If there is one thing Angela has done for me throughout her 19 1/2 years on this earth, its to build my understanding of medical terminology and anatomy.
Angela had an ultrasound yesterday, and another more detailed study today. We're looking for something very specific, and we're hoping we find it. We need to find it.
Our vocabulary lesson for today includes the following term:
On ultrasound, it appears that Angela has an obstruction of blood flow within her liver. Liver blood flow should be smooth, and pulse with the heartbeat. Angela's liver blood flow is turbulent, meaning it is being blocked or hindered by something. The body's blood supply needs to go through the liver to be filtered of waste products, including ammonia. When the blood flow is "shunted" (diverted) in any way, that blood is not getting filtered. That would cause her ammonia levels to spike and fall continuously.
Orders have been written for her to have an MRI under anesthesia (because it will take a long time and she can't lay still that long). We're hoping it can be done tomorrow but if she isn't stable enough we'll have to wait until Monday.
Please pray this is it. There are a few different ways to address a liver shunt, some more invasive than others, and they all depend upon where, how big or small. If we can solve the problem it is curative. That is best case scenario and its what we NEED to happen.
The team of Angela's metabolic geneticists have a theory about why she keeps having bouts of hyperammonemia, and why even after treatment she quickly spikes and needs another treatment. Get this...
If their theory is correct, it could be
curative.
CURATIVE.
We are afraid to get our hopes up. But prayers. Oh please pray their theory is correct! It would involve a major and invasive procedure, but it is far better than the way Angela is surviving now!
When Angela was little and had her first g-tube, I made special gtube pads for her to help keep her site clean and infection free. I don't have time for that anymore, but thanks to Amazon and Etsy, I have found a seller who makes GREAT pads! Cutie Button Pads
These pads come in a variety of fabric patterns appropriate for little kids as well as teens and adults. Angela LOVES to pick out her clean pads, and I love I can just toss the used ones in the washer!
Angela in the PICU is feeling well enough to pick out her clean Cutie Button Pad
She found her choice for the day. The soiled one will be tossed in the
washer to be used again another day.
Now Angela has a new gtube, and spends a lot of time in the hospital. Her nurses are always surprised to find a cute pad on her stoma site, and they love the patterns! They are always impressed at the condition of Angela's stoma, with none of the irritation that comes from the medical gauze pads.
So I am starting a new project. I would love to donate a set of new pads kids who are getting a new gtube, and their parents who are learning to care for the stoma for the first time. I have created an Amazon Wish List with pads from Cutie Button Pads, the seller who makes the ones I buy for Angela. I have NO connection to this seller other than I like her button pads and they're the best I have found! If you would like to purchase a set of pads from the list, they will be shipped directly to me. I think you can include a card that says who contributed the pads. Thanks for helping care for these kids!
Last week when Angela was here at the hospital, some darling person was going around popping out the elevator call buttons. The first time I found one I went to grab someone to see how to get the elevator to come up. He was all "oh, go ahead and put your finger in there and push it. It works." And I was all "Umm I am not putting my finger in there with wires and stuff." and so he did it. The next morning when I came back he had taped up this sign. Go ahead, put your finger in there!
There are two cafeterias here. One is part of the Children's hospital but the hours are strange and they never seem to be open when I am here. And yet, I'm here a lot! Most of the time I walk down to the joining adult hospital because they have a cafeteria that seems to be open 90% of the time. Anyway, the woman who seems to be in charge at the Children's cafeteria needs to find some humor in her life. Seriously, she is the most crabby person I've ever met here at the hospital. I'm one of those annoying people who have to crack a joke about the dumbest things and I have never been able to get a smile out of her. One day a few weeks ago I even said, "Smile! It is a beautiful day outside (and it was!) and we're alive and breathing!" and she just started at me. I have even tried signing to her in case she has hearing loss and can't hear me. Nothing. No response. (I have heard her talk to people, by the way) I have now made it my mission to make her smile. I think today I will bring her some flowers.
Years ago, before HIPPA became the law of the land, it was fun when visiting a hospital to go up to the maternity floor and look at all the new babies in the window. Do you remember doing that? I wish that was still allowed. This hospital has a new Mother and Baby center that just opened. Its fun to see the moms coming in who are in obvious labor and know in a few hours there will be a new baby in their arms. Its energizing to me. I also get to see lots of people leaving for home with their new babies, and the first-time parents with a TON of stuff to bring home with them. I've also seen people who have obviously been here a very long time, probably in the NICU, with their babies and have months worth of things they've collected in their hospital rooms. I'm so excited for them going home, even though I know its probably both exciting and scary for them, all at the same time. The entrance to the Mother and Baby center is right next to the elevators up to to Angela's room. I wish I could find a way to sneak in there and see the babies!
Sitting in the PICU with Angela makes me so aware of how lucky we are. We have amazing healthcare available to us, something that is not the case world-wide, or even in our own back yard, sometimes. There are people here who's kids are so much sicker than Angela. I mean, we made her sick by giving her drugs to clean out her blood. It is a mostly-predictable process. (other than the fact she didn't respond!) But there are kids here who are several hours away from home, their parent or caregivers living at the hospital with them. We live just a few minutes away. They are recovering from major trauma, sudden acute illness, or sometimes and end-of-life process. Last night there was a very large family sitting out in the family waiting area which is next to the elevators. Many of them in tears as they try to process what is happening to their loved one. I said a prayer for them all as
If you're not on Facebook, you missed the fact I messed up my back sleeping on the pull-out bed thingy in Angela's room. After a trip to the doctor I'm feeling a bit better. Still, the hospital needs a full-time massage staff. Parents go through a lot with their kids here, and the stress takes a toll on their bodies. A massage every couple of days would be a good thing!
And someone to cut hair! There are so many parents here who can't leave. I have met a few in the last few months who have been living here with their kids, who are feeling desperate for a haircut, but don't feel comfortable leaving the hospital.
All you g-tube parents reading: When Angela got her gtube I started buying gtube pads made by various sellers on Amazon and Etsy. I found one I LOVE!!!
