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We often refer friends to our post(s) on our experiences with Ben's Tuberous Sclerosis Complex, as of yet these are:
--- Our introduction to this disease and basic timeline February 2012 through July 26, 2013.

Friday, July 26, 2013

Our Personal Introduction to the World of Rare Diseases (Tuberous Sclerosis Complex)

Well, my usual disclaimer about extremely infrequent blogging, but this is a long story I really need to explain in one big chunk.

Ben is our sweet little now-2-yr old who is generally healthy, but turns out to have Tuberous Sclerosis Complex  It is a genetic disease that mostly hits the central nervous system and skin, but can also affect heart and kidneys. There is a really good explanation on the Tuberous Sclerosis Alliance website:

Our timeline so far is as follows:

February 2012: First Signs of Trouble - Initial Diagnosis

  February 2012: we started noticing some odd incidents where Ben would seem to mentally "check out"; he would be trucking right along (shoveling food in his mouth or whatever) and then completely go blank - as if he was asleep, but with his eyes open and staring. I noticed a few of these over about a week's time, but they were brief and subtle, so I just figured I'd mention it to his pediatrician since we were scheduled for an appointment the next week. I did, however, start keeping my camera within reach and set on "movie"... (Note: I was a Special Education teacher, that likely heightened my awareness of these events, but also helped reduce my panic level - I knew these incidents need serious attention but are not immediately harmful unless the person stops breathing or the seizure lasts more than 5 minutes)

  The day before his Dr appointment his little spells escalated to include his whole body going stiff when the stares set in. (Looked like he was reaching for his toes and got stuck). Afterward he would be disoriented for a few minutes and then really sleepy for up to an hour.

   Warning: most of the videos on this post are pretty sad. Feel free to skip them! I almost didn't include them, but I feel it is important for other people to recognize these sorts of things when they see them.

  This is what I called a stiff-and-stares, they are technically called Tonic seizures:

2/16/12 I took that first video into the Pediatrician and she immediately referred us to a Pediatric Neurologist at Children's Hospital of Wisconsin.

2/20/12 We were fortunate to be able to get an appointment reasonably soon - especially since about 8 days after the firtst Tonic seizures emerged, he moved on to full blown Tonic-Clonic seizures (the big shaky ones formerly called Grand Mal).

(Very Sad video again! Sorry!)

2/21/12 Ben had his first EEG (ElectroEncephaloGram - where they put electrodes all over head a record for about an hour) It showed frequent "spikes" (glitches in what should be relatively smooth brain waves) in the right rear section of his brain, both sleeping and awake, even when no specific seizure was being observed.

2/23/12 1st visit with Neurologist : We were told this type of seizure activity is not all that rare with infants - they may just have an underdeveloped patch of neurons. The good news is that they very often outgrow this kind of thing. The child is typically put on anti-seizure medicine for a year or two (to give the brain time to work things out on its own) and then they slowly taper off the medication and see what happens...

2/24 Ben was put on Depakote and the seizures disappeared pretty quickly. 
     (Note: to avoid side effects, most seizure medicines start out at very low doses and work up to the full prescribed dose to avoid serious side effects. Also, Depakote is dangerous to the liver, so we had to get lab work done a week after reaching the targeted dose.)

February 2012 - September 2012 Depakote working fine to control seizures. A couple side effects:
     - He is a pretty sleepy little guy - sleeps 10-12 hrs at night and still takes 2 naps a day (1 hr in the morning, 2-3 afternoon
     - The medicine and makes him terribly constipated (diet change wasn't enough to sort things out and we had to add Miralax to his drug list).
     - He is a bit delayed in developing motor skills. The pediatrician referred us to the "Birth to 3" program in our county which provides support families of children with delays or disabilities under the age of three, including physical/speech/occupational therapy according to need and with pretty low fees based on income. Their evaluation shows him to have a definite delay in Gross Motor skills, but not so low as to require intervention from their program. FYI: he didn't crawl on all fours until around 11 months and didn't walk until 16 months - not super bad, but on the low end of the scale....

