Category Archives: Focal Cortical Dysplasia in Babies

Humble Beginnings, with video

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When we started this journey, we like others took video. I never posted it however, because quite frankly, this was a very short part of her journey.  And everything happened so quickly, I just never dwelled on this media until recently. And lately, I have had numerous requests for “what did it look like for Savanna?”

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She presented classically as do some infants with FCD (focal cortical dysplasia), meaning a severe structural problem in one are of the brain that affected her brain globally.

She did have “hyps” (hypsarrhythmia), a specific kind of chaotic brain wave pattern, diagnosed only with EEG (electroencephalography equipment, i.e. all those electrodes glued to her head). She had the clinical presentation of the Infantile Spasms, as seen in these videos. Rebecca had noticed the regression.

It was emotional for me to look back and watch these videos with my current level of knowledge of what it really meant. We knew nothing of what we didn’t know.

You can hear this in Rebecca’s voice in the first video, as Savanna was experiencing a cluster of IS (Infantile Spasms) before we knew it was IS, (or West Syndrome).

These videos are just a few days before diagnosis. You can see in the first one, where capture begins in the middle of a cluster, that the spasms were rather violent as she was very healthy at this stage.

 

The second video starts mid IS cluster, and ends with a complex partial seizure. During the IS cluster, you can see the momentary collection of wits in Savanna as she cries, then it just all goes away, and “Boom!”, a seizure. She experienced a classic ‘salaam’ seizure pattern (in clusters of about 8), where her head and arms flew outward and then immediately contracted inward in the matter of a second or so. She always had a right to left roll of her head as well which I think was indicative of the FCD.

At about 49 seconds the complex partial seizure starts. It is not a cluster, but just one seizure that lasts about 25-30 seconds.  There are no words to describe my feelings when I hear her single sneeze at about 10 seconds into the complex partial seizure. This would become a trademark I could count on later in her life.

 

The third video is another collection of Infantile Spasms. She is more tired in this video, as the seizure are taking their toll.

 

The final video is in the hospital after an unnecessary ordeal in the pediatric ER and several hours of VEEG monitoring. This was one of many events caught during our first VEEG, which went for nearly 36 hours.

 

Pediatricians and PA’s are the first to see a child presenting in this manner. Parents don’t know the emergent nature of the situation, they just know something is wrong. Many doctors might mistake this for reflux, Sandifer’s syndrome, or the Moro reflex.

If you suspect your child has this condition, I would recommend the following action:

  1. Take a lot of video. Try to get the entire body in frame.
  2. See your pediatrician first, with video in hand.
  3. Email the pediatrician videos.
  4. Be as pushy a necessary to get to the doctor, but a good video seen on the doctor’s phone between clinic visits will drive action quicker than just being a pain in the ass on the phone.
  5. The pediatricians consultation with a neurologist can streamline your experience in the emergency room. While this is an emergent matter, it is not immediately life threatening, and therefore not a condition properly handled by most Emergency Rooms. This is not judgement of emergency rooms or their staff. Rather, it is recognition that they are not staffed, equipped, or trained to diagnose and treat this condition with authority. They will initially go down a path of eliminating possibilities of what might be provoking the seizures, which is noble and correct, but an endeavor best addressed in an in-patient setting. Unfortunately, one must typically penetrate the membrane of the ER to access help in this scenario.
  6. Get informed. See the Links and Resources section of this blog for a start on where to go for information and help.

2 Years Ago, It Was Christmas 2011, and…

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2 Years ago today, I was in a hospital with Savanna on Christmas Eve, a few days out from the life-altering news Infantile Spasms diagnoses bring.  Like nearly all parents blindsided with this situation we followed doctors recommendations for a treatment plan without question.  In reality, we were just trying to survive.

2 years ago, we didn’t know our baby had focal cortical dysplasia type I and IIa resulting in a lesion spanning the temporal, occipital, and part of the parietal lobes in the left hemisphere of her brain.

2 years ago, we didn’t know our baby would experience refractory complex partial seizures that would leave her severely developmentally delayed.  The seizure activity was so frequent, her potential development was largely unknown.

2 years ago, we initiated advanced genetic testing for which we are still waiting on results today.  Off-the-record phone conversations have revealed no definitive genetic cause, for reasons outlined in this post.

2 years ago, we had no idea our baby would (or even could) undergo radical surgery to rescue her developing brain from the intense seizures.

2 years ago, I had no idea that Savanna was in a small sorority of patients  eligible for surgical treatment and how it is such a blessing.