Angela's nurses are always commenting on the condition of Angela's stoma, and how there is never any granular tissue or skin breakdown. The pads I order come in a variety of fabric colors and patterns, for both boys and girls, babies and older kids. I would love to be able to donate a set to new gtube parents who are just learning to care for their child's stoma site. I created a wish list on Amazon if you would like to help me out with this project. You can find the wish list here.
A HUGE shout out to the groups from the Ronald McDonald house who love to feed the families!!! Ok, most of the stuff is not on my approved food list, but its still a great way to take care of people who are really stressed out and tend to eat junk food while caring for their sick kids. Personally, I have not eaten fast food in a month, which is probably a record for me.
Why has the second floor parking pay kiosk thinging ALWAYS broken? I have never yet seen it working. It makes it confusing for people who don't know their way around here to pay for parking and then find their cars.
Shhhhh I have learned how to park down here for free.
Angela is waking up. Time for me to go back to mom duties!!!
A quick update for those friends and family who aren't on Facebook.
Yesterday morning Angela's ammonia level was coming down, but only very slowly. Then around noon they started spiking again, and by 1:00 she was sleepy and struggling to stay awake. (she does this by talking NON stop! But if she stops her eyes are immediately closed and she's out.) Finally around 3:00 we found her levels to be in the 140's (goal is under 50) Unfortunately that means she has to have another 24 hours of the Ammunol, with the addition of Arginine. Overnight her blood sugar is all over the place so she is off and on Insuline, plus is on lipids and other stuff. I'm looking at her IV stand now and there are 7 bags hanging. Thankfully at the moment she is sound asleep. I wish her whole night had been like that.
She'll be on these two drugs until around 7:00 pm tonight (Weds Jan. 20) and we'll see where she's at. I can't even imagine if they had to do a 3rd round of the Ammunol. It would truly be terrible.
A bit if a funny. Sometime in the night Angela's bed discovered it has a mind of its own. Suddenly the head would raise, or the foot, or the whole bed would lift to the highest position, then back down to the lowest position. Its not Angela doing it. She likes her bed in a certain position and does NOT like it to be messed with. Girlfriend will be getting a new bed today.
When Angela was diagnosed with a Urea Cycle Disorder, we were told exactly how dangerous it is, what the warning signs are, and to get her in for treatment immediately, etc. Scared us to death, of course, but we got over it and moved on. We know that Angela is at risk of having another episode if she gets so much as a hint of a cold or ear infection, much less a serious infection such as another round of aspiration pneumonia. Or, you know...sneaks a cheese stick from the fridge.
On Monday the mail brought Angela's emergency protocol. A 12 page document put together by her metabolic geneticist. This protocol stays with us, and with Angela at all times. It is our ticket to immediate treatment should we find her in crisis again. UCD's are very difficult to diagnose, and clearly for 19 years nobody ever thought to test Angela for such a thing. Walking into an ER with a chatty, charismatic young lady doesn't help when the mom is saying "No really. She is very sick."
When we received Angela's protocol in the mail, I read it to Dean. My stomach went into knots of anxiety. To see the words in print was very sobering, indeed.
"This acute illness protocol is a guideline for healthcare professionals treating (Angela), a patient known to have hyperammonemia related to suspected Urea Cycle Disorder....
Metabolic crises in individuals with urea cycle disorders are complex medical emergencies amd must be treated as such to avoid death or serious brain injury....
Angela can rapidly decompensate even if she looks stable or only presents with an apparent minor illness. Therefore, she needs higher acuity triage in the emergency room and needs to be immediately seen by a physician. Please discuss her clinical findings with (insert physician group name) on call ASAP by calling the number listed below."
Gulp
The protocol goes on to list what specific tests to do upon admission, EVEN if Angela appears "fine" to the ER doctor examining her. It lists, step by step, which order meds are to be given, and under what circumstances the various meds should be given. It is all very clear.
So Tuesday, January 5th, I brought a copy of the protocol to Angela's school so it is available for the staff and first responders should they need to be called, or anyone else who may come into contact with her in a medical capacity. When I arrived school staff told me she had complained of being cold, so she added a sweatshirt. She also had a bit of a headache. And at one point in the morning she just decided to leave and walked out the door. Hmmm The "Old Angela", before being diagnosed with OTC, would have done this on a daily basis, but the "new Angela" would never act like that. I decided to bring her into the ER and have her ammonia levels checked. "Just getting checked out" resulted in a one week hospital stay. It seems her meds and feeding schedule needed some tweaking. This is a bit of a learning process for all of us because every patient with OTC responds a bit differently, in addition to having the endochrine system of a person with Down syndrome. And, I know you won't be surprised when I say Angela isn't quite following the rules. She had her blood drawn every 8 hours for seven days (and she kept a running tally of pokes, announcing to the lab tech what number they're on. She is getting tough to get blood on.)
Angela's goal ammonia level is below 50 and we struggled to get her there. She was finally discharged at 63. She was a bit irritable but otherwise ok. She went back to school on January 12 but it was a rough week. On Friday she was hitting staff and just not herself at all. She did go to a dance on Friday night, with both Dean and I as chaperones so we could keep a close eye on her while also making sure she didn't eat anything there. Saturday she was a BEAR, and Sunday morning not much better. But, when I gave her morning food on Sunday (yesterday) I notice she had a bit of a stuffy nose and her eye was kind of gunky. Very minor cold symptoms that under normal circumstances I would barely bat an eyelash at. But this is Angela, and even a simple cold can land her in the ICU.
We have three different formula recipes to follow for Angela's feedings. 1) every day "she's doing great" 2) 5 grams of protien, for days there are special events and she is going to be eating more than normal orally. It allows her to have 5 grams of protein by mouth and 3) sick days recipe. If she starts showing signs of illness - even these minor cold symptoms - we switch her to this one. So on Sunday at her 11:00 am feeding I switched to her sick day recipe, but knowing it was already too late. She was headed downhill and was acting sleepy. At about 1:00 I called her metabolic Dr and we agreed it was time to go in for levels. We're having record cold here in MN (It was -18 here ) so nobody wants to go out unless absolutely necessary!
