My little sister has been sent to U of M (university of michigan) for a ton of tests and more care than her doctor can provide for her at home.

Her primary (hereditary) hemochromatosis is getting worse, instead of better and she’s having some severe complications due to it.

She’s having for her CAT scan this weekend.

She’s developing encephalitis (brain swelling), which is giving her severe mental confusion, migraines, eye swelling/inflammation.

She been having fainting spells, weakness, extreme fatigue.

She’s being tested for rheumatoid arthritis, due to the joint pain and swelling the excess iron in her tissues is causing.

She’s been having esophageal bleeding (and in her stomach), as well as severe abdominal pains.

Her liver is inflamed and they are checking it for cirriosis (which can be caused by the excess iron - the liver stores iron).

She’s developing high blood sugar - due to the build up of iron in her pancreas.

She’s bruising very easily and cuts/nosebleeds take a very long time to clot.

My little sister is 30 years old.  She just found out she has primary hemochromatosis…    http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm

I think it used to be called Bronzing Disease - because the overload of iron in the body can cause your skin to turn colours.  I vaguely remember a show on the discovery or the learning or the health channel talking about it.

Now something else I have to get blood test for, as it is hereditary/genetic - so that means my parents carry the gene, so any of us siblings could develop it (I think it’s a 1 in 4 chance or something).  I already have to have my Graves’ blood work done all the time, I also have to have the fasting glucose test for diabetes done every year (diabetes runs in our family like crazy), cholesterol tests (high cholesterol runs in the family - as well as my Graves’ causing cholesterol issues…), liver enzyme tests (due to my medications ;/)  now I get to have these ferritin tests done too - with a followup of genetic testing for confirmation if the results are unsatisfactory…

At least she is young - most females don’t get diagnosed with this disorder until they are in their 50’s - after the damage to the organs has been done.

Her iron level was over 2000…  Normal iron levels are 10 - 200.

The only treatment is having a phlebotomy (pint blood draws like for blood donations) several times a month until her levels are normalized, then she’ll have to have ‘maintenance’ ones done every few months for the rest of her life.  And of course, avoid consuming too much iron and vitamin c…  That’ll be a pain to do since everything is Iron fortified (just like everything is iodine enriched…)…

I have to go to the endocrinologist today.  I am not looking forward to it, of course.  The visits to him are rarely ever pleasant.  At least he doesn’t draw blood at these appointments…

The last few visits, he’s been pushing for a permanent treatment of my Graves’ Disease instead of encouraging me to try for remission with my medications, diet modifications and exercise.  He wants me to have ablation, via a total thyroidectomy (TT) - basically, surgical removal of my entire thyroid.  At least he’s not pushing the radioactive iodine (RAI) treatment on me - which requires 2 weeks of isolation from everything after swallowing the radioactive pill… and could increase my eye involvement with the Graves’ antibodies, making my eye problems (swelling of the eyeball itself and tissue and nerves surrounding it and pushing it out of the orbital bone, extremely dry and red eyes, eye migraines, etc…) worse.

Having a TT would make me nervous.  There’s a chance for damaged vocal cords and a bigger chance of the parathyroid glands being damaged in the process (there are 4 little tiny parathyroid glands behind the larger thyroid gland).  If any piece of the thyroid itself is left behind, I’d need to have surgery again o_0

Even with my thyroid removed, I’d still have Graves’ Disease antibodies in my system (as it’s an autoimmune disease), doing what they do best - wreaking havoc on my eyes, my joints and muscles, among other things…  I just wouldn’t have hypERthyroidism anymore, I’d have hyPOthryoidism instead - with all it’s problems lol.

To be considered in remission, my antibody level needs to be below 35. Right now, it’s over 1000. But 1000 is still lower than what it was to start with - over 1500!!!