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Re: DFD.ORG - SUPPORT OUR CALVINBALLS

Posted: Wed Oct 03, 2018 11:44 am
by Calvinball
Update for everyone. Figured I should since she is now a financial investment for you guys.

She had appointments with CHOP’s metabolic team and neurology on Monday.

The metabolic team thinks it is unlikely that it’s a metabolic disorder. They are doing some further testing for an enzyme deficiency but more just to rule it out.

Her neurologist is also testing for another known condition but thinks it is unlikely to be the culprit.

So they are enrolling her in a research study. That opens the door to get all her genetic data looked at more closely for specific areas. The big test she already had done is very comprehensive, but isn’t 100% comprehensive. She also has been presenting Auds as a case study at all the conferences she goes to, and she’s looking to maybe find other cases around the country/world that are similar. As she put it, “Audrey is on the edge of science. If this were five years ago we already would have said there was nothing further we could do.”

So treatment plan stays in effect. If she gets a fever we contact her neurologist and typically will be admitting her to the hospital.

Thanks again for all the support, I will keep posting updates here for anyone who is interested.

As a buddy said, “that’s some real life House shit.”


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DFD.ORG - SUPPORT OUR CALVINBALLS

Posted: Wed Oct 03, 2018 11:56 am
by SAWCE
Calvinball wrote: Wed Oct 03, 2018 11:44 am Update for everyone. Figured I should since she is now a financial investment for you guys.

She had appointments with CHOP’s metabolic team and neurology on Monday.

The metabolic team thinks it is unlikely that it’s a metabolic disorder. They are doing some further testing for an enzyme deficiency but more just to rule it out.

Her neurologist is also testing for another known condition but thinks it is unlikely to be the culprit.

So they are enrolling her in a research study. That opens the door to get all her genetic data looked at more closely for specific areas. The big test she already had done is very comprehensive, but isn’t 100% comprehensive. She also has been presenting Auds as a case study at all the conferences she goes to, and she’s looking to maybe find other cases around the country/world that are similar. As she put it, “Audrey is on the edge of science. If this were five years ago we already would have said there was nothing further we could do.”

So treatment plan stays in effect. If she gets a fever we contact her neurologist and typically will be admitting her to the hospital.

Thanks again for all the support, I will keep posting updates here for anyone who is interested.

As a buddy said, “that’s some real life House shit.”


Sent from the Beer Depository
Really sorry that you're all going through this, but it is cool to think that people in the future could benefit from this as they learn more about what's going on with her and how to treat it.

DFD.ORG - SUPPORT OUR CALVINBALLS

Posted: Wed Oct 03, 2018 12:04 pm
by Apex
Appreciate the updates! Hoping for the best for the little one.

DFD.ORG - SUPPORT OUR CALVINBALLS

Posted: Wed Oct 03, 2018 12:05 pm
by wap
SAWCE wrote: Wed Oct 03, 2018 11:56 am
Calvinball wrote: Wed Oct 03, 2018 11:44 am Update for everyone. Figured I should since she is now a financial investment for you guys.

She had appointments with CHOP’s metabolic team and neurology on Monday.

The metabolic team thinks it is unlikely that it’s a metabolic disorder. They are doing some further testing for an enzyme deficiency but more just to rule it out.

Her neurologist is also testing for another known condition but thinks it is unlikely to be the culprit.

So they are enrolling her in a research study. That opens the door to get all her genetic data looked at more closely for specific areas. The big test she already had done is very comprehensive, but isn’t 100% comprehensive. She also has been presenting Auds as a case study at all the conferences she goes to, and she’s looking to maybe find other cases around the country/world that are similar. As she put it, “Audrey is on the edge of science. If this were five years ago we already would have said there was nothing further we could do.”

So treatment plan stays in effect. If she gets a fever we contact her neurologist and typically will be admitting her to the hospital.

Thanks again for all the support, I will keep posting updates here for anyone who is interested.

As a buddy said, “that’s some real life House shit.”


Sent from the Beer Depository
Really sorry that you're all going through this, but it is cool to think that people in the future could benefit from this as they learn more about what's going on with her and how to treat it.
:dat:

From a purely :science: perspective it is really :neat: that she will be helping others down the road. Cold comfort for you guys, I know, but :nice: to see that her docs are really investing time into her condition. Continued good luck to her and her family.

DFD.ORG - SUPPORT OUR CALVINBALLS

Posted: Thu Nov 08, 2018 8:16 pm
by Johnny_P
Sorry I’m late to respond here. CHOP saved my life when I was an infant. They have some of the best doctors in the country. She’s in the best care that exists being there.

Hope you guys are getting through this ok. Going to the hospital every time there’s a fever must be hell, because kids get sick all the time.

Re: DFD.ORG - SUPPORT OUR CALVINBALLS

Posted: Sun Nov 11, 2018 8:58 am
by Calvinball
Johnny_P wrote:Sorry I’m late to respond here. CHOP saved my life when I was an infant. They have some of the best doctors in the country. She’s in the best care that exists being there.

Hope you guys are getting through this ok. Going to the hospital every time there’s a fever must be hell, because kids get sick all the time.
Yeah we’ve been down there twice since the major incident. Numerous panic attacks on the wife’s part.


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