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!"

Friday, November 20, 2015

Back in a room

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?


Jackie said...

HI Leah, {{Hugs from NH}} I am SO GLAD they got it figured out (at this point) always thinking of you even though I don't post or comment very often, but I keep an eye on Eagan MN! ;)

eliz said...

Oh Angela,Leah my heart just aches for all you are going through. We continue to pray (((HUGS)))