Fragment I

My thoughts are, at best, very scattered now, my mind racing a million miles a minute. Bear with me.

I have read, reviewed, and re-read the email from Jackson's Genetic Neurologist detailing the findings from his MRI. After the most recent re-read, I realized I completely missed the first finding, Unilateral Cerebellar Hypoplasia. So I did what any technologically savvy mother would do and I Googled it. I found it on the NINDS website, which can sometimes be too much information, if you know what I mean.

It was alarming to read the description, particularly because of the reference to Ataxia Telangiectasia which has been a topic of discussion for us before. Jackson now has two of the classic markers of AT, a thought which leaves me anxious. After careful consideration and a discussion with Jason, I emailed Ronni (Genetic Neurologist) to clear the air. Fully expecting a scolding for spending too much time online, the reply I received was not so light hearted.

His reply was as follows:

"Despite the finding of unilateral cerebellar hypoplasia, I still think that Jackson does not fit the clinical phenotype of children with AT, the MRI findings in patients with AT (regarding the cerebellar hypoplasia) are much more pronounced and probably more importantly, as far as I know, have never been shown to exhibit periventricular nodular hypoplasia. I also think that the periventricular nodular hypoplasia finding is the most significant finding on Jackson's MRI.
Having said all of this, as we have discussed before, most of genetic syndromes present with a wide variety and Jackson is still young enough to not present with the all the classical features of AT. Therefore, if you want us to rule this out, we can look into it."

Translation: We cannot say AT is not a possibility. They only way rule it out is to perform expensive time consuming genetic testing. An option we are set to discuss with Ronni this afternoon in his office.

A Googling We Go

Forgive me if this isn't the most clever of posts, but my brain is swimming with medical jargon and new bits of information resulting from my latest Googling marathon. (It should be an olympic event.) Here's what I have come up with so far:

• Unilateral Periventricular Nodular Heterotopia is a conditon of the brain in which gray matter is found in areas where the should be white matter.
• The outer layer of the brain is known as the cerebral cortex or the ‘grey matter’. It covers the nuclei deep within the cerebral hemisphere known as the ‘white matter’.
  Grey matter is the closely packed neuron cell bodies form the grey matter of the brain. The grey matter includes regions of the brain involved in muscle control, sensory perceptions, such as seeing and hearing, memory, emotions and speech.
  White matter is the neuronal tissue containing mainly long, myelinated axon, is known as white matter or the diencephalon. The nuclei of the white matter are involved in the relay of sensory information from the rest of the body to the cerebral cortex, as well as in the regulation of autonomic (unconscious) functions such as body temperature, heart rate and blood pressure. Certain nuclei within the white matter are involved in the expression of emotions, the release of hormones from the pituitary gland, and in the regulation of food and water intake. 
• The genetic mutation that causes this condition also has very serious cardiac implications, causing narrowing of the arteries and heart failure.
• Along with this diagnosis comes the official label "mentally retarded".  The severity of which varies from case to case.

We are somewhat relieved to have some answers and realize the news could have been much, much worse.  On the other hand, this is not the news we were hoping to hear.  We will be taking Jack in soon for another round of genetic testing and an echocardiogram and we'll be sitting down with Dr. Cohn (his Genetic Neurologist) to go over the actual scans.  The results of these appointments, along with the information we already have, should help us process the diagnosis and come up with a plan of action.

MRI Results

We finally have the results of Jackson's MRI from last week. Dr. Cohn, his Genetic Neurologist, called me this morning to discuss it. And this time there actually are some findings to discuss. Here they are in official medical jargon:

Jackson has unilateral right cerebellar hypolasia with intact left cerebellar hemisphere and vermis (although the inferior vermis is lightly small). He also has subtly smaller volume of the left cerebral hemisphere, probably related to cerebellar-cerebral connection. Additionally there is a finding of a left parietal periventricular nodular heterotopia.



What does this mean? I've only had a few hours to digest all of this - and even less time to research it. The basics that I understand at this point are as follows:

• The volume of Jackson's left hemisphere is slightly diminished in size.
• His inferior vermis on his right side is slightly small. (I don't know what this is either.)
• In his left hemisphere there is gray matter where there should be white matter.

