I am Lt. Jeff Williams of the Fort Vancouver Garrison, 2nd Regiment of Foot, Vancouver WA. Up until late 2007 I was just a normal 46 year old American male. Then, Hereditary Hemochromatosis happened to me:
Here is my story:
Part I. (Non - [!] then...) diagnosis of diabetes
Part II. (Non - [!] then...) discovery of Hemochromatosis
Part III. Screening (or lack thereof) = prevention.
Part I. Descent, Diabetes, near-Death.
I wrote this as a blog on Jan. 14th,2009 four days after getting out of the hospital (with a few edits):
One day in November, I woke up, and, presto! my eyesight had changed. Overnight. So I go to a Kaiser optometrist. She insisted "it could happen". Little did I know how rare it was and what it meant. She checked for diabetes damage, but understand that's damage that might've happened 15 years ago, not recently acquired changes in the eyesight owing to diabetes. Different deal.
The following Monday when I got the glasses, presto! They were useless - I needed a NEW set! Uh oh....
I had made an appointment for an opthamologist. They have a better understanding of the physics of the eyball and what does what. But it was scheduled for Jan. 2. Setting the appointment that far in the future was almost the last gate before the abyss.
From Dec. 10th (my last optometrist visit) until Dec. 29th (when I finally went into ER) I had started feeling lethargic. I have had periods of lethargy many times in my life, but I always seemed to shake it off, so to speak.
But in December of 2007, I had a fuzzy headed feeling that I could not shake. And towards the end my mouth was completely dry. On Dec. 28th I went into urgent care after vomiting blood or something like it, and having a blood sugar level of 371. And, I was feeling reaalllllly crappy. They gave me tablets and sent me home, saying that if I didn't feel better by morning to come into ER (I remember NONE of this!). By the morning I was apparently incoherent and my daughter and roommate (Eddie Morgan) got me into ER. The last gates had passed, so into ER I went. All I remember was being in the wheelchair going through some double doors saying (perhaps to myself), "Here we gooooooooo!". I was right.
They diagnosed me immediately with Diabetic Keto-Acidosis, or DKA with a glucose level of an almost fatal 617. DKA, or Ketosis for short, means that since the body can't get sugar from insulin breakdown of carbs, etc. it goes after fatty deposits. They produce ketones - they're highly toxic. Also, with so much glucose in my system, and me drinking tons of water (thereby diluting my blood), my blood pH changed, and i became anemic. They liver goes at war with the spleen and the pancreas and basically your whole body at war with itself. (More on the liver later!) You're a very, very sick person indeed. Had I not gotten in that day, several doctors said I'd be pushing up daisies. Wow.
Well, the doctors "slow down the body" and provide the right amount of insulin, but liver enzymes were elevated and the liver was almost in failure (again, wait until part II to solve this mystery!). So they had to sedate me in order to get the whole system stabile, and then bring bring my body back to a normal state. But they noticed I was going through DTs (alcohol withdrawal? Alcohol withdrawal?? - again, Part II shows this not to be the case), so that was a complicating factor.
For five days I was under. By the fifth day the anesthetic had been lowered enough to let me wake up, which I did around 1:20 p.m. Jan. 3rd. I was pretty woozy, but I remember waking up, and seeing the first person out there and waving at them. It was a nurse, and when she saw me awake and waving, her eyes were wide as saucers! Apparently the prevailing wisdom was that I was NOT going to "make it". My family all gathered round in amazement. I was overcome with emotion, many times. This was a traumatic, life-changing event. You are NEVER the same when being out that long. And then to wake up an insulin-dependent diabetic with cirrhosis of the liver? Wow....... A lot of tears of sorrow and joy were shed, to say the least. I still can't believe it all happened. It was like stepping from one universe into another. I was soooooo glad to be alive, but I felt eerily like I was in an otherworldly dimension.
