Lennox Gastaut Syndrome

Owen had another EEG on Wednesday afternoon.  By my count, in his two short years, he has now completed six EEGs.  The good news is he really enjoys them!  Owen loves having his head touched and rubbed, so having sensors glued on to it is like a giant massage for him.  The past month has brought increased seizure activity and irritability.  After a few months of Owen being in a fantastic mood, he is reverting back to the archy, screamy, crabby, awake little boy I know so well.  

It comes as no surprise that his seizure diagnosis has progressed from Infantile Spasms to Lennox Gastaut Syndrome.  Here is the information about this syndrome as described by the National Institute of Neurological Disorders and Stroke (NINDS):

What is Lennox-Gastaut Syndrome?

Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Most children with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays, and behavioral disturbances. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found.

Is there any treatment?

Treatment for Lennox-Gastaut syndrome includes anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children who improve initially may later show tolerance to a drug or have uncontrollable seizures.

What is the prognosis?

The prognosis for individuals with Lennox-Gastaut syndrome varies. There is no cure for the disorder. Complete recovery, including freedom from seizures and normal development, is very unusual.

Owen demonstrates all four seizure types many times a day.  We are sad for our guy that he continues to be on such a steep downward trajectory.  The good news is the prognosis of his cuteness remains excellent as demonstrated here: 

Bucket List Accomplishment

Owen has checked 'Day at Santa's Village' off of his bucket list.  On the Saturday prior to Labor Day, our family journeyed in to the mountains of New Hampshire to find our own version of the North Pole.  We were lucky enough to bring along Ellie's Godparents (and my cousin and cousin-in-law), Kevin and Carrie.  It was a great day for our family and I am so thankful we were able to have Owen join us.  After a long day of mini-donut eating, water slides, twirling rides, and reindeer feedings, we drove west to Littleton, NH to stay at a hotel with an indoor pool.  This was Ellie's first hotel/pool experience and she really enjoyed swimming the night away.

Owen did not take a dip, but he did sit in a lounge chair pool-side with me for part of the evening.  At one point, a family came into the pool area and almost immediately surrounded Owen and me.  At first I was a bit confused about the attention, but after chatting with the mom and her lovely son it was apparent that a great moment with Owen was unfolding.  This family was also at Santa's Village and had noticed Owen and our family.  They wanted to come over to us to say hello, but decided to give our family some privacy.  Seeing us at the same hotel that evening provided them a moment to introduce themselves and share their story.  Before me stood a lovely young man who manages some serious medical challenges.  He proudly showed Ellie and Owen his scar on his belly where he once also had a g-tube placed.  He spent time touching and talking to Owen and sharing his story with us.  It was amazing to see what kindness, compassion, and interest this preteen boy demonstrated to my children.  I can only hope that someday Ellie will behave with the same grace and maturity.  It was a great experience to wrap up a wonderful day as a family enjoying a traditional New England vacation.

In other 'Owen News', he has developed a granuloma around his g-tube site.  Apparently, this is very normal with new g-tubes and we have been visiting Owen's wonderful peditrician to slowly burn it off with silver nitrate. Owen has also needed his anti-seizure medications adjusted.  The past two weeks have brought near constant seizures.  Owen has gained a bit of weight, he is now up to 18.5lbs.  My hope is we are not seeing increased seizure activity, rather a need for more medication due to weight gain.  We will be visiting the neurologist on Monday so I will know a bit more then.  Owen seems to be developing what I have labeled 'phantom fevers' over the past month or so.  He will spike a 101-102 fever out of the blue, but it will then go away with no other symptoms.  Motility continues to be a concern- I noticed twice yesterday that he had green liquid in his belly when opening up his tube.  This is concerning because he does not have regular or frequent bowel movements.  We are also now venturing in to the area of pressure sores.  This has always been a back burner concern, but he seems to be developing redness on his buns, hips, and tailbone area after just 20 minutes of being in one position.  We are now needing to adjust his position every 20-30 minutes to help prevent breakdown of the skin.  He is also sharing 2-3 projectile vomits with us each week.  I am considering handing out plastic ponchos for people who come to visit us at our house.

