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View Full Version : At this point I do not know what to think, or what to feel.


babysupermansmommy
04-05-2009, 11:07 PM
We took Anthony to his first LPA regional this past weekend.
We were able to get him in to see Dr. Kackrow from UCLA. She is one of the best genetists around ( so we have been told )
Anyways we were told Anthony had Jeunes in April of 06.
She and other specialist looked at his xrays and said they feel he does not have Jeuenes. That he has UPD 14. Like we told them, we have already been tested for that and it was negative. They all agreed then maybe either has to much of part of Chromosome 14 or is missing a peice of it. She is going tp pull his records from chla and do some research. She suggested doing some more testing.



she is also concerned about anthony being on the vent, because she said by his xrays his lungs have room. she asked how he does off the vent when he is unhooking himself and she was surprised that he does not desat. She suggested that we get into pulmo asap and ask for some trails off the vent, and a sleep study. which i had been planning on asking them anyways.

they did ask us if pulmo wanted to take him off the vent to see what happens that if he did not do well if we would be ready to let him go, we told her NO. we have come this far and we are no wear near ready to let him go.

she asked how his qaulity of life is, we told her other than the vent it is GREAT and she agreed. She said that we are willing to fight right along side with him.

at this point i dont know what to do....3 yrs we have thought he has jeunes and now we are pretty sure he doesnt. i dont think i can go threw this again, but at the same time i dont know if i can go on not knowing.

sorry if that was scrambled....at this point i dont know weather to scream or cry

Gretchen(Celia's mom)
04-06-2009, 12:07 AM
:hug:

WeAdoptKids
04-06-2009, 12:13 AM
Oh Man, I am sorry you are going through this stuff. It will be good to know what is going on, but I have to agree...after this long of thinking that you knew. Hang in there.

Roberta

JWorthington
04-06-2009, 03:54 AM
So sorry Stefanie, you don't need this confusion right now. Just continue to care for and love Anthony as you have always done - whatever the label, you are still going to treat him, and love him exactly the same:hug:

Julie x

hannahysabelle
04-06-2009, 06:41 AM
oh, am sorry that you're having this confusion...but hang in there. like they said, you're still going to love and care for Anthohy just the same, whatever the label is.:hug:
will pray for you, Anthony and for his doctors...may they get it right this time.
take care,

My little figther
04-06-2009, 07:57 AM
Sorry for this confusion - doctors sometimes have no clue but continue what you are doing just love hime for who he is regardless of the syndrome or the missing gene. Anthony is still the same little boy.
Michelle

alizesmom
04-06-2009, 09:57 AM
Not knowing is very difficult but you can handle it. I'm sure it has to be hard to have his diagnosis questioned this late but am hoping some good will come of it. I pray you can get him off of the vent and that they don't take long to find a new diagnosis. :hug: :hug: :hug: Karen

Kaylie
04-06-2009, 11:05 AM
wow, i can understand why you are saying what you are saying, it is alot to take in. It kinda worried me the part that said about coming off the vent and letting him go if he didnt do good (what were they trying to say).
Also you know all this time you thought Anthony had the syndrome they told you and now someone else is saying something else, who would know were to go or what to do, i agree with the rest, you will love him no matter what, the syndrome is just another piece of the puzzle. we Love Anthony here, we always are looking for news about that sweet sweet boy.. hang in there..

Ainsley's Mom
04-06-2009, 02:42 PM
Stefanie, I'm so sorry to hear about your experience with the doctors. I do hope that perhaps you'll find he doesn't need the vent and he'll do a whole lot better without it. I hope you can get in right away. Do let us know how that goes.

A syndrome is just a label for a set of conditions. Although sometimes treatment is guided based on the expectation for the syndrome. Since it is now clear they really don't know. I hope they can treat each condition and him as an individual, based on his needs. Maybe if you can approach it that way mentally, it won't be as hard on you if they are wrong again. I can only imagine how your mind must be reeling to accept that everything you thought is now unknown. :hug:

lynn
04-06-2009, 03:42 PM
Hope you can start trials to figure out how he does off the vent.
The only thing that changed is now you dont have a name for Anthony's condition... he is still the same precious little boy.

