|hat hair is not currently in the DSM|
Chapter 1: A Lil Help Please
Because of the severity of Lily's disability, she qualified for a case manager through her ID (intellectual disability). That person put me in touch with an agency. That agency suggested I solicit my doctor's office for a "letter of medical necessity". That letter, forwarded to Lily's Medical Assistance insurance got her approved for a home health aide. Basically they would pay for an aide to stay with Lily 4 hours per day on school days that I worked, and 10 hours per day on non-school days that I worked (ie. the summer).
Amazing benefit, right? Except that the problem isn't even getting approved for the benefit. The problem is finding someone to actually provide the care authorized BY the benefit. Nobody had anyone to offer. Six agencies told me they would recruit for the position. Meanwhile my parents and in-laws continued to commute to my house for daily bus duty. I speculated that maybe because there were limited hours...or the pay offered through insurance wasn't enough, or the hours were weird. I wasn't sure, but wasn't getting a lot of interest.
After two or three months, I finally had a string of interviews (they call them "meet and greets"). The first one didn't show up to the meeting. No thank you. The second one didn't show up to the meeting. No thank you. The third one showed up to the meeting and seemed quiet, but was fine. A fourth meeting was scheduled but canceled before the meeting.
Four interviews. Three no-shows. The person who "showed up" was hired. It made me extremely uncomfortable. But...she was the solution.
Okay, let's put a pin in the aide situation.
Chapter 2: Hidden Results
Around the same time as I was getting Lily's ID "label", I had reached out to Lily's developmental pediatrician to ask him about Rett Syndrome and Lily. We had gone back and forth a few times about it in the past. He asked me if we'd ever done the testing. I told him I thought we had, but that the results had been negative. Over the course of time, I had looked through all of Lily's genetic testing information and eventually came up empty despite feeling CERTAIN that we'd done the testing.
I reached out to him again and asked if he had access to any other genetic test results that I didn't, because I couldn't find any record of it being done. In March or maybe a little later this year he finally got back to me via phone to tell me that he found it. And it was positive.
And of course I was like...what. the. actual. fuck. dude.
It turned out that yes, he'd ordered a genetic test for Rett for Lily back in 2013 or 2014 and that the results HAD come back around the same time. And that they had been positive for the genetic marker for Rett. So...what happened? Why did I always think that she absolutely had been tested and absolutely didn't have it?
It turns out that the genetics lab had sent a cover letter to the doc indicating the preliminary findings, with promises of a report to follow. The doctor filed the cover sheet and waited for the report...which never arrived. He forgot the cover. Forgot he was waiting for the report. And everyone moved on.
But Lily continued to show some pretty stereotypical Rett's traits...hand wringing, pressured breathing, etc. And, forgotten results notwithstanding, the doctor treated Lily as if she DID have Rett, or at least "prescribed" supplements that were supported by science for the treatment of patients with Rett Syndrome.
So we found the cover sheet. Genetics lost the report. It's gone. But Lily has Atypical Rett Syndrome. Atypical in all the best ways...she CAN walk. She does NOT need a feeding tube. Those sorts of atypical things. But with the new Rett diagnosis came a referral to meet with a geneticist. I started looking into setting up an appointment.
Chapter 3: Seize the Day
In April Lily's school reported her first seizure activity. Absence seizures. She was unresponsive for a minute or two, rocking rhythmically and drooling. Then she would snap out of it and be okay again a few minutes later. They loaded her in an ambulance and I met her at Children's Hospital ER.
A long day in an emergency room followed.
Fun fact: Children's hospital does not have large pullups for children. So, if you are meeting your child at the ER and somehow did NOT pack pullups in your car for work, they have no way to control potty situations. Might as well duct tape a fucking roll of paper towels to your daughter, sir...we at "Children's" hospital ER are not equipped to handle your special needs. Dicks.
They wouldn't let her eat. Or drink. Had tests to run. It wasn't fun. Ultimately left the ER without any sort of confirmation of the seizure itself, but other tests that came back "normal".