September 2012: Mysterious "Birthmark" leads to Second Diagnosis

9/17/12 At Ben's normal 16 month checkup (which should have been at 12 mo - :-( ) I mentioned to the pediatrician that Ben's odd little "birthmark" seemed to be growing a little. The "birthmark" was a little patch of pale skin on his chest:

The ped. wasn't super concerned, but gave us a referral to a pediatric dermatologist.

9/20/12 The dermatologist looked at his pale patches and another spot we had assumed was another birthmark - a bumpy little patch just above his bum that was also paler than the surrounding skin. (Note: Our other children had hemangioma birthmarks, which start out dark red and raised but shrink back and fade by the time they are 2ish; this bump had pretty much looked like those do after they fade out.) It turns out that the pale patch on his chest is called an angiofibromas  or "ash leaf mark" and the one on his lower back is called a fibrous planque. These type of skin marks plus his history of seizures quickly led to a preliminary diagnosis of Tuberous Sclerosis Complex (TSC)
     Basically TSC is a genetic disorder that can cause non-malignant tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. It can be inherited, but in his case is is believed to be a random mutation. It can have a wide range of effects, ranging from basically none (maybe just mild skin stuff) to crippling seizures and severe developmental delay or even Autism (patients may be completely mentally disabled).(There is a more thorough explanation on the Tuber Sclerosis Alliance webpage.)
     The dermatologist immediately ordered an MRI, heart exam, ultrasound of the kidneys, and complete eye exam.
9/24/12 MRI performed. (My poor Ben had a rough experience; it was difficult to get an IV in and during the test his oxygen would drop; they'd decrease the sedative and then he'd start waking up... so back and forth trying to balance the medication properly...) A couple days later the neurologist called us personally and asked us to come to the clinic in the next 2 days.

9/27/12 Diagnosis of TSC confirmed. Ben's MRI showed lots of little "tubers" (lumpy little tumors) scattered all over his brain. 
     Ben's tumors were/are quite small and we were told they typically do not grow, although they may appear to as the child's brain grows and the MRI becomes more distinct. One kind of these, known as subependymal giant cell astrocytomas (SEGAs), can block the flow of cerebral spinal fluid in the spaces (ventricles) in the brain -- those are the most dangerous for mental problems. Thankfully, Ben does not have a SEGA. Other mental challenges can pop up, though, whenever his brain hits one of the "road blocks" -- these can range from learning disabilities to autistic-like behaviors (repetitive motion being a more common one) to genuine Autism. 

10/15/12 Cardiac appointment, including both an EKG (electrodes again) and an Echo Cardiogram (ultrasound of heart). These showed no tumors or other heart complications (YAY!). Heart ones don't generally show up later - they are present at birth or not at all, and they often shrink over time, for that matter. (Double Yay!)
     Ultrasound of kidneys also performed, again no issues - though this test will be repeated yearly because kidney ones can pop up later in life. (Hmmm...)

Later in October 2012: Complete eye exam by pediatric ophthalmologist performed. No complications apparent, Unlikely to occur later but we are recommended to check back around 10 yrs of age and/or in the unlikely event vision problems do emerge later in life.
Sooo... Pretty much Ben was still just having the seizures to deal with....

January 2013: Storm Watch?

Early January 2013: We started to suspect Ben's Absence seizures were creeping back into his life --- Particularly noticing he'll go from playing happily to being very sleepy in a few minutes time. But it's almost time for a Neurology checkup anyway....

January 7, 2013: Neurologist said the re-emergence of seizures was not a huge surprise since Ben had gained a few pounds (dosage is based on weight and 2# is a much higher percentage of Ben's weight than it is of mine!). Depakote increased by a bit. I mentioned Ben's tendency to bit on the sleepy side and my concerns that would get worse with a higher dose. To counter that, Levocarnitine was added to his medications. Levocarnitine helps the liver metabolize the Depakote better - it can protect the liver and also alleviate some of those side effects...

Thankfully the Depakote increase and the addition of Levocarnitine alleviated the seizures and greatly reduced the sleepiness.

New "Tricks" Make Mama Suspicious

Mid-May 2013:  I began to be suspicious those old seizures were back again. I also noticed he was a bit wobbly/shaky at times - specifically dropping toys and stumbling while walking.

May 22: I was playing with Ben on the floor when he abruptly stopped, fumbled and dropped his toy, and did a couple funny little shakes - as if he had been startled or frightened. It only lasted a few seconds and he didn't loose any consciousness, but he was a bit shaky for several minutes (as if shivering).

