Wednesday, February 4, 2009

A mish-mash of the past couple of days

The many different emotions we have had over the past couple of days are exhausting. On one hand, it is such a huge relief to know what we are dealing know that we have found the source to why Nathan has had so many systemic problems in his short life. On the other hand, we are gripped by intense sadness and fear at random times throughout the day when we think about the reality of this disease. I once again feel like I can't quite get a deep breath...there's such a heaviness on my chest at times throughout the day. And then I feel the tender touch of a tiny hand on my shoulder as my little guy braces himself trying to walk from one side of the room to the other.
The report and CD of labs we received from Dr. Shoffner are extremely detailed, so it is taking a bit of time piecing everything together. There were significant abnormalities in his mitochondria function that showed a definite defect in Complex I...but there was also abnormalities in the subunits of Complexes II and III, so they are running more tests on his muscle to see if there is an additional defect in Complex III, if I am understanding it all right. This does not change the nature of the disease or the severity, but I believe it might give more info on where to look for the genetic mutation.

Quite a few of Nathan's labs were abnormal as well. His acylcarnitine labs showed elevations in medium and long chains, which are usually indicative of fatty acid oxidation disorders (which can be secondary to mitochondrial diseases sometimes), but his FOD test came back normal. This definitely opens up a whole slew of questions on why he isn't processing these fatty acids correctly...of which we will address (with countless other questions) at our upcoming neurology appt.
A few little facts about mito: it is a relatively new disease. The first pediatric-onset cases were not identified until the 1980's (per UMDF). Mitochondrial diseases are extremely difficult to diagnose because no two mito kids present with the same symptoms, and there are not many doctors at all that are familiar with the presentations of this disease. Sometimes it takes families years and years to get a correct diagnosis, which can come either from gene sequencing (though this is limited to the genes they currently know create this disease and are finding more and more every year) or a muscle biopsy. I tell you all of this to set the stage for you to see how much God has blessed us to receive this diagnosis so early in Nathan's life. Getting a mito diagnosis within a year of the start of testing is somewhat rare. We have been blessed with a very knowledgable and eager neurologist who never gave up on helping us search for an answer. We were blessed in that Nathan's case was taken on by the leading mitochondrial disease neurogeneticist in the nation (Dr. Shoffner), and God prepared our minds that the muscle biopsy path was what we needed to do. Months ago, I was directed to an online medical forum made up of about 20 or so mothers of children with mitochondrial and metabolic diseases. They have been a wealth of information and support over these past few months, and I am truly thankful for these women and their experiences and help. It is simply amazing the support we have had over the past couple of days...not only from friends and family, but from the medical team we have grown to know and love through this long journey. Our physical therapist and some of our favorite gals from the office have been such a help and strength. I had a really good long talk with our pediatrician who said that she would help us through this journey physically, but the best she could do for us was pray for us. She said that she has been praying for us all year and will continue. Oh, what a comfort to know that our doctors are praying for their patients! About a year ago, we made the plans to spend a week at Disney during one of Jay's yearly meetings he has to attend. The meeting is actually going to be held at the Disney Hilton, so the kids and I decided that if he is already going to have a room down there, we might as well go and enjoy some time at Disney. So, we will be in Orlando all week next couldn't have come at a better time! My mom is flying down to help me out with the kids at the parks while Jay is at meetings all day. This is the girls' birthday present from us, and they couldn't be more excited. It is supposed to be absolutely gorgeous: sunny and 78 most every day...oh, it will be so good to just get away and spend some time in the magical land of Disney for a few days.

When we get back from Disney, we have a whirlwind few weeks of numerous doctor visits. Nathan will be put on what is called the "mito cocktail", which is a concoction of supplements that could potentially slow the progression of this disease (there's no concrete evidence that supports this, but its worth a try) and help his mitochondria be able to produce more energy. Oh, here's a couple of more instances in God's amazing work: the only pharmacist in our entire city who compounds medications is our neighbor. And we have some researchers (not practicing physicians...just researchers) in mitochondrial disease here at the University of Florida who are currently doing studies on drugs that can help mitochondrial dysfunction. Since we are in a hub for mitochondrial research, we may be able to participate in upcoming clinical trials as they come available. We'll know more after his visit in a couple of weeks.
Phew, a lot to absorb, huh? We are doing well. Sad at times, but I can not express how good it is for me to get some of these thoughts swarming in my head down in writing. And at the end of the day, our little Nateman is still just a sweetheart of a kid who loves rocks, big trucks, doggies, his sisters, his paci, and the snuggles from him mama and daddy. He's one special kiddo, that's for sure.
(All of these pictures were from his one year old shoot I did last Sunday afternoon. Gosh, it is so hard to believe he is about to be a year old!!!)


Anonymous said...

I hope you have a wonderful time at Disney!! A very much needed vacation. We love you and pray for you daily.

Beth, Brian and Matthew

AmyG on February 4, 2009 at 8:18 PM said...

Adorable pictures of little Nathan! Praying for you all! Enjoy your trip to Disney.

(I wanted to let you know I sent you an email to the address on your profile.)

Anonymous said...

As always, I am thinking and praying for you. Nathan is the cutest little thing. I just want to hug him so tight. I really hope to me him (and you) some day. Have a great time at Disney!


Jill on February 4, 2009 at 9:03 PM said...

I'm so thankful to see this report. God's very close felt presence is what I've been praying for, for you, as you get a handle on the "new" reality.

Enjoy your Disney adventures... I thought it was about time for your big trip!

We're heading the opposite way- to MI- tomorrow!
Love you guys,

Anonymous said...

We love you guys so much. You have been on my thoughts so much lately. If there is anything you need just let me know. We will continue to pray for your family and Nathan! Love ya, Amanda McCook

Michelle Garvin said...

God's timing always amazes me! Have a great time in Disney! Praying.

W. Latane Barton on February 5, 2009 at 9:35 AM said...

Here's hoping that the Disney trip is wonderful and full of fun. You two need a moments break from all the trials you have been through. I will continue to pray for Nathan and for his sweet and caring parents.

skye on February 5, 2009 at 6:11 PM said...

I hope you have a fabulous time next week - a well deserved vacation, for sure!

I cannot believe he is almost ONE. What a year...thankfully, this next year won't be so full of needle sticks & testing. That's a wonderful thing.

Hang in there. Praying for you all.

Dana on February 5, 2009 at 10:02 PM said...

The photos are precious....I hope you guys have fun at Disney!

oh amanda on February 12, 2009 at 8:28 PM said...

Just praying! Praying! I see God's hand in your life!

Love you guys!

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