Next, they de-intubated me and de-catheterized me (installation of both which were cruelly painful, which are two of several things I recall during the five days of being "out"). Once all that was done, I could speak (or croak), but as you can imagine my throat was a bit sore. I had a great gravelly voice for a week, and I could't swallow quite right for months. Still, I was sooooooo happy to be free of those contraptions I was laughing and joking with the nurse, family, staff, and visitors all day long.
By day 7 that ICU was starting to become painfully uncomfortable.
I think by 7 or 8 days I was in a normal hospital bed. I left the hospital after a grand total of 14 days. I breathed fresh air for the first time in 14 days. It was the greatest feeling in the universe, but it felt like I was stepping into another world, hundreds of years in the future.
I now have type 1 diabetes, adult onset - type 1 - at my age is almost unthinkable (Hold off on believing this until you read Part II). Yup, I check Blood Glucose 4x daily and inject insulin as required 4X daily.
Comments:
1a: The care I got at ICU was gold-seal, presidential level. God help me had I had public health care! Period!!!! I am Kaiser insured, and they're served by St. Vincent's for ER and so on when they determine that the patients' problems are way out of their league. ER and the ICU and critical care are basement/ground floor at St. Vincent's. When you're no long critical/ICU you go up to the 7th floor if you're a Kaiser insured patient. Nice view up there. Everybody was great, but I single out the incredible work of the ICU folks.
1b. Still, given 1a, someone still must've told the whole team: Give this guy the works. I got incredible treatment. Inlcuding the 7th floorstandard hostpital room.
2. My Kaiser on-call doctor, who did a few rounds visiting me down in critical care and several up on the seventh floor (standard hospital room) was also very very good. I explained to him as to everyone else, while a social drinker, I was no alkie. I had in fact quit, easily, for three weeks in October. and had not drank at all two weeks prior to hospitalization. Why, then, would I have suffered "DT"s 14 days after the last drop of alcohol. I'm puzzled. His parting words with me were "well, I've looked at the ultrasounds, MRIs, etc. and now I'm not convinced you have cirrhosis. Hey, look, anything's possible, but......We spent a long time going over everything. That was nice. Little did I know he did not believe a word I said.
3 In the end, it doesn't matter. I won't ever drink, and when the liver enzymes become fairly normal (update - they did - May of 2009), then they're fairly normal. Nothin' to do but leave'em alone and check it periodically. Period (Still true - May 2009). I must always take insulin via injection, up to 4 x daily, depending upon glucose levels, which must be tested 4x daily. (update August 2009)- if I go easy at meals and am very active, I can often skip 1 or even 2 shots during the day, with no penalty)
4 One of the sedatives mentioned earlier was propofol (you might note that it was the drug Michael Jackson's doctor administered via IV, then the good Dr. took a nap, and returned with Michael Jackson expired) Anyhow it gave the most amazing, and complex hallucinations for 5 days (and a bit more of them, subtly, after I woke up). Now, I don't espouse taking hallucinogenic drugs. I never have, and I am certain I never will. But this was "different"(?). In any case, there was no fear, there were no bugs crawling on me, no outer body experiences, none of that. Just a complex set of undulating and changing fractal and paisley patterns more complex the closer you inspected them and it would be patterns projected onto more undulating complex patterns, mostly on the wall or ceiling. .All set to music. It's fair to say, I "broke on through".... -Note - after discovering my "discharge report" (more on that later!!) in May of 2009, I was also given Ativan and Haldol, both of which may explain much of my previously mentioned amnesia!
5. If you have ANY loved ones, and you don't get checked annually, basically you're inflicting your own selfishness on others. Think about that. My Dad who had gone through so much with my mother dying from throat cancer, and my daughter totally terrified. (having said all that, said GI doctor suspects it started developing in October).
6: I could not believe how many people were "pullin'" for me out there. It was very very humbling.
7: My Brother and Dad were "the rock" in helping out and keeping their cool.
9: Sis came all the way out from Virginia, and being a nurse practitioner, and ex ICU nurse, she laid down the law.
