kenlininger@gmail.com for comments or questions.

Updated November 27, 2014

Savanna’s Journey started in September 2011 at 8:45 pm in a hospital in Southern California where she was delivered without incident via C-Section along with her twin brother, Austin.  She didn’t breathe as quick as her twin (born 15 seconds later), but she was given a clean bill of health, and an Apgar score of 7/9. (Austin had a 9/9 score.)

The first two months, she developed normally, but never lost that googly-eyed look as Rebecca called it.  Having two other children, we felt familiar with the development process and the novelty of caring for a newborn was replaced with experience and parental gravitas.

9 weeks old

Around 9 weeks, Rebecca commented that Savanna was experiencing something odd.  Something was wrong.  She was different, but she/we didn’t know how or why.

While trying to understand what was happening, Savanna stopped smiling, rolling over, and holding her head up.

She cried a lot.

A lot more than our other three children. She just seemed so unhappy often, and we just couldn’t get her to stop crying.

Rebecca and I were both working in high visibility positions.  I remember having one of the those 5 pm “How is it going at home?” chats with my boss.  I recall telling him something like “Something just seems wrong with Savanna, she cries and cries and cries. I am exhausted, Rebecca is exhausted, and we are a bit lost, even though parenting small children is not in any way new for us.”  Something like that…

11 weeks old

Rebecca witnessed a few episodes prior to the official diagnosis, but we really didn’t know what was happening at that time.  Her situation progressed very rapidly at week 11.

A fever and repeated ‘episodes’ with one caught in the pediatrician’s presence guided Rebecca with Savanna to a hospital ER on a Friday afternoon.

Savanna was diagnosed two days later on a Sunday, December 19th, with West Syndrome – Infantile Spasms, (and complex partial seizures).

The workup to determine etiology was rigorous.  Dr. Mary Zupanc was leading the team treating Savanna and she was an expert in childhood epilepsy.

A complete family history with seemingly unrelenting questions, a recount of birth details beyond what we ever really thought about, detailed description of her first months, a complete physical, an MRI, CT scan, an exhaustive search for an infection and/or injury which included drawing what seemed like enormous amounts of blood, an advanced lumbar puncture to collect CSF in a controlled manner to investigate metabolic diseases that cause seizures, and a 40 hour VEEG was conducted in those first three days.

[After the first day, the policeman guarding our door disappeared.  It became obvious that we didn’t abuse our daughter, so his services were no longer needed.  It is sickening to think this is needed at all.]

In parallel, a first round of targeted targeted genetic testing looking for common genetic variants that could be explanatory for her epilepsy was undertaken.

So now what?

Dr. Zupanc acted aggressively – and we didn’t know anything different at the time. She recommended a course of ACTH (a frontline treatment for IS). It began in hospital and continued at home. We gave her injections of a hormone.  Specifically, she was on a 6 week course: 2 weeks up, 2 weeks at the target dose of 150 iu/m^2, 2 weeks down.

(ACTH dosage is calculated based on skin surface area, not weight like most other medications.  And the FDA recommended dose is 150 iu (international units) per meters squared of body mass which is calculated using head circumference and length (height).)

The IS seemed controlled at a 2 week follow up EEG. But partial seizures remained.  Sabril was added at this time, with a titration up to 200mg/kg/day over about 2 weeks.

During a clinic visit on day 11, surgical treatment options were discussed as possible treatments in the future.  Dr Zupanc felt strongly Savanna had Cortical Dysplasia despite the ‘normal brain’ impression noted on the official MRI report.

Her age complicated the procedure. And front-line treatments were proving effective, so the plan was to wait until she was larger for surgical consideration if the epilepsy persisted.

5 Months

A FDG-PET Scan revealed abnormalities, but it was unclear how the abnormalities related to Savanna’s phenotype.  The results were not indicative of Cortical Dysplasia.  The official impression was ‘abnormal brain’ but with respect to low uptake in the basal ganglia area.  This suggested a possible metabolic problem, but to date that has not been clearly defined.

The side effects from the ACTH were severe for Savanna.  Hypertension was extreme as well as the symptoms of Cushing’s Syndrome.  Her regression was so severe it required G-Tube placement after a bought with double pneumonia related to aspiration.

