A long ago worry resurfaces

For the last year or so, every now and then, about once a month, Janey does a very odd thing with her eyes.  Basically, she rolls them up so high you can only see the whites of them.  This seems to happen more often at night and outside, when she's a bit tired.  It's a very alarming and scary looking thing, but most of the time, she seems fairly unbothered by it.  Once in a while, she does get upset.  One time it happened in the daytime, and she was trying to walk around, but couldn't seem to see as her eyes were turned up.  I sat her down and covered her eyes for a bit until she got control of them back.  We have tried to catch this eye thing on video, but haven't managed to so far, partly because it's often dark when it happens.

Janey had her IEP meeting on Tuesday, another very nice meeting, her last one in junior high.  She will be at a new school next year, high school someplace, and it's hard to say goodbye to the great team she has where she is.  I almost forgot in the midst of the meeting to ask if anyone at school had seen the eye behavior, but did finally remember.  Her classroom teacher (one of my favorite people ever, by the way) had seen it a few times.  

Later that day, I got a call from the school.  Janey's leg was jerking back and forth, and she didn't seem to be able to stop for a while.  It had happened twice that day.  I spoke to her teacher and also the school nurse, and both said they didn't think it was a seizure (which of course is our biggest worry).  She recovered from the jerking and was cheerful and wide awake.  Everything I've learned about seizures has said that after one, just about universally, the child is very, very tired and goes to sleep.  This hasn't happened with Janey, with the eye thing or with the leg jerking.  However, by chance, Janey's annual physical was the next day, so we agreed with the nurse to bring it up.

At Janey's physical, we explained about the eye events and leg jerking.  Her terrific pediatrician asked us some questions, and agreed it didn't really sound like seizures, but did feel she should see a neurologist.  She gave us a referral and said we should see one within a month.  As often happens, when I made the call at home, there were no appointments available until about 2 months, at the start of April.  I put in a call to see if this was okay, and haven't heard, so we will go with the April appointment for now.

When I was talking to the pediatrician, I brought up something from very, very long ago, when Janey was about 19 months old.  She wasn't walking then.  She was just barely sitting up, so obviously her physical development was very, very delayed.  We were referred to a neurologist then, and saw one, not at a hospital but at our health plan's office.  It's hard to remember the details of that visit, but she ordered an MRI, which we got.  And then I didn't hear, and didn't hear, and finally called over and over and FINALLY got a call from the neurologist.  

I remember getting that call fairly vividly, although I think I've tried not to think about it over the years.  The house was very noisy when it came in, with 3 kids doing their various things, so I went outside to hopefully be able to hear better.  We live near trains, so of course a train was going by.  And the neurologist had a very, very heavy Russian accent.  I could barely understand her under the best of conditions.  But from what I could hear, she said that the MRI wasn't normal.  She said something about there being gray matter where white matter was supposed to be, or vice versa.

It's hard to understand why it seems like there was never any followup on the finding.  I honestly can't even remember talking to Janey's pediatrician about it.  Her old pediatrician was, well, not great for Janey.  He had been very good for the boys, but by that time, he had risen in the ranks of the health plan and seemed to have little time.  He also just seemed to be overwhelmed by Janey's various needs.  I think what happened was Janey's physical development rapidly got better at that point, and as she headed into the year that she was two, her best year, we all kind of put the strange finding behind us.  Two was her golden year.  She walked, she talked a lot, she was even discharged from Early Intervention.  She was going to be fine.  And then, of course, around age three, the horrible regression happened.

But I did recall looking up what it meant to have gray matter in the wrong place, or white matter.  I found it was a condition called Gray Matter Heterotopia.  There wasn't much info then, and I think I didn't dig too hard.  However, I remembered something that had said that with girls with this disorder, often they start having seizures in their 2nd decade.  That seemed very far away.  Now, of course, we are in Janey's 2nd decade.  So I mentioned the long ago MRI to Janey's current pediatrician.  She looked up the long ago report, and read me a bit from it.  

The report said there was a good deal of gray matter where white matter should be, but not enough to make a definite diagnosis.  It also said there were changes to the frontal lobe, nonspecific changes.