May 25: In the afternoon my husband and I both saw another of these episodes while he was standing at the gate. Again, no loss of consciousness and he didn't even fall/sit down. It was Saturday, so we just figured we'd call the office on Monday.
    That Evening, though, he had a prolonged incidence of this behavior - several "jumps" in a row and almost 12 minutes of "shivering" followed by extreme sleepiness. That was enough for me to call up to the hospital for the on-call Neurologist! They questioned me closely, warned me to come to the ER if the "big stuff" lasted 5 minutes or more, but in the meantime to get Depakote levels checked and talk to our specific Nerologist...

May 18 - June 21st: To compress the story a bit, I'll just say that initially the plan of attack was to increase the Depakote (since it had worked before). Unfortunately it didn't really help - the events still continued to happen pretty much every day - most especially in the mornings (right before and after his morning dose). Here's what the "little" ones look like (a bit hard to see unless you are observing carefully:

June 21: Latest theory from Neuro is that maybe the Depakote itself is the cause - it can cause trembling... (I confess I was skeptical - in a year of treatment we'd never seen this). The dose decrease had no positive effect - the events were steadily getting worse. One thing rather puzzling to the Neurologist (and why one initial theory was that it was something other than a "real" seizure) was that Ben stayed completely conscious throughout the entire event(s) - he'd start walking off while still having waves of the big jerks.... You can see that in this video from June 24:

June 25: Neuro adds Keppra to Ben's medication. It can be used with Depakote, but since the Depakote is still under suspicion for the "little" tremors, we would taper him off of it as soon as we reached a full dose of Keppra. (This is one thing I HATE about seizure medication - because you have to taper on and taper off it takes a Long time to see if something will work!)

July 7: Up to full Keppra, almost off Depakote, time for our Neurology appointment. Went over the history of these recent events, said Keppra seemed like it might be helping but not all the way (no escalation and fewer "big" ones, but no event-free days yet... Keppra dose increased again.

July 19: Still having a rough time; Keppra increased yet again... Possibility of being admitted for observation mentioned. 

July 24: A couple more bad days in a row = admitted to Children's Hospital (CHW) epilepsy observation unit... No fun getting a bunch of wires glued to your head - and the helmet required to go to the playroom is the final insult!!!

"Big Brother" Weighs in: Conclusions from Hospital Observation 

Ben "performed" nicely for the technicians and nurses - several events that evening of varying severity and a bunch of the big ones the next morning. Upon reviewing the EEG graphs and video recordings, the Neurologist concludes that these events are clusters of Myoclonic seizures, typified  by brief shock-like muscle contraction. (Note: The TSA has a great page explaining the various types of seizures.) The Neuorologist also reported that Ben is having a lot of "spikes" on the EEG even when seizures are not apparent. The mis-fires are on both sides of the brain but mostly in the back. (Remember, it was only right-rear last time...) Since it is not "just" the seizures, the Neurologist is adding Felbamate to Ben's medications. When we hit the full dose of that, they will taper off the Keppra...

Tune in Tomorrow... (or in a month or two)

Well, that's it for now. Personally, I'm most concerned about the near-constant static more than the individual (observable) seizures. Here's hoping the Felbamate does the trick! The most fun is going to be that Felbamate requires weekly blood tests for up to six months, (then monthly for a while, etc.) because it can mess with blood counts in a serious way, as well as the usual potential liver damage. We have been reassured the blood trouble is pretty rare and hasn't happened in children, but still...

Other continuing concerns are some lingering delay in gross motor skills (but not super-bad anymore) and a noticeable delay in speech - he is 26 months old, has only about a 10 word vocabulary (if that) and does not put even 2 words together.

So, I'll try to keep things updated on here a little better, but if you want more timely updates please look for me on Facebook (Jennifer Haroldsen Higgins)....

Our sincere thanks to our families and friends who continue to be so supportive of us during this long journey! Many of you have brought treats (or even whole meals!) over and others have tended our other children when we've been pretty overwhelmed with the details of this adventure... And we really appreciate the love and prayers extended to us and our little sweetheart. We are very blessed.