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Saw genetisist at NYU today


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I went primarily to find out about gene mutation (CDKL5 Mutation

Long QT Syndrome) on genetic testing and to see if she could help us get in to see Dr. N.
She snickered at the gene mutation and didn't even address it. She thought it was a bad idea to be on antibiotics for bartonella. Did not like the idea of doing an IVIG, before doing a puncture lumbar to see what is going on. I was all for the PL, but then she kind of dismissed it when she heard we have a family history of OCD and possible tourettes. She said all my girls troubles are hereditary. I told her I am sure some of them are, but my family members don't hallucinate, don't stand on their head all night long and talk to imaginary friends all day. Their pupils don't dilate when bombarding thoughts get really bad either, and they don't flip out on all medications that they try. I told her my child is covered with red stretch marks. She said its weight gain. (my child is skinny)
When I got home, I looked at her business card. It says she is "Assistant Professor Clinical" what is that??? I was told I was seeing a genetisist!!
Oh well...I am taking a deep breath and moving on.

 

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That's horrible. I could write several books on all the awful doctors visits I've had, it never softens the blow or the anger or sadness the swells up inside of me. SO SORRY.

 

I am also waiting to hear from Dr. N. But like I posted before and after my mom talked to Fraeline for 2 hours, he's really backed up on just reviewing records alone. She said it could be month before he gets to my records and even then he only takes on certain cases. I was told he would get to my records by the end of this month and I sent them in 3 months ago and trust me, I'm literally dying from this stuff, so nobody is more desperate than me.

 

On the plus side, she said he will make other doctor recommendations if he can't take the patient on so at least it's not a dead end.

 

There are a lot of good pediatric doctors in this field, not so much for adults like myself. Duke has some fantastic doctors and if you email them, they will get right back to you - as they did with me. The only problem is they don't have adult doctors treating this stuff.

 

They send the adults to mayo, rochester - neuro-immunology where I also have a referral. There is also Univ. of Penn and Yale. I wish I could see Dalmau but he's moved to spain, his practice there seems pretty amazing.

 

Also, Dr. N being from syria and all that mess, I wonder how that has effected everything with his family...........

 

So sorry for your experience. I once had a cardiologist tell me that I just needed to exercise and I literally rarely leave my bed b/c I'm so fatigued.

 

Hmmmm, there are some other doctors at NYU doing this too. I just don't know how to find out, but I know there are.

 

I think they do want a lumbar puncture before doing ivig, it can be very telling though, some of my friends who finally got one were diagnosed and successfully treated for things that were not CFS (chronic fatigue syndrome) plus insurance will not cover unless you do. I really want to get the spinal tap and see what shows up, but finding a doctor who can do it and knows what to look for, that's another story.

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Best of luck. I'll keep you updated if I ever hear from NYU............................ But I keep thinking, there must be other doctors doing this, I'm trying to find them, coming up quite empty handed.

 

The auto-immune encephalitis assoc has recommendations so I've been trying to use that.

 

here's what their web-site says:

Pediatrics Adults
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I am so sorry you had this experience. What a waste of time and energy. Glad to see you aren't letting it discourage you. That kind of ego isn't worth a second thought. I agree with you.....move on. There is help out there. Good for you that you aren't letting this stop you or slow you down. What a great Mom!

 

Dedee

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Please, not Boston's Childrens Hospital. Their PANDAS naysaying doctors removed this child from her parents custody for treatment:

 

http://bostinno.streetwise.co/2012/10/12/elizabeth-wray-boston-childrens-hopsital-custody-battle-pandas-pans-disease/

 

There are other PANDAS friendly hospitals out there. Don't go to this one.

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Mass general has some outstanding pandas docs. I've been blown away by the compassionate and professional care my kids have been receiving from these very busy, highly sought after doctors.

 

There are some good docs at Boston children's that do great PANDAS despite the bad rap they got from them wray case. I spoke with a few of the people from the office and they are starting to treat PANDAS patients and insisted that the situation in the media was an isolated and complicated case. Still, I cancelled my appointment at children's when I got the appointment at mass general. We see psychiatrist, immunologist, infectious disease and ENT there and they all soecialize in PANDAS. The pandas clinic isn't officially open yet but I have a feeling we are already a part of it, or at least the pilot program for it.

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Best of luck. I'll keep you updated if I ever hear from NYU............................ But I keep thinking, there must be other doctors doing this, I'm trying to find them, coming up quite empty handed.

 

The auto-immune encephalitis assoc has recommendations so I've been trying to use that.

 

here's what their web-site says:

PediatricsAdults

STAY AWAY FROM BOSTON CHILDREN'S HOSPITAL (they reported one family to CPS, and took custody of the child putting her on the psych ward, and filling her with psychotropic meds...check out "Free Elizabeth Wray" on Facebook.) Also, CHOP told us that "PANDAS is voodoo" (while my DS was hospitalized with scarlet fever, 104 temp, chorea, tics, and already dx), and told me that my DS had conversion disorder (he was dx by 3 neurologists already, and had already had multiple IVIG's. I also know someone who went to Duke, and I know another person who works there, and Duke, overall does not understand PANS. Hospital of U. Penn, told me that PANS doesn't exist (when I took my older son there.)

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