Looking up Gray Matter Heterotopia now, there is still not a huge amount of information available.  Here's a Wikipedia article. LINK    It's hard to read, emotionally, what is out there. 

Janey has had another MRI since that first one, when she was 11, but that one was specifically looking for a possible tumor connected to an abnormal blood reading.  What I've read said that unless the MRI is specifically looking for the gray matter problem, it might not be noticed.

So---something I had put out of my mind long ago is now, of course, back in my mind.  One of the two medications Janey takes is an anti-seizure medication, prescribed in her case for help with bi-polar type symptoms.  But it could also be serving to mask seizures, her pediatrician mentioned.  Is Janey having seizures?  Is this the next thing?  I know seizures are fairly common in autism.  How does the gray matter issue figure in, if at all?  Is there something we should have been doing specifically for all these years that we weren't or aren't?  What is going on?

Amid a season of many worries, this one is hitting me fairly hard, I must admit.  Hopefully, we will get some answers soon, and we'll do the best we can with whatever we find out.  That's what we've been doing, and that is what we will keep on doing.  It's what all of us living this life do.

The hospital story continues

I'm waiting tonight for Janey to wake up from sedation after an MRI (which was totally normal), so I thought I'd try to write a bit more of Janey's continuing hospital story.

Monday morning, after a fairly sleepless night,  Tony went into work to try to get in a few hours.  Janey was restless, but not lashing out.  We had a lot of calls and visits.  The medical doctor assigned to her came in and talked tome.  She said any hospital Janey was sent to would require a medical workup before taking her, so they figured they should do  one while she was here---blood tests, an MRI, an EKG and so on. That sounded good to me.  After that, both her regular psychiatrist and her pediatrician called.  Both didn't have too many ideas, and were surprised by the turn of event, but both said basically the same thing, that they knew I was always reluctant to get help or to admit things were as tough as they were, and that they were glad we were going to get help, even if I had to sort of be dragged into it.  I was kind of surprised they both saw that about me.

My dear friends Maryellen and Fab both visited that day.  Maryellen stayed almost all day, which was a huge help.  Fab could only stay a little bit, but she brought us some bread, cheese, chips and a big sour pickle for Janey!  Later in the day, Janey's classroom teacher also came to visit.  She brought Janey a big bag of books and other things from the classroom that Janey especially likes.  We had gotten a visit the day before from a teacher Janey had in the past and really loved too, and for both teachers, Janey had a huge, huge smile and hug.  It is so good to see how much she loves her teachers and they love her.

When Tony got back from work (he worked part of a day), we both talked in a private room with the psychiatric social worker assigned to Janey.  We went over her history, and how her behaviors had so wildly escalated the last week, without a real trigger we could find.  She told us more about the psych hospital procedure---that this hospital calls 3 times a day to look for available beds, and the hospitals either say yes or no, or that they want more information to see if the child would be a good fit for their ward right then.  One of the two hospitals that could potentially handle Janey had asked for her information, but had no room right now.  We asked her about a few things that had been bothering us, like the "sitters" in the room (required, nothing she could do) and how Janey couldn't leave the room (she had to talk to the psychiatrist to see what could be done)

Then----I went home.  I got a ride home with Maryellen, and got home about 4.  It felt hugely weird to be home.  It felt like I had been gone years, not just days.  I was bone tired, but not quite ready to sleep.  I did have to do some laundry, as we were running out, and Freddy and I watched a little Star Trek Voyager and had some pizza.  I did some computer time.  By 8, I was so tired I wasn't even able to really function.  Tony called, and I tried to call him back, but found I could barely remember how to use a phone---truthfully.  But I felt wired, like I couldn't sleep.  I wound up taking some melatonin, some we had gotten for Janey which never worked for her.  It worked for me---I fell asleep and slept until 5 am, when Freddy woke me up to take the train back into the city.

Tony had a fairly good night with Janey.  She slept from 7 until 3 am, which is not even that early a wake time for her.  He talked to the psychiatrist, who he liked, and he fended off a doctor who wanted to wake Janey after she had been asleep 5 minutes to check her throat.

