By rbergman Latest Reply 2013-07-25 13:35:58 -0500
Started 2009-02-20 13:31:32 -0600

Once again our lives are turned upside down by yet another set of tests that reveal that all previous diagnoses on Laura were wrong. According to latest test results Laura has NEUROGENIC DIABETES INSIPIDUS, more commonly known as Central Diabetes Insipidus due to a lack of VASOPRESSIN production in the brain.
With that being said here is the low-down. In a previous post somewhere on here I mentioned that my parents were very closed mouthed people and don't discuss anything personal unless absolutely necessary, I also mentioned that it wasn't until after Laura was diagnosed with a Thyroid condition that my mother informed me that she has a disease called HEMOCHROMATOSIS (excessive iron in the blood that has to be filtered much like donating blood to the Red Cross procedure). This fact was brought up with Laura's previous Ped Endo, previous PCP and also shared with new PCP and new Ped Endo. Remember I also said at Laura's appt. with her new Ped Endo a whole slew of blood tests were ordered, well, today I got a call from her Ped Endo explaining various test results. Since that conversation where she explained that she believes that this is the type of diabetes Laura has and why and after I myself doing extensive research all morning since the call this is what I've learned in the best layman's terms I can give.
Hemochromatosis (US spelling) Haemochromatosis true spelling…is a hereditary disease characterized by excessive absorption of dietary iron resulting in a pathological increase in total body iron stores. This disease is also known as siderophilia and bronze diabetes. Humans, like virtually all animals, have no means to excrete excess iron. Excess iron accumulates in tissues and organs disrupting their normal function. The most susceptible organs include the liver, adrenal glands, the heart and the pancreas; patients can present with cirrhosis, adrenal insufficiency, heart failure or diabetes (do you see where this is going?)
Signs and symptoms of hemochromatosis usually don't occur until middle age and vary based on how severe the disease is. If it is not found and treated early, iron builds up in your body and can lead to problems with the liver, the heart, the adrenal glands, Diabetes, especially in people who have a family history of diabetes (Laura is 6th generation on my father's side of the family), changes in skin color to a gray or bronze color (no folks that isn't a tan she's sporting) and underactive pituitary and thyroid glands (Laura has hypothyroidism~underactive thyroid) and also joint damage and pain including arthritis can be caused by hemochromatosis.

With all of that said, and the test results, Laura's Ped Endo believes this is the type of Diabetes Laura has and not type 2 or type 1 (which she had said all along she represented symptoms of both types and was more like a type 1 1/2 than a true type 2 or type 1)
Treatment~ We now have to make another trip back to see the Ped Endo on Monday rather than on March 20th as previously planned. We already know there is nothing that can be done for the Thyroid condition, her thyroid was destroyed and she will still have to take a pill everyday for the rest of her life to replace that function…she will have to have her blood filtered to reduce the amount of iron build up in her blood, it was explained this will be 3 days a week for the first few weeks then once the levels are back to normal she will have it filtered once every 3 months…I should point out she said there is no cure for hemochomatosis therefore these steps will also be a lifelong commitment. She will be given some sort of synthetic vasopressin to replace what her brain is not producing. And she will continue to be treated as a diabetic on the metformin for the time being, the Ped Endo said this will change over time and there is no guarantee that she will ever be off of some sort of diabetes medication and once damage is done it cannot be reversed only controlled.

So, there you have it, my mother's family had the gene for hemochromatosis, my father's family had the diabetes gene and I was a carrier of the hemochromatosis and a sufferer of the diabetes…guess you could say my daughter didn't have a chance in hell. I do not blame anyone, genetics are genetics and nobody knows how they will affect any of us prior to birth and life it just sucks that things that don't normally happen to children, seem to be attracted like a magnet to our daughter.

Anyone have any insight on this type of diabetes?

6 replies

Pamtime 2013-07-25 13:35:58 -0500 Report

I was just diagnosed with hemochromatosis this past week..I am 57 years old. I have had symptoms for a long time just not the right doctors. Underactive thyroid, joint and muscle pain, in 2008 an endo found I was only producing 16% insulin, fibro, gall bladder removed in 2005 (also affected by HH). I was diagnosed at age 21 with Type 2, normal weight, physically active and no one asked WHY? It is amazing that I too had never heard of this. I was actually diagnosed by my neurologist. I am having all test repeated to ensure accuracy in what is a devastating disease.. I read it is common in people with European ancestry 1:200 and in Irish 1:50… I am waiting to see an endo for the rest of the dna testing for the rest of the gene and chromosome 6 testing. It is a test ALL type 2 diabetics should have, called : Serum Ferritin. Not expensive but first line is starting the diagnostic process. A regular iron test will come back normal and this test can be many times its normal range.. The earlier the diagnosis, the least chance of the devastating side effects from the damage the iron does to the body. Thank God your daughter got an early diagnosis. Once they get her iron down to normal levels they will be able to slowly decrease the frequency of the test and eventually shoot for 4 times a year for maintenance.

rbergman 2009-02-21 16:27:27 -0600 Report

Thanks all, we'll learn to deal with this just as we have every other diagnosis we've been through, I just hope they are sure this time and this is the last surprise diagnosis we get. I will let you know more as I learn it Avera and thanks for the offer to help, right now I'm still in shock more then anything but after Monday maybe it will be better.

dyanne 2009-02-21 00:49:45 -0600 Report

I dont have any help on the subject I just wanted to let you know how sorry I am for you and your Laura. Thank goodness you found out what is happening and now she can be treated correctly. My best wishes to you all.

Avera 2009-02-21 00:24:30 -0600 Report

I'll admit that this is new information for me, especially the excess iron in the blood. You surely did explain it in detail and now I feel that I have learned something.

Your daughter is certainly a truly interesting case. She is very lucky to have a Mom such as yourself to help and support her in the years to come.

I know you are at least relieved to know exactly what her diagnosis is so that she can be treated properly and successfully. The fact that this condition has been caught early is a big plus for her successful treatment.

Thanks for spending the time to type such a detailed explanation. Please continue to share what you learn in the coming weeks.

We may not know anyone with this type of condition, but knowing and learning will help us to possibly help someone in the future to seek information they might need thanks to you.

I'm so sorry your daughter has to go through this but I am on the other hand thankful that she has you. You amaze me with all you do for your daughter and the fact that you take the time to share with us as you do so.

If I can ever help you out in any way, especially with your research, let me know. I will be glad to do so.


rbergman 2009-02-20 23:17:26 -0600 Report

I'm assuming with no responses to this post that this condition isn't something commonly known about. I'll post more information when I get it from the Ped Endo on Monday.

2009-02-20 23:57:26 -0600 Report

Nope not something I'm familiar with. Sorry! I'm glad you finally have an answer to Laura's problems and there is way to manage it. Good Luck Hon!!


Next Discussion: Free Goodies In the Mail »