Luna’s Story: Update #2 – Never. Give. Up.

A 6-minute video.

How can a 6-minute video video catalyze so much activity?

1:30 into the video I see one process happening in Luna’s brain; the happiness in her eyes melts away while fear and terror are evident as her brain struggles to stop a raging electrical storm.

After a 75 sec complex partial seizure,  a separate process is evident: Infantile Spasms which clusters for several minutes.

It is a remarkable video, one that captured her seizure disorder at a very early stage, and before almost all mediation.  I am not sure I would have been so insistent Maria continue to seek second opinions after the Norwegian healthcare system more or less gave up on Luna.

If you are unfamiliar with Luna’s story, here is the first post from November 2014.  I want to share some of the highlights of her journey in this post.

Nearly 6 months after the onset of Luna’s epilepsy, she received her first 24 hour VEEG.  Prior to this, it was only short EEG’s without synchronous video.  By this time, courses of steroid and hormone therapy (synthetic ACTH) were tried with some effectiveness, but almost immediate relapse upon completion. Luna was on several conventional anticonvulsants and Sabril.

If they captured the overnight VEEG data before all this intervention, what might be different?  Difficult to say, but very interesting to the point of heartbreaking to consider.

MRI impressions were normal and did not correlate with the clinical presentation.

Finally, negative targeted genetic and metabolic testing rendered Luna’s case more or less closed in Norway: etiology unknown.

Take the pills, accept her as she is.  She will be disabled, was Maria’s translation of what she was told.

Luna 11-6-2014

I advised her: Do Not Give Up!  I always felt there was hope for Luna.

Why?

Impressions from early EEG tracings found epileptiform discharge activity in both hemispheres, but more in the left hemisphere, and very close to the midline of the brain and almost always with overweight and pre-dominance in the left hemisphere.  Often there was bilateral slowing.  The slowing was frequently found to a greater extent in the left hemisphere.

To me, the remarkable video was a sign that all the generalized activity could be irrelevant if there was a focus discovered.  This theory is difficult to prove given the focal events ceased after the steroid therapy.

An analogy:  Imagine if you were spraying water mist or hair spray on your child’s head.  And you were standing on their left side spraying towards the head around ear level.  As you spray, you move the spray nozzle around, and as you get near the top of their head some of the spray easily falls on the other side of their head.  At first, it would be clear that some of the spray from the left side fell on the right side.  But if you just never stopped spraying, after a while it is impossible to determine if you sprayed some from the right and some from the left independently, especially if you were brushing the hair during this time.

Maria began looking outside of Norway for help.

Helsinki, Finland has a well-known comprehensive epilepsy treatment facility.  Maria engaged the doctors there as did I. Uninterested, they referred her somewhere else in Sweden that was not a good fit for Luna.

2014 began with a trip to Bonn, Germany.  The financial cost was high.  But, the emotional toll was higher, as once again negative MRI findings ended the investigation despite the presence of a focus in the left hemisphere found in a long-term VEEG.

Dr. Sassen reviewed the early videos and agreed about the focal nature of the episode in the one very remarkable video.  Why then did he not recommend more diagnostics?

Luna was weaning steroid therapy during this time and was experiencing seizure control; so no seizures were captured during the VEEG.  This lack of clinical seizures was likely to key reason additional diagnostics were not performed.

I remember the defeat in Maria’s words in emails, the misery, and emotional turmoil in the family.  Chronic seizure disorders in young children are well-known for disintegrating the family unit.  During this period Maria realized she had a marriage built on sand not rock.

By the summer of 2014, Maria was in contact with Dr. Von Allmen and Children’s Memorial Hermann Hospital here in Houston.  In parallel, Dr. Simon Harvey from the Royal Children’s Hospital Melbourne, Australia, also reviewed her case.

Dr. Harvey insisted she get a PET scan.  In a matter of days, Dr Harvey in Melbourne Australia ordered a PET scan for a child from Norway to be performed at St. Thomas hospital in London, England.  You can’t make this up!

The results indicated she should be a good candidate for surgical intervention. Finally, I felt like she broke through an invisible barrier in getting help for Luna.

Where can Luna receive such surgical care?

It wasn’t long before the USA became the only real option and Children’s Memorial Hermann Hospital was the natural selection.

They quoted $125,000.00 for investigation and surgery, far more than anywhere else.  But, Luna could get quick access to care here and could not elsewhere.

Maria created a fundraising page through one of the internet-based fundraising sites.  The response to Maria’s call for help was dramatic and surprising.  God’s plan indeed.

Like every step along Luna’s path, accessing pledged monies wasn’t without significant challenge.  Global political tension between the US and Russia made transferring Russian monies difficult with credit cards and wire transfers – the kind of transactions needed in this situation to quickly fund the planned events.  Her friends came through with great success!

We don’t know all the donors, but whoever you are, you played a vital role in changed lives.  Thank you for your kindness and generosity.  Not only did you help change Luna’s life, but you illuminated a potential path for others like Luna.

A pause.

Maria didn’t have the necessary funds CMHH demanded.  And, yes, ‘demand’ is the correct word.  Global political tensions and resulting monetary policy restrictions delayed the transfer of some pledged funds.

What to do?  Make the trip, or wait until she secured the funds?

I remember telling her “Just get here.  And, we will figure out the rest.”  This was our moment we have been waiting so long to happen.

Despite many setbacks, roadblocks, and barriers, Maria and Luna made it to Houston.

Austin-Savanna Third Birthday-17

After evaluation and consultation with Dr. Tandon , the chosen path at that time was a TPO resection/disconnection.  The hope was that remaining cortex was not implicit in the epilepsy.