I wasn't surprised when we got her levels back to find she was at 95. If she hits 100 she has to go back on Ammunol, which is that super expensive ($100K per dose!) drug to clean her blood. She was moved up to a room pretty quickly and we took labs again, which showed her at 52. WAH???? Everyone was confused and scratching their heads. One of those levels was wrong. Because of the way ammonia levels are processed, we know the high one would be incorrect. We drew again this morning (January 18) to find her at 112. Oh, but the doctors felt that was incorrect so they drew it again and she was 123. She is clearly symptomatic (she can barely keep her eyes open to carry a conversation and she looks like she's been hit by a mack truck).
So here we are. She has just been moved to the PICU. We're getting ready to put a PICC line in then the Ammunol will be started. This drug makes her very sick. She will sleep through much of the first 12 hours. She won't be able to walk, or talk, and is just a very very sick person. She'll be on/off insuline and a couple other drugs I can't remember.
Last night the metabolics doctor said he wanted her to get a port because she is getting really hard to get blood from. She is just poked too much and there are too many errors. The port will change all that. Unfortunately she isn't stable enough right now to have a port put in, so PICC line it is.
So to clarify, if you have lost track, of the last 10 week Angela as spent a combined total of 6 weeks in the hospital. Now that she is starting Ammunol, that will run for 24 hours, then it takes about 12-18 hours for her to stabilize enough to be moved out of PICU. After that is several days to get her back to baseline before she can be discharged.
This is it. This is Angela's new life, and our new life. Our new normal. We need to find a way to live with this new normal, and we need to find a new routine that works with dropping everything so that Dean or I can be at the hospital while the other is with home with the rest of the kids.
And just as aside, if the PICU doctor says "ummm" another time I could lose it.
I'm so thankful my kids will eat anything set before them. Oh, but don't think it has always been this way. Each of the kids we adopted came home with his or her own eating or feeding issues. Axel was the only one who knew how to chew or drink from an open cup. Even Amos, who had been in out of the institution for 2 1/2 years before coming here in May didn't yet know how to chew. Some wouldn't eat meat because it was a new texture to them. Raw vegetables? They're a lot of work to chew.
So how is it I have such good eaters now and have gotten into the horrible habit of giving them junk for snacks after school? Somewhere along the way it happened and it is time to stop. I love this video. Amos and Audrey eat up these veggies like little rabbits. (and those who are watching from the therapy perspective, you'll notice a MUCH improved mess factor for Audrey. That is because Mom instituted "Dinner time bootcamp" again, only I raised the bar.)
Today was kickoff day with my new workout team. Yes this is both an individual and team process. The group of 40+ women is broken down into three squads, and a couple times per month we do squad workouts (think biggest loser team competition). I love this part because it will keep me accountable to them.
Today I mostly had my ass handed to me. Oh Dear Lord I can barely move tonight.
First we had introductions. Most of the women are existing members, then there are 8 or so of us who are new and doing the 5 month challenge. In the entire group I am at the more...ahem...older or "mature" end of the group. Even so, at 48 there are several women who older and the rest have a wide range of ages. Let me tell you though, the women who are older than me are in amazing shape and will take you out!!! Today during kickboxing I kept reminding myself that one day they were new, out of shape, and not bouncing around the gym floor. One day they had cement in their shoes the same as me!
The very first exercise, which was done with partners, reminded me that I hate working out. Here is the coversation I had in my head:
What the hell? It is not truly possible to get from the floor to standing like that at my age.
(Glancing at another memeber.) Hmm, she is older than me and doing it.
Oh dear Lord are we almost done? What? Not even 1/4 of the way.
I cant keep coming here. They will kill me. Oh but crap I already paid for it and Dean would kill me if I turned tail and ran.
She has amazing arms! Remember a few years ago my arms looked like that? They will look like that again.
Dang I just peed a little. I wonder who else is peeing here?
My ass is bigger than this matt. Wonder how long it will take me to fit on it?
GAWD I want a Mountain Dew!!
So when that was done we started the kickboxing class. Pretty sure I am missing some joints in my back since I can't move that way. But I will keep doing it. Because I must.
Then we newbies had a nutrution class. Oh man, so much to change. Never off duty, I did discover some things that will be helpful to Angela.
I came home and was afraid to sit down for fear I wouldn't be able to get up again. Tomorrow is going to be rough, and Monday I'll be at it again. I can't wait to get past this phase that is so painful.
When I was diagnosed with breast cancer, and contemplating having a single or double mastectomy, I spent hours upon hours scouring the internet for before, during and after pictures. What was I in for? What could I expect for an outcome? What was the rate of failure? What are the complications?
Those pictures were hard to come by unless I wanted to join private forums or groups. I watched videos of women who proudly displayed their scars. Some as a form of awareness, some as a badge of honor, most as a combination of the two.
I need you to know that underneath these clothes I don't look "normal". If you're on my Facebook page I'm sure you remember the fun discussion about ordering nipples online. (I chose not to have reconstructed nipples.) I chose many things along the way, and I don't regret one single choice. Could I still develop breast cancer? Yes, I could. At the moment I'm not taking my aromatase inhibitors because they make me so sick. I hate them. I can't live life on them. But, not taking them puts my risk of recurrence quite high. I just have a really difficult time dealing with the fact I'll be miserable for the next eight years on those drugs. Anyway, a friend of mine saw my pictures privately and was shocked at the process. She had no idea. Even though these surgeries were brutal (some of my wounds made Dean weak in the knees) I walked around as if I was all fine. I had to. I have a family to care for.
So I'm thinking about it. I'm thinking about posting a series of pictures showing the process, starting with my first surgery. I'm still debating. Its very personal decision to put myself out there like that. Anyway, its just something I'm thinking about doing, just don't be stunned to show up here one day and that's what you find.
For the last 29 years I have done what mothers around the world do; I have taken care of everyone else. The last five years have been even more intense, working on bringing kids home and parenting through some really rough stuff. Then 21 months ago came cancer, and I found myself in for the fight of my life. "Taking care of me" meant keeping me alive.