This last finding is the most significant. This is a Neuronal Migration disorder, meaning that when the cells of Jack's brain were forming in utero, some of the cells didn't get the message as to where they should be and what they should be doing. Hence the gray matter where the white matter should be. This mislocation of gray matter causes developmental delays, gross motor issues, hypotonia, speech and language delays, and seizures. And while Jack has only had one seizure, post operatively there is significant reason to believe he will have more seizures.

As with many neurological disorders, the severity of issues varies greatly from patient to patient. This condition is rare and nearly never found in live males. Most afflicted males die in utero.

During our conversation this morning, Dr. Cohn said we would be doing further genetic testing specifically, the Filamin A gene. It is very likely that we will find a mutation of this gene, given this is the most common cause of these malformations.

I suspect I will find more information on these issues. I spent a brief period of time Googling the subject this morning and now have a stack of reading material to get through while I wait for my flight home.

I am literally and figuratively stuck in Miami. Waiting for the storm to come, it is remarkably quiet on the normally buslting streets. It seems like a Hollywood set, as I look down on the emptiness below. I can hear the wind whipping around the building. Shortly, I will feel it sway.

I've still had no word from the Genetic Neurologist regarding Jack's scan from last week.

So I wait; for results, for possible evacuation, for freedom from the stifling air that surrounds me.

Travel Karma

I set off this afternoon for the airport, knowing quite well that many flights to the Sunshine State were already delayed. My mind was prepared for a long afternoon at BWI waiting and waiting for my flight to depart. To my great surprise, my flight was on time, thus at 3:05 PM I was on a plane to Miami.

The flight was bumpy, particularly towards the end, which would normally bother me, but I didn't really mind it so muh, feeling lucky just to have left the ground in the first place. When the plane landed, I grabbed my bag from the baggage claim belt and headed off to the rental car desk. I am a "Preferred" member so I don't even stop at the desk. I check the board of names and go straight to the car- where I am really disappointed to find a Ford Focus waiting for me. I wheeled back to the desk and politely asked the attendant if he could give me a different car. After a few minutes he winked and told me the location of the new car and told me to "Have fun". It wasn't until I saw the glow of the cherry red convertible Eclipse that I understood what he meant. I'm not normally a convertible kind of girl but I thought it would be fun. So I hopped in the car and hit the road. I turned on the Sirrus satellite radio to find The Smiths playing and cruised on down I-95.

After checking in to my hotel and ordering dinner, I've settled in for the evening, thankful for my good travel karma. However, tropical storm Fay is due to make an appearance in the area as early as tomorrow afternoon and apparently will be in no rush to leave, potentially hanging around as late as Thursday morning. I am due to fly home Wednesday afternoon, smack at the height of the storm. It seems my good travel karma may be coming to an abrupt and ugly end. But for now I'm here, comfy and cozy and ready to sleep for hours.....

Late night with Ms. Elizabeth Bennett

We spent the day at a cook out hosted by one of Jason's co-workers.  It was a casual gathering, one which we were privileged to be included in, of the hosts' friends and family and we found ourselves at great ease with everyone.  During our Bocce Ball rematch, Jack was bounding around, chasing the feral cats, occasionally throwing his own ball into the match.  Shortly after the seventh point, I looked over to find that Jack was in the midst of another nose bleed.  The game stopped, we tended to our boy, at which point we packed everyone up and headed home.  The rest of the evening was uneventful.

After putting everyone else to bed, I decided that staying up a bit later to lose myself in my favorite Jane Austen movie and blog a bit would be worth the lost sleep.  After blogging my thoughts and getting teary eyed at the overdue union of Ms. Elizabeth Bennett and Mr. Darcy (why is it we're not told his first name?), I closed the laptop and wandered up to bed.  On my way, I over heard Jack whimpering so I poked my head in to check on him.  His face was covered in blood and the bedding smeared with it.  After twenty minutes of tending, changing, cleaning and soothing, all was right again.  

I am now officially worried, words that hardly describe my concern.  I've thrown a load of laundry in and have found that Oxygen is showing Ms. Austen's most popular work again, for which I am ever so thankful to try to lose myself in, again.

You are here.

I am happy to report that our IEP meeting went really, really well.  They have determined that Jack does indeed need five days a week of intensive preschool.  Included in that is three, one on one sessions of speech and language and one session each of OT and PT.  According to several people who have experienced IEPs, this is an incredible plan, aggressive and realistic and we are extraordinarily happy with the outcome.