A hemispherectomy was discussed as the likely procedure to provide the most control, but also with the most consequence.

Luna-3 Luna-2 2nd pedi epilepsy reunion-11

The procedure had a remarkable positive effect on Luna, but unfortunately it was clear she needed more help as her epilepsy continued uncontrolled.

Devastated, Maria returned to Norway with Luna to collect her emotions.  Here was a post I made just before she departed.

Emotionally knocked down, she stood back up.

Maria reorganized her life and relocated to Houston seeking further care for Luna.  She secured a job such that the company paid for the transfer.  She leased a house, and a car.  And began engaging in all the things that go along with living in the US.

[This person, this Mom, Maria, has a wealth of courage and love in her heart.  She used to get tired and say “I have no forces left”.  I always chuckled at her word choices, but she did have forces left.  She is human yes, but has superhuman ‘forces’ in my book.  As I reflect on all she conquered to get real help for Luna, our journey with Savanna pales in comparison.]

Luna diagnostics second round CMHH 2015

American medical insurance in place, a new round of surgical evaluation was initiated.  The results were confounding.  Discharges still in the [connected] left and right hemispheres.  Dr. Von Allmen recommended a larger resection, likely including some motor cortex.

Dr. Tandon wasn’t confident that would help but was willing (as I understand it).  He recommended a palliative procedure with the intent being to slowing down the epilepsy progression and perhaps illuminating the focus more clearly, without serious consequences.

The discussion devolved to a point where Maria was left with less than ideal confidence in the plan of care.  Dr. Von Allmen, frustrated, referred Luna to another pediatric facility.

Luna’s case I guarantee while perhaps not one-of-a-kind, is extremely unusual in presentation and overall path of care.

Using the MEG study from Houston, the team in Austin (Dr. Clarke and Dr. Lee) went to work.  They performed another 24hr VEEG and installed several depth electrodes.

The Austin team ultimately followed a similar path suggested by the epileptologist in Houston, which was a larger resection.

Prior to the surgery, I heard discussion about the ‘incomplete’ or ‘not optimal’ nature of Luna’s first surgery.  Parts left connected that ‘were missed’ according to accounts of discussion between the Austin team and Maria.  I struggled with the motives of this discussion.

These statements sounded like conjecture, a moment to elevate one’s self without any responsibility. That would soon change once they too operated on Luna.

I think in general Maria felt discussion with the surgeon in Austin was what she needed most.  I was not present, but the account of the conversation sounded very positive and reassuring.  It sounded extremely specific in what was ‘done incompletely’ previously, his plan to ‘fix it’, and a near guarantee Luna would be ‘seizure free without motor skill loses’.  Who wouldn’t want that in this little world, right?

[Luna’s case unfolded such that it appears Dr. Tandon was likely correct in his assessment during the second surgical consultation here in Houston.]

On August 14, 2015, Dr. Lee per his language, ‘completed the TPO disconnection’ in Austin, Texas at Dell Children’s Hospital.  Luna is such a strong little girl!

Luna Second surgery

Unfortunately, Luna seizures started again very soon after this surgery.  And Luna experienced severe hemiparesis, even 4 months post-op.

A corpus callosotomy (the palliative procedure rejected in Houston) and a VNS was implanted for an extra measure of control during a third surgery shortly after the second one.

After the corpus callosotomy, the seizure presentation was remarkably focal in nature. Only right arm and leg involvement during the events.

This was a big and positive change!  And it indicated, the right arm and leg were still connected to the motor cortex to some degree.

[Why the palliative procedure?  After all the diagnostics in Norway, Houston and Austin, no one could say for sure that the discharge activity onset was only in the left hemisphere.  This procedure could positively determine this with minimal deficits.  This procedure can stop or slow the progression of the epilepsy by closing the pathway between the hemispheres.  This procedure won’t stop seizures, but it can stop focal seizures from generalizing.]

The fourth round of evaluation revealed what we all prayed for all this time:  All discharge activity was localized in the left hemisphere!

Amazing!

Now, it appears complete hemispherectomy is Luna’s best option.

January 29th, 2016 Luna underwent total left hemispherectomy, during her fourth surgery.  This radical surgery enrolls Luna into a very small sorority of patients worldwide.

Luna Feb 2016-8985

[Epilepsy surgery timing is a research field all its own.  The mantra is ‘the sooner the better’.  But a misstep can lead to unintended disastrous consequences.]

What does this mean for Luna – a hemispherectomy?  No one really knows.

When you study the situation, the outcome is a spectrum, with underlying etiology being a big factor.  Therapy methods and theories are evolving as well.

Medical science can’t tell us why Luna’s left hemisphere produced epilepsy.  In this light, Luna, and others, are ahead of science to some degree.

 

Luna stroller february 2016

For sure, it means Luna will function with half a brain, unlike you and me.

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It also means Luna now can achieve her best ultimate outcome with the greatest chance at living seizure free and possibly medication free.

After 13 months here in the US, Maria is starting a new life.  She remarried and is moving to Dubai, UAE with her new husband Roman and plans a return to Norway.

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Luna Feb 2016-9057

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Romans 8:31  “What, then, shall we say in response to these things?  If God is for us, who can be against us?”

I cannot lie, I found this time of Maria and Luna’s departure quite emotional.  Watching that remarkable video brings me to moment of profound clarity.  Where would Luna be today had I or someone else not responded to Maria’s call for help in the summer of 2013?

Thank you Lord for leading me into this family’s life.  Thank You Lord for inspiring Maria to post the videos of Luna when she did.  Without Your guidance and leadership, all of this would not have happened.

All of this from,

…a 6-minute video.

