Kay McClure: Well…Merry Christmas to us again. Not really!?!  Grayson was turned down for the 4th time from an undiagnosed program. Again, Grayson didn’t “fit” their program and should be seen again at a “tertiary” center…aka hospital, and be reevaluated after this ten year illness by a new group of doctors!!!???

REALLY????  They know he can’t travel due to his horrible, unknown, movement disorder and multiple other debilitating problems.  We were willing to pay for an air ambulance jet to get him to the program’s center.  We wanted to go there because that’s where his Whole Exome Sequencing was done three years ago, and we wanted their expertise.  Even though Grayson has many genetic mutations that their report says are damaging or possibly damaging, they told me they didn’t see any major problems.

Hummmmm…. He has many physical problems that seem to have a high chance of possibility in being related to his mutations.  He has two major metabolic mutations that are being studied in cancer cells…but this center saw nothing important.

He has the SCN 1A mutation for Dravet Syndrome…heat related seizures.  He has several muscular dystrophy mutations that might be related to his neuromuscular snapping and tearing inside his body.  But they didn’t think it was important to study.  And I could go on and on….

So, I asked them what disease should we pick out of the air in order for them to figure it out and be able to help a bunch of the same cases…and I could tell my undiagnosed friends.

The title of their dpt contradicts what it is they seem to want to do… Undiagnosed disease dpt that wants to figure out something they CAN figure out.  How would they determine which case they are going to help without even trying???

I’m so confused and disappointed in this system.  It is very scary.

So now…does anyone out there know of any doctors at a tertiary center that will see Grayson ?

Do we have to go to Europe??

HELP!!!!!

Kay…his mama

PS – I have so much information I can share if there is a doctor out there interested in helping us!