Monday, February 2, 2009

A diagnosis


I so vividly remember a day in 10th grade Biology class where we were learning the different parts of the cell. My favorite parts were cute little dark organelles that sort of resembled kidney beans in the diagram. I liked them because the name was fun to say: Mitochondria. Little did I realize at that time how much impact those adorable organelles with the funny name would have on my life.

We received a package in the mail today from Dr. Shoffner's office. My heart started racing once I saw the package, as we have anxiously been awaiting it. I put a cartoon on for the girls and climbed on my bed and with the packet in my hands, I prayed that God would give us peace and strength regardless of what we were about to learn.

Nathan has mitochondrial disease.

There are 5 complexes in each mitochondrion in your body that convert oxygen and food into energy. Nathan's defect is in Complex I, and he also has abnormal decreased activity in the subunits of Complexes II and III.

Some info regarding mitochondrial disease taken from UMDF.org:

"Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection."


Even though we pretty much expected this diagnosis for Nathan, it was a lot harder to read on paper than I thought it would be. There is currently no cure for mito, so to know that our son will suffer from the harsh effects of this disease for the rest of his life is a tough pill to swallow. To know that it is a progressive and degenerative disease is heart-wrenching. But to know that our God is in control of his creation and his children is our comfort amidst our sorrow.

God has blessed Nathan with a spirit of determination unlike anything I have ever seen. He has also blessed him with the best smile and sweetest personality. God has blessed...more than we can relay in words. Nathan is doing very well right now, considering everything going on inside his body. Mitochondrial Disease is often referred to as the "Invisible Disease" because for many patients who are affected, you would never be able to tell anything was wrong with them by just looking at them. I can not tell you how many times people say "Well, he doesn't look like anything is wrong with him at all." They're right...he looks like a cute little one year old with a zest for life and a smile that melts your heart. That's my Nathan.

Even though it is difficult knowing Nathan has this tough disease, it is a big relief just knowing now. The past year has been so difficult, to say the least...but being in the non-diagnosis "gray area" has been a tough road in and of its own.

Thank you for your prayers over the past year. And please continue to keep Nathan in your prayers in the future...it will be a life-long journey for our little man fighting this disease. And pray for a cure for Mitochondrial Disease!

"Fear thou not; for I am with thee: be not dismayed; for I am thy God: I will strengthen thee; yea, I will help thee; yea I will uphold thee with the right hand of my righteousness." Isaiah 41:10

25 comments:

Beth on February 2, 2009 at 5:08 PM said...

Amber, We never stopped praying and will continue. May God continue to give you grace!

We enjoyed seeing y'all so much the other day! Your children are precious, Lillie now refers to Abby as her "Florida Friend".

Take Care,Beth

Other Mother on February 2, 2009 at 5:19 PM said...

We are continuing to pray for you all, and know your trust is in the Lord. He has blessed all of us who have contact with you, through your story and your faith. {{{Hugs}}}

Sarah in WA state said...

Longtime reader, sporadic commenter - but I have been and will continue to be praying for your sweet little Nathan! Still continuing to pray for complete and total healing this side of heaven....and for continued grace and strength for all of you as you walk this road.

In His Love,
Sarah in WA (mama to my own Emma & Abby) :)

Kelly Spezzano on February 2, 2009 at 5:50 PM said...

Amber many prayers pour out daily for Nate. I know it's bittersweet finally knowing the diagnosis, but as you so eloquently wrote, "But to know that our God is in control of his creation and his children is our comfort amidst our sorrow". For that we are thankful! May the God of all comfort and peace be with you all!

Love Kelly and Jim

Krischa on February 2, 2009 at 6:22 PM said...

I can't even imagine the sadness you are feeling right now. It is good to know because not knowing can drive you crazy. I am sorry to hear the news though. We will be praying for you and for a cure! He is such an adorable boy! God is in complete control!

Barb on February 2, 2009 at 6:24 PM said...

Amber, as you know I have been following your story. With this new diagnosis, you can take comfort in knowing that you can now take better measurements in caring for your little boy. We will all continue to pray for Nathan and your family. We are not going to stop now just because you have an answer to what he has. He's such a sweet little boy, who has touched many people around the world with that amazing smile. God bless you all. <3

Mama Kraus on February 2, 2009 at 8:39 PM said...