These are the medical concerns I really hoped and prayed we would avoid with our sweet boy.  I long ago gave up any control on this journey.  We are just continuing to provide love and care for Owen.  When awake and alert, he seems very attuned to his surroundings and is so lovable.  On Sunday, I will be running a half marathon in honor of Owen's birthday and for another sweet little girl, Lizzie.  Last year, my friend Jenny and I ran a 5K on the anniversary of Owen's diagnosis.  I decided to set a goal of a half marathon to celebrate Owen turning two.  It amazes me that my guy is already a toddler- let the tantrums begin...

Ellie at the wheel

!

Enjoying the Merry-Go-Round 

Ellie riding the reindeer and 'pulling' us in the sleigh

Owen with Mommy's favorite elf

Ellie on the roller coaster- she is a thrill seeker

Owen among 'his' flower- Black Eyed Susans

A family ride around the park 

Not our best picture- we are all saying "Cheese Balls" 

Partying: Owen-style

Owen turned two yesterday and had a blow-out pool party bash to celebrate.  Here are a few pictures of the fun.  Owen slept through the night on Monday night and was up at 8am on his birthday for a kiss and bottle.  Then he powered back down and slept until 1:30pm when I picked him up to get in the car for the party.  He was clearly just planning ahead and conserving his energy because he was awake the remainder of the day and night taking in all of the festivities.  I am confident he had a blast!  Thank you to everyone who helped my little guy have such a special day!  There was also an amazing lantern launch at the end of the night. All in all a great day!

First present of the day was an Adrian Peterson jersey from Daddy

Dinosaur cake made with love by Mommy

Like any party animal, Owen had his hair done at the party so he was looking his best.  He brought his stylist Kelly as usual.  He is becoming so high maintenance....

Enjoying everyone singing Happy Birthday with Mommy, Mammie, and Brielle

A smooch from Daddy

Celebrating Two!

Celebrating Owen's second birthday is a pretty amazing feat.  I really did not think I would have the opportunity to whisper, "Happy Birthday, my sweet boy," to him another year.  Owen is leading me down a rocky path, but he has proven time and again he is here to fight.  His life is on his own terms and I am just chasing behind trying to keep up with him.  A mother's eyes are always biased, but I know my guy is one of the cutest kids on the block.  His red, curly hair and gorgeous blue eyes draw people to him.  The irritability of his first year and a half of life has mainly subsided.  He melts his body into mine, wraps his long fingers tightly around my hand, and I could spend an eternity 'a-gooing' with my delicious little turkey.  I have never been more in love with my sweet Owen, which makes the realities of his life so difficult.

This past year has brought us the diagnosis of Infantile Spasms, the disappearance of smiles and giggles, a confirmation of legal blindness, respiratory complications, loss of movement in his legs and torso, a confirmation of genetic rarity and mystery, dramatic progression and disappearance of white matter in his brain, a feeding tube, regular bowel issues, a full-time team of home nursing care, and the list goes on.  Instead of a thriving, skill-gaining two-year-old, we have a wheelchair bound, heavily medicated, seizure-laden little boy who continues to lose the little bits of life he has.  These are the realities of life with Owen.  They are harsh, but they are facts.

Is he still amazing, sweet, handsome, delicious, and a blessing to our family? YES! Can he feel the love that surrounds him by our family, his therapists, and doctors? YES! We will celebrate every year with Owen that he chooses to share with us.  Our goals for him remain the same; comfort and quality of life over quantity of life.  Owen has taught us a lot about parenting a medically complex child.  We can make statements like: "No feeding tubes!", but the reality is we are unwilling to watch our child slowly starve to death.  That does not fall into the category of quality of life.  I cannot watch my child writhe in pain due to bowel obstructions; I am going to medically intervene even though the cause of these obstructions lies within the realities of his brain disease.  At what point do you say enough is enough when the medical world is at your finger-tips?