10: My boss and a long ago ex-girlfriend were there for me and simply incredible.
11: Donate to the health care foundation of your choice. Some day the life they save might be your own. I am a living, breathing example.
12: You must have on record a person who will administer all you legal and health care decisions, if you are unable to. Boy did that cause a problem!
Now as for me, I'll spend a month or two in recovery recovering slowly
----------------------------------- End of blog entry--------------------------------------------------
Part II. Hemochromatosis discovery.
The liver damage was attributed to alcoholism and the diabetes to adult onset of juvenile diabetes (Type 1). Type 1 diabetes is an autoimmune disease where T-Cells mutate and attack the islet cells in the pancreas. They kill them off - dead. All of them. That's it. I didn't believe I drank enough to have cirrhosis, which was what I was diagnosed with because of the ascites and elevated enzymes and low platelet count.
After the ascites disappeared, which it rapidly did, I started to feel better, and got into the rhythm of meal making, eating the right foods, no alcohol, no sugar, no white flour, no high carb foods, lots of fruits and vegetables and meat. By Feb. 1 I was back to working 20 hrs a week. By late Feb. I was on full time. I was skinny and had lost all muscle mass, and I was weak and frightened.
I began to research diabetes, and was going to participate in some genetic studies. Ahhh... they would have been verrrrry interesting had I done these....
In any case my liver enzymes hadn't improved, but hadn't really gotten worse. But I was feeling much better - by March 1, I could honestly say I felt better than ... EVER???? It was an amazing transformation.
In April, I took my birthday off and skied all the black diamond routes on the Upper Bowl at Ski Bowl, a first time for three of the four. I was back baby!
HOW I ACTUALLY DISCOVERED THE ROOT CAUSE:
In May, I chose to go visit an ex-girlfriend's parents at their ranch in Ironside, OR. Del Scott is a retired pathologist and a fellow diabetic. In January after I got out, I had spoken with him immediately, so he knew what I had gone through. I had visited the ranch the year before (2007), and as he had aged visibly from my 1999 visit, and he and I could rap about my diabetes, I chose to revisit in 2008 (and did again in 2009). I am VERY VERY VERY glad I DID!!!
I showed up at the ranch, and it was relaxing and great. I had all of my well-being back. I showed up on a Thursday, I think, and Del and I were the only ones there. He had a physician's desk reference manual and he invited me to read with him about diabetes in the manual.
We flipped back and forth, back and forth (he knows the manual well, so we were all over it!) and after what was no more than a couple of hours, (we took some breaks I believe) I or he (we don't remember) found a heading called hemochromatosis. It was referred to by diabetes (as a cause for) and cirrhosis (as a cause for). Suddenly, this tied everything together. This was one of those "Oh My God!" moments!
I remember that when I returned home I called up Kaiser (my HMO) IMMEDIATELY and demanded the tests (I researched which tests were needed - two blood tests and a genetic test). The blood test came back THAT DAY. One of the tests is called Serum Ferritin (read about it in the links), and normal is 45-120. Mine was 2350!!!!!! No *($#*$!#( wonder I had gotten so sick! The other test is genetic (Hereditary Hemochromatosis is a genetic disease where both parents donate a recessive defect [most commonly the "282y" one] in the HFE gene that, when both combine in YOUR DNA, ["homozygous"] causes you to over-absorb iron, which is deposited in the tissue). Sure enough, the genetic testing results (10 days later!) were positive too!.
I was EXTREMELY GLAD that I HAD DISCOVERED the problem early enough to SAVE MY LIFE!
I then asked them to test me for the juvenile diabetes that they had claimed I had all along. NEGATIVE NEGATIVE NEGATIVE!!!
There was MUCH "egg on face" with the specialists at Kaiser! My Optometrist had of course overlooked it. The urgent care attending doctor on Dec. 28th overlooked it. The ICU doctors overlooked it. The attending Kaiser doctor at St. Vincents had overlooked it. My primary care nurse had overlooked it (I still love her, and have had her as my primary care practitioner for over 20 years). My gastroenterologist had totally overlooked it. My opthomalogist overlooked it. Detecting a pattern?
