosquitos once again. Even though I loved our trip to Houston and our encounters with so many incredible people, there was such a sense of comfort when I was driving home from the airport and all I could see was familiar Florida land in my windows. I love Texas...don't get me wrong...I love the state, the people, the doctors who take care of my son and the people I call friends and family who live in that state, but seeing palm trees once again reminded me that my husband and my girls would be in my arms soon.

This trip was a great trip. I told Jay tonight that before we left for this trip, I had wondered if going to the mito clinic in Houston twice a year was worth it...worth that money, the time, the exhaustion, the pain. It was. It was, times a hundred. It was such a good trip, and I am once again thankful that God has opened this avenue up to us.

I will update on the rest of our trip soon (hopefully tomorrow). I have quite a few more pictures to go through and edit and some more fun stories to tell of the rest of our week in the great state of Texas. But for now...I need sleep. It was a great trip, but my body is quite weary and my mind needs to rest...

In the meantime, I came home to an email from someone affiliated with a local magazine wanting to do an interview with our family regarding Nathan and mito. I'll update with info when I receive it, but this is such exciting news for us. We have some incredible things happening in our state in regards to awareness for this disease!!

Wednesday, April 7, 2010

A little update and lots of pics

After our appt with Dr. K yesterday, we came back to the hotel where Nathan proceeded to sleep for a few hours in an attempt to catch up on his traveling sleep. The day was absolutely gorgeous, so when he woke, we decided to head a coupe of miles down the road to the Houston zoo. The zoo is literally right past the hospitals on hospital row, so not only did Nathan get a kick out of all of the animals, but he was equally amazed at the multiple helicopter landings and take-offs from the near-by hospitals. In this pic, I have circled Children's Memorial Hermann Hospital directly behind the little guy:
Nate really enjoyed the zoo. He was amazed at all the exotic animals and kept asking so many questions. When we arrived at this cool beast, his running commentary was "Oooh, a cow! Noooooo. Oh yah, it a cow. Noooooo. Mama, what IS dat?"
Late afternoon, we dined on Nate's favorite food in the entire! Seriously, if the world only provided pizza and cereal, Nafey boy would be happy as a pig or lark or any other living thing that seems to be happy all the time.
With our bellies full and our spirits still high, we decided to take a casual stroll through Hermann Park. This park is absolutely gorgeous and peaceful, and we thoroughly enjoyed the walk. We even gave a dollar to a man with some jacked-up teeth playing the saxophone. The entire afternoon was just so much fun and relaxing and exactly what we needed.
This morning, we had an appt with the immunologist/pulmonologist in the mito clinic. This turned out to be such a big appt, since Nathan has quite a few problems with breathing issues and his immune system. Dr. P was extremely interested in all of Nate's labs...she has recently written a grant to study and publish information about mitochondrial disorders and immunological problems, and she wants Nate in the study if she is able to get it funded. It takes so much energy to create the cells we need to keep our immune system working properly, which is why we see low IgG with Nate and problems with retaining titers. Dr. P said that she is seeing this trend in quite a few of their mito patients, and they really need to study the reasons why more and publish this for everyone.

She was also interested in Nathan's blood gases and sleep studies and said that it is completely evident that his body needs the oxygen supplementation we have been doing for the past few months. Again, she said that she has a few mito patients who are like Nate in this area and oxygen has been an incredible help to them as well. It all boils down to energy again...for some reason, these kids are breathing extremely shallow, thus needing to breathe faster and harder to get adequate oxygen levels in their blood. They usually keep their saturations normal for the most part, but only with an extreme difficulty in their work of breathing (retractions, tachypnea, etc). They are exhausting themselves by merely breathing, and this is causing elevated lactic acid levels as a by product. This has definitely been the case for Nathan in every aspect, which is why we have seen such a dramatic improvement with him on O2. He is able to conserve energy so much better with the help of oxygen supplementation, which helps his body and other organ systems work better.

She did say that Nathan's spleen was a bit enlarged, but his liver felt fine this time. She also gave him a pneumovax and a lab order for eons of blood for multiple tests. I really loved this doctor! We talked for a very long time, and she was so thorough and easy to talk with. I can not be more pleased with the mito clinic here and am so thankful that this avenue was opened up for us. After the appt, we had lunch with Samuel, Missy, and Samuel's grandmother at an amazing burger joint up the street. As always, it was so much fun talking with Missy and her mom, and Samuel stole my heart once again when he climbed up into my lap. He is truly the sweetest boy! Wish I could say the same about my little hooligan today...he was just plain rotten. In his defense, he was tired and had half his blood drained, but he was still rotten.
After another nap, we headed to spend the evening with another mito family. Nathan was in hog heaven as he walked into a house full of boy toys! It was such a fun evening! I'll post pics of that tomorrow. As for now, well, it is getting late and we have to be at the hospital at 6:30am for Nate's MRI/MRS. I've set the alarm to go off at 4:30am to pump him full of as much apple juice as I can before we head for the procedure (they really do take amazing precautions with the mito kids here, even down to modified fasting precautions). It will be a long day tomorrow, but I pray that the little man will do well.

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