Two-year-old Owen

I have no idea what the next year will bring for Owen.  My hopes include a diagnosis and comfort.  I just recovered from grieving the possible loss of him in early August.  Yesterday, Owen spiked a fever and vomited for the afternoon because he spent time outside.  My sweet boy has such a hard time maintaining his body temperature- very common with neurologically involved children.  It is so sad to see him struggle through days like yesterday.  His disease puts limits on every single aspect of his world.  Everyday is a roller coaster with my guy.  Will there be a 'Celebrating Three!' post in the future? I am not sure- and it doesn't matter to me.  If Owen wants to celebrate another year then I will be along side him.  Happy Birthday to the sweetest little two-year-old around.  I love you!

This is my alert happy guy a little over a year ago. He is so adorable! 

This is Owen demonstrating that just a year ago he could pick his feet up and move them around.  He could also bring his hands together and bring them to his mouth.  He cannot do any of these skills one year later. 

This is the last picture captured of Owen smiling.  It was taken in July 2012.   It was a great moment in time with his cousin Andrew, but who knew how special this photo would become? 

...And The Search Continues

The results are back and Owen does not have a mitochondrial disease.  Our guy is one of the rarest among the many rare kids out there.  In some ways it is like hitting the lottery, but not in the oodles of money kind of way.  I had been eagerly anticipating these results for the past month, only to be 100% distracted when they finally arrived.  It was just a blip on the radar of an intensely emotional week for Owen and our family.

Owen has been dealing with a cold for the past few weeks.  His baseline respiratory status is labored and not normal.  When he is sick he must work a bit harder- his baseline breathing is a struggled inspiration, but when sick he struggles with inspiration and expiration.  He receives a nebulizer treatment three times a day- often it doesn't do much to help with the labor of breathing, but he seems to like the sound and air...so he gets it.  This past Monday, there was a noticeable change in his breathing status - he was working much harder and sounded pretty bad.  His oxygen was at 86% (Owen usually fluctuates from 90-100% throughout a typical day).  His nurse and I agreed if he didn't sound better by Wednesday, I would bring him into the pediatrician.  Wednesday's doctor visit resulted in a tentative diagnosis of pneumonia in his left lung- he had a fever and his oxygen was at 88%.  A follow up on Thursday confirmed this assumption and his oxygen had dipped into the range of 85-87%.  This was easily the most sick I have ever seen Owen.  We were prepared for an end of life situation and attempted to emotionally prep ourselves.  In typical Owen fashion, Friday brought improvement of the fever and slight respiratory improvement.  Saturday continued to be fever-free and his breathing was close to back to his usual baseline.  Did he have pneumonia? Possibly or possibly not, but he was very sick, and he is a fighter.  Pete and I marvel at how strong our little boy is.  I am so thankful he is recovering and have spent the past few days smothering him with kisses.  Owen's cough still sounds pretty terrible, so I know he is still fighting something, but he doesn't appear to be sick so perhaps this is his new baseline.

Last night we took Ellie and Owen to their first viewing of fireworks.  We had a lovely family evening and the show was great- Pete and I really enjoyed it!  Ellie was far more interested in the $2 glow bracelets we bought for her and Owen demonstrated zero signs that he could see- or hear- the fireworks.  I have spent my morning sneaking up on him and banging things loudly to see if he would react.  Finally, a few moments ago, I banged a glass on the wood floor near his ear and he startled.  A mean Mommy, but I was seriously concerned that he might have lost his hearing!  This kid likes to keep me on edge!

Asleep while out to dinner at Flatbread's

Looking handsome in his wheelchair at a birthday party

Two sleeping kiddos after the fireworks

Asleep holding on to his favorite bead toy

Owen's 'I'm Two!' photo (it is a picture of a picture so the quality isn't the best)

Owen working out in his stander- we will slowly increase the angle to help his legs bare weight.  Very cool and he loves it!