On another note, we were at Hopkins on Thursday for Jack's brain MRI.  With the exception of an unexpected intubation, everything went relatively well.  Prior to this procedure, I wasn't concerned at all about the results, and was somewhat confident that there was no reason to be concerned.  The MRI was recommended by both Jack's neurologist and our developmental pediatrician as a cautionary measure to make sure we've haven't missed something obvious. When we left the recovery room, the nurse was unusually persistent, encouraging me to "be the squeaky wheel" with regards to getting the official results.  So in my usual thorough way, Friday morning I emailed our Genetic Neurologist asking for the unofficial "all systems normal" email.  (Otherwise it is a month or more to get the official version in the mail.)  His response was unusually fast and not the standard "everything was normal".  Instead I received an email stating,  "I'm having one of my colleagues review the images".  I was clearly taken back a bit.  And while I am trying desperately to not obsess about this, it is difficult, if not nearly impossible to do.  

For those of you who are familiar with MRIs, cat scans, or xrays, you likely know that the doctor who orders the test is not the doctor who reads, interprets and reports on the images.  And in this case, the report and scans were sent to our neurologist Thursday afternoon shortly after the procedure was finished.  So the asking of a colleague to review the images is not part of the normal protocol, and has me a bit concerned.  Again, I am trying very, very hard not to assume the worst.  I am doing my best to convince myself that he is just be extraordinarily thorough. 

Top that off with the fact that Jack had his first nose bleed last week and has had two since then, and I can't help but be a little bit neurotic about leaving tomorrow for another business trip to Miami.  Normally, I welcome three nights alone in a hotel room and time by the pool, a bit of a respite.  However, at his moment I have no desire to be anywhere but here.  

Flip-N-Talk / Flip-A-Switch

Our visit to Kennedy Krieger today was pretty productive. The SLP we met with, Nancy, was really helpful and had some good things to say about our Little Man. That being said however, we still came away with a new communication "device", a Flip-N-Talk. This "instrument" is pretty rudimentary yet very user friendly and highly adaptable. So really, I can't complain.

Except I feel like with every super-duper-sub-sub-specialist appointment we go to, I keep waiting for someone to tell me that we don't actually need to be there. Any moment now I expect any one of the doctors or therapists to tell us that this is all over kill, that he doesn't really need all this hoopla (that's a technical term) and that his delays are exaggerated by my over stimulated parental senses. I keep waiting for the "Oh wait, this is why he has global developmental delays" statement and someone to flip a switch or give us a prescription that magically activates all that Jackson is delayed in. Kind of like when you're having computer problems at work and you finally give in and call the help desk, only to have the technician (a term loosely used mind you) show up and reboot the computer, at which point you discover that there isn't anything wrong with it at all. I keep thinking that someone will reboot Jack and everything will be fine.

Don't worry, I do realize that's not how it is going to work. And that work is exactly what we have ahead of us. Lots and lots of work.

A Blog in Three Acts: Act III

You may wonder why I have titled this and the previous to posts as I have. Well, to be perfectly honest, I had three specific things I wanted / needed to blog about. Collectively it was too much to be posted at one sitting, so I broke it up in the cleverest way I could. (Sad, because it really isn't that clever is it?)

Scene I of the third act comes to us care of our friends at Baltimore County. As you all know, Jackson's IEP is scheduled for next week. During our preparations we've been reviewing his evaluations and other paperwork which makes up the mountain sitting on our family room bookshelf. Our review of his PT assessment put me right over the edge of angry.

In her assessment of Jackson, the therapist states that Jack consistently meets the skill set of a 19 month old, with scattered skills up to a 32 month level. But during her summary she ranks his overall skill level at 32-35 months. In order for Jackson to qualify for services he has to have a delay of 25% or more. An assessment of 32-35 months is an impossible statement. And so I emailed her (and our service coordinator) to find out how she came to this conclusion. Her response? "Oops". Really. Six other county employees have seen this report - no one else has even commented. How in the world can an organization function like that? Particularly when the level of assessment determines eligibility for services. Does anyone really READ the assessments? (The answer seems a bit obvious doesn't it?)

Scene II opens with yet another email to our county friends, a gentle reminder that the IEP has been changed from 1:00pm to 9:00am. (I can't assume anything when it comes to county communication skills.) I was floored when the responses rolled in. "I didn't know it had changed - I can't be there at that time". "I'm on vacation". "I had no idea it changed. I hope the visual coordinator can still come".

