I'll start w/ his CF. Well he'd been sick for several weeks, and it seemed at first like it was mainly allergies but then the cough had increased, and congestion followed etc. He'd been bringing up a ton of gunk from his lungs, so we thought at least he'll get a good speutum sample, and we could find out if he got psedumonus again, which is what we've been afraid of.
So ofcorse, we get there~ leave at 5am, had to take a detour because of a accident on I-10, barely made it there exactly at 8am. Well he isn't coughing hardly at all~ which is a blessing yes, but we really needed to know if he has something or not incase he is needing to get on antibiotic's. So he hacks up a huge thing, I go to get a container for his culture and he spits it out! Ugh. I litterally felt like diving into the trash can after it! The one he ends up giving to them is so flippin' tiny but the doctor said it would be ok. At first she was even going to still do a throat culture to make sure but then he got out a tiny little peaice smaller than a pea & w/ regular spit in it too but she said there was green stuff in there so it was fine. Hoping so. Then ofcorse once we're home the next day he is coughing a bazillion times worse, and bringing up stuff that is bigger than the entire rest of the few weeks since all this started. Sounds about right...that it's what would happen! Isn't that always how it goes?
Over all his PFT's were ok, better than we thought they would be, he was down on his weight but he'd also grown taller by 1/2 inch so I wasn't worried about that. We just have to keep an eye on it. They ordered blood work on his vitamin D, to see if that's come up since we've been doing more supplements.
We were very happy with his ENT doctor's report, no visible polyps~ PRIASE GOD~ and he was able to cut down on his bunesinie in 1/2 so that was awesome. Happy-happy-happy about that!
Now for the genetic's. It was Dr. Aleck, and another doctor from Boston that is moving here. Dr. James. Very nice men, and we did all the prior questions about family history etc. They examined him and both doctors thought he has charicteristic's of something claled Eher's Dialos (sp?) Syndrome Type 3. He doesn't have the velvety skin or over elasitisity on his skin, but all the other parts, the excessive pain and easy brusing, weak joints from the defective connective tissues is their suspision but the doctor said he didn't want to make a definative diagnosis yet & also that there is not gene mapping for it so it's more of wait and see.
They are more concerned about his CF though so Dr. Aleck wanted to run a Chromosone Micro Analysis regarding his cf mutations (espically the one that was found through gross deleation) to see if there are more deleations that could be indicating why he's having further complications that seem to not be as related to 'normal CF' (if there is such a thing.)
He said it would take about 3 weeks and he'd call us, and we didnt' have to come back in unless there's something else we'd need to discuss. So just pray...pray that if there is something to be found that would help us/ his doctors and even himself to understand more of what is happening with his body or more of why that we could find out. If there isn't and this is just " how he is" then fine, I just wanted to know and I was so glad Pat was there and able to say with me, that yes he collapses/falls when there's not other things that could possibly atribute to it and yes he is covered w/ tiny light brown bruises that come and go constantly. It just helped and it helped me not feel so neuorotic to have the doctors expressing their concerns about it as well. It's been going on since he was 3 so it just is a bit of a laod off, like at least someone else might be able to understand.
I just love him so much and I don't want him to have to go through this, I know he does/will and it just is almost unbearable sometimes and now he's starting to bring it up more. He's almost 9, and when he was younger he didn't question things so much. He just did it...now he's starting to make comments like "I don't like my breathing treatments" or "I don't want to have cf" the ones that get me the most are "I don't have any friends" He knows he has friends, but he can't play w/ them to much and no one lives really close where they can come over often etc. His friends are several miles a way. So I am working on a little plan...