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Noradrenaline transporter deficiency and POTS


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Yes, Nina. You are correct. Linda and her sibling have been the subject of many journals.

Not to mention years ago when the docs from Vandy, I believe, came to her house and all her siblings had to stay there to be 'studied' for several days....wanted to be watched in their daily routines. It was SOMETHING.

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Guest Finrussak

question> does this stuff ( and other genetic deficiencies or problems) routinely get checked?? or do you have to be lucky enough to be in the right study pool for that month? I ask because when I mentioned to Dr Grubb that for me even tho we GUESS the Lyme etc plus the EDS 3 made it possible for me to now have dysauto of a few types how do we know I dont have any of the heretible things??? ( which may be fixable with targeted therapies). His answer was that the testing isnt routine and mostly Id have to be in the "right" research study. No one tests the long list of enzyme and transporter deficiencies just "in case">

For example...my youngest took part at age 3 ( 13 yrs ago) in a program screening for Gaucher and we found out by accident he was borderline which may have implications later on should sx arise...but had we not done this we would never know, AND who knows what else is lurking in the family genetic makeup!!!

Basically...when should we ASK for testing, from where and how??? It seems to me to just treat sx by guessing ( no matter how educated those are) is hit and miss.

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Linda has a pacemaker...and I'm not sure what meds she's been on. You have to keep in mind that they were diagnosed because their symptoms are somewhat different than ours; as I recall, one episode included cardiac arrest for Linda, who was thankfully on a plane full of cardiologists on their way to the NDRF conference.

This article may be of some use as well.



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