We also left with a recommendation for a new sleep-deprived EEG to be conducted, and a sedated MRI, along with a followup with a neurologist. Lily's developmental pediatrician seconded the recommendation. I began to look into setting up those appointments.
From April to August she would have another two or three seizures, and I finally witnessed one myself. I didn't love it.
Looking back, people have been reporting seizure-like activity all the way back potentially to her being three or four. It was always maybe once or twice a year someone would say she would just sort of stare and rock and drool and be unresponsive, but we'd never actually witnessed it, nor had a nurse (like the school did in April) witness it. So, although we DID do a sleep-deprived EEG years ago (2011 to be precise) the results then were inconclusive. The saw no seizure activity. And the followup recommendation they made was met with a polite but clear "fuck you." At least in my head.
Chapter 4: Appointments
I don't remember what was first, and I'm too irritated right now to look it up for accuracy's sake. Lily did a sleep-deprived EEG. She did a sedated MRI. She met with a neurologist and a geneticist.
The results of the EEG were...inconclusive. According to Lily's developmental pediatrician...they showed "normal background slowing consistent with someone with Lily's diagnoses". Only this and nothing more.
The results of the MRI showed a Chiari type 1 malformation that was not shown on a previous MRI Lily had when she was like 2. That generated a recommendation that she see a neurosurgeon. I scheduled that appointment. We visited.
I will wrap your head around all this awesome appointmenty goodness momentarily.
I met with the Geneticist. Did you know that 90% of people with Rett Syndrome have seizures? No? I didn't either. 90. Percent. So yeah...she seconded the idea that Lily meet with the neurologist, who I was already scheduled to meet with, but it was wayyyyy out in the future because apparently it's all the rage to have a neurological condition. I asked about followup. She said, "I'd love to continue to follow Lily, most of my Rett kiddos end up being followed by neuro though." k. She recommended a bone density scan, and some other stuff. I haven't looked into scheduling that yet. At this point the number of appointments that branch from each previous appointment requires a fucking diagram. hmmm. Maybe I'll do that.
I met with the neurosurgeon. Chiari Malformation isn't really a thing in kids. I mean it is and isn't. They did this study in the 50's. All these people who died. They found this statistical incidence of some measurement ratio in the brain. Like...these people all shared this ratio in their brain stem and it was when measurement X exceeds such and such a percent of measurement Y...we shall call this ratio a Chiari Malformation.
But it was a study done on adults. And there is no data on children. Soooooo...when MRI technicians see this magic ratio, they spike it out and a neuro-surgeon magically appears to follow your child through the rest of her days like you said "Bloody Mary" three times in a mirror. Symptoms to watch for...loss of balance, dizziness, head banging, etc. We don't see that.
I asked about followup. She said, people follow up yearly and get a new MRI every five years. But if there are no symptoms, we won't really have anything to discuss. I said...okay...so a year from now can I just reschedule for the following year? "Yes. That would work."
And then I met with the neurologist. She put a giant purple ribbon on the entire encounter by telling me that because Lily two or more seizures we qualified for the "Epilepsy" package! So it turns out that by virtue of Lily's seizures she's considered to have epilepsy.
Here are some things to think about that maybe I never thought of before...Don't leave Lily unaccompanied in the bath (in case she has a seizure and falls under the water) ...or in the swimming pool (jesus...not that I ever would)...or really...anywhere that she could fall and get hurt in mid-seizure. ALSO...we're going to give you an emergency medication in case her seizures last more than five minutes.
Also also...we need to do a prolonged EEG to see if we can observe her seizures to better prescribe seizure medication for her moving forward. Okay...but doc...doc...hold up. Her seizures have all been pretty benign. I mean...she just sits and rocks and drools. No thrashing or tongue biting or whatever. Why even bother prescribing meds. What can it do for her? She only has one about once every three months if that, and when she does...she's recovers in a couple minutes and is good as new.
ohhhhhh...yeah...about that. We have this little thing in the world of epilepsy. Probably you haven't heard. It's called SUDEP. In order to minimize the risk of SUDEP it's important that we get her seizures managed.
