The Magnificent Seven (Subtypes)

Do you remember the last time you did this?


Sitting there in the Hopkins Peds Clinic waiting room,with all the babies (and the little kids)among pictures of yawning Poohs & smiling green dinosaurs, my mind took a turn back, to when (indeed) I was last considered a "pediatric patient."


Diabetes Clinic. Like clockwork, every three months. Getting up the nerve,somewhere around the age of 19 (yes, I was a late bloomer) to make the trip myself. Waiting room conversations with Parents of D. (somehow, I never ran into any other teens with diabetes) Sneaking out the back door (post-appt) & heading straight for the McDonalds across the street, to celebrate the start of the next "A1c Stretch" on a hot fudge sundae. The long, long, long wait for my a1c. Saying goodbye,(at the age of 19 years & 364 days) because I thought 20 was entirely too old to still be seeing a peds Endo. (it really isn't, if they're good, but I was entirely too selfconscious back in the day)


And here I am again, this time with a child in tow (albeit somewhat invisible to the naked eye, but at least I don't have to keep my child occupied, he seems perfectly content to play kickball with my intestines all day). Getting checked in, as a patient. Parents cast me curious looks,staff keeps asking "is this for yourself?" Just like that, it's time to waddle back to the exam room.
(genetics is located in with the pediatric diseases clinic)

"Hello, I'm Carolyn."


We discuss the genetics of Bartters Syndrome, the weird mess of a family tree I have. (they want blood from family members, but yeah, not so sure THAT is going to happen)She tells me people of Swedish & Italian descent are actually carriers 1/200 or 1/100% versus 1/1000 in the general population. (that's not so great,as my husband is 1/8 Swedish but yeah, what can you do) We talk about the research study from Yale, & what they're attempting to find. (testing for the most 7 common subtypes, & perhaps other testing on the types that don't "play by the rules." We review my medical file,& I sign more release forms.(for intial dx'ng records)

The Yale form is long, & geared very much toward the pediatric patient/and their parent, but it still applies. And I sign,my toes curling in anticipation at the thought that sometime soon,3 or so months from now, I'll learn what sub-type of Bartter's I've got. (probably on the day I deliver, when I could really care less)
I'm just surprised that there weren't any conditions that would keep one out of the research,like there generally is.
(start combining diseases, & researchers can't tell what is the effect of what)





And then I give blood, & wait...for something. (too long coming) What something is, I don't know, but it's better then the nothing I've got now. I'm grateful that the genetics counselor at the perinatologists has friends in high places..for somehow,this kind of stuff never just "finds its way" onto the Internet.3/4 of the studies I've been in,I've found out by word of mouth. (by the time it makes it to ClicalTrials.gov, they are desperate to find people,in my opinion, the truly great stuff (like the Artificial Pancreas Studies) go reallyyyy fast)

Stuck

I am feeling incredibly discouraged at the moment..and it's not a diabetes thing. It's
a Bartter's (Syndrome) thing. When you've got any disease(double so on the rare ones), you've got to be your own best advocate for your health.

But I'm stuck. Stuck in the 20th century, stuck in the concept of how said disease used to be treated, stuck in a doctor's office where new and novel is not something they want to try. I don't blame them, off label use of something is hardly something most doctors want to do but this is something I want to try. More then that, this is something I need.

Stuck, in a rut. Stuck, in an endless,expensive, time consuming, rut. The need for magnesium infusions is not going away.4 hours a week..thousands of dollars a month. It's like being on life support.(if we don't go bankrupt first) I've read medical journals, I've heard its possible to administer subcutaneously(much like insulin), but when I asked about it(an endocrinologist and a nephrologist) I get a "no, not possible." It must be, I'd sooner take the word of JAMA, they're up on the latest research. And I've also heard it's possible to administer as a shot, though no one wants to talk about that either. Although I'd much rather use a pump to administer it..double pumping would not be a problem. (have done it before)

I need to get unstuck, I need to go somewhere where they're actually interested in rescuing me from this pithole of a disease. More then anything, it's the money-if they were happily giving away infusions with no effect on the bank account whatsoever, I could deal with it. And it apparently being forever, next of all. Something else has to work, must work, there is another solution to this. A major teaching hospital, is my best bet.I still may stay stuck,but it's my only shot.

My Invisible Illness(es)

(this is for last week..I'm late, as usual)

1. The illness I live with is: type 1 diabetes, Bartter's Syndrome. One is decidedly more impactful then the other..but most chronic illnesses go hand-in-hand with diabetes.

2. I was diagnosed with it in the year: December 1998. September 2005.

3. But I had symptoms since: May 1998. There are before and after pictures,but I just remember the thirst starting around that time. The Bartters onset was a sudden thing, and up to last year, did not cause many problems.