The G-tube placement was a great elective decision regarding her care.  During this time, we started physical and occupational therapy. She was quite inactive, at this time, and more or less did not participate.

The one thing I learned from these appointments is that Savanna was hypersensitive to vestibular stimulation (although at the time, I thought she just really liked to swing….) We still have a platform swing that uses A LOT everyday.

8 Months

We decided to move in May 2012 closer to family as her situation unfolded. We selected Houston, Texas, as our new home.

We moved in to a new house June 11, 2012.

August 16, 2012 (during a trip back to California) the honeymoon period ended.  Savanna began a 3 month period of medically refractory complex partial seizures.

Numerous drug trials failed including Phenobarbital, Keppra, Onfi, and Ativan.

The Ketogenic diet at 4:1 did not provide control.

I administered Ativan and Diazepam (Diastat) regularly during this time.

A MEG along with multiple 23 hour VEEG studies, at Children’s Memorial Hermann Hospital under the care of Dr. Gretchen Von Allmen were very compelling for surgical consideration.  Additional MRI’s added little to the decision matrix as they appeared more or less normal.

13 Months.  The first resection.

Savanna’s first resection was October 24th, 2012, performed by Dr Nitin Tandon at Children’s Memorial Hermann Hospital at the Texas Medical Center.  Savanna was very small at only 9 kg.  And to say she was not 100% healthy prior to surgery, was the understatement of the year.  All prophylactic measures went into her care leading up to surgery.

During surgery, Electrocorticography (ECOG) showed very good correlation with diagnostic data.  Complications with anesthesia and significant blood loss ended this procedure with the resection incomplete.

A focal cortical dysplasia lesion was about 80% removed spanning the temporal and occipital lobes of the left hemisphere.

The seizure activity dramatically reduced in frequency and development resumed.

Simply put, “A child we never knew came out the operating room.”

15 months

After experiencing what was nothing short of miraculous, a slow wean off the long list of medications began and discontinuation of the Keto diet resulted from a severe bout of gastroenteritis.

Her development pace increased dramatically during this time.

We expected another surgery in the future and the pathology report of the resected tissue indicated Focal Cortical Dysplasia Type 1 widespread and Type 2a isolated to one section of tissue. This is a somewhat ominous finding.

17 Months

Her reaction to the drugs was completely different than before. She couldn’t sleep, and that meant neither could we. From afar, the doctors would be frustrated, …”just get through it….” is probably what they think. But this is our personal nightmare, not theirs, so it is easy to say.

Savanna could not sleep on Onfi after the resection. The last night of the last dose, only 2.5 mg resulted in a sleep patter of every other hour awake. The very next night without Onfi, she slept through the night. It was unbelievable.

The last week of the wean from Sabril saw a turning point as the seizures became more severe.  A small increase in the Sabril, adding on Trileptal, and adding back a little Onfi helped the situation.  She was teething during this time, and I do think this pain triggered a lot of activity.

Her development seemed to slowed added all the medicines back on, but still continued.

18 Months

A second resection on April 1, 2013 by the same medical team, completed the original plan of a multilobar resection.  The left temporal and occipital lobes along with the parietal lobe posterior of the motor strip.  This time, pathology revealed FCD Type 1 and 2a, but the margins of the samples indicated Type 1 only.  So, the surgery removed the primary lesion and seizure focus entirely.  Type 1 dysplasia present everywhere is troubling.

What the future holds for Savanna is unclear.  She has been given a 80% chance at seizure freedom.

Unfortunately she suffered with stridor in recovery which added misery to all involved, a horrible, unthinkable stay in the PICU with doctors and nurses that really don’t understand the patient or the family. The PICU was supposed to be a quick stepping stone in the process, but it turned into to be something I wish on no parent in our shoes.

Savanna was extremely unhappy for 88 days following surgery, and nothing helped her. To the point, that I was starting to accept that we as parents had made a terribly wrong decision regarding her care, that we should not have done the second surgery.  I remember being mad at God for letting me make what appeared to be such a bad decision. Little did I know.

24 Months

Wow, what a difference a few months can make.

Her developmental pace increased significantly.  The gross motor skill advances were the most noticeable.

We shed the AFO orthoses, for SMO’s braces. She walks around at will by now.

