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Propionic Acidemia (PA)

Oh, where to begin… I can’t even remember the last time I wrote about Cady. Although, I’ve got a lot to write about! In July of 2008, we went on vacation to Ocean Isle, NC. While there, Cady became constipated. We did what we could to clean her out, but this was no ordinary bout. Cady generally doesn’t have problems with her ammonia levels until the end of a spiral, when all else is lost and there’s no turning her around without major medical intervention, but this caused her ammonia to spike. She continued to be constipated throughout the summer and fall, with alternating bouts of high ammonia levels, constipation and then higher and higher doses of laxatives. It was a vicious cycle and I did everything I could to get it under control. It came out of the blue, without change to her diet or activities. I saw her pediatrician, then on to the geneticist, then a consult to the University’s GI clinic. All anyone would tell me is “give her more laxatives.” I could never get anyone to understand this wasn’t like Cady, there had to be areason for the constipation, that we need to get to the bottom of it instead of giving her more and more laxatives. Right after Christmas, I had a major abdominal surgery. Of course, that is exactly the time that all else breaks loose too. Cady got the mother of all constipations, and again the advice was “give her more laxatives.” I stressed that I was giving a 60 pound child enough laxatives to keep the nursing home flowing freely into the next year, but no one had any answers. Cady “blew out” and dumped all of her electrolytes in the process. It was more than her embattled system could stand, and she spiraled on us big time. We called an ambulance, she was barely conscious and slipping further and further away. There was no way to get a gurney into our house to fetch her, so without any thought to myself at all, when I saw the lights pull into our driveway, I threw all 60 pounds of Cady over my shoulder, ran down the front steps with her, and climbed into the ambulance. It didn’t occur to me until later that I still was on an 8 pound lifting restriction.

In the ambulance, Cady’s blood sugar was tested out over 500. She normally doesn’t have a blood sugar problem, and some IV fluids were begun. By the time we got to the ER, just a few minutes away, her blood sugar had come down to the 300’s. She became a little more awake, although she was confused and tried repeatedly to pull her oxygen mask off. A decision was made by the local ER to fly her to Morgantown. In all the times she’d been sick, she’d missed the bird. Now it finally got her. In 20 minutes she’d be in Morgantown, and I was off to pack a bag so I could stay with her. It was a 2 hour deer-dodging drive for me in the middle of the freezing night. By the time I got to Morgantown, she was in full coma, and it would be a week before I’d hear her voice again.

While the PICU in Morgantown was a Godsend, (they had built new suites with captain’s beds for the parents to stay with their child), much of that week is a blur to me. I am not one to shrug things because they are painful, but I cannot go back to those memories without tears. Cady lay so helpless in that big bed, its side rails padded because her sodium was so low that she was apt to have seizures at any moment. Her foley bag filled up again and again, despite only having a little IV fluids running. She would not wake, although she would moan to very painful stimuli. Once again, specialist after specialist was called in to evaluate this perplexing child. Her acidemia had all but resolved, and yet she remained in coma. There had been some discussion that maybe there was cerebral swelling causing her to dump all of her fluid, so she was CAT scanned. By the next day, the consensus was that while her brain was swelled, the problem was actually SIADH. SIADH is syndrome of inappropriate antidiuretic hormone. It is a condition of self defense gone awry, and deadly. For whatever reason, the adrenal glands begin to flush all of the sodium and water from the body. When these shifts occur, the brain swells, leading to seizures, coma and death. It was like Cady was saying “You think PA is confusing?? Try this!” And she wasn’t done…

The treatment for SIADH is careful electrolyte replacement while restricting fluids to a bare minimum. This is very hard on veins, so a central line was introduced. While giving her pain medication so the central line could be placed, Cady stopped breathing. Her sedation had to be reversed and she began breathing again. The femoral line was placed and now we had a safer administration route for the concentrated electrolyte solutions. It became days of what I call ‘chasing the monkey’. She’d get a dose of calcium and blood would be drawn. Then her magnesium would be low, and would be chased with a magnesium bolus. More blood work, more out of whack labs, more chasing. And still she slept. And all I could do was pray and pace and pray some more. So that’s what I did.