Yes, HH is the most UNDER-DIAGNOSED disease in the UNITED STATES. Statistically you have a 1 in 200 chance of having the double defect. If you're of fairly pure celtic blood, it's higher. A lot higher. You have a 1:15 chance of have just one defect (you're heterozygous) as an American, and about 1:10 if you're of fairly pure Celtic blood.
I asked point blank why Kaiser had not screened for this. No answer. Or some vague reference to "well, years ago we checked for HH genetically as a random test in the population, and didn't find too much".
I informed all of my health care professionals that they had basically blown it. They had overlooked the unforgivably over-look-able. Had any of my blood screenings had this tested in the past, I would have had NO diabetes, NO liver damage, NO endocrine damage, NO NOTHING! It was all so stupid, such a waste, soooooooo preventable. I was in an absurd situation and the only victim was me! For a few bucks my lifespan would likely have not decreased by 20 to 30 years!!! (Update August 2009 - in May, purely by accident, I discovered they HAD tested my Serum Ferritin in the hospital - it was wayyy high, and they BLEW IT OFF!!!! More later).
TREATMENT:
Needless to say, I jumped on it. When all the testing was done it was July. I started weekly phlebotomies. Whereas your other blood components recover quickly, the iron does not, and the body will excrete iron from tissues to equilibrate the iron in the tissue to the iron in the blood, to make a long story short. This treatment MUST commence and be maintained as soon as possible. When they said donate once every other week I said "no, I'll try once weekly". When they said 250 mL, I said, "no, 500 mL and more, if I can tolerate it. I was aggressive. Once my SF drops to 45 or so, it will be carefully monitored and I will phlebotomize every 4 to 12 weeks based on my accumulation rate. This will continue for life. No alcohol (it greatly enhances the over-absorption of iron) and NO red meat (the biggest source of iron), whic will drastically slow accumulation. Iron in my diet will be small indeed.
PROGRESS:
At first, progress lowering the SF was slow, but then it sped up. I was at 1906 in late October but in Nov. 5th I had plummeted to 1480! I am having the serum ferritin test Jan. 7th. We'll see where it is. Waiting and hoping for good results with this disease is a roller coaster. So is controlling diabetes. Every day is a battle. But with my SF down about 900 points as of Feb. 5th I can tell you I DO feel better!.
May 12th, 2009. Six months later, and guess what? My SF is around 900 again, after excursions up and down, up and down, up and down. For complex reasons, this is to be expected. But I test SF weekly and will have a chart up with some statistical studies when I'm completely de-ironed.
August 2nd, 2009. Slow but steady progress has me down to 319. Much better indeed.
PROGNOSIS:
I have a 40% chance of recovering insulin function. I doubt with my SF at such a high level prior to discovery that I'll ever restore it. But I'm hopeful. The cirrhosis in the liver will never get better. But it might not get worse, whereby I'll just live with it. No alcohol or Tylenol or some other drugs, but I don't take any anyhow. The biggest problem is (and it's a very broad average), 1 in 3 hemochromatosis sufferers who also have cirrhosis will get liver cancer. This is what usually kills.
Part IV: SCREENING=PREVENTION:
As I have expressed clearly, I am very frustrated about having slipped through the cracks throughout the entire epic. First the diabetes (a stupid oversight that was criminal in how it played out), and then the hemochromatosis.
When I asked Kaiser to universally screen for HH, they said basically they weren't going to do it. That's odd, I thought, because what that means is that if I just waltzed in again pre-diabetic to have an annual physical, the ticking time bomb would be left "as is" AGAIN!!! But Kaiser can't be singled out, as NO major health care organization screens for it.
