Thursday, February 19, 2009

Today's appt


We met with Nathan's neurologist again this morning...our first visit with any of the specialists since receiving the diagnosis. We did find out that Nathan does indeed have a defect in Complex III as well, which is what we had suspected. That makes his diagnosis: Mitochondrial Disease, OXPHOS deficiency in Complex I and Complex III.

Along with that, we received 2 new referrals...to cardiology and ophthalmology. Defects in these 2 complexes are notorious for causing heart and eye issues. Since he already has the tendency to be tachypneic, we want to keep an eye on his heart to make sure it isn't the culprit to the fast breathing. We also need to get routine check-ups on his eyes in order to detect any changes in the muscles around his eyes and eyesight changes.

Onto the other organs mito affects, we need to monitor his liver function from time to time since we already know that organ is affected. And we may potentially see a renal specialist in the future (we'll see him for sure if Nathan is accepted into the study) because of his past problems with fluid on his kidneys and his mildly elevated kidney-function labs.

No word on whether he was accepted into the study or not, but we should know more soon. Our neuro was very encouraging about this study (he is one of the docs participating in it). Regardless of if we do get it or not, Nathan is going to start on the mito cocktail of vitamins and supplements soon...if it's through the trial, we'll get an entire year's worth of these meds free. And since one of the supplements costs a pretty penny and is usually not covered by insurance, we are definitely hoping to be accepted into the trial.

I know that possible heart and eye and liver and kidney issues are always tough to read about, so I'll leave you with the mental image of Nathan walking around the livingroom right now, pausing every few minutes to dance to the music playing. It really is rather adorable. That is, until he comes up to me and tries to bite my shoulder (a new skill he has developed, to which I credit the nasty moods the ear infections have put him in lately) and I have to give him my stern mommy-face and "no-no" that always gets the pitiful pokey-lip in return. So on paper, all the information regarding this disease can be overwhelming at times, but in reality, Nathan is still the sweetest little stinker-dink of a boy imagineable. He's very much a rough and tough and smelly little boy, that's for sure. And yes, that is yet another rock in the kid's mouth...'cause I am totally mother of the year in the category of what not to let your kid put in his mouth.

6 comments:

Rodney Chandler on February 19, 2009 at 10:28 PM said...

Love ya'll. Can't wait to see you in April!

AmyG on February 20, 2009 at 9:25 AM said...

It's all overwhelming, for sure. Lots of continued prayers coming your way.

Tara on February 20, 2009 at 9:29 AM said...

Nathan looks so big in the picture, you know the one with the rock in his mouth! Ha! Love it and love the new page...adorable picture of the 3 kiddos on the header! Glad you had a good Dr. visit yesterday and we are still praying for ya'll and Nathan!

Jenny said...

We're still praying for you guys! FYI, diabetes insipidus is not what you think. It doesn't affect blood sugar at all. It causes the person to urinate ALL the time. Some type of kidney issue. It's not something we've ever dealt with so this is just from what I remember hearing. You might want to look it up in your free time (haha!). Glad the appt went well and I'll be praying Nate gets into the study!

Jenny

amber on February 20, 2009 at 10:31 AM said...

Thanks Jenny...you are right, I do need to look that up! Totally not up on that information yet.

Krischa on February 20, 2009 at 5:31 PM said...

Love the new header picture! So precious!

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