The Sun Shined & Birds Sang Today

I personally believe we developed language because of our deep inner need to complain. ~Jane Wagner

So today I will use my language to NOT complain. Now that's a switch.

Okay wait! I just remembered I do have something to complain about...but I will save it for another post so as to not tarnish this one. So instead, let me say I will use my language to NOT complain on THIS post. Yeah, that's better.

Pulmo Update

We had our Pulmonary Care Clinic appointment today. We arrived in the parking structure and the FIRST spot was just sitting there waiting for us. YAY! The appointment itself took three hours, but I am not complaining. I knew it would take about that long, so I brought a book to read. I brought Austin books to read. We were prepared. I also, in my quest to be truly amazing, brought a list of things we needed to discuss with Dr. Pulmo so as not to forget anything.

First, we saw the Nutritionist. Now she was complaining because Austin lost some weight. I carry him every day so this was not a huge complaint for me. But I did get why she was a bit worried. He actually is in the 25-50th percentile and is only 1lb less than his ideal weight for height...so it was not a huge deal. Since he grew she was at least happy about that.

We actually had a very in depth and productive conversation about his diet. I said I would like to add some Duocal to his thickened juice and start changing the juice to whole milk; she was actually all for it. To make my life that much easier she wrote a script for Simply Thick packets to be covered by insurance. We agreed to up his feeding volume and increase his rates. She wants to see if he can be moved to bolus feeds and ditch the pump. Yahoo! AND she agrees that I can try to move him from his specialized formula to a blended whole food diet. That was WAY too easy! No complaints from me.

Then, Dr. Pulmo agreed to reschedule the Sleep Study, agreed that *maybe* Austin can be weaned from O2 (after said Sleep Study) and doesn't think increased O2 will help with weight gain in his case. She also ordered Synagis for Winter, cultured the sniffley (if it is not a word I just made it up, sue me) stuff coming from his nose & trach, passed out a lovely Flu shot and ordered the Echo for Austin's heart. She didn't treat me like I was crazy and I actually made it out of the office without rolling my eyes once.

A few more exciting tidbits from today:

• We got the Echo scheduled for next week, the ONLY available spot in the entire month of October.
• My parking fee was only $5.00 instead of the usual $7.00 I had planned on.
• I didn't even complain that I had an hour drive home in traffic as the radio stations had all my favorite songs.
• When we got home some Enchiladas were waiting for us.

So yes folks, the birds were singing & the sun was shining for me today.


But wait, there's more...

Ped Update

I called Austin's Ped this morning and she jumped right on the "Let's get the Echo" bandwagon, for the little heart issue. She assured me it was probably nothing,"but with Austin, we leave no stone unturned." Now that is what I like to hear. She will be thrilled to know that Dr. Pulmo got it taken care of.


Seriously...there is MORE....


Genetics Update

So of course you remember that little conversation I had last week with the Genetics Counselor, right? Well, before the shit hit the fan, we were discussing possible new BOR testing and a previous genetic study done with another doctor at another local hospital about 20 years ago. It turns out, she tracked him down this week.

He is still there, he remembers our family (we are quite unforgettable) and was excited (as only a Genetics doctor could be) to learn about Austin. Today I reached his Clinic Coordinator and sure enough, Dr. G wants to "consult" on Austin's case and get NEW testing done. It appears that in the past 20 years, they have gone beyond the research phase and have new tests that may pinpoint (once and for all) the exact location of the mutation on Chromosome 8's EYA1 (Eyes Absent) gene that is responsible for all this.

While this will not change any medical treatment for Austin, it will help complete the puzzle.



More good stuff:

• They fit us in for the "consult" in less than 3 weeks. Do you know how long some people wait to see a Genetics doctor for testing?
  
• And last, but not least, they are fairly sure that Austin's Insurance will cover the testing as it is widely available now and past the research phase.

I cannot make this stuff up folks. So let's just say this Friday was 100% better than last Friday.
Let's see what tomorrow brings.

Thanks for peeking,