Thursday, June 30, 2016

Two MODYs walk into a bar...

Recently I had my follow up with the geneticist/Endocrinologist of last August's appointment. I absolutely adore her, because I have her personal email and every question I have is a promptly answered. Learning to live with MODY hasn't been all roses and sunshine, as I've developed a swelling of my left kidney (called hydronephrosis) which I've had an ultrasound and abdominal CT for and am scheduled for a renal perfusion scan in two weeks. It hasn't affected the overall function of said kidneys but it's there,like an albatross, needing attention. There are no kidney stones (#1 cause) and the geneticist feels like it's MODY caused, such as stricture in the ureter causing back flow into the kidney. The renal perfusion scan will tell what's going on. In the meantime, I'm going to work very seriously on my a1c and try to get it down before the school stress starts up again. I'm going to prebolus, low carb it as much as I can, and try to eat more fruits and veggies to take the D out of the picture of kidney stressors. I'm also going to start taking some antioxidants, fish oil, and give glipizide another whirl. We talked a lot about the added risks to the kidneys with this condition (1 report of cancer,& just various kidney issues) and she recommended a yearly ultrasound with that yearly appointment. And we are talked about the genetics of it,& risks/dangers of it being passed down & the no way of knowing how the deletion will express itself in the next generation. It makes me kind of sad because that's not an inheritance anyone needs. The geneticist felt that if that class of drug didn't have results on the D, then other oral meds probably wouldn't either. Also, the exocrine function of the pancreas can be affected in MODY 5 and if that should happen you need (oral pancreatic digesting enzymes. I now need to schedule my sons yearly genetics appt...where we'll have discussions on variations of the above plus developmental issues.It gets heavy, fast. It's pretty certain that he will get diabetes but at what rate,no one knows.


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Friday, May 20, 2016

Blog Week: The Mental Stuff(ing)


We think a lot about the physical component of diabetes, but the mental component is just as significant. How does diabetes affect you or your loved one mentally or emotionally? How have you learned to deal with the mental aspect of the condition? Any tips, positive phrases, mantras, or ideas to share on getting out of a diabetes funk? (If you are a caregiver to a person with diabetes, write about yourself or your loved one or both!)



I wasn't planning on participating in #Dblog week, due to being fairly busy with the wrap up of Nursing School Year 1, but life had other plans. Tonight, my husband, son and I went out to eat at a local restaurant. The kiddo particularly enjoys flushing the toilet, so we made several trips to the bathroom to establish the fact that that was in fact what was going on. (no, he did not need to use it every five minutes)As I was helping him wash his hands, someone said "excuse me" and then "How do you like your Dexcom?" Well, that got my attention..turned around, and there was a blondish girl with a Johns Hopkins sweatshirt on.(I wear my Dexcom out in a Tallygear case) We had a very nice conversation about diabetes lows and how much the Dexcom was truly worth its weight in gold, and she turned to her friend with an expression of joy on her face and said she wanted to go back on one. And I showed her the transmitter and how much it has evolved, from whatever she had tried in the past. And then she said "You really get me!!!" and danged if that didn't just choke me up to pieces. No one has ever ID'd me as a Dexcom in the wild before. She was most definitely needing a kindred spirit that night, someone who also had diabetes and knew all about it. I didn't really have time to continue the conversation, but in that moment I felt that diabetes wasn't so sucky, if I could be that example that she wasn't alone. Previous experiences with everyone not at FFL, college kids with D generally want to do their own thing and ignore the D. And it isn't that way for everyone. (I needed reminding of that fact) I wish I could have been more informative of good resources, but my kid was pulling me in the other direction.


As for diabetes funks, it is helping me get out of mine. I have been thinking more that it would be a good idea to be a diabetes educator, if its as rewarding as the exchange I just had. Kids with diabetes really need that support. (so do adults) Because you're just mostly living your life in a diabetes-less vacuum until boom, you get a reminder that you are not alone.

