(I have quite a few posts for January-March started but not finished yet so be sure to stop back and catch up once I get them posted)
Here's what's been happening {it reads like a true mystery novel!}...
Audra has been having behavioral changes for the past few months. But the past 6 weeks have been particularly challenging both at home and at school. Really this all goes back as far as early September. Audra had a UTI and was very sick while we were on vacation in late August. Once we got home and school started we noticed that she just wasn't the same. She had a flat affect, wasn't very interactive, hardly spoke the few words she usually does, and generally just seemed very zoned out. She was sleeping more than usual and seemed to have more frequent low grade temps. She was being sent home from school frequently for the low grade temps so I had her to the doctor a few times. At first we did the usual...blood work and urine tests. Her inflammatory markers were elevated which usually indicates an infection somewhere for Audra. They were thinking maybe the recent UTI she had was undertreated but multiple urine cultures came back negative. Over the multiple doctor visits in September and October we noticed that she was slowly losing weight. So with the abnormal bloodwork and weight loss her GI doctor decided to do upper and lower scopes in early November. Unfortunately they did not reveal a cause for her symptoms and she continued to lose weight so we had to add 2 daytime bolus G-tube feedings in addition to her usual overnight continuous feed. Slowly we saw her weight improve a bit, but not up to where she had been before all these mysterious symptoms started.
Then in December/January we noticed behavioral changes in Audra. She was easily agitated and even aggressive. She would scream, hit, kick, bite and have "tantrums"...all things we had not seen her do before. School started using the word "regression" to describe her. She was not doing things in school that she had been able to do at the end of the previous school year. And we noticed that she had a curious new interest in putting things in her mouth.
In mid February all of these behaviors escalated. She was disruptive in school to the point that I was being called to pick her up early multiple times. She was throwing her body, arching back and hitting her head to the point that we were worried she would hurt herself. Her body was constantly in motion to the point that she seemed uncomfortable in her skin. Things that never bothered her before seemed to bother her now. She was constantly pulled her glasses and hearing aids off, pulling on her G-tube and taking her cloths off. She was putting EVERYTHING in her mouth...even leaves, sticks, mulch, her g-tube dressing, paper, rubber bands...you name it. She was constantly shoving her fingers into her mouth and chewing on them.
We took her to urgent care to rule out the "easy" things like an ear infection or strep throat. And she checked out just fine. Then I had her back to her pediatrician who ordered more bloodwork and urine tests....which did not help in solving the mystery. So then I started touching base with each of her specialists individually...which is not the most efficient process. She continued to have new behavioral changes/regression including feeding herself with her hands instead of using utensils and daytime incontinence. So on Friday, March 17th she had an MRI of her brain and lumbar spine.
I was in communication with her neurologist the following week and her brain MRI didn't show anything acute that could be causing these symptoms...just the usual abnormalities that we already knew about. So she consulted with some of her colleagues and we made the decision to stop her ADHD med and start a new type of medication. Unfortunately, by later in the week her behavior had escalated to the point of risking her own safety. I was called to pick her up from school on both Thursday and Friday. So that Friday (3/24) I decided that she needed to be taken to the ER for an evaluation.
My sister drove Audra and I to the hospital and Audra was quite unsafe on the hour ride down. Even though we had her strapped into my niece's 5 point harness car seat she managed to get her arms out multiple times and even reached the door button once and got it ajar.
While we were walking into the triage area Audra was screaming, arching and flailing her body all over the place. The staff later told us that at first they thought she was just another child who was not happy about coming to the hospital...then they saw her smiling and laughing and noticed the way my sister and I alternated between holding her and catching her from the other's arms and they knew something wasn't right. That bought us a ticket back to an exam room within seconds.
After a long few hours in the ER it was confirmed that Audra would be admitted for a behavioral/psych evaluation. Which was a relief...because we needed help. Our sweet little Audra was not, and had not been herself for quite too long. In the beginning we had to make sure it wasn't a complication of one of her many medical problems that was causing the severe behavioral issues. She is so complex medically and her lack of language skills makes it impossible for her to let us know what she's feeling. But when test after test didn't reveal an answer we were left with only the behavioral/psych department as a possible cause.