Summer Fun

Picking up where the last post left off- Owen's ileus has resolved and he is doing well.  We are still working out his feeding schedule through the g-tube and have hit a few hiccups (well, projectile vomiting actually...), but it is working great for medication.  Owen was at the hospital yesterday for his follow-up after surgery and had some stitches removed.  After two stinky weeks, my guy finally got a bath last night.  He looked so great sitting in his tub chair and smelled delicious afterward.  Those bath wipes you use post-surgery leave something to be desired...

Here are some pictures of what Owen has been up to the past few weeks.

Daddy and me at a birthday party

Hanging in the cottage at York Beach, ME

Snuggling with cousin Connor at the cottage

A morning snooze amid toys

The bead toy on my left is my FAVORITE toy- and has been for over a year.  Also, I am now wearing t-shirts as opposed to onesies- my mom had lots of fun shopping for me post g-tube surgery

At the neighbor's house- was planning on a swim in their pool, but was so comfy on the pool float that I never even dipped a toe in the water!

Grilling on the deck with Dad

A snooze with Ellie's favorite mouse- she gave it to me to snuggle 

Fun at the park- my first time on the merry-go-round and I LOVE it!

Mommy and me at a birthday party

My first chance joining in the annual kids photo- Mommy was a bit nervous leaving me in Ellie's arms, but she and I did just fine!

Ellie demonstrating just how yummy beach ice cream really tastes!

Long Sands at York Beach, ME

Trying out the slide 

Results of Owen's Surgery*

*I am starting this post with an asterisk because I am sure some of my medical information will not be 100% accurate.  I will do my best to share what Owen's doctors told us last Thursday, but on a day that was very stressful...some of it might have become a bit muddled.

The good news is...Owen is home.  We came home on Sunday afternoon and were very happy to be out of the hospital.  The doctors, nurses, and staff at Children's Floating Hospital are amazing and accommodating, but I still hate being at the hospital.  Unfortunately, Owen has not been fairing well over the past few days.  Last night I brought him to our pediatrician with a very distended belly.  He has been miserable since Monday - belly bloat, arching, opening up his stitches, the whole shebang.  (of course- my guy was a cool cat on Sunday in the hospital and then Monday was screaming for the whole day.  Nice Owen.) The consensus last night between our pediatrician and Karen was Owen's bowels never restarted- Ileus.  We have reduced a medication in hopes to get things moving.  It is possible he will end up back in the hospital, but as of 10:30 this morning, the belly looks much better...although he still hasn't stooled. Poor guy!!

Here are the procedure reports from head to toe (actually thigh):

MRI:  Owen's brain MRI was read and compared to his last MRI which was in May 2012.  In a year, the white matter of Owen's brain has significantly thinned.  The brain stem appears to be functioning normally.  Owen's neurologist has been slowly steering us away from the category of Leukodystrophy for a few months now and this MRI further supports his theory.  Owen will always fit into the definition of Leukodystrophy because the white matter of his brain is abnormal.  He does not fit into the disease categories of Leukodystrophy because his disease is not progressing in the same manner.  A few examples are that his seizure disorder is much more significant than most Leukodystrophies and the progressive thinning of the white matter is much more rapid compared to most Leukodystrophies.  Owen's two brain MRI's -a year apart- show progression typical in an eight year time span of other Leukodystrophies.  The findings are significant and confirm that Owen's brain disease is progressive.  The only positive to take from this news is it helps Pete and I feel confident in our decisions to provide love and comfort to Owen for as long as he chooses to be with us, but we will be very cautious with medical interventions beyond comfort care.

Bronchoscopy: Owen has Laryngomalacia.  His vocal cords are collapsing which is the cause of his noisy, struggled breathing.  In most cases, this is something that can be fixed with a surgical procedure. Owen's ENT spoke with us about how this procedure will not work for Owen because the cause of his collapse is neurological and based on low muscle tone.  His recommendation is we put in a tracheotomy.  At this point, a tracheotomy is not in the care plan for Owen.  We will continue to treat his large adenoids with Flonase to help create breathing room.  His oxygen saturations fluctuate from 100% down to the low 90s depending on how hard he is working through out his day.  Our goals will be focused on keeping Owen calm and comfortable.  In the future, we are willing to provide supportive oxygen if needed, but we will not surgically intervene to open up his airway.