Now lets keep in mind that I've made no secret of the fact that I expect this to be an unpleasant experience. Our service coordinator has told me repeatedly that there is nothing to worry about, "it isn't as bad as the stories you've heard". Forgive me if I'm not trusting of that statement. Their track record thus far is less than convincing.....

A Blog in Three Acts: Act II

Some of you may have read one of my previous posts about the brave and beautiful Vicki Forman, whose son, Evan passed away two weeks ago. In it I posted the link to her very special article "The Mother at the Swings". It has moved me in many ways and has been hard to forget.

She wrote about something I've never given any thought to, but have certainly been affected by. In her article Vicki talks about the premature birth of her son and how the social worker at the hospital warned her about the reactions she would likely receive from friends and family. There were three categories given: The rocks, the wanna-be-theres, and the gingerbread men. People who you once thought were your rocks could unexpectedly turn into gingerbread men, running away as fast as they can when they learn of your child's disabilities.

This is a sad reality for many parents of special needs children. I have recently experienced it myself with someone who was once, one of my most solid rocks. Now I am avoided like the plague - with no phone calls, no emails, no contact at all. And I am heartbroken. I have tried in vain to reconnect, only to be left with a string of unanswered emails and unreturned phone calls. It wasn't until I read "The Mother at the Swings" that I realized what had happened. That realization stings me to the core and I am at a complete loss.

I am however, thankful, so very thankful, for the scores of friends, family and coworkers who do support me and my family. And while the sting is still there, knowing you are all there, reading the blog, leaving your comments, and emailing just to say "Hi" certainly helps soothe it.

Q: What kind of friend abandons a friend in the midst of difficult times?

A: Someone who was never really a friend to begin with.

And that is truly a tragedy.

A Blog in Three Acts: Act I

First there is good news and there is bad news.  The good news: At his PACT assessment today, we learned that Jackson does indeed qualify for their daycare.  The bad news: PACT does not allow for pick up and drop off by Baltimore County.  Translation: I'm in a pickle.  A big sour puckering pickle.

In my mind I had already worked out the details of my daily routine, should we move him to PACT. I would take Ainsley to school, then drop Jack at PACT on my way to work.  Baltimore County would pick him up and take him to preschool, and promptly deliver him back to PACT around 11:45am, where he would stay for the remainder of the day.   And while it would be very hectic for me, it would be possible.  Now I'm not so sure.  Baltimore county schools start round 9:00am (give or take 15 minutes).  Which means if I have to drop Jackson at school, my work day will not start until 9:30 or so.  If I have to leave by 4:30 to pick up both kids by 6:00pm my work day is cut impossibly short.  I'm not sure how we'll manage, but we've decided that we have to make it work.  It is unfair to neglect him of any resource that could potentially be an integral part of his development because of scheduling issues.

Red Bull will likely become a morning staple for me....

Cramming

We are in the midst of preparing for several major Jackson happenings. The first is his official assessment at the PACT World of Care Daycare to establish his eligibility for the program. I'm not too worried that he won't qualify, everyone (including the social worker at the daycare) seems to think he's over qualified, never the less, we will go in as prepared as possible.

The second happening is a visit to and assessment by Kennedy Krieger's Assistive Technology department. The purpose of of our trip downtown on Monday is to explore other state of the art communication devices that may be useful for Jackson in the classroom and other public settings.

The dreaded IEP is scheduled for the morning of Wednesday the 13th (lucky number 13!) During which we will be surround by twelve county employees (administrators, educators and therapists) telling us (hopefully in a well thought and educated way) what services Jackson needs and what services they're willing to give him. We're pushing for an intensive 5 day program but we've been warned there is no guarantee we'll get that. (These people don't know me very well...)

And then rounding out the week, next Thursday Jackson and I will travel the well worn route down I-83 to JHMI for another brain MRI. The doctors are fairly certain that everything will look normal, but it has been over two years since his last MRI and they want to be sure nothing unexpected has happened in that crazy little brain of his.

In preparation for our upcoming educational encounters, Jason and I are sitting down over the course of several evenings to go over all the paper work; The private and county evaluations, doctors reports, standing orders, Jackson's previous IFSP (educational plan), an acutal IEP, Parent advocacy laws and rights, etc, etc. It is of the utmost importance that we are a completely unified front in our battle to get Jack the resources and services he needs. Preparations which seem a bit like cramming in college - although we haven't pulled an all nighter - yet.