Hi there,
I had identical twin sons with TSC. One is 8 now, and my other son passed away when he was 5 (that's rare with TSC, I don't mean to scare you).
They were diagnosed at 1 month old with an MRI. A couple of years later they were formally diagnosed with a genetic test (blood-based) through Athena labs in Massachusetts. They're the only lab in the US that do TSC testing now (they bought the patents for those specific tests and genes). It's an expensive test, but often insurance will cover it. We had our boys tested (positive, of course), then ourselves (negative), and even were able to test our newest baby prenatally.
http://www.tsalliance.org/pages.aspx?content=588
Most doctors will need an MRI to diagnose TSC, from what I know. You need to see those characteristic tubers on the scan, though of course you can look for other signs (seizure/spasm patterns, depigmented areas, other skin signs, etc.). The MRI was very helpful, and ds gets a repeat one done every 12-18 months to monitor the growth of the tubers. Ds2, before he passed away, had two very (!) successful brain surgeries to remove certain tubers that were causing damaging seizures. Of course that wouldn't have been possible without the MRI. We've also gone through radioactive PET scans, grid placements, and all kinds of tests--our kiddos have/had a pretty severe case, though the good news is that, after the toddler period, everything has settled down nicely for a long while.
I don't check the SN forum as much anymore, so if you have any questions or if I can be of any help, please PM me.
) the e-mail of my friend who has a daughter with TSC. Many hugs to you.