Monday, March 28, 2016

Hello April


It's hard to believe that it's the end of March and April will be here by the end of the week. I'm busy (isn't everyone?), but it's Spring Break,so I'm feeling a little less stress. I am deep into the second semester of new nursing school,& that means OBGYN/Medical Surgical 1. As someone who has not closed the door on wanting more babies, being around babies makes you feel like that biological clock just cranked up to 2359.59.(not true,FTR,but those days will come) Babies do things to the sane part of your brain. Anyway,this semester is a whirlwind of tests-clinicals-lectures-skills-care plans. It always seems like I never get truly "organized"(I somewhat envy those students who have everything in lovely organized binders,they have it together.) I'm lucky if I have the essentials. (Given the choice between studying and organizing,I'd rather study. I also don't have as much time as a childless person.) These two classes are being held simultaneously,which means there is always some exam being held days apart for both courses.(It will drive you mad.) But it's almost April..and May heralds in the end of clinicals,whirlwind Exam 3(x2) prep, and HESI's(which are the final exams). Just a little bit longer.

Had to reschedule my Endo appt for June, due to conflicts with clinical. I did my a1c prior,and that actually dropped 0.6 points so I feel good about that. Saw the retinologist and things look good there(pushed out next appt for October). I need to see my primary doc and do some basic blood tests(like iron,thyroid) to see if that's why I'm so tired. I haven't been on thyroid meds in a year and a half because it's going though a "sputtering" phase. That phase doesn't last forever though.

On the blood sugar front,the Glimeperide did whacky things to my blood sugar. I would eat a carbless meal and go up 100 points. And then have to bolus it down. And after a few days of that, it would go into hyperdrive and make me low all day.(to where I couldn't bolus for anything I ate) This was with the lowest dose,once a day. Plus it made me dizzy. It definitely made me produce insulin,but it wasn't consistent. I don't know if taking it longer would have changed that fact or not. It's something I would like to further explore,but not now (I have to be functional for school,& being dizzy is not being functional).

This is pretty much catch up week..studying(exam prep), shopping for odds and ends, flea market selling prep (on Saturday), FAFSA and scholarship filling out. Loving the warm weather. (And looking forward to the Falls Church VA Friends for Life conference in several weeks) Kiddo is doing well, 4 is an age of great insight(& quippy one liners that make me laugh constantly. I love 4. It actually feels like he will be self sufficient one day and not need need his Mama for everything. I would certainly like him to still need his Mama,just not for everything.)


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Monday, December 21, 2015

Year in Review: Diabetes Style

Hi kids! It's the most wonderful time of the year,in which you get updates from your great aunt's uncles friends dog and actually,it's kind of fun. No one ever sends updates on their diabetes though because I guess it crosses up comfort levels in the worst way. No one wants to hear about your betes misadventures. Anyway,2015 was the year that challenged me in ways previously not ever imagined so I'm going to break those social norms and give you a review of how my year went.

February: Child had an MRI. Child had a karotype blood test,to check for chromosome abnormalities.

March: Childs blood test comes back positive for chromosome micro deletion. (With a possibility of MODY diabetes)World ends.(or just feels like it does) DUnConference in Vegas proceeds,
an amazing diabetes experience that 
does much good to a hurting heart.

June: Childs blood work and abdominal ultrasound come back normal.

July: Friends for Life conference in Orlando. Find out about beginning  NPDR complications (both eyes). Cry a lot. Crawl back from emotional hit in heart.

August: Childs first appointment with pediatric endocrinologist. Talk about MODY testing. Current a1c at 5.6 and all blood work good so agree on periodic blood testing and yearly a1c check.

September: Own appointment with geneticist. Send off blood for specific karotype testing.
Karotype test comes back positive for same chromosome abnormality, raising extremely strong possibility of having MODY 5 not type 1 diabetes.

October:
Part 1 Artificial Pancreas study admission. Data collection begins.

Have tear in right eye's virtreous fluid. Stressful stat appointment with Retina dude reveals that it is a common thing with age or with cataract surgeries of which I had 16 years ago. Reassured retina is not detaching but the new floater may be permanent,or it could go away over the months. It is not directly diabetes related.(everything else is stable/good.) Recheck in February.