Amber, I have kept up with Nathan through your blog for the last year and will continue to do so. I am thankful that you have something definite to grasp onto as far as Nathan's diagnosis. Now we all have something very definite to pray for! Thanks for the information you have given thus far and I will continue to pray for the little man. He is a huge blessing to all around him with his huge determination.

AmyG on February 2, 2009 at 9:05 PM said...

Amber, like you, I'm glad you "know" yet sad, at the same time. I've enjoyed watching videos and seeing pictures of Nathan & your girls over the last year. He is one strong little man and you all will continue to be in my prayers.

Doris on February 2, 2009 at 9:08 PM said...

Continuing in prayer...

Owl of the Desert on February 2, 2009 at 9:41 PM said...

You, Nathan, and the whole family are in our prayers.

Bekah on February 2, 2009 at 10:07 PM said...

You are all in my prayers for peace, grace, strength, happiness and miracles.

Anonymous said...

Much love and many prayers are extended to your family in this recent diagnosis of my little great-great nephew, Nathan.
He's the most adorable little boy with the most adorable smile and, like you said, he's in God's hands, as are all of His children.
May He have continued mercy upon you all and bear you up with His grace to face anything you may have to endure in the future.
Our love and prayers to you all,
Aunt Ger & Uncle Travis

Lisa on February 3, 2009 at 7:45 AM said...

Amber: My daughter also has Complex I OXPHOS mitochondrial disease. She is 3 1/2 and we got her diagnosis when she was 17 months old. Its not an easy pill to swallow and its not an easy road, but if you have already gotten involved with the mito community, it is a very supportive community. If not, email me and I will send you some links and information. I will add Nathan to my prayers.

Lisa
Duluth, Georgia

Jill on February 3, 2009 at 8:12 AM said...

Dear Amber,

Please know that you and Jay, and especially little Nathan - and all the children, will be in our continued prayers.

"God's mercies are new every morning..."

With much love,
Jill

Michelle Garvin said...

While my heart is saddened by the diagnosis I know how just having an answer can ease the pain a bit...just a little. God is in control and has a plan and purpose for little Nate. My heart goes out to you as do my prayers.

Lisa on February 3, 2009 at 9:42 AM said...

my thoughts and prayers are with you all. Nathan is a beautiful boy and I know the Lord has great plans for him.

Jeremiah 29:11

Lisa Q

Michelle on February 3, 2009 at 11:45 AM said...

Even though you were expecting this dx, I'm still sorry to hear this news. Nathan continues to be in my prayers... and you're right - he has a smile that can light up the world! And we already know what a fighter he is!

erin f. on February 3, 2009 at 9:52 PM said...

We will keep Nathan and your entire family in our prayers. God bless.

Katie on February 4, 2009 at 8:06 AM said...

Wow, praise God for your sweet trust in Him. I am glad with you to have an answer and praise God for the strength and comfort He is giving and being in this for you. We just found out that Shaun's dad has a blood disorder that causes life-threatening clotting... Shaun has to be tested and if he has it, then our kids have to be tested... you inspire me to trust Him with the results. Thanks for your transparency, Amber.

Jill on February 4, 2009 at 9:33 AM said...

We continue to lift you all up in our prayers...

Dan, Lisa and Josiah said...

May the Lord continue to bless you! We've been praying for you all!

Our pastor, Eld. Shannon Whipp, often quotes a ten-yr-old "God is large and He's in charge."

Oh, that all of us would remember that. Come see us in TN when you can.

The Lord bless thee and keep thee . . .

Dana on February 4, 2009 at 11:40 AM said...

Praying for Nate and your family. May God continue to give you grace, peace and strength.

Anonymous said...

Love and Prayers!
Sister Dina

TracyVDM on February 8, 2009 at 5:19 PM said...

Praying for you and peace for your family!

Love,
Tracy

oh amanda on February 12, 2009 at 8:25 PM said...

Amber, I've been out of bloggy-land for a couple of days and just saw a link from Amy's blog.

*sigh* I understand that you're glad to have a diagnosis. But oh, I know it's hard, too.

I'm praying for you. And I'll be linking on my blog soon, too.

(((hugs))) to all of you!

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