not sure where you live, but if you have a rare disease you will probably be best served going to a place that has a team of doctors/researchers specializing in TS.
I would think that if it took 25 years to get diagnosed, you (luckily) have a mild case…usually patients present in childhood with neurologic symptoms (such as seizures, mental retardation, etc) and the skin findings (ash leaf spots, angiofibromas, etc).
The tumor associated with your nail is probably a subungual fibroma.
The tumors on your kidneys are angiomyolipomas (AML)…somewhat common in the general population and usually found incidentally on CT scan, etc…but definitely very common in TS patients. when they are less than 4 cm they can be monitored, but when larger they are at risk of bleeding, etc. Depending on the exact location/size/appearance of your AMLs, you could potentially undergo catheter directed embolization (minimally invasive way of “shutting down the blood supply” and shrinking the tumor using a catheter going in the artery in your groin) and spare the remaining kidney. or they may put you on a medication (see below) - it would certainly be worth asking about! a lot less involved than surgery…again, depends on tumor size, etc.
As for the brain tumors, there are a few different types seen with TS. If your neurosurgeon is not a TS specialist or someone who has a lot of experience with TS, you might want to see one who is. if you are asymptomatic and if the tumor is not in a “key” location, they may just monitor you. they may also suggest a newer medication to help “shrink” certain type of brain tumor associated with TS (subependymal giant cell astrocytoma).
as for LAM (lymphangioleiomyomatosis), i have a friend diagnosed with this rare disease…she does not have TS, but when she was diagnosed she underwent testing for TS. she has the (worse) sporadic form of the disease rather than TS-associated LAM. They will do a CT scan of the chest to diagnose it.
You may want to contact NIH (national institutes of health) near DC - they have top notch research involving many rare diseases (my friend with LAM goes there yearly). they may have a team doing research for TS. they will scan you from head to toe and do all sorts of bloodwork and other tests…since it is for research, everything is free. they may not necessarily TREAT you, but could point you in the right direction when it comes to specialists who can.
i assume the med they want to put you on is Everolimus (Afinitor) or Siromilmus (Rapamune)? i believe Everolimus is FDA approved for shrinking AML tumors in TS patients…the other drug may not yet be FDA approved.
as for your life…continue to do what you love to do! i can only imagine it is beyond devastating to be diagnosed with any chronic disease, especially a rare one with so many organ systems involved. i’m sure it is overwhelming, especially at your young age. I don’t think i would do anything drastic like sell your horses or give up riding. if your disease is mild you may need a few procedures done and start certain meds to keep things in check…and you may be perfectly fine.
the best thing i can tell you is to find the best team of doctors in the country…even if it is far away, GO THERE! if you or your family feels at all uneasy with some of the current treatment recommendations your current docs are giving you (such as brain surgery), go to ANOTHER center - see what they have to say. there is nothing wrong with getting a 2nd or 3rd opinion when it comes to your health.
here is a link to TS centers in the USA…maybe one is close to you.
http://www.tsalliance.org/pages.aspx?content=17
good luck to you!
msb