Luckily CHOP has a brand new unit for kids with this exact issue. Their Medical/Behavioral Unit is for kids with underlying psychological or behavioral diagnoses who also have medical issues. But unfortunately the unit was full. So, Audra was admitted to a unit she has been on multiple times before...home of the Immunology service. Which was a good fit since she was due for her weekly immunoglobulin infusion the following day and they would know exactly how to do it :) Audra was assigned a 1:1 tech to sit in the room with her 24 hours a day to observe her behavior and help keep her safe.
Tucked in for her first night in the hospital
By mid-morning we got word that the Medical/Behavioral Unit had a bed available for Audra and the doctors covering that unit came to see Audra. Both a General Pediatrician and a Pediatric Psychiatrist partner in the care of patients on this unit. Audra was finally able to get her immunoglobulin infusion started later Saturday evening and then we moved to the new unit. The plan was to run some pedialyte through her G-tube overnight and then get started on the behavioral stuff in the morning. But Audra had other plans...
She vomited shortly after the pedialyte was started so they decided to rest her belly overnight. Sunday morning came and she vomited after every sip she took. That bought her an IV and then she had an abdominal ultrasound and an x-ray. Neither of them revealed anything concerning so they continued to challenge her tummy with pedialyte. And each and every time it failed. By this time sweet Audra was starting to feel really terrible. She was nauseous and lethargic nearly all day long, except for short periods after vomiting when her belly was completely empty. Then the cycle started all over again.
Monday brought a new team of doctors and a fresh set of eyes. It also brought the abundance of resources available in this amazing unit....psychologists, social workers, behavioral analysts, developmental pediatricians...It was a revolving door of people coming into our room! However by this time it was clear that Audra's GI issues were a priority and the whole reason we were admitted in the first place (her behavioral issues) took a back burner. Audra continued to vomit persistently and another symptom became persistent also...the right corner of her mouth twitched nearly constantly. This led to an EEG for Audra and a neurology consult. Poor Audra's vomiting was only eased by continuously draining her G-tube to a bag and giving anti-nausea medicine around the clock.
In somewhat completely unrelated but very eagerly anticipated news...
We received word that Audra's long awaited genetic testing results were completed. And the Genetic team would be coming to see us the following day to discuss the results. Nearly 3 years ago our insurance company had denied this very extensive {and expensive} genetic testing for Audra (whole exome sequencing). But at that time CHOP was conducting a research study that involved the same exact genetic testing so Audra was enrolled in the study instead. When 2.5 years had gone by without any results from the study I asked Audra's Genetic team to resubmit a request to our insurance company for this genetic testing. By that time we had a new insurance company and Audra had added to her laundry list of medical diagnoses. This time the insurance company approved the testing and Audra had her blood drawn 12-28-16 with results expected in approximately 8 weeks. And well, here we are 12 weeks later, in the hospital for an entirely new issue and the results were IN !!!
To say I slept restlessly Monday night is an understatement. The anticipation of what was happening currently with Audra's GI illness AND the anticipation of genetic testing results was a lot and weighed heavily on my mind and heart.
8 very long hours later Tuesday morning came. First it brought another ultrasound for Audra, which again did not reveal a reason for her persistent vomiting. This led to "the talk". Audra's doctors mentioned to me that it was time to start thinking about giving Audra IV nutrition (TPN) since she hadn't had any food/nutrition since Thursday...which was 5 days ago. And if she needed TPN then she needed to have a central IV placed, a PICC line. And even though this sounds like a lot, my heart was a bit relieved. This meant that they were finally accepting the fact that Audra's little tummy just was NOT going to tolerate having anything in it. And although we didn't have a reason yet, they knew they needed to rest her belly for a period of time. Which meant I wouldn't have to see my sweet girl writhing in discomfort from nausea anymore and vomit every couple hours from the repeated attempts to get even tiny amounts of pedialyte into her.
Then 1:00 came and it was time for the genetic testing results that were nearly 3 years in the making. Two people from the Genetics team, 3 people from the Neurology team and one of the doctors from the unit Audra is on came in to see me. They got right to the point. They had found a mutation in one of Audra's genes that they think explains her multiple medical and developmental issues. The gene with the mutation is called the SON gene and the specific mutation is called ZTTK syndrome. It is a very newly identified genetic disorder that has only been identified in approximately 20 children in the world so far. As of now the information is still very limited but a paper published recently that describes 20 children with the syndrome noted ALL of Audra's medical and developmental issues in most/some of the 20 children:
Developmental delay
Non-verbal
Hearing loss
Structural brain abnormalities
Failure to thrive with G-tube
Pancreatic insufficiency
Immunodeficiency
Vesicoureteral reflux and kidney issues
These 20 children sound like little Audra clones !!