-Luna’s friend

Luna’s Story: An Update

The meeting with the neurosurgeon prior to the surgery described the treatment scenarios on a scale of least invasive to most invasive, along with a likelihood of success in Luna’s specific case. The chosen path was not the most invasive, leaving a portion of her left hemisphere connected and functioning with the hopes it is not involved in seizure onset. This decision was based on experience and the best medical science available today. It was not a mathematical formula with a guaranteed outcome, but rather a first step. One that if successful, leaves her the most natural motor function possible. If you didn’t read her initial story, you can find it here.

On November 6, Luna underwent what is called a TPO resection/disconnection in her left hemisphere. A known consequence is significant visual field cut in both eyes on the right side, a dense right sided hemianopsia. The actual procedure went very well and Luna recovered quickly. Here is a picture of good news from the waiting that day (Savanna was not particularly photogenic this day!)

 

surgery day luna

 

Luna like most in this immediate time following surgery, is quite unhappy often.  She doesn’t understand what happened to her or why. Her head itches, and probably hurts, but she can’t tell us in a way we immediately understand. She cries, and we do what all parents do, we just try to make it better any way possible. Her behavior and demeanor reminds me so much of Savanna during these days. I wish the pertinent doctors could be more aware of what this is like. When you try to speak with them about this, they really just don’t seem to care or have anything to help in the way of guidance, wisdom, or advice. I have come to realize they just don’t really know how hard it can be; how exhausting; how stressful. It is not to a fault in any way, it is just reality. You just can’t know unless you live through it personally.

Maria is returning to Norway completely emotionally drained, mentally exhausted, and physically hurting from holding and carrying Luna far more than you would ever carry or hold a normal 19 month-old.

The thought of being on a couple of airplanes for nearly 18 hours is just daunting to me, but she is determined.

So how is Luna?

 

luna after surgery

 

luna after surgery-2

 

The incision site looks great. She healing physically very well. She is not experiencing any complications.

Luna is much more calm overall. She is more focused and engaged with her environment.

She is changing rapidly during this time of recovery.

Some noticeable suspect activity has been seen. Luna needs more time to heal before officially ruling on this suspect activity, and a chance still exists that this activity will dissipate on its own.

She has some sensory processing issues she needs to work through, a process very difficult with the constant disturbance in her brain. Now she has a real chance to overcome these challenges, and in the short two weeks post-op we are already seeing these changes.

Luna has to tell us what she needs, metaphorically speaking.

 

luna after surgery-3

 

Prior to the surgery, I worked and worked with Luna to stand and take steps. The hypotonia in her feet and legs is significant. She stands but with locked legs, and muscle grading is poor – much like our Savanna experienced. After surgery, she is so much more focused and able to “think” about something such as walking. Here is a short video that is just amazing. I could not have done this with her a couple of weeks ago, without more or less carrying her through the process. She would have tried to turn left circles the entire time and cried while doing it, or as Maria calls it ‘protesting’. Now, she is very motivated.

 

 

What do you feel as a parent in this situation? What do you do next?

Well, first, you have to learn to wait. This is harder than it sounds, because the academic body of evidence is growing to act sooner rather than later with pediatric cases.

As a parent, your world hinges on the surgical success, something that can take some time to appropriately cast judgement.

You research others’ stories with an obsessive compulsion that can render you insane. With red eyes, you seek out that other child who looks just like yours; has seizures just like yours. What was their treatment path and outcome? How can I interpolate and extrapolate their path into mine? You fixate on their story, for better or for worse. But this is what we do as a parent of a child with intractable epilepsy in this ‘Google-centric’ world.

While not entirely healthy, you come up for air once in a while and find scholarly articles to educate yourself in an objective manner. Then you remember discussions with the pertinent doctors, the ones you put so much trust into already, and let their guidance help show the way. You go back and re-read diagnostic findings, again to help educate yourself.

You second guess every decision made in your child’s care. You realize that you cannot go back and relive anything, try anything differently, act differently or more quickly. This time has passed and all you have is the future, on a new path post-op.

To use a very American analogy… At this juncture, as a parent, you have left the college sports ranks and joined the professional athletes. When you run through the tunnel onto the pro playing field/court, the same game is very different. And as a pro, success means embracing this change. You have to expand your mind. You must adapt to a larger set of variables, more potential consequences, and then re-calibrate your mind with regard to what “success” really means. Going back to the college days, is no longer an option.

On top of all this brow-beating and compulsive ‘googling’, Maria has secured a work position here in Houston for the next couple of years and sold her beloved house in Norway. She returns to Norway today to finalize her move to the USA for employment and spend much needed time with her other daughter. We will get to see her again in the future and look forward to seeing Luna’s progress.

IS Awareness Week: Luna’s Story

Here in Houston, an 18 month old girl from Norway named Luna awaits surgical intervention to control her epilepsy. Her mom knowing full well this is Luna’s only chance to get real help. She has experienced more than a year of uncontrolled seizures, with only a few brief periods of control on steroid therapy. She is suffering from Infantile Spasms, a very catastrophic form of childhood epilepsy.

Luna 11-6-2014

About a year ago, I came across a post in a FB support group from a desperate mom looking for help. She posted videos, and asked for assistance and advice about interpreting the video and what she should do. Already at this early stage, she was questioning the Norwegian doctor and plan of care. I reviewed the spine-tingling video, and saw right away a likely cluster of IS, and a second process that seemed very asymmetric in clinical presentation. She was so similar to our Savanna, but yet so different.

She explained the treatment plans in place from her neurologist. She translated documents for review. I advised her how cases like hers are handled here in the USA at a facility familiar with IS, the kind of tests usually ordered and why, and why it is so important to move quickly and accurately with the workup.