Now it is time for me to turn the tables. Oh, I have made half-hearted attempts in the past, but this is
it. This is the time for me to take care of me, from the inside out. Getting rid of all the left-over crap that hangs on my body, and replacing it with a new, healthier version of me. One who has the energy and ambition to keep up with the life we have created here. The commitment has been made. My trainer(s) are waiting, the weights are waiting, the cycles are waiting, the sweat is waiting, the pain is waiting.
So here is my "before", for all the world to see.
Bring it on 2016.
Bring. It. ON!!!!!
And high praise for my plastic surgeon who gave me new boobs!! If you're in the twin cities area and need a referral for a surgeon specializing in breast reconstruction, hit me up!
I would like to start this off by wishing everyone a "Merry Christmas"
I like to cook and on occasion I will make things from scratch, like chili, (okay, I haven't made it for a long time because Leah doesn't like it. No I don't need a new recipe because she just doesn't like chili), spaghetti, lasagna, stews, cookies, brownies, etc, etc. Unlike Leah who buys everything already made or "just add water" type of foods, or orders delivery or take out. Anyway, I learned a few things tonight while making those green wreath things with the little round cinnamon candy on them.
First, don't wait until the last minute to start making stuff. The stores wouldn't have it. I checked 4 stores for those little candy things! I could not find one package of them. Not the Dollar store, not Cub Foods, not Big Lots and my least favorite store Walmart. The guy at Walmart didn't even know what I was talking about.
Second, make sure you have everything you need, before hand, Here again I needed some ingredients that I forgot, like wax paper and a can of Spam, oops I mean PAM. Where did I go? You got it,Walmart. Wouldn't you think that wax paper would be in the aisle with the baking goods? Let me tell you, it's in the aisle with paper plates which is the aisle next to the dog food, away from the grocery part of the store.
Third, never ever measure liquids over what you are making. I didn't think that hole in that little jar of almond extract was that big.(Make sure you close the top good because that stuff pours out really fast when it tips over), I think I put three times the amount it called for.
Forth, marshmallows. Never ever put four cups of marshmallows in a four cup measuring container and put in the microwave. That stuff expands big time!
Fifth, I figured I screwed up the first batch so why not try another batch? After measuring the green dye the almond extract and vanilla extract, make sure you put it all in. I didn't. I think I was gun shy because of putting to much almond extract in the first batch and the smell of the almond extract I spilled on the counter made me not want to put it in like the recipe called for. Lets just say they aren't very green.
Sixth, ALWAYS measure your corn flakes. I figured I had a good eye for measurements and I found out I DON'T. I didn't have enough stuff to mix with the corn flakes and now not all of them are green colored.
I'm thinking of starting a cooking school. Does anyone want to enroll??
P.S. I also found out that milk chocolate chips melt better than semi sweet chocolate chips!!
Sooooo many people have asked me for updates on each of the kids. I thought I'd start with Audrey since I found something today.
On April 15, 2014 I posted this picture on Facebook.
Doesn't she look like an angel?
I don't remember taking this picture.
I don't remember this dress, though Dean says it was sent to us by a friend of mine.
I really don't remember much of Audrey's first 6+ months home. Lost in a chemo-induced fog, going through the mechanical motions of each day. Taking care of the kids between naps. Feeding the kids between naps. Sitting outside, trying to soak up some sunshine until I could excuse myself from life for another nap.
I do remember one day in particular when I was trying to potty train Audrey. WHY in the WORLD did I choose THEN to potty train her? Did you all think I was crazy? Someone should have slapped me. Anyway, I had underwear on her and a potty chair in the middle of the living room. I was doing my usual "no pants" day, which is how I potty train my kids. Suddenly I thought, "Why don't I have a pull up on her instead of underwear? Yes, she might take longer, but I can barely get off the couch much less constantly be cleaning up puddles on the floor." Such a simple thought, but one that was so difficult for my brain at the time. Audrey was fully potty trained just a few days later.
My friend Ann came to help me on a couple of my really bad days. I remember sitting outside in the fresh air so thankful my friend was there when I had to make several mad dashes to the bathroom. And she brought me desitin which I desperately needed.
I have to go back and look at pictures to have any idea of Audrey's progress during those first months home. I know from videos that her communication took off, and she was so excited to have a way to tell us what she wanted instead of just pointing. Her love for music is something to be reckoned with, and she can usually be found with an iPhone in her head, and occasionally a small blue-tooth speaker that she can carry around the house. Although, it doesn't really matter if there is no music playing at a give moment, because Audrey has a song in her head at all times. She never stops dancing her own little jig, singing some crazy tune that often sounds like a Native American spiritual dance. She has been so very happy and excited to see the world.
But a couple of months ago things started to change. I'm not sure exactly when, as we were a bit pre-occupied with Angela and probably not noticing some of the more subtle changes. Finally, there came a day when I said to Dean, "I think that Audrey is regressing."
It is very common for kids with Down syndrome, as well as post institutional kids, to make big gains, then regress a bit in one area while they're working hard on another. Kind of the "two steps forward, one step back" concept. Two weeks ago we had Audrey's IEP meeting. We discussed some changes to her programming, and I expressed my concerns about just teaching her to function in the world, and lets worry about the academics later. Audrey is developmentally around 16-18 months old, and kids that age aren't sitting at a table learning letters and numbers. Her classroom staff is excellent and in complete agreement. They know what they're doing, and I'm so thankful to have staff working with my kids who truly do approach teaching as a team effort! Anyway, I also brought up my concerns about regression. Her teacher made it clear that Audrey has regressed in every single area.
Every. Single. Area.