As Cady’s acidemia resolved, we began introducing calories to her. TPN was begun to help try to replace some of those crazy electrolytes as well. She was still having labs drawn, but now instead of her electrolytes being the focus, we began to watch her platelets. She’d had a blood transfusion already, the PA tends to suppress bone marrow activity, so Cady wasn’t making her own red blood cells at the height of her illness… but now all of her cells were slowly recovering except for her platelets. Every day and a half or two days, she’d reach a critical level with her platelets, and need a platelet transfusion. We’d gone through this cycle three times, and couldn’t figure out why her other cells were recovering, but her platelets were being chewed up so quickly. More blood work was ordered, and a hematologist consulted.

Everyone that came to see Cady that week (and she had a parade of visitors) prayed with us for her. All along, without each of us speaking of this to each other, the recurring theme was “she will be restored.” I believed it, and held fast that God would continue to be with Cady.

DJ stayed with us that week too, sleeping nights with Jay in a motel room until we got a room at the Ronald McDonald House nearby. I wanted him to spend as much time with his sister as possible. If he lost her, I wanted him to know why… and if he didn’t, I wanted him to appreciate why. After a week, I was exhausted, Jay was exhausted, and we were at our wits ends. All along we had an enormous outpouring of support from friends and family, all of which offered to take DJ if we’d just say the word… So, Sunday, after a week and with no end in sight, I called DJ’s Autism Mentor from school and asked her to take him. Cady was due for another CT scan, an MRI for which she’d have to be sedated and intubated, and a bone marrow biopsy. I didn’t think I could deal with anything else that day. DJ was going to get hungry, he was going to get bored, and underlying all of this was his Autism. He’d been an absolute angel all week, but it was time for him to go and allow us to concentrate on his sister. And since consistency is very important to Autistics, I wanted him to go with the one person who could be with him 24/7 until we got back home.

Cady had her CT scan, which showed swelling gone. They didn’t have to sedate her for the MRI, but did afterward for the bone marrow biopsy. She was given a dose of anesthesia, and we ran six floors to the ICU while bagging her through an ET tube. As we approached the ICU with her, I could see the latest bag of platelets hanging on her IV pole, ready for infusion. Just as the bone marrow biopsy was being completed, a halt was given on the platelet transfusion. It turns out some of the labs ordered with the hematology consult had begun to come back… and there was an answer to the platelet problem, after all. Cady had developed HIT, heparin induced thrombocytopenia. There had been heparin in every prepared solution Cady had been given and she’d developed an allergy to it. This allergy caused her to destroy her platelets, but platelet reinfusion is the last thing you want in HIT. It will cause the platelets to aggregate together and throw blood clots throughout the body, which result in heart attack, stroke and organ shut down. Her platelets were low enough to cause spontaneous bleeding (which she did enough of when they pulled the ET tube from her throat that it looked like Freddy Kruger had been visiting) but we could not replace them. We just had to stand by with her on the precipice and pray she’d not bleed to death before she made her own platelets again.

After cleaning her up (like I said, she was a bloody mess after the ET tube was pulled) and washing her hair, we sat her up and braided a prayer cloth into her hair that my parents had brought from their home church. We weren’t getting any reassuring answers from the medical tests that had been performed… the MRI only showed abnormality, which we already knew. If your brain swells, it looks different as the swelling is going down, and there’s no real way to tell if the damage is permanent or will recede the way tingles leave a slept-on arm after a bit. All of the results were the same; “abnormal but we can’t tell for how long.”

Later that evening, we were waiting on the neurologist to come see Cady about an EEG that had been run the night before. She was late coming to Cady’s room after her clinical day, and hadn’t read the EEG yet. She said she’d read it and get right back to us. Jay and I waited an hour or two, but were famished and hadn’t left Cady’s side all day. I had decided I’d had enough ambiguity to last me an entire day, one more report was not going to say anything life changing. I told Jay that the only thing that would make me feel better was to give Cady a hug. I’d resisted it all week, she had so many wires and tubes around her, it made getting near her nearly impossible… but I could stand it no longer. Jay got behind me so he could hug us both and I lifted her in my arms. As I lifted her body up to get my arm around her back, her head fell back and she opened her eyes. In that moment there was clarity, and she uttered “Daddy”… we cried like babies, and she fell back asleep. At that moment I knew all of our prayers would be answered, and we were on our way out of the valley.