As the workflow progressed in her treatment, at a small hospital in Oslo, I remember experiencing a sinking feeling after her clinic appointments with her neurologist. It just didn’t sound like their doctors saw the situation as an emergency, nor did they have the resources to appropriately evaluate Luna or treat her such that she would have the best chance at seizure control.

Two things I learned over the past few years dealing with IS/childhood epilepsy: 1) Time is Critical, and 2) Workflow (the process) is Important – especially when the cause is idiopathic or cryptogenic. This is not to say a symptomatic case should not be treated similarly. Etiology can play a significant role in therapy choices or schedules.

It became clear after about 6 months, Luna simply wasn’t going to get the best chance at seizure control in Norway. We talked frequently and the idea of traveling away from Norway for help was born.

I kept having to remind myself, that Luna is in a socialized healthcare system, and this can be the way it is in these extreme cases in such a government-controlled healthcare system.  While Norway does have a more appropriate hospital for Luna, it was the access to the services that seemed draconian after seeing what is possible in other countries, especially the USA. For those that have lived through the nightmare of IS, can you imaging having to wait for nearly 6 months to get your first 24 hour EEG with video? Me either. Until that point Luna only underwent only 15 minute EEG diagnostics, without video.

High dose steroids were the only therapy that had a positive affect; producing brief seizure free periods. Several other drug trials failed to control Luna’s epilepsy and also resulted in marked negative side-effects.

Even a trip to Bonn, Germany, resulted in a “come back in six months” outcome, after diagnostics produced results insufficient to justify additional diagnostics. Here in the USA, those same results most certainly would have justified an additional scan or two. I remember being so let down by the results of that trip, beside myself at how different other countries view IS.

Finally, 10 months after her journey began, she was able to get an FDG-PET scan, (her first one!), only after a epileptologist in Australia called in the order to a facility in London. Another expensive “self-pay” excursion to another country, much like their visit to Bonn.

Luna

By that time she had also contacted our doctor here in Houston, and had arranged a consultation date.

Access to surgical services looked viable in EU and in AU. And the doctor in Melbourne seemed confident about what Luna needed. Suddenly, the outlook looked good. Timing became an issue in the EU as surgery was many months away, and access to socialized services in AU seemed out of reach after some effort.

Two months later, she arrives here in the USA, after having raised nearly all the necessary funds to cover the cost of a “self-pay” surgical workup and epilepsy surgery.

Austin-Savanna Third Birthday-17

A streamlined plan consisted of a week of diagnostics followed by a week of information review, then surgery the following week. Celebration!

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Luna-3

2nd pedi epilepsy reunion-11

Then suddenly a question during the VEEG/LTM: Has she been tested for CDKL5 mutations? In that one second, the entire plan appeared jeopardized. A thorough review of  records produced no test results. Calls to the Neurologist in Norway produced no immediate answers. Surgery now on hold, a comprehensive targeted genetic panel was initiated. It took three weeks to get results, during which time the Norwegian Neurologist finally confirmed she was tested for a host of genes in question, and was negative.  Exhale!

So we have a new schedule for a surgical date. All is a go, again!

Then the unthinkable: she gets sick. A common cold, that of course produces the cruddy cough, and the sound of doom: congestion. Then it produced ear infections, which was icing on the cake.

How she made it nearly 5 weeks in our house without getting sick is beyond me. We are performing every possible prophylactic measure to get her healthy as the battle with Anesthia continues. Yes, battle is the correct terminology. The procedure Luna is going to undergo requires several players on the team. One is the Anesthesiologist. They really don’t care at all why she is there or the reason for the procedure. It is so frustrating when a doctor who’s only involvement in her care is that day’s events can derail concrete plans, for a clear runny nose.

There are two types of people in this world: 1) Those who say Yes, I can help! and 2) Those who just say No.

It takes work to say YES or be positive. It requires assuming more risk. It often requires making difficult decisions and sacrifices. It is a conscious choice to say yes and be positive.

It takes zero effort to say NO and be pessimistic. It requires assuming no risk. It requires no further decisions or sacrifices. It is easy to say No and be negative.

In this case….. It’s an over the phone diagnosis: your surgery is cancelled, and I really don’t care what you think. Call you neurosurgeon’s office and reschedule two weeks after her last sneeze. Just the Friday afternoon call a neurosurgeon enjoys about a Monday procedure.

This position minimizes the risk assumed by you and by the institution. Which is interesting because the other doctors and the institution have agreed to allow the neurosurgeon latitude to operate – which may not work – and yet still leave her with permanent deficits. But, wait! Patient Safety!

When in doubt, pull this one out: It’s All About Patient Safety! Sorry, but no surgery. This is like liberals using the race card in a debate when the know they have lost on the facts. It is infuriating and in this case quite insulting. Right, it is much safer to continue to suffer a catastrophic seizure disorder than the potential of a sore throat after surgery. Right. Any parent of a child like Luna arriving at this moment sees right through this argument. Enough said.

We have finally reached The Big Day. An emotional blender full of tears, anguish, and hope. All the sacrifice. All to arrive at this moment in time where you kiss you child goodbye, not 100% sure what is going to happen. May God keep our children safe and guide the hands helping Luna today.

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Today is Luna’s last day to suffer from IS.

You can follow her journey on FB here.

Humble Beginnings, with video

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?”

Twins Feet

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.

Guest Post – Mixed Up Mommy

Infantile Spasms are not diagnosed early in many cases due to a lack of knowledge, even by physicians.  I am not putting any blame on physicians, but the fact is that this is so rare, most practicing pediatricians simply won’t even see a case in their career.  Parents are almost always blindsided by such a diagnosis.  In some cases, a family has warning of a symptomatic onset of this epilepsy.  All scientific evidence indicates early diagnosis and aggressive treatment gives the patient the best chance at the not only stopping the seizures, but the best developmental outcome as well.