Uh...well...it stands for Sudden Unexpected Death from Epilepsy. Fan-fucking-TASTIC! So yeah...
So yeah, we need her to be medicated. So I asked whether the results of a prolonged EEG would dictate which med she took. The doc more or less said that odds are it will be Depakote, but it might be this other drug (can't remember). But before they can prescribe Depakote they have to first do a POL g test because if the results of THAT come back positive, then they can't use Depakote. So I'm on standby while they negotiate with the insurance company to see if they can get the test covered.
Chapter 5: Revisiting the Aide Situation
In September my aide quit. Awesome. It'll be sooooo easy to find a replacement. (spoiler alert...I haven't yet found a replacement). A week after my aide quit we had a meet and greet with an aide. Again...she showed up. Again...I wanted to proceed. I took the day off on her first day to go over stuff with her. She didn't show up to get Lily off the bus. Thank god I was there.
It was probably for the best anyway, because it turns out, an aide can't legally give Lily any medication...including the emergency seizure med already in my house (for a seizure lasting longer than five minutes). So even though she'd have been covering Lily...once the med was prescribed she would have had to get replaced by a nurse.
I had to reach back out to the doc for a NEW letter of medical necessity including the NEW diagnosES so that the insurance could review and approve (they did...and did) a NURSE in place of an aide.
Soooooo...currently looking into the nurse situation. To date...One nurse interested in a meet and greet...failed to show up. In her defense...the agency indicated she had to go to the hospital. That was two weeks ago. She must be REALLY fucking sick. That agency offered me a male nurse instead. I politely declined.
I was super excited to take a half day off today to do a meet an greet with another nurse that was interested! But they called this morning. She took someone else's case first.
If you're keeping score at home that's six no shows. This morning's no show made me a lot sadder than I expected it to. I think I got my hopes up (the nurse thing has gotten more bites in less time than the aide thing ever did) but basically I'm still in the position where the one person who actually makes it to an interview and shows up for work...gets the job. I feel EXTREMELY comfortable with that. SARCASM!!!
Meanwhile my parents have been covering the bus drop offs and I've been attempting to work afternoons from home...which actually works pretty well, but does NOT have the blessing necessarily of my boss's boss and I'm worried that at some point it'll come to a head.
I'm frustrated. I'm anxious. I'm worried. I'm upset. I'm tired. I'm standing.
A friend of mine said this morning when I told her about the latest fucking no-show..."what now?"
And I told her, and I'll tell you...
Recover my mood. Reclaim my patience. Breathe in. Breathe out. Follow up with agencies. Wait. Beg favors from family.
Local nurses looking for work? I can actually guarantee you a job with any of the agencies that staff this shit. Insurance dictates the pay, but it's work. Inquire within...
Epilogue: I've been meaning to write about Rett for a long time. But the cascade of new appointments and diagnoses all needed followups to understand and unpack. And each new appointment generated NEW appointments and diagnostic followups, and it never seemed to coalesce into "the big picture".
So now it has. I mean...I still have bone density scans and other stuff to do, but basically it's a relatively clear picture at this point.
Emma cut straight past the bullshit to a spectacular question..."So does this mean Lily doesn't have autism?"
For 8 years (seven?) I've been blogging about autism, participating in autism groups, even leading them. And here we are...not...autism?
The neurologist indicated she is still on the spectrum, officially. I guess it would be difficult, especially since Lily's Rett is atypical, to separate what is Rett and what is autism. And certainly the symptoms put her squarely within the DSM's current guidelines. But Rett IS genetic. You CAN run a "simple" genetic test and KNOW that your child has it. There's no grey area. No refrigerator mom bullshit. No engineer dad bullshit. No internet caused it bullshit. No overweight moms caused it bullshit. It's just a genetic anomaly...like Down's Syndrome.
But yeah...Lily is still autistic...
...with Rett, epilepsy, and a chiari malformation, and no fucking nurse. I'm going to run out of room on my chest for all these awareness ribbons.