Climbing, stairs, and balance are still real obstacles.  The underlying hypotonia hampers proper muscle grading.  But, her ability to move around on her own without thinking as much about it, has allowed her to focus more on the cognitive activities we present, such as container play, shape sorting, etc.

Her fine motor skills on her right side are definitely weaker than her left, but you wouldn’t notice it unless I pointed it out specifically with her mannerisms while eating or at play.

Her visual field cut is becoming more clear to me as her everyday caregiver, but again, to someone who doesn’t see her often you probably wouldn’t notice.  She runs into things sometimes very unexpectedly, and this happens more so in unfamiliar environments.  Glasses are in her near future too to help with what vision she has left.

This child is simply amazing.  She teaches us everyday how great God is, whether you listen or not.  I have chosen to listen, and feel strongly this is why our situation is unfolding in this fashion.

28 months

Her behavior is really troubling at this point. I struggle daily with trying to just keep up with her. Our “therapy” sessions are really, really simple. We still use 0-6 month toys. She can’t color, or even hold a crayon.

She has no interest in most any toy. Except to be able to dump it on the floor. Everything on the any raised flat surface MUST be pushed, dumped, thrown the the floor.

As a stay-at-home-dad, I am at my wits end, dealing with 3 kids plus Savanna. At a clinic visit with Dr V, I asked about Autism. She felt Savanna was not on the spectrum, but did refer me to another doctor who specializes in this area.

Sure enough, after a 2 hour evaluation, she is diagnosed with ASD, on the severe end of the spectrum.

This changed everything. Every therapy she was now eligible for an unlimited amount, versus next to nothing without the ASD diagnosis code.

She was eligible for facility-based ABA therapy, which was initially prescribed at 25-30 hours per week. This is intensive 1:1 therapy where unwanted behaviors are reduced by rewarding wanted behaviors, all in the context of learning functional skills aligned with typical development appropriate for her level of ability.

We found a location, restructured our lives, and the said facility has dropped the ball terribly with predicting enrollment absorption.

35 months

Realizing that our ABA facility of choice had really dropped the ball, I enrolled Savanna in another facility, much further away. This meant driving nearly 30 hours a week moving kids from here to there and back. Not ideal.

38 months

Wow. What a difference. All those miles are worth it.

Savanna started ABA with essentially no words and about 5 signs.

Today, just a few months later, she has about 20-30 words, is putting together 2-3 word phrases unprompted, and does not use any signs. Just amazing.

Her behavior can still be quite challenging. The differences between her and other typical 3 year-old kids is more noticeable. We struggle on the weekends, as she doesn’t have 1:1 care on the weekends in our house.

But, her overall general compliance, especially when you learn how to really work the antecedents of action, life is pretty good. A good example of this is providing a choice unnecessary for a typical child. “Do you want you blue or pink jacket before we get in the truck to go on a ride?” versus, “Please get in the truck, it is time to go. Put one of your jackets on please.” These two approaches draw an unbelievable different reaction from Savanna, and would not phase our other kids at all.

If I didn’t share her struggles, you might not know she went through them if we met on a playground. She is very well adjusted. and near appropriate developmental levels in all areas. Speech is the most delayed.

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Commentary,

There are really no words that can explain to people not directly involved what it is like parenting a special needs child in this situation.  With this blog, we try to eloquently depict the good, bad, and the ugly of navigating the tumultuous waters of this catastrophic childhood epilepsy burden put on Savanna and us as a family.  The related challenges she has faced have been immense.  While somewhat therapeutic to compose, we hope that it helps someone blindsided with the diagnosis.  We encourage Savanna’s care providers and doctors to read her story as it may help them too understanding what it is like for the family.  I cannot always find the right words or analogies to portray the emotions involved, but it is medically accurate to the best of my ability.

There are parents out there dealing with immeasurably more difficult diagnoses and resultant situations with little or no hope of a therapeutic procedure such as Savanna has available to her.  Each day we thank God for our blessings.  The relief provided by epilepsy surgery is a blessing as is God choosing us to help Savanna in this world as parents.  The epilepsy procedure is nothing short of miraculous and has changed Savanna’s life dramatically.

Thank you for your interest in Savanna’s Journey and I hope you found some help and/or hope in her story,

Ken Lininger