G-tube: Owen had a Mic-Key gastronomy tube placed.  So far it is working well for Owen.  We are now able to provide him with his medications via the tube rather than by mouth.  We will continue to bottle feed Owen during the day and then he will be on a 10-hour drip feed overnight for additional nourishment.  We are slowly working up to our goal feeding schedule - and Owen's belly bloat issues are making this difficult.  In the grand picture- this tube will be amazing.  Owen often sleeps for many hours and will miss scheduled medications and food.  If he is sick his sleep pattern extends significantly and proper hydration is always a concern.  These problems are now solved.  If Owen has an airway emergency in the future, we now have another way to provide him with supportive medication quickly. For all of these reasons, we are glad Owen was able to have the tube placed.

Muscle Biopsy: A biopsy of Owen's thigh muscle was taken for testing of mitochondrial diseases.  This is the only definitive way to test for this type of disease.  We would love to hear results of a diagnosis for Owen, but we are more likely to finally rule out mitochondrial diseases.  It will take about three weeks for the results.

Thank you for all of the support and prayers for Owen and our family.  We really feel blessed to have so many people cheering for the cutest red-head I know.

Playing with shaving cream the day before surgery

In his surgical garb before surgery

A very early morning waiting for anesthesia

Resting after surgery

Ellie and Mommy visiting the bear outside the hospital

Ellie playing in the amazing playroom at the hospital 

For those who are interested in why Owen's hospital is called the 'floating' hospital, I borrowed this from the hospital's website:  Floating Hospital’s history as a pioneer in pediatric care began with the Reverend Rufus B. Tobey, a kind-hearted Congregational minister who was struck by the sight of indigent women and their sick children enjoying cool ocean breezes on Boston's waterfront on sweltering summer evenings. Health care at the time had few means of therapy and fewer cures, but many believed in the cleansing and therapeutic qualities of sea air to ward off poor health and specific diseases. To help families, Tobey proposed taking sick babies and their mothers for a day's outing on Boston harbor. The Boston Herald reported Tobey's suggestion and the story brought in a flood of donations to help make it a reality. On July 25th, 1894, the Boston Floating Hospital was born on a rented boat named the "Clifford." Each day, babies received needed therapy, mothers learned how to care for and feed their children safely, and patients, parents, doctors, nurses, volunteers and crew enjoyed the "beneficial harbor breezes." For 33 years the hospital offered medical care for sick children while cruising Boston harbor. The Floating Hospital ship was destroyed by fire in the spring of 1927; fortunately, no patients were aboard.  Rather than rebuild the ship, the trustees decided to expand the on-shore program.  in 1931, the Jackson Memorial Building opened at the hospital's current site.  .

For those who are interested in why Owen's hospital is called the 'floating' hospital, I borrowed this from the hospital's website: 

Floating Hospital’s history as a pioneer in pediatric care began with the Reverend Rufus B. Tobey, a kind-hearted Congregational minister who was struck by the sight of indigent women and their sick children enjoying cool ocean breezes on Boston's waterfront on sweltering summer evenings. Health care at the time had few means of therapy and fewer cures, but many believed in the cleansing and therapeutic qualities of sea air to ward off poor health and specific diseases.
To help families, Tobey proposed taking sick babies and their mothers for a day's outing on Boston harbor. The Boston Herald reported Tobey's suggestion and the story brought in a flood of donations to help make it a reality. On July 25th, 1894, the Boston Floating Hospital was born on a rented boat named the "Clifford." Each day, babies received needed therapy, mothers learned how to care for and feed their children safely, and patients, parents, doctors, nurses, volunteers and crew enjoyed the "beneficial harbor breezes." For 33 years the hospital offered medical care for sick children while cruising Boston harbor. The Floating Hospital ship was destroyed by fire in the spring of 1927; fortunately, no patients were aboard.  Rather than rebuild the ship, the trustees decided to expand the on-shore program.  in 1931, the Jackson Memorial Building opened at the hospital's current site. 
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