The only thing I have obsessed over more than my son’s tuberous sclerosis complex diagnosis was the possible onset of infantile spasms. Since we had Connor’s diagnosis shortly after birth, we were in an uncommon position of knowing to be on the lookout for this rare and catastrophic seizure type. We were fortunate about that, though it certainly didn’t feel that way at the time.

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Connor was born with TSC, a genetic disorder that causes benign tumors to grow on the organs. The tumors can wreak havoc with the functioning of the organs. He was born with several brain growths called tubers that caused him to have complex-partial seizures from the time he was a few hours old. He spent five weeks in the NICU as his seizures proved difficult to control with medication. We thought he would undergo brain surgery in his first month of life. One (of many) 48-hour EEG recorded 82 seizures, the majority of which were subclinical (not visible to the eye). Eventually they decreased enough that doctors felt he could go home — on a cocktail of three seizure medications — and return for surgery when he was bigger and it was safer. He underwent a resection of the right frontal lobe at four months and we entered a new seizure-free life.

For a month.

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Then it happened. The moment I had lain awake dreading, watched countless YouTube videos in preparation for and prayed a whole lot not to happen(for someone who has never been particularly religious). That jackknife movement, arms flying up, knees up ever so slightly — the spasms were here.

Infantile spasms occur at a far higher rate in the TSC population than in the regular population. I believe the statistics said that 40 percent of children with TSC are estimated to develop this complication. I was so sure we could be part of the 60 percent. This wasn’t based on any sort of logic, just grasping at straws of hope.

I knew what I was seeing immediately. I had feared this moment for so long that the shock of it brought on a panic attack. I became dizzy and had to back into the chair in his room. My husband asked me if I was sure. I was, but I still — grasping at those desperate straws — said that maybe, just maybe I was wrong. Let’s wait and see if it happens again.

I took Connor into our room and we both fell asleep, him drained from the seizures, me from the panic attack. We awoke a couple hours later and went to the kitchen. I laid him on his playmat and sat down to eat. He was hanging out peacefully when it happened again. And again. And again. No more time for denial. I got on the phone to his neurologist. We already knew what the plan was.

I should mention that when I worry about stuff, I like to get really detail oriented. So one of the things I had obsessed over was that the spasms would start on a weekend when his doctor would be unavailable. But it was only a little after noon on a Friday. Thank goodness.

The office message began to play. Oh. My. God. They close at noon on Fridays. How had I forgotten that? Would I have to go to the ER? Wait, I could page him, the message told me. Relief washed over me.

The partner of my son’s primary neurologist called us back. He’s great too, and he was actually the one that originally diagnosed him. Ironically, Connor had an office EEG earlier that week as a follow up to the surgery. He didn’t sound optimistic when I describe what I saw, but he told me he would take a look at Connor’s EEG which hadn’t been read yet. When he called me back, I heard the dreaded word — hipsarrythmia, the chaotic brainwave pattern associated with infantile spasms (I want to note that many TSC parents report that their child presented with infantile spasms, but no hips on the EEG. So if you see something suspicious but the EEG is clear, push the issue!)

The hips was there before the spasms started. Well, at least the definite spasms. There were a couple strange movements he had done in the couple weeks prior that didn’t repeat and weren’t so obvious, that I now questioned.

An emergency prescription for Klonopin was called in to get us through the next couple days until we could get him started on vigabatrin. Vigabatrin/Sabril is the front line recommendation for TSC and is only available through mail order specialty pharmacies. ACTH has been effective for some, but at lower rates than in others with infantile spasms. The spasms stopped within a couple of weeks, though he persisted to have some strange eye rolling episodes that never showed up on EEG and were never defined.

Connor was already pretty delayed, but we were lucky that we saw no regression. He was subdued and giggled less, but the day after we saw the last spasm, he woke us early shrieking and laughing happily.

For many kids, spasms are the first sign of a problem so they go undiagnosed or misdiagnosed due to how rare they are. As much as my obsessing drained me, it likely allowed us a better outcome. We didn’t have to wait for a diagnosis — we had it within hours and were able to start treating it immediately. Many aren’t so lucky and the spasms cause irreversible damage as parents struggle to find out what is wrong with their child.

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I wish I could say Connor was seizure free, but unfortunately his complex partials have returned. In spite of that, we have seen an incredible amount of progress in the last few months. His first 14 months were extremely slow progress. But just since June he has started crawling, pulling to stand, cruising and climbing the stairs. He’s happy, opinionated and in love with Click Clack Moo and Super Why.

The blog, Mixed up Mommy, is a wonderful and inspirational blog about all things TSC and life in general.

Here is a YouTube video of his spasms which I have uploaded in the hopes of helping other parents identify them quickly.

Guest Post – Living With Superman

This is our story about Living with Superman.

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Superman is unable to leap tall buildings in a single bound, he does not fly faster than an airplane and he is not faster than a speeding bullet. He is SO much more impressive than that.

Superman was born at 27 weeks due to high blood pressure causing a placental abruption and preterm labor. He was only 1lb 10oz when born. I can think of a million things I could have done differently. I can think of a million moments that might have changed the outcome. But I will never know for sure. What I do know is that since the moment that little tiny boy, who could only be measured in grams, came into this world; he hasn’t stopped fighting. And, that to me is way more impressive than the comic book hero. I live with a true life hero and my heart beats with joy.