December: All antibodies other then GAD come back negative.(GAD was very positive) Confirmed by geneticist that it is MODY 5, and not type 1 diabetes. Also not Bartters Syndrome.Endocrinologist gives RX for trial of sulfonurea. 
Part 2: Artificial Pancreas study. Real deal . So,so, so incredible.(#ILike)

In conclusion,everything I thought about my body was essentially proved wrong this year,I got three new diagnoses,and my son can get MODY as well. (Which feels bad but anyone can get type 1 too so I'm not sure why it feels so bad. Every parent with D is afraid their child will also get it.(on the plus side,he's had no elevations in blood sugar and all the labs are good.)  I'm waiting to January to try sulfonureas because it's going to be a very interesting can of worms to open,& my Endo gave me explicit instructions on how to do it all.(the drug causes hypos very readily) It's really unknown as to whether MODY 5 people can use sulfonureas,usually MODY 2's have more luck with them. MODY 5 is super rare and MODY 2 is the most common kind. MODY 5 is generally associated with complete insulin dependence just like type 1. But it's worth a shot.(obviously,it's not a good idea to go off insulin entirely,it would be more of an adjunct therapy) The geneticist informed me that I'm the one and only MODY 5 she's ever seen.(she did see a MODY 2) It still feels surreal,after 17 years of thinking that I'm type 1. Few people have ever heard of it,much less know what it is. It's easier just to say you have type 1,at least as this point. HCP have at least heard of that. I don't even know much about it much less how to explain it to someone else.(there's limited info on the Internet) It's so very similar to type 1(islet destruction) yet it's different too. And I'm going to be spending the rest of my life unpacking this, I guess.


Saturday, October 24, 2015

A Rendevous With the Artificial Pancreas


Last weekend, my dreams came true. Well, kind of.It was a joyous thing, to get off from class and coast off into parts unknown, the weekend entirely free from school and kid and spouse and life and blahdeblah...a kind of weekend getaway, as it were. I'd gotten a random "hey, we think you could be a good fit for this study" email from UVA several weeks prior, and after some serious analyzing of my schedule determined I could do it Friday Oct 16-Sunday October 18. Since UVA is a nice little 3-5 hour drive away, (depending on the Beltway traffic) timing was absolutely everything. I have certain days that absolutely do not work (Tuesday, Thursday, and Friday) so I didn't think initially I'd be able to do it. I was able to get my LabCorp screening bloodwork done on Monday of that week,(remotely-since LabCorp is a national chain)but I still had to come in to meet with the study physician and get an EKG. Wasn't too happy about that, but we had an "off" Thursday (which basically only happens twice this semester) so I used that day to go down and back. Because of traffic, it took 5.5 hours to get down there and 6 to get back. (I'm not going to lie, that sucked, but one of the RN's there took me out to lunch because she felt sorry for me that I had to travel all that way. It really should have only taken 3 hours, in a non-traffic-less world but good luck with that one).

(Virginia is for people who love the AP.)
Anyway, everything was looking good with my bloodwork and EKG so the timing was on for Friday afternoon at 4 pm. I was hoping to sneak out of class early, but opportunity did not present itself (they've got this system where at the beginning of skills lab, they take attendance and at the end of skills lab, you have to turn in a form) without getting Critical Units, which is how you fail the program. Nah. (I'd just have to get there slightly late) I'd made sure I was ready to hit the road the instant it let out.(snacks, drinks, address in GPS, bladder empty) It did let out, and in two minutes I was in my SUV and on the road, feeling that joyous October breeze as I sped down 495 at 70 mph. 95, 495, 66, the miles sped by and I was making good time. On 29S there were some major road snafus but I still got to Charlottesville around 4 pm. I called the coordinator to leave a message, because I was having difficulty locating the "research house" (drove by it 3x before I got the idea that said "footpath" was actually a road, and I needed to drive up that road.) Parked behind the house, drug in my bag and backpack and announced my presence. The coordinator was just calling me, because by that point I was about 30 minutes late.(I would have been much later if the traffic hadn't been so good)

(The research house. It dates back to 1800,as part of an old plantation. Miraculously,it was not razed during Sheridan's Civil War burnings of 1863-4(?). It is quite picturesque,and cozy, if you don't count the fact that the baseboards creak at night and when you are the sole research participant it gets a little creepy in the dead of night. Yes, I always had a nurse and tech with me and University Police was a few minutes away but I couldn't help thinking worst thoughts in the dead of night.)