I got back to the room about 6:45.  The plan had been for Janey to have an MRI at 7, but we had heard nothing.  When we finally did, it was that the MRI had been delayed until noon.  That was tough, as Janey hadn't eaten since midnight and hadn't drunk since 4 am.  She spent the morning begging for food and drink.  It was a long morning, but she remained pretty calm.  The contrast to the events of the weekend was incredible.  As it so often does with Janey, her mood had simply changed.

Janey finally had the MRI about 2.  It took a while to get it started, because they were very careful (and good) about how they gave her the anesthesia, I'm sure after reading her records and knowing how she could behave.  They gave her oral sedation, which took extra long to take effect, and then an IV.  We went back to the room while she was under.  It felt very odd being in the room without Janey.  Finally, they brought her back around 6, but she still hasn't woken, as of 8:45.  They aren't concerned, as she is on a monitor and she had so much sedation.  I am only concerned how she will react when she wakes up.

So---I am caught up to the present!  Although the present is still filled with much uncertainly.  When talking to the social worker tonight, we found there is still no progress on the placement.  There was a mention that as Janey is getting better, she might be able to go home instead of the other hospital.  As much as I want her home,  I don't like that idea.  We haven't figured out what made her lose control so badly, we haven't done anything to prevent it from happening again, and I feel quite sure that it WILL happen again, without help.  I don't want this whole ordeal to result in nothing.  I am glad Janey is calmer, but that is what Janey does---she cycles.  Although we all always hope her cycles stay good forever, all who know her know that is most unlikely.  And I don't ever, ever, ever want to come back here as we did on Friday.  So---we will see what the next few days hold.

What Made Janey Autistic #3 in a series

From as early back as I can remember, for some reason, I've been fascinated with genetics.  I've read everything I can find about it.  My sister shares this interest, and we actually used to pretend that our dolls suffered from a rare genetic disease we called Ingalls' Syndrome (I think we were into Laura Ingalls Wilder at the time).  It has symptoms that made dolls, well, doll-like---floppy and not too good at walking on their own.  My sister Carrie came close to going into genetic counselling, and I've kept up my interest through reading over the years.

Genetics, however, when it comes in the form of possibly genetic-linked traits, is not quite as thrilling when it happens to  your family.  But it's certainly a possibility for a cause for Janey's autism.  And a delicate subject.  I'm not going to list family members on both sides with oddities that might be somewhat autism-related, but suffice to say they exist, for sure.  Nobody has full blown autism, but both sides of the family tree are peppered with quirky people.  It's certainly possible that some genes came together that were enough to give Janey autism, or more likely put her in a vulnerable state where getting autism was more likely.

I've always wondered if it's possible Janey has some genetic disease that hasn't been identified, maybe a mild version of one or a mosaic version.  She has a few physical soft markers, little oddities.  One is her toes---the 2nd and 3rd toe overlap, and they are slightly conjoined---not connected, but they seem to share a common root.  She has angel bite type birthmarks when she was a baby that still show up when she cries hard.  A pediatrician at the clinic that diagnosed her said her heart was in an odd position--she even said she thought it might be on the wrong side, but my pediatrician said at most it's more in the middle of the chest than most people's hearts.  She had the late walking, but that's fairly common in autism.  And there was the one MRI way back that showed she had some white matter in her brain where it was supposed to be gray matter, some little dots of it I guess.  But a further MRI didn't show that.  So little things, which of course I've Googled to see if they fit into any pattern, and haven't found one, as of yet.

I do believe that genetics are a huge force in making us what we are, more than most people think or like to think.  I'm fairly sure that genetics have something to do with Janey's autism.  It's another component, along with the first two parts in this series.  When gene analysis gets even better, I might see if a geneticist can have a look at her genes, but at this point, the genetics of autism isn't at an advanced enough point to make that worth it, I don't think.  Until then, I'll call genetics a strong maybe as a cause.