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Superman had lost his oxygen supply during the birth and was born not breathing (hypoxic ischemia encepholopathy – or HIE) and in the first 24 hours on the ventilator that was sustaining his life and allowing him to fight, he began to bleed in his brain from the lack of oxygen and then the reintroduction of oxygen. Very similar to a stroke but on a much larger scale. They call this a Intraventricular Hemmorage (IVH). This left him with a condition called Diabetes Insipidus (DI) from a portion that was damaged and now he takes medication daily for it and will continue to do so for the rest of his life. While considered a “rare disease” by the NIH – I have met many people online that have this condition from birth or by accident or because of a brain tumor. And while it is not the easiest of conditions to live with because it is VERY finicky, it is manageable. Just requires A LOT of blood work. Some days I think people that do blood for diabetes mellitus (the sugar kind) have it easy! Blood draws for us are vials not pricks.

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Any brain bleed has the chance to cause delays in development and other areas, however Superman now has hypotonic Cerebral Palsy. They told us he would probably not open his eyes, move, sit, eat or anything.

In addition to all the rest, after a period of seizures in the NICU that resolved themselves, Superman now deals with a type of epilepsy called Infantile Spasms. This is a very devastating type of seizure as it basically shuts down the brain and affects development. Most children that have IS will experience an instant delay in development as well as often regress in the development they already had.

In April 2012, Superman had to have laser surgery done on both eyes for a condition called Retinopathy of Prematurity (ROP). Left untreated, in many cases it will progress and cause permanent blindness. Due to the mass amounts of oxygen used, it causes the blood vessels in the eye to basically sprout off and create new ones, overloading the retina with blood vessels that have no purpose. Although his eyes were fixed (and are still perfect over a year later) he now has what is called Cortical Vision Impairment or CVI where the brain doesn’t always register what it is seeing. Because of this condition he has been diagnosed as legally blind.

Superman came home from the NICU after 117 days – gtube dependent. Today, 14 months old, he is completely orally fed and we are on our way to mobility.

As of August 6, 2013 Superman is now again with a g-tube. He is showing signs of eating orally still as long as he is alert but is now somewhat dependent upon it to make sure he gets the proper amount of fluids.

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It’s a slow process but as a family we make it together.

Superman has a sister; we call her Diva because, well… she’s a little diva with an addiction to shoes and headbands. She is his #1 supporter. For a girl who didn’t want a brother he is her world. She doesn’t know that Superman is different than other babies; she just knows he is Superman. And that’s how we like it.

Living with Superman is a challenge, it has its ups and downs – but living with Superman has brought us all more love, compassion, knowledge, and gratitude than I thought I could see in a lifetime. I look forward to learning and growing with my little boy on this crazy journey we call life.

[The following is an excerpt from her most recent blog post titled: Blatant Honestly]

But I have not been completely honest with you all.

I can explain the medical diagnoses with precision expected in medical facilities, I can update with day to day happenings with a parent’s expertise but I have never explained the situation with the realities and the gravity of the situation being the focus. Often times I shrug it off, ignore it. Not because I am not aware of it, or I live in some fantasy land where I believe everything is going to be okay. But because I don’t tend to focus on the ‘what if’s’ and the ‘what might be’ and sometimes ‘the what really is’. I know he is non-mobile and non-verbal. Of course, its right in front of me. But most days I don’t see it until I am confronted with the reality of it.

And when I post online, I don’t focus on the negatives. Maybe its because I don’t want to appear weak or overwhelmed. People actually comment on how positive I am since his birth and how they could never do it. As far as the ‘doing it’ part – if you have to you will – the positive part is a choice.

But there is a huge reality that sits in the back of my mind that I haven’t shared with many – if any. Because if I speak it then it’s real. And no parent ever wants their fears to be real. I have two fears in my life that would leave me devastatingly crippled: fear of being homeless, and fear of losing my children. I literally lose sleep at night in fear that my daughter could be kidnapped. Think its crazy? Turn on the news. Check your Facebook page. Missing pictures pop up almost daily. Scares the ever living something outta me.

But the other part of that is losing my son. Now this one is somewhat more rational but yet less rational than the first. Because we were always told he wouldn’t live. He wasn’t supposed to make it through the first week. He wasn’t supposed to make it out of the NICU. Granted he is still here 19 months later. And for that I am grateful beyond words.

But the reality of that situation, the part that sits in my heart, the one that leaves me crying in the bathroom after everyone is asleep (yes, that’s where my tears live – not on Facebook) the ones that have me crying in my car after another long doctor’s appointment – is that at any moment my son could be gone. Of course that is true for all of us, but statistically its less likely to happen to you or me. Superman is missing 45% of his brain. A large portion that reminds his body to work. My biggest fear is I am going to turn around to kiss him or pick him up and he will just be gone. With no warning, nothing. Just gone. And sadly, its not crazy – and its not out of the realm of possibilities. I don’t post these things publicly because I don’t want to post sob stories. We don’t really have any. This is just the reality for us. Its a daily awareness, something we live with every moment of everyday. There is no dramatic illness, no traumatic incident. Just reality. He could be here one minute and gone the next.

I am sharing all of this because I want to be blatantly honest with you all of what really goes on here with us.

What would you do if you lost your child and you knew you hadn’t done everything you could to try to prevent it?