The first order of business was to prove a state of non-pregnancy, so a urine collection cup was unceremoniously handed to me for a stat dipstick. That was negative (like it was going to be otherwise between the lab order and the urine collection,(4 days) but I digress) so the study coordinator told me I was cleared to participate.

Took a deep breath, and they showed me around the house and I picked out a room to stay in. (there is one patient bedroom downstairs and multiple rooms upstairs) I was the only participant that weekend, because the other individual failed the bloodwork. (for this study, the a1c has to be 7.0-10.0. Courtesy of nursing school, and a 0.8 jump in my a1c since August, I was in that range).

The main hub of all the action was the dining room. About 4-6 people were hanging out in there, waiting for me, to get things started. I put on the study Dexcom transmitter and began the 2 hour warm up period. The first nurse then introduced me to the study glucometer..and had me check a blood sugar.

At that point, it was about 5 pm. I wasn't allowed to eat until I entered bgs into the Study Dexcom,and until the study doctor had placed the study pump on me. So I wandered into the living room(just off the dining room) and watched tv(they had multiple subscription services, but I only have Hulu Plus so the data analyst helped me set that up) and I just lay on the couch and chilled till about 6:30, when my G5 (phone) started telling me that I was trending down into the lower 70's. So I went back to the dining room, they checked me (83), and fed me two glucose tabs. 30 minutes later..checked again, 95. Fed two more glucose tabs. Calibrated study Dexcom. One of the study physicians had arrived (he is the medical director), and he set up the study pump (a Tslim) and synced the pump and cgm with the Artificial Pancreas. (run off an android phone) He put in the infusion set,(in my abdomen) because it was a straight metal needle and I'm not really comfortable with those sets.

This is what my abdomen looked like at that point.



(lovely, nu?) Normally, I don't put sensors or sets in my abdomen because of scar tissue..but they were insistent. My G5 transmitter was on my outer thigh,well out of the way of all this get up.)

I then removed my old pump so I wouldn't be getting 2x the amount of insulin needed, and they gave me the official Fanny Pack of these Artificial Pancreas games.



It was quite roomy, which was good because I had to keep the Android phone, study cgm, and insulin pump in there at all times. Inevitably my personal phone and glasses also lived in there because I still needed to be able to view my cgm data,(the study physician and multiple people had told me this was fine) since the study cgm was blinded,and not doing me a whole lot of good with the personal diabetes management.




Upon further inspection of the pump,it was revealed to me that it was a prototype punp and only had those two screens. And the study cgm was a special prototype as well, the data was blinded from my view. It was a lovely "pumpkin spice" fall color..not your regular blue/black/pink receiver.

It was amazing, holding the AP phone in my hand.(much like holding a newborn for the first time) I got this rush of "Hello, future!" and maybe even a little teary-eyed as I cradled that piece of technology in my hand for the very first time. The study doctor repeatedly told me how very appreciative they were of me (etc.)and not that it was needed, because I would have jumped at the chance regardless but it was nice to hear. (this particular trial arm had just been approved so I was #1 and a great deal of protocol-reviewing went on) On the table, there was a document for the protocol of blood sugars/ketones/seizures/what have you that had every possible scenario. Under 80 and over 300 there were much more in-depth,involved checking/treatment. Any seizure, nausea/vomitting, blood level of ketones on HIGH or two blood sugars under 50 put you out of the trial. The side table was stocked with 4 glucagon kits, testing stuff, Dexcom stuff, 8 glucose liquids, 4 large jars of glucose tabs and other random diabetes supplies.(I brought my own insulin)

 (Ready for anything!!!)
It was then time for supper- a microwave dinner of some chicken/pasta type thing and a couple strawberries. I guessed the carb amount, and entered it into the Artificial Pancreas screen along with my blood sugar. The AP gave me a suggestion (based on my entered insulin: carb ratio) and I confirmed that suggestion. I ate dinner, while everyone stared at me.(or rather, talked. Talked a lot.) The study doctor left, the tech guru left, the data analyst left, the other RN left, the study coordinator left, and the clinical coordinator left...leaving the overnight RN and the monitoring technician. (my cgm data went to the "remote monitoring" computer that they have (aka laptop), so that they could see my data whatever I was doing.) I was very tired so I went to bed, before the recommended 11 pm time. At 11:20, the RN woke me up to check a blood sugar because remote monitoring was showing me over 300.(which is their "confirm with blood sugar and correct" point.) Since this is the control admission, I was the one inputting the data and determining the dose to take. After that, the signal between the cgm and the AP went off the grid so the tech and the nurse were both trying to figure it out (involving a call to the study doctor to let her know my blood sugar, since it was 300, and actions taken.) Blood ketones were checked again(2nd time) and it was 0.2. I entered everything into the pump, took the corrective dose, and eventually fell asleep. 

