Saturday, October 17, 2009

Don't mess with Texas


I was born in Texas...Amarillo, to be exact. And even though I can't go back this far in my memory banks, I lived there for the first 2 years of my life. I have grandparents, uncles and aunts, third cousins removed, old and new friends all scattered throughout the vast land that is know as the Lonestar State. Its a state unlike any other...where the inhabitants beam with intense pride at the mere mention of the name: Texas. I have always had a soft spot in my heart for this state...that spot grew a bit larger and softer this week.

In Nathan's 20 months of life, we have never had a doctor come into the exam room and start playing with him...until yesterday. We met with Dr. Koenig yesterday morning, and she did just that. She won him over in the first few minutes, and in that instant, she won Jay and I over as well. She saw Nathan as a boy first...and then as a case. Amazing.
The appointment was incredible...it is just so nice to talk to a doctor who knows the intricate details of this disease. There was a lot of information covered in the appt, so I'll try to mention the highlights of the conversations. Dr. K told us that she completely agreed with Dr. Shoffner's assessment of Nathan's biopsy, and he definitely has deficiencies in his electron transport chain in his mitochondria. This is where it may get a little confusing...there are numerous diseases that can cause secondary mitochondrial dysfunction. Due to a number of abnormal labs that Nate has had in the past, Dr. K wanted to run quite a few other genetic tests to make sure he doesn't have a separate primary disease causing a secondary mitochondrial problem. It is one of those deals where Nathan has about half of the symptoms of these other diseases and we need to cover all of our bases by finishing the search for any thing that could be causing his mitochondria to fail. If these tests come back normal, we will assume that Nate has a defect in his mitochondria making it a primary mito disease, and wait for genetics to catch up so we can hopefully find the mutation some day.

For the not so confusing parts...she made Nate run up and down the halls, and he absolutely loved that (minus a couple of falls when he was getting tired). She was pretty interested in his wacky run (for those of you who have seen him run, you know what I mean) and video taped it to show their movement specialist. Her theory on his funny run was either due to overall muscle weakness or ataxia. Hopefully the movement specialist can help us figure that one out.Dr. K said that the only treatment for the mito kids who breathe like Nathan is oxygen supplementation, and we can not deny that since we have seen such a change in Nate while he has been on it. However, upon our request, she did say that it was okay to let him off the O2 some each day to be a little boy. Woohoo!! Basically though, it takes Nathan so much energy to breathe the way he does, so giving him help in that area helps his body as a whole with the energy demand. And with this disease, energy conservation is crucial to prolonging healthy days.

The best news that we may have received was that we could take a breather for a while on the talk of Nate potentially needed a g-tube. Yes, Nathan is having a really hard time gaining weight, and yes, he has been diagnosed with failure to thrive. But, Dr. K said that most all mito kids are smaller than other kids. It all boils down to energy again...it takes an enormous amount of energy for a body to actually grow. With a kid who has sick mitochondria that are not making enough energy, the body is not going to grow at a normal rate. Since Nate's caloric intake and nutritional labs are all normal, adding extra calories for growth may cause an additional stress on his mitochondria trying to use energy to process the large increase in calories. As long as Nathan is able to eat and drink adequately and his nutritional labs are fine, he shouldn't need a g-tube. What a HUGE weight lifted off our shoulders for the time being...I'm telling ya, this kid eats quite a lot and just can not gain weight, and it has been extremely stressful. Dr. K said that Nathan is just going to be small.She gave us a formal ER protocol letter, gave us a better idea on when he needs to be admitted for fluids (she's very conservative on this), upped his carnitine by quite a lot and added a couple of b-vitamins to his mito cocktail, and a LOT of info about mito to give to our pediatrician and other docs. She wants to see Nathan every 6 months. We go back the first week in April and will see Dr. K, have a visit with the immunologist in the mito clinic, and get another MRI performed on Nate. I think we are going to drive as a family for that trip since it is the week of Abby's spring break...kind of make a vacation of it and take the kids to the Houston Children's Museum and the zoo and whatever else.

Before we left the office, Nathan went to tell her goodbye and gave her a hug. She picked him up and wrapped her arms around him, and he laid his head on her shoulder. They stayed like that for quite a few seconds and she smiled and said "Oh, I just love it when they do this!" You can totally tell that she loves these kids with all of her heart, and this is something that is simply amazing to witness. It is humbling how God has directed our steps over the past couple of years. We are so very very thankful that God has led us to a doctor who not only knows more about this disease than anyone we have encountered, but who also seems to genuinely love her patients.We had dinner with a wonderful family who lives outside of Houston last night. This family has 3 boys (and the mom) who all have mito, and the mom and I have talked quite a few times. Her youngest is about 10 days younger than Nathan. It is always so great to talk to someone who knows exactly what you deal with each day. And it is also incredibly encouraging to see how relatively well her boys are doing right now. Sure, they all have their many individual issues stemming from this disease, but they are still just normal looking little boys who LOVE to be little boys! We look forward to seeing them again in April and meeting a few other families in that area.All in all, it was a wonderful trip. We miss the girls so much and can't wait to see them in the morning at church. Nathan is exhausted but doing well. We are tired as well, but really relieved and happy to have found someone who we know and trust can oversee all of Nathan's care from now on. The Lord has been merciful in providing this for us. And we are so thankful.

8 comments:

Missy on October 17, 2009 at 10:46 PM said...

Amber- I love the pictures! I wish I could take pics like you! I really am glad you saw Dr. K, she is simply amazing.

Missy

mollie on October 17, 2009 at 11:13 PM said...

I have been thinking of you all weekend. Sounds like it was a great experience. love to you all
:)

Meloody on October 17, 2009 at 11:16 PM said...

Awwww! The pics are adorable!! We so enjoyed getting to see you guys for dinner and look forward to seeing you when you come back! Hope your trip was uneventful and you get a good night's sleep tonight!!

Amber Schmidt on October 18, 2009 at 12:39 AM said...

I am just so happy for you that Dr. K is able to fill in the blanks for you. I am sure that is a huge relief! I am also glad that you get to put off the g-tube. Pain management on that surgery was hard for Kyleigh (which is odd considering Joe did the surgery completely NON-invasively and she only had three tiny scars). Just know that if the time ever comes for him to have the mic-key you know you have a friend in me! I will never regret that "tubie" and week like this, when we all have the flu and I can FORCE fluids into Ky avoiding the ER I KNOW we made the right decision!

Many MANY hugs and prayers :)

Anonymous said...

I am so glad you had a wonderful trip!! Hope to see ya soon!! Matthew has pink eye so we will not be seeing you in church this morning. The Ferrell family is always in our thoughts and prayers. We love you!! Beth, Brian and Matthew.

dawson20 on October 19, 2009 at 12:32 PM said...

ahh Im so jealous of you getting to meet Mel and the boys!!!!

So glad the appointment went well - we had so many questions put to rest with our records consult with Dr. K - she is one in a million!

Dani on October 19, 2009 at 11:02 PM said...

What a blessing! We are relieved to hear all the good news, and continue to pray for Nathan.

Karen on October 21, 2009 at 10:36 AM said...

Amber - I just read your post and when you talked about Nathan hugging the doctor... I just cried. Doctors like her are so rare and so wonderful... you are lucky you found her.

From a fellow Texan... you are special.

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