So, here is where I tell you the hard parts about parenting Audrey, and to remind those adopting for the first time that the child you bring home may not be the child you have a year or two down the road. When Audrey came home she was SILENT. I knew she liked to sing because she did it with her foster family in Serbia. I figured the whole language barrier and new sounds she was hearing was too much for her to process. But now, a little over a year and a half home, Audrey is SO VERY LOUD!!!!!! Oh my word!!!! She chants. She sings. She screams. (not like a girl screaming when they play. This is a self-stimming noise that goes right through my spine!!) And when she screams a certain scream she is sent to "sit in the circle", while she laughs hysterically at our attempts to reign her in. She has also gotten very aggressive and will kick, hit, bite, pinch, scratch, spit, tackle, and put other kids into headlocks before you can process that is what's happening right before your eyes. While she smiles at you and bats her eyelashes. Thankfully she saves most of her aggressive behavior for school, laughing at staff's attempts to make her stop. I say "thankfully" not because I'm glad she's naughty at school, but because...well...it's 6 1/2 hours less per day that I don't have to keep an eye on her. We love this child fiercely, but we also need a break for the eyes-on supervision she needs at all times.
And....she....strips...!!!!!
I am pretty sure Audrey was a stripper in another life because she is so very good at being dressed one second, and when I blink my eyes she is naked. Or wearing someone else's pants. Maybe even the pants that person was JUST wearing and she has managed to get them away and onto her own body. While I blinked. This child can vaporize and re-appear in totally different clothes as we all sit here wondering what the hell just happened.
Stripping can happen anywhere, such as while we wait in line to see Santa. And I am holding her hand. And without ever letting go. I listen to her sing and feel her dancing around as I talk to the people next to us, when I suddenly realize they are looking down with their mouths hanging open And so I, too, look down to see Audrey smiling the biggest smile at me, and her jacket and shirt are now hanging from our joined hands. And her pants are at her ankles. And where the hell are her shoes and socks??????? This is something that happens multiple times per day. And don't even try to say, "You must not be watching her close enough" because it happens at school too, where she has a 1:1 staff person with her at all times. On the bus she is strapped into a harness for the 3 minute and 42 second ride home. When she arrives she is usually missing her jacket, shirt, shoes, socks and is working on her pants when they arrive at our driveway. How is she even able to do this strapped into the harness?
One of her best moments was when I had a county person here for a visit for one of the kids. Audrey was outside jumping on the trampoline when I ran to answer the door. When I ran back to bring the kids up to the house Audrey naked, laughing and jumping on the trampoline with wild abandon. I looked up to see the county rep. watching out the window, trying not to laugh.
OH THIS CHILD!!!!!
In addition to stripping, Audrey also changes clothes multiple times per day. We still haven't figured out if this is a sensory thing or a developmental stage. Probably a combination of the two. She will find anything to wear. I'm considering putting together a dress-up box for her, but really the "dress up as someone/something else" part is beyond her yet. She just wants to change clothes. I have taken all of the clothes out of her bedroom to save me having to pick up the mess of strewn clothes at the end of every day.
Have I mentioned that Audrey is extremely hyperactive? Now, Angela was very hyperactive when she was little, and there were many professionals in her life who, along the way, commented, "I have never seen a child with Down syndrome quite so hyperactive."
Let me tell you, Angela was a sloth compared to Audrey. Remember the cartoon of the Tasmanian devil? This is Audrey, on one of her calmer days. Complete with the noises.
And so, where Audrey is concerned, our focus over the next few months will be figuring out exactly what is happening in that pretty little head of hers. Maybe we won't find out at all (look, it took us 19 years to get Angela diagnosed!) but we have to figure out something to help her. She is not even functioning well in the world right now. In the meantime we're looking at moving her to a different program. Like I said above, Audrey's staff at school are excellent. But these kids with severe institutional delays, behaviors and attachment problems? They are no walk in the park and not everyone can be expected to know how to manage it all. We don't know how, and we sure can't expect her school staff to just know how either. Thankfully our district does have another option for Audrey, and I think it will be a very good fit for her. A place where she can learn to function in the world, and if she learns some academics along the way? That would be just great!
So that is my update on Audrey. She really is a beautiful little girl, but man, she is a HANDFUL!! I'm so very grateful we have to parental tools needed to get her to adulthood. To help her become the most independent she is capable of being. To allow her to see the world in all it's glory while the rest of us run to keep up with her.
Do you know what today is? Well let me tell you! Its the end of the season of my life called "cancer". Yes, I finished treatment ages ago (16 months ago, in fact), but I've still been dealing with this stupid reconstruction process. 14 months ago I had a bilateral mastectomy, and today I'm in surgery, having my horribly uncomfortable tissue expanders removed and replaced with implants. Also, because of the way breast reconstruction works, it also involves liposuction at the sides of the ribcage to even everything out.
Looking back at the last 20 or so months since I was diagnosed, there are some things I wish I had known. Here is a letter to that self.
Dear Me,
Today you were told the worst news you've ever heard in your life. You have breast cancer. You felt your knees give out beneath you as you best friend and life partner held you up. You sobbed the longest, loudest sobs. As you cried, noises escaped from your mouth you didn't know were even possible. Primal fear. What you are feeling now is primal fear.
I'm not going to tell you, "Don't worry, you'll be fine." because its impossible to not worry. You're going to spend the next few days (or even weeks or months!) numb. You will think you're losing your mind because you keep forgetting odd little things and can't concentrate on anything. Its ok. You're normal. Your brain is on overload and it can only process so much right now. Remember that primal fear? This is part of it. You are in survival mode. Don't worry about the laundry right now. If it doesn't get done the world won't end, but if it helps you by all means do it.
Start a list of questions for your doctor. Even if they seem silly, write them down.
Do NOT, I repeat DO NOT set any kind of timeline for when you'll be done with treatments and/or surgeries. There is no way to predict how each woman will respond to various steps in the process and its easy to get disappointed when your treatment or healing doesn't go according plan. Mine was supposed to be a "three month speed bump" in my life, and here I am 20 months later, just finishing up. Don't count on "you won't need chemo" or any other treatment predictors until EVERY test has been completed.
Everyone is going to send you emails and private messages with the most outrageous "cures" for your cancer. Use your "delete" button generously. Everyone means well and only want whats best for you, but they forget your doctors spent years in medical school, and more years treating other women just like you. He or she knows the latest TRUE research. Listen to your doctors, but if you don't feel comfortable get a second or 3rd opinion.