(Breakfast. Some omelette thing,2 strawberries,and my Diet Coke Zero.)

That dose worked, and by morning I was around 150. I had to eat breakfast between 8-9 am (protocol), so I wandered out to the dining room to check a blood sugar, guess the amount of carbs in the breakfast, and bolus through the AP. Most everyone from the night before had shown up again so I figured this was the core data analyzing team. (names were not sticking though. Ever meet 10 new people in 12 hours?)
Exercise was scheduled for 10:30 am, so there were a lot of things that had to take place before then. Two new RN's showed up and the night RN left. The study MD talked to me about the politics of research studies,the FDA, and of the many "agreements" that had to take place between various companies to make said technology shareable between pumps/cgm systems. Another research study (Medtronic) was going on, and had essentially taken up their regulars (wine and dine baby, I confess to getting a little jealous when I heard that Medtronic is paying $1100 for their research study AND PUTTING THEM UP IN A SWANKY HOTEL AND GOING TO NICE RESTAURUNTS), which is why they are calling the out of town people (aka me) because you can't be in two research studies at once.(I'm the back up plan.) Don't get me wrong, any AP research study is better then none but eating crappy microwave dinners and being reimbursed slightly more then the cost of your gas pales in comparison to the above. Regarding the food, apparently the chef was on vacation that weekend but the microwave dinners just kept getting worse. So much so, that by Sunday afternoon I just wanted to leave and never eat food again. The data analyst (also a type 1, who had been involved in the Medtronic AP studies) told me to get involved in the Medtronic studies..because they are that swanky. (That's going to be my life goal, when I exit this one.) Most of the people there were either RN's, going to RN school, or type 1's themselves. (there were two type 1's) So even though there were no other patients there that weekend, we had some pretty great
"exchanging of war stories" (which is wont to happen when you get PWD together.) It was a very friendly, jovial environment. (Everyone is on a first
name basis, even the MD's. Patients are referred to by their first names, because of HIPPAA, and anything you choose to disclose to other patients is up to you but you do sign a waiver stating you accept any loss of privacy (aka there's lots of loss of privacy when you've got people swarming over you day and night.) Killed time for a couple of hours,and I then changed to exercise clothes and they put a heart rate monitor under my ribcage which effectively cut off all meaningful breathing.(too tight) A cab (van) showed up and we then all got into it and went to the UVA gym.

(the bag o' Diabetes Crap that RN #2 carried out)
At this point, another MD (I know this MD from past studies, I met her in 2003) showed up and we went into one of the gym's rooms (with a lot of exercise bikes) The heart monitor stopped working, and no amount of tweaking things was getting it working again. The sole other occupant of that room stared at me and my entourage. (probably thinking, what the what?) Checked a blood sugar, decided to eat a snack bar/drink water/and not bolus.

I confirmed with the MD that I wasn't bolusing for the snack I was going to eat.

Got on the bike. Pedaled for 15 minutes: goal heart rate 140. Heart Monitor and Fitbit went in and out of not working, so one of the two RN's that was monitoring the bike situation placed her fingers on my wrist to check it manually. When 15 minutes were done, they helped me off the bike and onto a chair. Checked my blood sugar. Gave me water. Let me rest for 5 minutes. Checked my blood sugar again. Got back on the bike-pedaled for 15 more minutes (goal heart rate 140). Helped me off the bike, blood sugar, hydrate, five minutes, blood sugar. Got back on the bike-15 more minutes, goal heart rate 140. Back off. Blood sugar. Hydrate. Rest.

