Thursday, August 28, 2008

A full day

One of the conversations I had with our pediatrician on Tuesday was how the Lord has prepared us for all of the difficult steps we have endured during Nathan's life. Each step has been heartbreaking and scary, but looking back, it had prepared us for the next step we faced.

Going through the pregnancy with the possibility of Nathan having Down syndrome prepared us for the realization that something was indeed wrong with our son..."wrong" doesn't quite seem to be the right word to use there, but I can't think of any other way to describe what I am trying to say (it has been a long day!). Going through Nate's hospitalization prepared us in knowing how the medical field works, made us less star-struck by medical professionals, and introduced us to a whole slew of new terms we needed to know. And going through the time when we thought Nathan had SMA made us enjoy TODAY with our children because we don't know how long God has planned for any of us to remain on this earth. Going through that extremely difficult time also prepared us for the future "scary sounding" tests Nathan would have...tests that would have stressed us out horribly if we hadn't already been brought down so low with the SMA diagnosis.

Today was a long day...the longest we have had so far in regards to doctor appointments. We left the house a little after 10:00 and dropped the girls off at a friends' house. We didn't get back home until 5:00 this evening. So, a LONG day. Nathan did great. He is the sweetest, happiest little thing, and regardless of how tired he is, he still makes a point to flirt with everyone who looks in his direction.

He doesn't have a diagnosis yet due to the new symptoms he has had in the past 2 months: unexplained fevers, tachycardia, more abnormal lab results. Because of these symptoms, he had to have some more of those "scary sounding" tests done today...more on that later.

Essentially, the neurologist has narrowed the cause of Nathan's problems to three things. He thinks that Nate either has 1. problems in his liver, 2. a bone marrow/blood disorder, or 3. dysfunction in the respiratory chain in his mitochondria (mitochondrial disease). Really, the symptoms and some blood work were pointing to mito (mitochondrial disease), and they still are for the most part, but we have to rule out the other issues first.

Today, Nathan had an ultrasound of his liver and some blood tests looking for cancer and tumors. We go back to the neurologist in 2 weeks to discuss these results and future tests/treatment. Due to his recent troubling lab work and fevers, the neurologist had to look into the possibility of Nathan having Hepatoblastoma. From how the neurologist presented this, we just needed to rule it out...but if he does indeed have this, we would need to start treatment immediately.

But due to Nathan's elevated pyruvate and periodic elevated lactic acid levels along with many other symptoms, most of the signs are pointing to mito. It looks like the next step with that is for him to have a muscle biopsy to check for dysfunction in his mitochondria and other muscle disease indicators. At the next visit, we will more than likely decide whether to go ahead with the muscle biopsy or wait to see what the hematologist/onc. suggests about his bone marrow.

A lot of information to absorb, huh? I am so thankful that Jay is able to take off work and come to these neuro appts with me...there is just so much info thrown at you in 30 minutes. Everytime we get back in the van, I say "Okay, tell me what you got from that appt" and he tells me everything he remembered from what was said.

With each visit, we have more and more respect and admiration for our neurologist and his nurse practitioner. They are wonderful people who are clearly some of the busiest people I have seen in a long time, yet they will still sit down and talk about daily life along with medical mumbo. It makes you feel more connected with them.

So, a little closer to a diagnosis. Not much, but at least a little bit. The neuro was extremely pleased with what all Nathan is able to do right now. He said that his muscle tone is a lot worst than his muscle weakness, and that is the reason he isn't behind on gross motor skills. That's a good thing! Well, not a good thing that he is hypotonic, but a good thing that his muscle weakness isn't too terrible.

Thank you for your emails and prayers. The Lord has blessed us exponentially through this journey, and I believe your prayers are being heard. Thank you.


Kayla on August 28, 2008 at 9:15 PM said...

You and Jay are doing a great job. I hope you have the chance to rest tonight together. I hope this is bringing you closer to an answer so that you can know the next steps to take. I'm thankful that Nathan is such a good baby and keeps being so sweet and good for all the tests and doctors. You are in my prayers.

Laura on August 28, 2008 at 9:27 PM said...

I'm so glad you've been blessed with good doctors. I'm sure it helps so much to feel like you can really talk to them.

Nathan's as handsome as ever. I love the banner on your blog. In my little opinion, he really "ties" your girls together in looks. I can see both of them in his face.

We miss you all and we're continuing to pray for your family daily.

dana on August 29, 2008 at 12:36 AM said...
This comment has been removed by the author.
dana on August 29, 2008 at 12:38 AM said...

sorry...there was a typo that would have driven me crazy and it wouldn't let me edit it. :)

Ok, that's more medical jargon than I've heard in my 2 years working in Hem/Onc. You'd think SOME of it would sound familiar, but I'm lost. I don't know how you retail all of that, let alone come here and spell it all out.

So overwhelming. I can't imagine having to interpret that overload of info.

Praying for a clear and treatable diagnosis and for light at the end of this ridiculously long tunnel.

dana on August 29, 2008 at 12:39 AM said...

retaiN!!! not retaiL!!!!

ugh. i went through all of that, and didn't even fix the typo.


Melodie said...

Big hugs amber.. it's a lot to take in and process. I'm sure you know, there is a huge spectrum of MITO and if that's what you're dealing with, I pray that Nate is on the mild end of the spectrum. By the way he's progressing with his motor skills that's a great sign. It sounds like you guys have a great team of Docs. Keeping your fam in my prayers :)
Melodie Lanstraat

amber on August 29, 2008 at 7:10 AM said...

Thanks everyone!

Dana: hepatoblastoma is a childhood liver cancer, so that may be why you all haven't dealt with it. And if he has a bone marrow disorder, it will be a pediatric disease as well. It truly is amazing how different medical stuff is for kids versus adults.

Melodie: we have been very suspicious of Mito for the past month because of his pyruvate/lactate levels along with everything else...and because mito is usually the culprit in complex cases like Nathan's. It is a scary unpredictable disease, but you are right...the severity of the disease is so broad. Nate was tested genetically for MELAS, MERFF, and NARD forms of mito and all was negative, thankfully. The rest needs to be tested with a muscle biopsy. The good thing is that if he has mito, he is healthy right now and progressing beautifully...that's a great sign!

Tammy said...

I am again amazed at your upbeat and godly attitude in the face of daunting circumstances. The Lord certainly has led you all of the way, as He does all His children who walk with him. He has given you and Jay incredible courage and strength and wisdom through the very low times you have had. My prayer is that He will continue to uphold you by His mighty power and to bless your children and especially Nathan with a miracle of good health and long life.
Your cuz,

Sarah Kate in WA state said...

Continuing to pray for your family and especially sweet little Nate here in WA state.

God Bless,

MJ on August 29, 2008 at 10:42 PM said...

You're so strong! Nathan is lucky to have such absolutely amazing parents, as are the girls.
You're in our thoughts and prayers, as always.

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