Nipples aren't necessary for life, and if you don't have them there is no "show through" so no need to wear a bra. Oh, and you can buy nipples online. For real. You can order any color you want.
When something doesn't sit right with you, trust your gut and ask questions. Remember that you are your own best advocate. If you don't feel comfortable speaking up, have your partner help you.
Speaking of your partner, he's hurting too, in totally different ways. He's scared to death about losing you. Suddenly the weight of the entire household is on his shoulders. Remember to encourage him to take a break when he needs it. Spending a few hours with his friends or brothers can make a world of difference for him.
Sleep. Sleep and don't feel guilty for sleeping. Your body needs to regenerate healthy cells and the rest of you needs to rest while that happens.
Everything tastes bad when you're on chemo. Moutain Dew will taste like salt water, but banana cream pie blizzards taste heavenly. Oh, and Jimmy Johns delivers to the chemo clinic.
In the coming weeks you're going to be very run down. Try to organize your house in such a way that if someone comes in to help, its easy for them to see what needs to be done. Let go of your need to control all things, even if that means turning on the white noise machine in the bedroom so you can't hear whats happening in the rest of the house. Resist the urge to take over. RESIST!
Don't try to potty train a child during chemo. Really, its a terrible idea.
You may look at your body and hate every scar, or you may embrace them as badges of honor. Whatever floats your boat, but do not EVER be ashamed of those scars.
Let the kids do washable marker art on your head. It feels awesome and they have a blast.
Steroids really do make you crabby. When you notice you're snapping at people, its better to just excuse yourself for a nap.
Chemo brain is a real thing. Unfortunately sometimes it sticks with you long after the chemo is complete.
You have a long road ahead of you. Right now you're trying to see into the future and its just plain impossible. Try your best to live for today. Notice the smiles on the kids' faces. Notice when they seem worried or anxious. Take the time to give them an extra hug. Let them sit on the bed with you and watch movies while you nap. Let them take care of you in their own ways. Its really important to them.
You don't need to make excuses to anyone. When you feel tired, its ok to say, "You know, I know you wanted to have coffee today, but I'm just too tired to even listen to talking, much less get out of bed."
Its ok to complain, and its ok to cry. But, if you're feeling overwhelmed by it all, its also ok to talk to your doctor about a little pharmaceutical help.
Just say "No" to Effexor. Its terrible to get off of!
If you're sitting in the warm summer sunshine shivering, take your temperature. You're probably running a fever. Likewise, if you feel you can't make it up a flight of stairs without sitting to rest, its time for some IV fluids!
Take care of yourself however you feel is right for YOU.
....................................................
A lot of you reading are cancer survivors yourself. What would you tell yourself on that day you were diagnosed?
Minnesota moms, did you feel my pain this morning? Did you wake before the kids, look out your window to find the carpet white and PANIC like I did?
Tonight! The snow was supposed to start TONIGHT! I scrambled to find the boots. "Where is the big box of boots? I know I took it out of storage weeks ago!"
While Dean was looking for that box, I was looking for the snow pants. Oh my word, the snow pants! I found bright pink pair of 4t's to shove Audrey's size 6 legs into. I found a pair of black 4t's for Amos (thankfully they're perfect for him!) Asher, who is a size 7, got shoved into Audrey's 5t's from last year. They were black, so they work. Well, except for the very feminine snowflake design that runs up the leg.
When Dean found the box of boots I discovered there has been a lot of growth in the house this year. Everyone was put into boots a size or two too small, except for Abel who couldn't even get his foot into them. Hmm Maybe because his feet grew four shoe sizes this year.
After my pre-op exam I made a quick run to the winter clothing section at the local retail place then dropped off appropriately sized snowpants and boots at the kids' school. Guess what! There were a lot of other moms there, doing exactly what I was doing!
When the morning was finally over I was reminded of this scene in "A Christmas Story".
Angela was admitted to the hospital two weeks ago today, and today she's coming home! Axel and Asher in particular are excited to have her back, and just in time for Thanksgiving! We certainly have a lot to be thankful for this year.
I wish I could say coming home is going to be easy. It will be anything but! Angela has had an insult to her brain due to the high ammonia and glutamine levels. In addition, all her meds were stopped about two weeks ago. The nurses have been struggling with managing her. At this point we really don't know what is "Angela", what is "Brain injury" and what is "I've been in the hospital for two weeks and everyone gives me whatever I want all the time to avoid having a confrontation with me." She is also tired and taking a couple naps per day. I wonder how long that will last?
As for formula, she is now on a combination of two formulas. One gives her amino acids, and the other is free of non-essential amino acids, and has additional nutrients to compensate for the medication she'll be on, along with protein. Everything requires very careful measuring and mixing. Before she got sick we were (per doctor recommendation) allowing her to eat one thing per day by mouth. Usually a pudding cup, apple sauce or other foods she is less likely to aspirate. We will still be able to do that, but need to be very careful that whatever she has includes no protein or we have to compensate with the protein included in her formula.
We're anxious for the long weekend and having Angela home. We have to move bedrooms around again so Angela is closer to us. This whole event started for us on October 6th and we're ready to re-establish our routine!
The when the urea cycle- which is the process of breaking down protein in the body and removing the waste products into the kidneys - isn't working right, the chemicals glutamate and ammonia build in the brain, which can cause Hepatic Encephalopathy, or HE.
Since Angela's gtube was started on her formula on October 8th, her brain has been swimming in a toxic bath. She displays nearly all of the symptoms of HE. I've marked them in red.
mild confusion short attention span forgetfulness mood swings personality changes inappropriate behavior
difficultly doing basic math change in sleep patterns decrease in fine motor skills "musty" or "sweet" smelling breath slurred speech
marked confusion severe anxiety or fearfulness
disorientation regarding time and place extreme sleepiness slowed or sluggish movement shaking of hands and arms speech that is difficult to understand
We don't know if we will get our girl back or how long that will take. The doctors say it can be weeks or months. She has a nearly non-existent frustration tolerance, which makes her aggressive and prone to lashing out in the form of throwing things or hitting. She cries because she is confused by what is happening and she doesn't like how she feels. As her body recovers she has very little energy. She can have one "big" activity in the morning (going to the teen room, doing an art project with a volunteer, 20 minutes of music therapy) before she starts to shut down. The dark mood takes over and she really can't function well. It takes a lot of convincing that she needs a "rest time". Finally the nurses or I will shut everything down, turning off lights and removing attention from volunteers and favorite nurses. After pouting for a few minutes she will curl herself up and sleep.