4. The biggest adjustment I've had to make is:eating on a schedule, eating snacks. When you're a farm girl,you eat around work breaks, not the other way around. I hated being different. Getting on a pump changed that but sometimes you still gotta chase that insulin.

5. Most people assume:that I can do or be anything I want to. Which isn't strictly true..you can't fly a plane commercially or be in the military. The diabetes wouldn't stop from any of that,but the other illness says I've got to be in a civilized country where they can give an IV. And I can't simply have children,thanks to the D.(it's gotta be smack-dab perfect first)

6. The hardest part about mornings are: getting up. I'm not a morning person.(I require 2 cans of Diet Coke before I'm semi-awake)

7. My favorite medical TV show is: Greys Anatomy. 4 MORE DAYS TILL THE SEASON PREMIERE!!

8. A gadget I couldn't live without is: my ibaby.(iphone) If we're not talking medical devices. I LOVE MY IPHONE!!

9. The hardest part about nights are: Unwinding, I don't do that very well. I am a creature of the night. Muscles generally decide to do their cramping then too.

10. Each day I take: insulin via pump, 4 pills. I don't take much, its easily manageable.(in theory)

11. Regarding alternative treatments: Well, I'm not sure there are any in my situation but I'm all for whatever works(and has been shown to be safe)

12. If I had to choose between an invisible illness or visible I would choose: Visible.People can go ahead and get their discrimination out of the way early(instead of slapping it on you later on)

13. Regarding working and career: I don't let my diseases get in the way of what I want to do with my life.

14. People would be surprised to know: That it's hard. It really is NOT a matter of take a shot, you'll be fine in the morning.Sometimes it goes well, and sometimes it doesn't. And it's not your fault.

15. The hardest thing to accept about my new reality has been: that there may never be a cure for diabetes & things may get worse, instead of better. I'm not sure how well I'd cope with some horrible complication. And with the Bartter's, accepting has been hardest with the need for the IV sticks/infusions.Those still suck.

16. Something I never thought I could do with my illness that I did was: pass as a non-D. Haha.

17. The commercials about my illness: don't exist for one, and for the other don't accurately depict life with it.

18. Something I really miss doing since I was diagnosed is: eating half a bag of marshmallows, drinking slurpees, hiking a mountain without going low. Mostly food stuff.(but really, not that healthy anyway)

19. It was really hard to have to give up: Chocolate, and so I haven't.(and I don't believe in giving anything up food wise, but the limit quantity stuff has been really annoying). Spontaneity, with the Bartters.

20. A new hobby I have taken up since my diagnosis is: Writing poetry, blogging. It's how I cope.

21. If I could have one day of feeling normal again I would: Go to the beach, eat and drink to excess & not think about diabetes at all.

22. My illness has taught me: To make lemons out of lemonade. A cliche, I know,but you just have to make the best out of your illness because it's not going anywhere. To be able to help someone else always feels like your illness is not a totally bad thing.

23. One thing people say that gets under my skin is: that I'm not taking care of myself if I have a low, or a high.(in their presence) It's because I'm trying to take care of myself that I don't skulk off and save them having to see that I am human. I hate being judged (morally) for my disease.

24. But I love it when people: do things that show they are incorporating the inconveniences of diabetes into the day...and don't act like its a big deal.

25. My favorite motto, scripture, quote that gets me through tough times is:
"Into each life some rain must fall..some days must be dark and dreary."

26. When someone is diagnosed I'd like to tell them: We're all in this together,& you aren't alone. Don't give up on your dreams.

27. Something that has surprised me about living with an illness is: sometimes you can actually forget about it. And that's really nice,until reality comes whooshing back.

28. The nicest thing someone did for me when I wasn't feeling well was: got me a cold diet coke. Or a cold juice.(for the extremes in blood sugars)

29. I'm involved with Invisible Illness Week because:maybe someone out there will learn something,& treat another with the respect & support we all need.

30. The fact that you read this list makes me feel: thankful that you'd take five minutes out of your day to do so...and hopeful that you will pay it forward!

One in a Million

Raise your hand if you've ever felt unique, because of your diabetes.


Raise your other one if you're convinced that yours is the freakingist, hardest, most complex case ever.


And now, jump up and down when you hear that the autosomal recessive gene curse has struck again.. and the thing you're being tested for, is something that about 250 people in the US have. That the nephrologist, who has been in practice for 35 years, has never seen before.

Bartter's Syndrome. None of my five siblings have anything weird, or chronic diseases.I'm not sure my parents knew what they were in for, that fall day when I made my appearance on earth. Or that January day, when the screwy genes collided.
There's a few more tests that have to be run, but one thing is for sure, magnesium infusions are going to be a part of life for an indeterminate period of time.