2 years ago, I thought I was good father.  I thought I was a good husband.  I thought I was pretty smart.  During these last two years, Savanna’s condition has cleansed me of many of these misconceptions.   I am now better at all three.  Absolutely nothing can prepare you for this situation as a parent.

2 years ago, I never dreamed I would stay at home and raise children, lead the care of a special needs child, attempt to manage refractory seizures; learn about epilepsy.

2 years ago it was Christmas 2011.  I brought our baby home from a 9 day hospital stay that included her first big ‘diagnosis day’.  You can read about the emotions of that day here (not well written, sorry!)  I thought it was ‘over’; meaning, finish the ACTH and then she is okay right?  For some yes, not for Savanna.

Today, I marvel at the progress modern medicine has allowed her to experience.  Faith in God, following his guidance, and trust in his leadership has proved righteous.

Today Savanna continues to impress us with her abilities that advance daily.  Delays are still present, but far less noticeable.

Today, Savanna still has challenges, but not seizures.  That is nearly 210 days!

Today Savanna is not cured but, her epilepsy is in remission.

Today, we as a family thank the Lord for his guidance and support.  I thank myself for listening.

Today, I help others blindsided with this situation.  Savanna’s outcome thus far is not the same for all, and this knowledge is humbling.

We are in the middle of a trip to Kentucky and Virginia.  The usual sicknesses have afflicted our family somewhat.  It happens when you transplant an entire family to a new location.  Overall, we are healthy and thankful for the journey.  Being around family is great at Christmastime.

Have a Blessed Christmas everyone and safe travels!

-ken

6 months seizure free…

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Six months ago today, Savanna underwent a complete TPO resection led by her neurosurgeon and epileptologist, Dr. Tandon and Dr. Von Allmen respectively.

The process started very early in the morning. About 3 pm we spoke to the epileptologist. Tears were shed. Hugs all around. Then we did it again at around 5pm with the neurosurgeon.

Each day, I thank the Lord for giving us a fresh new day, and pray it will be filled with happiness. (I don’t think he hears me everyday?) Each day I also ask for forgiveness for my sins of yesterday and His help to be the best husband,low res -7437 father, and friend today.

What has changed since the last post at 4 months?

low res -7647Savanna and Austin turned 2 years old on September 20th. The picture to the left is very different than a year ago! A couple of days prior, we participated in a Memorial Hermann Hospital marketing campaign highlighting the benefits of MEG technology. Our local ABC13 filmed the event and interviewed us and our doctor. The 90 second news clip is here. Rebecca’s full 12 minute interview resides on their website.

Foremost on my mind today, is that I don’t believe she is having seizures or even epileptiform activity, but I cannot say this for certain. She has reached 6 months without a clinical seizure that I have witnessed. Most doctors and surgeons would harbor a guarded optimism about her future, but at the same time would suggest this is a big milestone given the circumstances.

She has almost completed cutting her two-year molars. While difficult, it has been sweet to see her struggle through this period with relative normalcy. She simply could not experience this in the past.

She walks around the house at will. 2 months ago, she could only take a few steps, seen here.

She has learned to stand up on her own, without help from furniture.

She can safely navigate steps. We do not knowingly let her do this alone.

She can focus on an activity for more than 3 minutes regularly. This has been a huge step forward with regard to self-regulating her behavior.

She can point with her index fingers and can operate simple cause-effect toys.

She has started to deliberately put toys into a container, in a very controlled environment.

She can roll over somersault style, a bit sideways, but she can do it.low res -7658

She understands when you are not looking at her. For example, when you holding her while talking on the phone, she will deliberately put her hands on your face and try to turn your head to look at her. Or, she will ‘look around the corner’, to see your face. When she does this to me, it feels great as Savanna is still decidedly a Mommy’s girl – if Mommy is in the house. This indicates increased awareness and it is exciting!

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All of these milestones are wonderful to watch. This 6 month milestone is a breath of fresh air. It is reinforcement for me that the surgery, the hard work every day with her sensory diet, and the physical and developmental therapy, is working together to allow her to thrive. When I reflect on the what she has learned and how quickly, I believe the therapy has helped immensely.

It is not all cake and ice cream though.

While she is eating well, she is very finicky about what she eats. And, she still won’t reliably drink thin fluids. She will not suck at all. This is very frustrating. Yes, you can sit and spend 1/2 hour forcing her to drink 3-4 ounces of fluid if she is really thirsty. But she will aspirate – a lot. Right now she is very healthy and seems to clear her lungs well. I am not without pause here, as throwing caution to the wind is dangerous. All it would take is a moderate cold combined with aspiration of fluid filled with bacteria (such as milk or formula) and you could have a serious problem. I will be trying another feeding clinic in the coming months.