Monday was spent doing lots of labs and watching Angela's ammonia levels fluctuate, but she was waking up a little more every hour. Unfortunately waking up didn't mean being her happy self. Unfortunately the glutamine (neuron protector in the brain) was too high, causing her to have a migraine. Like a person with a brain injury, Angela was extremely irritable, irrational, didn't/wouldn't/couldn't talk to anyone. Didn't want to be touched. Didn't want the tv on. Didn't want her glasses on. Didn't want to get out of her bed. Didn't want to touch anything. Didn't want anything.
We have seen this mood before. Years before. It is when she would have sudden, unprovoked aggression. Our neurologist said she was either having simple partial seizures or migraines, and the treatment was the same: Topiramate (a seizure drug that also treats migraines) When she was treated with the drug the aggression improved about 90%, having breakthrough episodes about every 4 weeks. (ahem!) When this mood returned this week, Angela's ammonia level was hovering around 80. This would cause her glutamine level in her brain to rise, causing the migraine and this very dark mood. Now we know when we see this mood, Angela's ammonia levels are on the rise and we need to get her into the hospital to have them checked. For now, it can take several weeks for her glutamine levels to come down and her mood to improve.
Let me go back a bit and explain the Urea cycle, at least in my limited understanding. Maybe this graphic will help? Or confuse you more?
Here is a brochure for patients and families to better understand Urea cycle disorders. Somehow I need a different type of graph because I still don't really get it. Stuff goes into the liver, stuff comes out of the liver. Somewhere in there the body creates the waste product ammonia, and breaks it down with agrinine. Originally it was thought that Angela had OTC Deficiency, which is a deficiency of Orinithine (its in green in the graphic above.) For her to be deficient in that, she would have to be deficient in Arginine.
Back on Saturday Angela's blood was sent down to Mayo for genetic testing. On Weds her tests came back to show that her arginine levels were actually high. If she had OTC her arginine level would have been low. This means she is more likely to have HHH syndrome (hyperorinthinemia - Hyperammonemia - Hypocitrullinurea) which is caused by a mutation in the gene SLC25A15, or a condition called LPI (Lisinuric Protein Intolerance) New bloodwork was taken on Weds and has been sent for molecular testing. This will take 2-3 months to come back. In the meantime, we need to get Angela healthy again.
On Weds we started the slow process of finding Angela's protein threshold - the limit of protein she can have before getting into another crisis situation. The fact we found her in a coma - twice - scares me to death. That is the last step in the urea process before a person dies. We don't ever want her getting to that point in the process again.
Angela is now off TPN and on a continuous formula drip. This is a very specialized formula, created just for her, that she will be on the rest of her life, along with daily medications. It is a very fine dance between amino acids and protein to keep her urea cycle functioning properly.
Understanding the whole Urea process has been overwhelming to me. I need to make a model of it in order to understand all the steps. We're talking steps that take place at the molecular level. Mostly I'm just glad we didn't lose Angela last week. I'm thankful for doctors who didn't give up looking for a cause for the comas. Those same doctors have come to visit Angela every day, even when they don't have a medical reason to. This is the first time this hospital has treated this type of disorder because it is extremely rare. (which is why only 6 doses of the rescue drug were available in the entire 5 state region!) Angela is a bit of an enigma there. This doesn't surprise you, right?
Now that I have borrowed a computer from the hospital's family resource center (thank you Geek Squad!) that I can keep in the room during our stay, I can also update the blog. Typing on the phone is so not fun. Its probably not fun for you to read through the typos either!
So...back to last week...
On Saturday we were finally given the possible diagnosis of OTC Deficiency. This is an x-linked Urea process disorder. Of course it is very rare, but of Urea Processing disorders it is the momst common. Angela's body is missing the enzyme needed to process ammonia in the body. Isn't it crazy that our bodies produce ammonia? I knew that, but..yeah...didn't really need to know that.
It was urgent that Angela receive a rescue drug called Ammunol, which is in class of drugs called "scavenger" drugs. It does just as it sounds, runs around the blood stream eating up the protein based molecules and converting them to products that can be excreted through the urine. The problem is there were only 6 doses of the drug in the 5 state region, and of course not where we are, St. Paul Children's Hospital. The drug was flown up from Mayo.
Because this hospital has never administered this drug before, all the staff was in a tizzy. A bit excited, really. Oh boy! We get a new drug for the first time! I wasn't really feeling it, since this drug has some potentially very harmful side effects, is caustic, and CANNOT mix with anything else!
Angela got a PICC line put in, then was moved to the PICU. The drug arrived around 1:00 am. All the nurses in the PICU, along with the doctors, went over the protocol given by Mayo on how to administer the drug, the signs and side effects to watch for, etc. Everyone was hyper-focused and I just stayed out of the way. Finally the Ammunol was started at 2:00 am, and would run for 24 hours. She had 5 other drips running at the same time: lipids, D10, electrolytes, arginine and I forget what else!
Over the course of the next 24 hours her blood glucose levels taken every 30-60 minutes. If she moved over 150 she was started on an insulin drip until she came back down. In addition, her ammonia levels were checked hourly to make sure it was trending down. For the first 12 hours Angela mostly just slept. Then she started complaining of her PICC line and arm hurting her. A couple hours of that and it was full-out crying that her arm hurt. Poor baby. I couldn't do anything to make the hurting stop at all. She was just miserable. It was the longest 24 hours.