Janey's physical and my talk with her pediatrician

Janey had her 4 year physical yesterday (about half a year late). All the health things were fine, she is growing slowly but steadily. But I decided to pin down her doctor a little more about his opinion of her---I asked him what he thought I should be doing that I wasn't, whether she seemed typical of children with autism to him, what his impressions were. He spoke carefully and said to him she seemed like a child with global developmental delays, with some autistic characteristics, such as her speech patterns. In layman's terms global developmental delays means basically that she is retarded, to use an old and now not correct term. And surprisingly, even though he said that on my birthday, I was not really sad to hear that opinion. It is pretty similar to my own opinion. She certainly might be autistic, but she is also quite delayed in many ways. She seems to have a great deal of trouble learning some concepts, and does not catch on naturally to things like routines or natural flows of life. I asked him about ABA and he said he wasn't really the person to ask, but usually it is not as effective with kids that are globally delayed. That went along with a good book I had read about how children with autism learn, that in some cases you just can't push a child to learn things they are not ready to learn, and often the only way they have of reacting to that kind of pushing is to act out, as they can't explain "hey, this is just beyond me right now, don't push me" She does have her areas of strength, certainly music and perhaps auditory memory, and they might really help carry her far, but I think she might always be delayed to some extent.

Another thing I did was insist he give me the report from her seeing the neurologist a whole year ago. It wasn't that illuminating, mostly it was just her observations of Janey and what we told her about her, but at the very end it gave her guess as to the diagnosis---Landau Klippel syndrome, or acquired epileptic aphasia. That was later ruled out by her totally normal EEG and MRI. But it upset me to see it there. I had asked the neurologist right out if she thought Janey had Landau Klippel and she has said no, all the while, that was exactly what she thought. L-K is a serious disorder where all of a sudden a child loses the ability to communicate and starts having seizures. Sometimes it's self-limiting, and stops at in the teen years, after the damage has been done, but sometimes not. I'm glad that isn't what Janey has, but there are still so many unanswered questions and probably always will be.

The scariest thoughts

I am not the most scared of autism. Although it's not going to be a picnic, I feel somehow we will get through it and Janey will be happy, which is what I mostly care about. My scariest thoughts are if it's not autism really, if it's the other things that were hinted at during her assessment. She needs an MRI. When she had one at 18 months, there were some abnormal spots. No-one explained them well to me. We now need to know what they are. She needs a EEG. She might be having absence seizures. We need to figure out why her heart sounds funny. I fear in my darkest moments she has some kind of horrible genetic disease that will take her away from me. My sister lost her love last month to Marfan's Syndrome and complications of heart surgery. He was 40. He was a special, one in a million person. It does happen. People have terrible things happen to them, for no reason at all.

A few minutes later

I've given in to TV. I am desperate for a break. Janey is watching Sesame Street. I justify this by the fact she did say PBS Kids---she asked for TV! Sure. I am guilty all the time---about everything.

Everything is happening fast. I got a speeded up apointment last Sat. with a team of a psychiatrist, developmental pediatrician and speech pathologist. They all agreed---Janey is autistic. They think there is more, though. She might be having seizures. She might have a brain abnormality---she had an MRI at 18 months to try to figure out her late walking---she finally walked at 2. Her heart sounds like it's in the wrong place in her chest. We see her pediatrician today. I haven't seen him for over a year. This is partly because Janey is very healthy in terms of the usual things---no colds, fevers, throwing up---she is extra healthy. Also, I was having a year of denial. After Janey started walking, and was talking more and more, I decided she was fine. And she pretty much was---until a few months ago, when her talking took a nosedive and she started acting more and more oddly. She started preschool in September, not as any kind of special ed student but as a regular ed preschool kid at the inclusion school her brothers went to. She is in the same classroom her younger brother was in 7 years before. It didn't take long for the teachers and therapists in that classroom to realize they had a special ed kid hiding in a regular ed label there. I had hoped somehow they would never guess. Mostly because I hadn't let myself guess yet.

People all care. People have been wonderful the past few days. It helps a lot. However, I still feel very alone. They aren't responsible for Janey---I am. I am the one sitting here writing while she runs around the house saying "A pie, a my, a pie, a my, see, a lee, see, a lee" She loves rhyming. But it's not fun rhyming---it's instead of speech, not a great phonics tool to help speech.

I am tired of autism already, and it's only been 3 days.