Blogging about life in Minnesota, raising our six kids with Down syndrome while battling Breast Cancer.

Be the kind of woman that when your feet hit the floor in the morning the devil says, "Oh shit! She's up!"

Monday, January 18, 2016

The Learning Curve

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."


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.


AllBreed Obedience said...

Oh sweetie - my heart just hurts for you all. No need to say how strong you are, how brave, etc. You just are. But darn it, it would be good for you to not have to be strong and just be a woman for a while. Good news is you have an amazing support system, both with family but most importantly friends. Friends who are there for you, friends that will ALWAYS be there for you. Deep breathe girl - it's good for you!

Heather said...

Thank you for sharing yours and Angela's story with this very complicated illness! Praying for your family - this sounds like such a challenging time for all of you. Feel better soon, Angela!

eliz said...

Oh Leah, what do I say. I'm glad to hear an update. I can not even imagine. And precious Angela, ((((HUG)))))) Life can be so incredibly hard sometimes. We just found out that our SP (group home gal) may have lung cancer. We are praying for you all.