Blood Sugar Progression:

7:16 AM: 240 (correction given)
8:15 AM: 183 (breakfast bolus given, based on suggested dose)
11:14 AM: 176 (start of exercise. Ate a 15 carb snack bar.)
11:32 AM: 160
11:37 AM: 166
11:54 AM: 153
11:59 AM: 158
12:15 AM: 143 (end of exercise)
12:43 AM: 166. (Lunch blood sugar)


By that point, I was more then done and really tired. (I'm not a spring chicken anymore) I could see why they do an EKG before starting the study, because heart rates of 140 are no joke if you aren't used to them. The seat was also exceedingly uncomfortable, so between the seat and the creaking of my knees I felt like I was 90 years old. Everyone was pretty supportive though (even if they didn't have to reach a HR like that when they pedaled on the bikes),laughing and keeping me otherwise amused. (except for the whole not breathing thing) It felt really great to take that horrible constricting HR monitor off. Boarded back up in the cab, back to the research house.

Lunch was extremily horrible. It was a giant burrito, and it was extremely dry and tough. I literally had to force it down my throat but at some point I just couldn't do it anymore and told them that. (No butter or sauces were permitted, because that would alter the caloric count) You are supposed to finish all your food but it just wasn't happening. I told them that it was going to come back up if I did that, and the RN disposed of it in the trash can.

By supper, my appetite still hadn't returned. I forget what was served but it was along the lines of pasta/chicken/soooo dry stuff and I put off eating till the last possible time that protocol allowed, because my appetite had officially died. The RN tried to make it appetizing(sprinkling the Parmesan cheese on it, putting it on an attractive dinner plate) and that helped slightly but it was a struggle. Post lunch, at 3:30 PM I was 254, I requested a correction and my blood sugar was 293 at 4:10 pm. Eventually, it went down to 155 at 6:42 pm. I "estimated" the supper carbs extremily high, because I was getting sick and tired of the highs and reaching the "I want to rage bolus this down" stage. That seemed not to matter one iota, blood sugars at 9:37 pm (185) and 11:01 pm(183). Corrected for the 183, which the night nurse wasn't too thrilled about because I supposedly still had insulin on board but I did it anyway. The night nurse was also a Labor and Delivery nursing instructor and she asked me about how pregnancy had gone. It felt truly weird to be complimented on an "excellent job" for having a normal weight baby,when so much of that just felt like dumb luck. Oh,I did work hard(12-15x a day checks were the norm) but it still felt like luck,that there were no serious complications. Sure she "got it" on some level but I'm not sure I deserve to be complimented for luck. It was slightly weird,because it puts you on a pedestal you don't belong on.

 At 4:56 am, I woke up feeling high as a kite(G5 had me at over 300) so I wandered out to the dining room and requested a check. This didn't suit too well with the technician because remote monitoring was showing me at under 300, and they thought I was supposed to wait till I reached over 300. So they had to call one of the study doctors, who told them to let me correct. I blood tested (275), took the suggested dose of insulin through the AP, and by 8:25 AM was 163. I didn't try to go back to sleep because it was pointless, I was good and high and awake. Breakfast. Protocal that day said that exercise was to be about 1 hour after breakfast, but because the cab company ran late it was 10:08 before we all got to the gym and began the exercise.


(heart rate readout device)


(Exercise bikes)

10:08 AM: 247
10:25 AM: 216
10:46 AM: 193
11:07 AM: 174

This time, they just checked once after each of the 15 minute exercise bouts.(and obviously, I did not eat a snack before hand, because I was high) The heart rate monitor worked just fine and I could see my HR as I pedaled.



Dance party! (these are the best people. seriously. they experienced my pain right along with me. And the music helped to get my HR up there.)
Back to the research house, where my pre-lunch(12:29 pm) checked in at 193. Post-lunch: 236. (3:59 pm) At that point, it was officially the end of the study and the tech person gave me instructions about setting up my account on Diasend. (to send pump, blinded cgm, and meter) I am also supposed to sync the Fitbit to the app once a week, to send that data. Another study doctor showed up and removed the pump, and I put my old pump back on. Gave me a packet with pertinent log-in info, and telephone numbers to everyone. The study coordinator then gave me cgm sensors, the study meter, 300 strips,3 cables(to download data), the Fitbit, and the blinded CGM receiver. Loaded me up on snacks for the road and I then drove home. In approximently one month, I return for the closed loop admission-and will see how well the AP controls my bg. It's going to be slightly nerve wracking for me because I'm trusting a machine, but at least the protocol is in place to be watching me 24/7 to make sure I don't go to far in either direction.