That is also a fear that cripples me, but it goes along with the other part. Like everyone else we have lived in this rough economy for the last 4 years, searching for a light in the dark. When my son was born, laying there in that isolette only days old – knowing he had a brain bleed, the only words that kept running though my head were ‘stem cells’. And I was angry. Angry at politics, lobbyist, religion, anyone and everyone that had some weigh in on why or why we shouldn’t pursue stem cells. My irrational mind screamed that there was something out there that could have helped my son. My proposal for that issue in a different post. I don’t want to stray too much tonight. Then months later, I met a group of parents with children like mine that were pursuing the same alternatives I had searched for his whole life. And I found it. I believe it was divine intervention. Right place, right time. And since then the right pieces of the puzzle have fallen into place. This treatment can not only help his brain to function but repair damaged parts. While I am not naive, I know it won’t grow back what is gone, but it can help what’s there to start working like the parts that are missing. Its the best chance we have to help him survive. I wish I were just talking about having the chance to walk or talk or play with toys. But I am literally talking aboutsurviving. If those parts could be repaired that make his heart beat erratically, those parts that don’t remember to tell him to breathe because they are focused on fighting his chronic congestion or a minor cold… what if.

I won’t lie, I make my way around the special needs pages on Facebook. Like many other parents, searching for kids like theirs, parents in similar situations. And through these pages I have found many fundraisers. Some are for trips to Disney, some are for Christmas gifts, some are even for Xbox 360s. And they have people falling hand over feet to help them get these wishes for their children.

I am asking you to pray – pray for it to be laid on someone’s heart to help us. Stem cells have been shown to help improve the visual cortex and improve vision. A trip to Disney would do us no good because he can’t see enough to even enjoy Mickey’s ears. Honestly, I would never ask for Christmas gifts, but what is a gift going to make a difference of if he’s not here. And he’s non mobile so he can’t even help Dad play the Xbox – but the controller vibrations seem to get a small response.

Please. Share our story. If you can help and you feel its been laid upon your heart to do so we appreciate your generosity. If you can’t, please share our story with others, we never know who God is speaking to. I have tried my best to raise the money needed by selling things, I am trying to pull things together to make things, but I have come to the conclusion that I just cannot do it all on my own.

I am asking that you pray for my son to get a life saving treatment. I don’t want to just IMPROVE his life, I want toSUSTAIN his life. Give him EVERY chance he can have.

I posted the other day that he grabbed my finger and stuck it in his mouth. I cried – because I could see the possibilities. I said to my husband – just think of how much the stem cells can do with this. And most days I feel as if its slipping away. Since we have stopped the seizures, some minor development is taking place, and I know at this point, time is of the essence. They tell you that the first years of childhood is when the brain develops the most – its even more so for those with brain damage. This is when any rewiring that is going to happen will take place.

So please share, please pray. I am not asking that anyone give until it hurts – that is reserved for God, but if you are called upon to share our story or help us – I am not asking anyone to make our day a little easier with gifts – I am asking you to help change our lives. Change Superman’s life.

Here are the current ways to donate:

http://www.gofundme.com/2yttsw

Local and National branches of Wells Fargo Bank – Account name: Living With Superman

Paypal: livingwithsuperman@satx.rr.com

She has a wonderful blog at www.livingwithsuperman.com

Milestones: Savanna progresses while Daddy falls over the hill…

32 long days since Savanna’s elective multilobar resection.  What can I report?  Well, it has been really difficult, but I think she may have finally turned a corner with all the crying and pain.  And, it probably had more to do with two of four incisor teeth finally breaking through the gum line.  One thing I have learned is that life’s normal challenges for young children are just that much harder for Savanna. Unfortunately, she doesn’t know any other way.  Just before the grandparents left, we were able to get a few good pictures where she wasn’t sleeping and wasn’t crying.

Grandma Lou and Savanna

Grandma Lou and Savanna

Mama Barbara and Savanna

Mama Barbara and Savanna

I have come to realize that these periods are core training for parenting special needs kids.  It is a bit like that darn underwater board in Super Mario Bro’s Wii, (…need some special thumb exercises or something).  It is really difficult, but necessary to master (or at least pass) in order to progress through the game.  With faith in God, living through these periods and not losing your sanity is actually possible.  And, in turn, it helps me see the happy times more clearly and not to be so callus in social situations.  Otherwise, I would probably go bonkers with typical conversation with people around me at any given time.  We did document the good times when they happened and here are some pictures of the kids doing fun kid things.  Tristan and Brandon are two pees in a pod and they do everything together.

Tristan and Brandon being silly at lunch.

Tristan and Brandon being silly at lunch.

Tristan in 'Time Out', Austin thought it was cool and wanted to join in.

Tristan in ‘Time Out’.  Then Austin thought it was cool and wanted to join in.  I couldn’t help but laugh, and that didn’t help the ‘time out’ situation, as Tristan knew what was going on – head down and laughing at me laughing at the them…. lol.

Play time after a bath with twin brother.  Austin and Savanna.
Play time after a bath with twin brother. Austin and Savanna.
Back yard fun with a planter box on a Saturday

Back yard fun with a planter box on a Saturday

Savanna in a moment of happiness, with Mommy.

Savanna in a moment of happiness, with Mommy.

Pre-school and then playing at the splash pad all afternoon is tiring.  This is 6:15 at night, and Brandon falls asleep at the table.

Pre-school and then playing at the splash pad all afternoon is tiring. This is 6:15 at night, and Brandon falls asleep at the table.

Warning: yucky image forthcoming.  One morning Savanna was having a particularly difficult time.  She cried and fussed for about 5 hours straight starting at about 5 am.  At 10 am, I decided to just buckler her into a car seat on the sensory platform swing I built and let her swing.  She was worn out from all the fighting.  She got quiet.  I left her to deal with some laundry.  I was at the putting away stage with about 4 loads, so I grabbed what I could and walked back to put it away.  The smell hit me like a wall.  It was obvious what had happened and who did it.  She wasn’t just quiet but laughing.  I already knew I had a big mess to clean up, but I was still amazed at what I saw when I turned the swing around to see her.  Savanna was happy and laughing and I realized this was worthy of a photo.  It pretty much speaks for itself.