Mom2TwinsPlus1
04-06-2009, 04:28 PM
I am so sorry you are going through such a rough time. Wow that must be tough to feel wrongly dx all this time.

But you know what? you said it yourself he has a great quality of life. So ask yourself does it really matter what his disorder is called? He is here with you, doing well, pretty healthy overall and enjoying life. I mean sure get your answers but dont stress. Its just another name, it changes nothing.

I think getting of the vent sounds positive! I bet he would do well, if the xrays are showing he has room. that would be way cool and you should celebrate that!

Alethia
04-06-2009, 04:36 PM
HI Stef,

Wow, that's a lot to process. Having looked at the info about UPD 14, it might explain some of Anthony's self-harming tendencies. I've never heard of those with Jeune's, but then, everyone's different.

they did ask us if pulmo wanted to take him off the vent to see what happens that if he did not do well if we would be ready to let him go, we told her NO.
WTF??! :eek: That was a weird and hurtful thing to ask you. I think my jaw would have hit the floor hearing that one. I would quiz her a bit about what she meant by that comment next time you have contact with her. Maybe she was meaning something different from the way it came out? We can only hope so.

Ultimately, it doesn't really change the plan. You want to get Anthony off the vent and it sounds as if he has a better chance of getting off it with this diagnosis, doesn't it? That's GOT to be a good thing! :D It doesn't change that you need more answers about his slow gut transit and constipation. Give yourself some time to absorb this new information, and in the meantime, just carry on doing what you've been doing - being a mum and advocate for your boy. :hug:

Baby1107
04-06-2009, 06:57 PM
Stef - Is his Pulmo still with CHLA? I hope you can get a Sleep Study done. I generally find them VERY conservative. We had our Study last night and it was a 7 month wait for an appt. (But that is another thread.)

The statement she made about you fighting for him leads me to believe that the previous question on his vent use was just meaning to ask "will you fight for him no matter what happens with the vent trial?", sort of to get your frame of mind. I am sure some parents (people) might consider the vent to be too much and invasive to his quailty of life. I agree with you & her that he can have a great life with or without the vent. But for some people that might be the end of the line. I know lots of parents who whisper the word Trach like it is death sentance for their loved one. We all know better. I also think maybe she wanted to see how you might handle it if she was wrong and his lungs couldn't handle it and the vent was here to stay. kwim? :hug:

All this to say I am sorry things are muddled up again and I hope you can get some answers for Anthony soon.

JacobKaden
04-06-2009, 09:59 PM
Sorry to hear this latest news. I echo what everyone else says - it doesn't change who Anthony is - the main thing is that he gets the right treatment for whatever his DX is. Hugs.:hug:

Lizzykewlness
04-06-2009, 10:10 PM
HI Stef,

Wow, that's a lot to process. Having looked at the info about UPD 14, it might explain some of Anthony's self-harming tendencies. I've never heard of those with Jeune's, but then, everyone's different.


WTF??! :eek: That was a weird and hurtful thing to ask you. I think my jaw would have hit the floor hearing that one. I would quiz her a bit about what she meant by that comment next time you have contact with her. Maybe she was meaning something different from the way it came out? We can only hope so.

Ultimately, it doesn't really change the plan. You want to get Anthony off the vent and it sounds as if he has a better chance of getting off it with this diagnosis, doesn't it? That's GOT to be a good thing! :D It doesn't change that you need more answers about his slow gut transit and constipation. Give yourself some time to absorb this new information, and in the meantime, just carry on doing what you've been doing - being a mum and advocate for your boy. :hug:

Dito!!

Hope
04-06-2009, 11:23 PM
:hug: :hug:
Hope