Team Artificial Pancreas,forever.( I will probably save this can forever..I find it interesting that all their Coke Zero cans said this.) Until we meet again.


Friday, September 18, 2015

A New Diagnosis

On Monday, I awoke,took my child to the baby sitter(as schools were closed for the Jewish New Year) and came back to a voicemail on my phone.

"call us immeadietly." (Signed, Genetics Dept.of University)

I called. I knew in my gut they were going to tell ME I was the reason for my child's genetic condition because that is how it is,my husband is the largely healthy one.

"we got the results back...

Breathe.

And you also have the 17Q12 deletion."

Well, joy. And does this mean I have MODY as well?"

"yes,but we need to communicate with 
Dr.S (adult geneticist-it was J's genetic counselor who called me) to formulate a plan of action that will also involve your endocrinologist."

I didn't cry this time,because frankly it makes perfect sense that the weird health stuff that has happened all my life beginning at babyhood when no one could figure out why my head was so large and I only wanted to sleep,not eat.(many tests later) was in fact related to a genetic condition. Or why my spine is not straight,or the tinnitus that began when I was 12 years old. Or why I've gotten chicken pox, Shingles,and Lyme disease in my first 20 years of life. Or why the diabetes came on over 6 months and the magnesium issues as well.

New Diagnosis: 17q12 micro deletion. Magnesium issues from that. Not Bartters Syndrome. Probably not type 1, because it specifically encodes for MODY 
5 diabetes. Like,basically impossible to have type 1.

Basically the news feels like I'm a freak of nature,because this happens at the very basest of levels. I don't know if this effects lifespan (I'd like to think it doesn't but who knows) and the MODY 5 puts at risk for liver and kidney dysfunction. I guess the good news is that I have above average IQ, it hasn't effected that but can it? Also the chances of passing it on to offspring are 50/50.(hence the reason J has it,& it affects people different ways so that some people cannot live independently.) I'm already being monitored by a kidney doc,but there will be a whole new care plan with aspects of what I might be likely to get.(Different from J's plan,as they don't know what his level of functioning will be as for now he has none of the physical problems.) My Endo will also collaborate with the geneticist as it may be possible for me to take some oral medication with insulin,to lower the amount of insulin I take.

And that's where that's at. I'm still kind of stuck in the disbelief stage. (With all of this) And dealing with the knowledge that this was no random error that caused me to give it to my son.
Diabetes still sucks & these waters are uncharted.(read: mini identity crises if I no longer fit in the type 1 world)

Sunday, August 16, 2015

Wondering "if"






 My head knows it's impossible..but on days like today and yesterday,my heart whispers "what if? What if you weren't type 1? What if pills were a possibility? What if everything you ever thought you knew about diabetes control is just another option?"

I ate 200 carbs yesterday. 150 today. My sensitivity is through the roof.(Mostly that is because I was doing a grueling flea market prep,actual 7 hrs at flea market,& then carting the remainder home.) Hot weather,& exercise have serous effects on my bg. 14 units as a TDD is hardly a cure,but it is 10 fewer units then I'd normally need for such a day. It's not the first time I've needed much less insulin,I have these times when it's actually under 10 units. I think that if I tried something like Invokana,I'd be even more sensitive to insulin.(I'd consider that as a good thing..the more sensitive you are,the less you need,& the less you have to worry about extreme hypoglycemia.) As someone who had one such unpleasant event last month,and who barely avoided the ER I am a fan of the less IOB,the better. 6 units on board when you are as sensitive as I am is not a good scenario.(Never "double correct" for a 340. It was scary,as I couldn't eat enough to stop the drop.) I really want to discuss starting Invokana with my Endo.(Along with glucagon scenario plans. Mini Dosing in adults doesn't do enough. )

Bottom line is,I want my D to become more easily controlled..it's not that I consider insulin to be evil. It isn't.(you need what you need) Low carb does that but I love my carbs,and would have no energy on such a diet. Yeah,I do eat low carb some meals but I balance it out with the others.
 
Bottom line is..your diabetes may vary. And you need to find the best option for you.