Savanna happy about poop in swing

Savanna happy about poop in swing

As Savanna navigates this unpredictable sea of difficulty, Daddy turned 40 this month.  Yes, I feel older.  No, I can longer just decide to do the P90-X Plyometrics workout at will and expect to make it through even half of the  routine.  No longer can I just decide to go run a few miles, with or without the kids in the stroller.  Yes, I have a lot more grey hair – but no need for ‘Just for Men’ yet.  Yes, I have another hernia in need of surgical repair.  But, there is good news:  I don’t need the little blue pills yet!  The kids and mommy felt it necessary to make a cake and actually put 40 candles on it.  Nice.

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During all of this discomfort, Savanna has made strides in development.  This has a somewhat calming effect for me, as I know this would not be happening if seizure activity was occurring in the manner it was prior to surgery.  Right now, we have to stay focused on that fact.  We have obtained the compression vest to help her with the awareness of herself as she moves around.  It is like a custom wet suit that is adjustable in terms of tightness of fit.  Savanna now has custom AFO’s (ankle-foot orthotic) that helps prevent hyper-extension of her knees when she stands.  She is much more responsive when she sees you in the room and when you call her name.  This is really a feel-good reaction from Savanna that both mommy and daddy needed to see finally after this surgery.  It could not feel better when while not looking at you, you call her name, she turns to locate you, makes eye contact, smiles, and proceeds to crawls toward you and going to tall kneeling with her arms out and up to hold you.  For some reason, I never thought that was actually going to happen with her.    Then comes the inconsolable crying and fussing.  Her movements and behavior when you hold her sometimes is like trying to hold a 25 lb mealworm.  She is just everywhere, every which way, and really low tone at times.

Savanna decked out with a compression vest, AFO's, and a medical walker.

Savanna decked out with a compression vest, AFO’s, and a medical walker.

She is crawling all over the house now.  This is amazing to see, and is causing me to have to put things up off the floor in area’s she never bothered to explore or care about.  She has climbed 2 steps unassisted (…and then… fell backward as I knew she would, so I caught her before she landed on her head.  “Good daddy, good!” as Brandon says.)

She is standing now on her own with the help of furniture – meaning she can transition from sitting to standing on her own.   This is a milestone for sure.  I have attached a video showing her standing on her own.  For me it was breathtaking while also very rewarding.  This particular clip was about 5 am, and I heard her active in her room.  Austin (her twin) was still asleep, so I flipped the light on to capture this sequence.  Because of her visual field cut, I don’t think she saw me until I said something.

Going from laying down to sitting up, to standing up, all have their mechanics of motion.  And those mechanics are broken down in movements or elements.  The training includes correctly positioning the correct limb, at the correct time, with proper weight transfer, etc., etc.  Learning to dance is similar when you really break down the movements.  We have to teach Savanna each element and how to put together the movements to accomplish the overall goal, sitting up, standing up, walking, etc.  It is amazing how normal kids just do it naturally and without any trained guidance.  It is a good outward expression of how Savanna’s brain is different from a normal brain. Learning other skills require a similar approach.

Speaking of normal kids, we have been able to witness some normal twin activity that was never really seen in our house in the past.  It has been great to witness even if it only lasts a minute or two.  Austin sometimes mimics Savanna’s bunny hop crawl, and she gets the biggest charge out of that.  Wish I had some video of one of those moments to share, but it starts and stops very abruptly and I just haven’t been quick enough on the draw to record it yet.  Here are a couple of pictures of a rare during the day bath time for just the twins while the big boys were at school.

Austin, close up...

Austin, close up…

In the tub fun, without the big kids.  A rare moment worthy of a photograph for memory.

In the tub fun, without the big kids. A rare moment worthy of a photograph for memory.

She really likes tilting her head toward the resected side, and actually putting it on toys and such.  She continues to do this a lot and we are not sure how to interpret this activity, especially when she is usually so happy when she does it.  She also is increasingly insistent on banging her head against walls, mirrors, floors, table legs, etc.  She does it repetitively, so she will crawl over to a door with a low glass panel, move to tall kneeling, and just start bumping her head against the window.  It progresses to the point I feel the need to intervene.  I think this may be sensory related, but are not sure.  A protective helmet is on order as she is getting really aggressive with this activity.

Since her second surgery, Savanna gets pleasure from putting her head/ear on whatever is around her.

Since her second surgery, Savanna gets pleasure from putting her head/ear on whatever is around her.

Unfortunately, Savanna is still battling something in her throat – or at least I think she is anyway.  She makes funny sounds when she is sleeping, kind of whistle-like.  When she gets really worked up, she has significant retraction in her throat.  Her swallow sound is really labored and noisy.  It is almost like when you have a really sore throat, and all seems well, then you swallow – ouch.  A swallow function study recently indicated Savanna is in fact aspirating thin liquids, what a surprise.  I had already ordered the infusion pump as a last resort option, and had been bolus feeding her through the G-Tube since surgery because my daddy instinct indicated she was having problems.  Plus she refused to suck after the second surgery and that to date has not changed.  So bottle feeding is over and done with for her.  She has a follow-up scheduled with her ENT soon that will shed light on the situation I hope.

She is otherwise very healthy and just generally really unhappy about half of her awake time.  It is somewhat concerning for us as parents, and we are really hoping her situation is just circumstantial regarding her teeth.  We have already asked for guidance once from her doctors.  Thus far, I think this just may be the way it is for some time yet.  I noticed during the swallow function study that her 2 year molars are right there too.  (This is a study done with x-ray ‘always on’, so there is plenty of time to see a lot of things in her head.)  I don’t see bulges on her gum in those areas, but the teeth are right there.  So, this could be a long six months or so.  God watch over her.

-dad