Now that she is walking, the visual field cut is becoming more clear. She has really hit things hard where it was obvious she was walking and just didn’t see the table or corner of the wall just off to her right side I know these incidents will dissipate as she learns to compensate. But, it hits really home realizing her visual field cut is large enough to most likely prevent her from obtaining an operators permit for a vehicle. I know some of you might think it is odd that I would think about that or mention it now. But she is doing so well now, that it doesn’t seem out of reach – much like it would seem for a normal 2-year-old.

I have noticed Savanna ‘pausing’ at times, and so have the therapists. I say ‘pausing’ not staring because while she is paused, she is not focusing on what she is staring at. You can put your hand right in front of her eyes with no response. These events don’t seem to affect her motor function and are short. She does always seem to respond to the sense of touch. Is it partial seizures I am witnessing? Probably not, but I am not sure. I am sure we will catch some of these events on an upcoming 23hr VEEG.

She has stopped saying the consonant sounds she was saying at 4 months. She was saying about 5 sounds with and without prompting. Now, she has other noises that include sounds like what you might hear ‘Curious George’ make, and a growling sound. Is it a regression? Is she intently focused on her new-found independence being able to walk, that this has been sidelined for now? Or is it…. something else?

She flaps her hand a lot when she is excited. It looks suspicious. Is she really saying ‘Hi?’ Or is it…. something else?

She has a fascination with putting her finger into holes. It dominates every therapy session and at times takes away from the session. Sometimes, without a fidget toy that has holes in it, I can’t even get through a therapy session. She finds dimples on plastic toys that looks like holes. She is fixated on finding assembly screw relief holes on toys, cloth loops, etc. She can be obsessed with inserting her fingers into such holes. I have to say the last week this activity has lessened. It was cute at first. It enabled her to regulate her behavior somewhat at first too, so I encouraged it. Is it just a developmental stage? Or is it… something else?

I recently took them to the pediatrician for the 2 year wellness checkup and flu shots. I completed the M-CHAT (Modified Checklist looking for Autism in Toddlers) and she scored really high for ASD. Because I have done my homework, I knew this was coming. Yes, she is delayed, but the loaded questions regarding ASD are not about development, they are about ASD. Her exome sequencing indicated a significant chance for ASD. And, ASD manifests in significant percentage of children diagnosed with Infantile Spasms. An evaluation is forthcoming in her near future.

If you were to see her today for just a short while after not seeing her for some time, these things I mention would not be part of the memory. I believe the questions about ASD are challenging to definitively diagnose or dismiss at this stage. That said, I cannot ignore what is happening or hope it just ‘goes away’ as that would be foolish on my part. I cannot ignore the science that I have subscribed to thus far. I believe early diagnosis and treatment is the best course of action.

She surprises me with her development at times.

She inspires me as a leader daily.low res -7584

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Her encouragement, although ambiguous at times, motivates me to lead her to success versus micromanage her challenges.

A short note about the rest of the kids.

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Tristan started Kindergarten this year. He loves it! He has always loved to learn and thrives in the structured environment. He is playing soccer at the Y this fall and is doing quite well. He recently ran in a Boosterthon FunRun race and ran about 2 miles. Mommy and Brandon cheered him on.

Brandon is something else. On the cusp of turning 4 on October 7th, he continues to say really off the wall funny things. He has always done this, but it continues to get more entertaining. Right now, he is participating in PRE-K4 soccer at the Y – (a very questionable use of funds 🙂 ) His first game, he just walked right beside the coach and held his hand. His most recent game, he at least ran and was able to kick the ball. He is very shy as it turns out, and I guess in Tristan’s shadow I didn’t realize it. He is protective of Savanna while being playful in way that she just loves. Hearing that deep belly laugh from Savanna when Brandon is playing with her is wonderful.low res -7492

Austin is doing great. He is so intent focused on keeping up with Brandon during the day, and the ‘big kids’ at other times. He has a lot of new words now and is growing up fast. It feels like his first year was just a blur. I am glad we have some video to reference!low res -7483

Ruth, our Au Pair from Australia, is working out really good. It has enabled me address a hernia repair that was long overdue. Our daily routine is working out well enough for me to start working out again and it feels great. Rebecca and I have enjoyed a couple of date nights – we almost forgot what that was like. Ruth has really been good for our entire family.

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