And while this doesn't really solve or fix anything for Audra...there's no magic pill, potion or lotion that will "cure" any or all of her medical/developmental issues... it is somewhat of a relief to know that all of her many issues do fit together. And there are other children out there who are just like Audra.
The official exome report with a diagnosis in writing
After a few tears, tissues and some reassurance from the genetics team it was time to turn our attention to some of the current issues. Neurology let me know that her EEG from the day prior was stably abnormal, not different from her previous EEGs. And the mouth twitching that was captured was not seizure activity. But she did continue to have abnormal "discharges" and now that we know she has ZTTK syndrome (in which there is a tendency to have seizures) they felt she needed an overnight video EEG.
Our final doctor visitor of the day was GI. Audra's GI doctor is on vacation this week so one of her colleagues came by to consult on Audra. Many big bad GI things that could be causing her vomiting have been ruled out: pancreatitis, malrotation, volvulus, intussusception, etc. Which leaves the more standard things like gastroenterovirus (not mommy's vote) and ileus (mommy's vote). Audra has had an ileus twice in the past and this time she is acting exactly like the other two times. It's cyclical...she gets nauseous, irritable and uncomfortable anytime her belly has anything in it, then she vomits and is more comfortable until her belly fills up a bit again. The only way to make her comfortable is to keep her belly continuously draining to a bag and give her anti-nausea medicine. And that sounds exactly like the past few days! Either way doesn't matter, treatment really is the same....bowel rest. Don't put anything in, and keep her tummy drained. Then start up very, very slowly again in a few days. So that is what I pleaded with the doctors to do...and STOP trying to challenge her poor little tummy until after she gets the PICC line and starts TPN.
We finished off our very busy day with a trip up the neurology floor to have the EEG leads placed. Not a fun process for Audra but she made it through and we got back to her room just in time for her nighttime sleep meds and *hopefully* a good night's rest since she'll be getting bowel rest too.
Sound asleep for the video EEG
And some serious bedhead in the morning!
Wednesday we woke up refreshed and ready to finally make some progress in getting her belly feeling better. Audra {and mommy} slept pretty well since she had bowel rest overnight so she wasn't nauseous or vomiting through the night. I just knew that once she had the PICC line in place and TPN infusing her doctors wouldn't feel so pressured to get some kind/any kind of nutrition into her tummy. Which meant my sweet girl would finally have some relief from the constant vomiting.
It was a long wait until we finally we got the call at 3:15 to go down. She was happy to get into a wheelchair and go for a ride. Being inside the same four walls for the past 5 days is getting to us!
Every other time Audra has had anesthesia I have suited up and gone into the OR with her. But she was feeling pretty calm and content and she willingly went to the nurse's arms from mine right outside the door. The nurse told me later that Audra was calm but wrapped her arms and legs around her with all her strength and wouldn't lay down. So they gave her meds in her IV while the nurse held her and she quickly fell asleep. The nurse fell in love with Audra's sweet self and so she came out with a shiny new PICC line AND a fluffy new blanket...one of the many that are donated to the hospital to give to kids who are experiencing way more than any kid should have to. Audra's recovery was a little rocky, she was still vomiting, her blood pressure was very high and she had a fever. The anesthesiologist was a little concerned and kept an extra eye on her for a while. She needed some oxygen at first and they said she had vomited while they were placing the breathing tube so they were worried some of the vomit could have gotten in her lungs. Over time her breathing settled out but her blood pressure remained high. And then it hit me...over the past few days the nurses were having trouble getting her blood pressure. It would be high and they wouldn't believe it, thinking instead that she was moving too much or fighting the cuff. But now she was perfectly still and asleep and her blood pressure was 160/100. I wondered if this had anything to do with her mysterious vomiting the past 5 days. By this time she was due for her nighttime dose of clonidine for sleep, which they thought would also help reduce her blood pressure. We made it back to her room about 8:00pm...got her clonidine in her, started the highly anticipated TPN and put this day in the books!
To be continued...
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