Finally at 2:00 a.m. Monday morning the dose was complete. She complained about her arm a bit more. But the worst was that her Ammonia levels jumped right back to where they had started. The doctors thought she was needing to go back on the Ammunol for another 24 hours! Then the metabolic geneticist got back to them and said no. What has happened is she has gone into a catabolic state. Meaning her body was creating its own protien by attacking her own muscle, then converting it to ammonia again. So she was started on TPN (nutrition that goes right into the veins) so her body didn't feel starved and could stop attacking itself.
Finally on Tuesday, when her ammonia levels were consistently sitting at 80, we moved her back up to a regular room. While she was out of imminent danger at that point, there was still a lot to do.
10/09/15 med supply company delivers our preferred formula (Liquid Hope - amazing stuff!). Nurses prepare discharge papers. Angela is very quiet. We go home.
10/12 she goes back to school but is still not herself. Quiet and tired. She doesn't make it a full day.
10/12-10/31 Angela gets more tired every day. Her blood pressure plummets multiple times. Ambulances are called to school. In general she is not right but nothing we can put our finger on.
10/31 she is very tired and has tremors but really wants to go trick or treating with the little kids. We only do a few houses because I can see she is fading. She is not answering questions and I would call her mental state a "stupor". We go home, get her last feed for the night as she sleeps on the couch. She is very difficult to wake up to move to her bed.
3 am I wake up and check on her. I find her on the basement floor unconscious and unresponsive. Ambulance is called. On the way she becomes combative, but still unresponsive. She is admitted to ICU in a coma. I am asked about 20 times if she could have gotten into anything or if someone could have put something in her gtube. Over the next 48 hours she gradually wakes up and is more awake than she has been in a month. She is chatty and chipper, although she has these odd tremors.
11/03 she comes home mostly herself again. She starts back to school but cannot make it a full day. She is moving from lethargic to sleepy.
Through all this there were countless conversations with doctors. But she is just sleepy. Not much to do. I decide there is a connection with the formula. Too many calories? Not enough calories? Too much water? Not enough water? She sleeps most of every day.
11/05 we normally give her 4 feeds per day. Our schedule was thrown off and she only gets 3. In the morning she is easier to wake up but very irritable. She is awake all day for the first time in several days. In the evening she goes to a disabilities dance for a couple of hours but does not make it the whole time.
11/06 I email her doctor. As long as we can wake her and her blood pressure is ok we can keep her home. I wake her every hour and give her feeds while she sleeps. Get her to the bathroom every 4 hours.
11/07 repeat of the day before.
11/08 call the doctor first thing in the morning. We agree if she is still sleeping on tues to bring her into clinic. I wake her several times during the night to make sure shes ok.
11/09 wake her up for dr appt. She has been sleeping for 14 straight hours without really moving. I am able to get her out of bed and to the bathroom but with a lot of support. She is not talking or answering questions. I get her to sit down at the table. Her eyes are only 1/2 open when she slumps her head to the table. Dean calls 911. She is able to walk to ambulance with 2 person support but her eyes are closed. After about 2 minutes in the ambulance she is unresponsive.
In the ER they do all the same bloodwork and tests. This is named coma #2. There is nothing they can find. They again ask Dean and I who has access to her gtube besides us. Since she hasnt been in school there is nobody. We make it clear we will not bring her home again until we know whats going on
11/10 observation and tests. She is getting perky.
11/12 she is the life of the party. More questions, along with a list of drugs that would not show up on a toxicology of blood or urine. Do we have any of those in the house? Do Dean or I have prescriptions for any of them? We are asked again and again.
11/13 we start the feeds back up. I insist she is fed the same formula she gets at home so her reaction can be observed. I refuse to do the feeds myself or to do anything with her cares. I won't even go near the beds during feeds. This needs to be all them.
Evening of 11/13 I bring Axel up to the hospital. Angela's hands and arms are trembling. She has feed #2 while we are there.
11/14 she has her morning feed. Dean goes to visit at the hospital. She seems "fine" but I call and insist she get out of bed and walk around. Oh, surprise she can barely stand without support because her legs are too shaky. Dr is seeing the pattern with feeds. 11:00 am she calls me. I told her with the next feed Angela will start to get drowsy. They stop her feeds, contact metabolic specialist who orders an ammonia level. Normal is under 15-45 Angela is at 221. Suddenly there is urgency.
Genetic testing is ordered to test for the x-linked enzyme OTC Deficiency. It is a rare and deadly disorder. She cannot process protein. This amazing formula has given her more protein than she's had in her entire life.
A special rescue drug - Ammunol - is ordered. There are only 6 doses in the entire 5 state region. Coat is $100,000 per dose. One is flown up from Mayo clinic. 11:00pm Angela has a picc line out in. The nurses are all in a tizzy because this hospital has never administered this drug! 12:00 am she is moved to the PICU. This drug requires her blood sugar be tested every 30-60 minutes. Insulin is kept on hand. She needs lipids, dextrose, fluids..everything all at once.
The drug arrives. It should be encased on gold the way everyone is acting
The nurses and doctors meet outside Angela's room. They go over all the side effects to watch for, when to declare emergency response, blood glucose every 30 minutes, ammonia level every hour, insulin as needed for high sugar levels, watch for burning of tissue because drug is caustic, patient will complain of burning throughout duration because it burns inside. It is a 24 hour continuous drip. 48 finger sticks, 24 ammonia draws, 1.5 liters of fluids per hour. Watch for coma. The drug was started at 2:00am Sunday morning.
Some of you have known Angela for years in the DS community. Others are more recent additions to our circle, either via the adoption community or connections through friends. For you lad timers, you remember the days when Angela kept everyone guessing, either due to erratic behavior or unusual medical symptoms. Yesterday we received a diagnosis that now makes sense of all the oddities of previous years.
Partial Ornithine transcarbamylase deficiency
I'm going to post a link to information for you to read at your leisure. Wrap your brain around it a bit. Pick your jaw up off the floor, then come pack and I'll explain how this all came about. I'm sure you'll notice as you read that many features associated with Down syndrome masked the symptoms of POTCD.