Well, upon my discovery, my brother and sister were screened. Bob has one defect (heterozygous) and a somewhat high SF, but not high enough to warrant any phlebotomy (yet). This is a typical state for a heterozygous carrier - 1 in 10 to 15 of YOU!!!
Then there's my twin sister, Janet. She is a nurse practitioner, like my primary care practitioner. She was tested and sure enough she has HH. Her SF was about 500 or so. Not enough to incur ANY damage to her, but enough to warrant immediate phlebotomy. Now she's back at normal levels, and will live a normal live with a normal lifespan.
But now the 800 lb. gorilla in the room is the need to increase awareness of Hemochromatosis. Major Dave Alford and myself will go to the ends of the earth to do this. The Canadians are ahead of the game in awareness and the Canadian Hemochromatosis Society (http://www.toomuchiron.ca) has been most generous with materials and a short film on HH. At the Sept. Officer's meeting in Calgary, their Regional Coordinator, Anne Stang, was permitted to introduce the film and answer questions.
I have made business cards with links for HH, our website prominently shows the links, this document is there, and we are creating a Hemochromatosis awareness board whose names will appear in our stationery and we will be sending many awareness notes out all over. Our message is universal:
EVERYONE SHOULD GET TESTED FOR HEMOCHROMATOSIS. SCREENING SAVES LIVES!!!!!!!!!!
PART IV: Updates:
August 2nd, 2009:
Well, well, well.... First of all, my Serum ferritin is down to 319 as of just now... I'm happy, but need to break on through to get the deironing done. It's all very routine, and there is no trauma, mentally or physically. We're sailing home to the finish line When it gets this low, the body will yank more iron out of the body to get red blood cell levels back up. The percentage of iron in the body lost by each phlebotomy gets higher and higher - that's a good thing for de-ironing.
In May of this year, as referenced earlier, I discovered, that the doctors had TESTED me for Hemochromatosis and DIDN'T TELL ME! My serum ferritin was at a staggering 2098 and they believed that it was cause BY my liver damage, "not the other way around".
Now let's put this all together: Think this through. Had I not discovered it in May of 2008, and they had tested me in early Jan. of 2008, and determined I didn't have HH, what would have happened to me?According to my new GI (I don't see the one who made this incorrect diagnosis back then any more), had I just kept on going, I would have eventually died.
December 4th, 2009
This morning I FINALLY got the GREAT NEWS! It was on a Saturday morning. "Wish" (Aloitius, a male nurse in the infusion center where I phlebotomized) called me and say ""Hey, have you checked your blood levels lately? (Um, i just got the blood drawn on Friday the day before right after my phlebotomy) I said, "No, what are they?' Wish said, well you're ferritin's down to 34". I exclaimed "DO YOU KNOW WHAT THIS MEANS???? I"M FINALLY DE_IRONED!!!".
Yes, 72 weeks and 17 months, 36 liters total, eight times my total volume of blood have been removed to get me to therapeutic iron levels in my body. I feel good. My diabetes, although occasionally whacky, is o.k. I have great energy. Life is purty good!
January 15th, 2010
I just got my first post-phlebotomy ferritin level check. I'm at 49. So no check for a month or two after this. Since December there have been shocking developments in regarding other people. I discovered not one, but THREE people at my work besides myself who have HH!!! And one was because I made them aware. Then, a friend of mine from a long time ago bot back in touch, and guess what? She AND her husband BOTH have HH!! O.K., so HOW RARE IS THIS DISEASE AGAIN?
Then, my brother, who was previously diagnosed heterozygous and had a ferritin level of 583 in Sept. of -08 was told to "wait and see" for another year. BAAAAAAAD IDEA! On Dec. 20, 2009, his ferritin was at 1394!!!! Like me, he was measured on the WAY UP prior to his first phlebotomy. And there is a chance of mild diabetes and some liver issues. He's getting all the tests, so we'll see... This is a classic case of NOT LISTENING TO ME IN THE FIRST PLACE. I doubt THAT will happen again!