Jay and I ate a small dinner, went to the local Wal-Mart and bought Cady a Valentines bear that held a heart that read “Princess”. When we returned to her room, it’d been two hours and she was exactly as we’d left her. I told Jay to get on one side of the bed and help me roll her so she wouldn’t get a bed sore. At the sound of my voice, Cady sat up and began asking two hours worth of coherent questions. She asked them so quickly; we didn’t have a chance to answer them. She’d been mute for a week and was gonna make up for it! The nurses couldn’t believe it, it was the kind of thing that can only be called a miracle. Jay and I were so happy we could barely contain ourselves. It was the first good night’s sleep Jay’s had in a week, and I’d say it was mine too, but she kept me up all night babbling.. Still, I can sleep later, right? What beats having your child back? Nothing.

The next morning, the doctors and medical students who’d been following her rounded. They were just as amazed to see her sitting up, watching TV and coloring. The doctor that had admitted her smiled and said “Gee Cady, I wish we knew where your on switch was.” We stayed in the ICU the remainder of the day, briefly unhooking and walking the unit, and then were transferred to the regular Peds floor the next day. The first order of business was to get Cady showered. The gals in the Unit did a great job of keeping her clean, but you all know what PA smells like after a while.. Whew! While in the shower, Cady began to lose her hair in great clumps. The ordeal was finally taking its toll on her outwardly.

Cady spent the next day and a half on the Peds floor, just being watched, simply because no one knew what else to do… who wakes up from a coma like it was a nap? On Friday, 12 days after this whole ordeal began; we were on our way home.

The following couple of weeks were hard on Cady and those caring for her, though. While she “snapped” right out of her coma, she regressed some after coming home. She was cross and wanted to sleep all the time. She couldn’t walk very well and was no longer continent. We reverted back to g-tube feeds because she just didn’t have the stamina to eat. Again, we did what we know… we called a prayer meeting and prayed for Cady again. You can never get too much of that, you know.

Cady stayed home from school another week while I worked with her, and I sent her back to school. I knew Cady was still in there, I knew if I pushed her, she could answer the questions I asked, but it had been a hard go-round for her, and she just didn’t want to. Well, ultimately it didn’t matter what she wanted, it mattered what was best for her. I sent her to school with her feeding pump, and called her teacher. I warned him that it was going to be tough with Cady. She’d regressed to the point that she didn’t want to do anything. I told him to ignore the tears as best he could, that she was in there and I was determined to have her back the way she was before “the fall”. He called me from school every day. There were big crocodile tears, he wasn’t sure pushing was the right thing. He wasn’t sure she was up to it… but he hadn’t seen what I’d seen, and I told him to stick with it. Fortunately, there were two wonderful aides in the class and they helped shoulder the burden enormously. This was a team of adults that loved this little girl and was willing to drag her back kicking and screaming (which she did) and I thank God every day for that. The torment was relatively short lived. Within a couple of weeks, Cady came around to her old self. And it wasn’t necessarily gradual either. There was a little progress each day, but then one day she decided we weren’t going to give up on her and fighting all four of us was too much work. The tears stopped, and the smiles began. She excelled in her work, she was happy and back among us.

And that where we are today, a year later. Cady is a vibrant, 3-meal-a-day-eating, schoolwork-doing, Hannah Montana-loving 13 year old. She did suffer some permanent hearing loss due to the acidosis or electrolyte swings, and now wears hearing aids full time. Most of the time you don’t even notice them. However, not only has she not been sick since that episode last winter, but her health is actually the best it’s been in her whole life. Her labs are great; she’s jumping grade levels in her work at school. She played Upward Soccer last spring, enjoyed Spring Break and summer at the beach and walked all over Manhattan in July. This year was one big roller coaster ride that left us emotionally spent, exhausted, exhilarated and enormously thankful. Oh, so thankful.

Jay and Leslie
New Martinsville, WV
Parents of Cady, 13, PA
And DJ, 10, Autism.

From the Spring 2010 OAA Newsletter

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