Electroencephalography

Tuesday morning we braved the icy interstate and drove 33 miles to Children's Hospital Denver North Campus.  What should have taken about 30 minutes took us over an hour.  But God is good and we made it without incident.

 

Elias was scheduled for an electroencephalography or an EEG at 8am.  It can be somewhat difficult to schedule an EEG and we didn't want to wait another month or more to have the test done.

Brian kept Elias awake until midnight and I woke him up at 4 am. 

Given how terribly tired he was, our little man did really well. 

In order to move forward with weaning off of his medications, Elias needs a clear EEG.  We are hoping and praying that this test comes back normal!

No News Is Great News

Hello dear friends and family!

Sorry I haven't updated in some time.  No news is GREAT news in this case. 

Elias continues to be seizure free and we are so very thankful.

I want to just say this.  Brian and I are followers of Christ.  We believe in healing and miracles.  We believe the Spirit is alive and active even today.  God DOES heal.  He doesn't always choose to but He certainly can.  Elias has been prayed for by many, including our church Elders. 

The Bible says in James 5:14

"Is anyone among you sick? Let him call for the elders of the church, and let them pray over him, anointing him with oil in the name of the Lord."

We believe that the words spoken here are just as true today as they were during that time.  We are praying fervently that God heal our son.  We give God the glory for the months Elias has been seizure free, whether he is healed long term or not. 

Let me be very clear.  There is NO medical explanation for what has happened to Elias.  It certainly isn't as mysterious as a person full of cancer suddenly being completely cancer free.  It is easy for the Doctors to just say, "sometimes epileptics can be seizure free for some time after a medication increase."  But friends, Elias didn't just stop having seizures with medication...he just stopped having them.  This is a miracle.  There is NO other way to look at it. Nothing else in our lives changed.  God moved in our son's life in a major way.  Thank you, Jesus.

For now, Elias will remain on the full dose of the two medications he is still taking.  We need to wean him off safely.  These are major drugs, one even being a controlled substance.  Quieting cold turkey isn't an option, healed or not.

Elias will have another EEG on April 16th.  If he is having seizure activity that we just are not seeing, the EEG will make it obvious.  We are asking everyone to pray that this EEG come back perfectly normal.  That there would be ZERO seizure activity in our little man's brain.

Will you pray with us?

Peaceful Next Steps

In December, we met with a nutritionist at Children's to discuss the benefits of the Ketogenic Diet for Doose Syndrome patients.  We decided that because we were struggling to maintain control over Elias' seizures that we would initiate the diet at the first available opportunity. The initiation, which is a 5 day long hospitalization, was to be February 11th thru the 15th.  We added a third medication in hopes that the seizures would remain under control until then.

A few weeks later, the medication stopped working.  We called Children's to discuss if we wanted to increase the dosage of any of the three medications he is on.  For whatever reason, no one ever called us back.  And the seizures, they went away.  Totally went away. 

After two weeks of zero seizure activity we called Children's again to discuss it with our neurologist.  With Doose syndrome, children can have long periods without seizures.  In fact, Elias has had several week periods where he has been completely seizure free.  But these ALWAYS came after a dose increase, which we hadn't done.

The neurologist suggested that we wait another two weeks and if he still didn't have any seizures, that we should talk about pushing back the initiation and, instead, start to decrease some of his medications.  Once you start the diet, you have to wait at least 3 months to make any changes to medications.  And if you can start on a lower dose, you have a better beginning to being medication free, which is the ultimate goal since these medications are difficult on the body.

Two weeks passed and Elias still had not had a single seizure.  We called the neurologist again and instead of having the conversation we expected, the Doctor threw us a curve ball.  She told us that she would support us if we decided to wean off one of his medications but that we really should go forward with the diet.  My heart hit the floor.

Now we had to decide if we wanted to move forward with the diet.  We had been under the assumption for over a month that if Elias remained seizure free, we would take the opportunity to decrease his medications.  We were not ready emotionally, spiritually or organizationally.  We hadn't taken the proper steps to prepare for this.

With a heavy heart, I called Children's and canceled his hospitalization.  I just didn't feel right about moving forward with such a life changing diet/lifestyle change without having more information and being better prepared.

We are praying that Elias is completely healed; that we will wean off of these medications and he will continue to be seizure free.  For now, Elias is scheduled to be initiated the first week of March.  We are praying for wisdom on what to do and where to go from here.  We still don't know if we will be ready to move forward with the diet in March but for now, we have peace in our hearts.

We trust that our next steps, though through turbulent water, will be peaceful because they are guided by the One who loves our son more than we ever could.

The Lord is my shepherd, I lack nothing.
   He makes me lie down in green pastures,
he leads me beside quiet waters,
   he refreshes my soul.
He guides me along the right paths
   for his name’s sake.
Even though I walk
    through the darkest valley,
I will fear no evil,
    for you are with me;
your rod and your staff,
    they comfort me.
Surely your goodness and love will follow me
    all the days of my life,
and I will dwell in the house of the Lord
    forever.

Of Loss and Mourning

That day's diagnosis left me feeling many things.  

Although my son is alive and otherwise healthy, there was (and is) a sense of loss.  Elias could come out of this completely normal and have no long term medical issues.  But he could also battle the effects for the rest of his life.  It is somewhat difficult to explain the process my heart had to go through.  In many ways, I had to mourn the loss of everything I had hoped for for Elias, not because I fear the worst but because I had to come to terms with the possibility of what could be.  

Education has always been important to me.  Doing well in school was my top priority growing up and I expected the very same from my children.  I prayed that they would be devoted to their studies, that they would excel in all they put their minds to including sports, music and learning.  I dreamed of them spending hours a day reading, as I did.  Up until his first seizure, Elias was completely normal, developing early in many areas (save for his speech development which was delayed).  His epilepsy brought me to my knees and changed the way I see my children; the way I pray for them; the dreams and hopes I have for them.  

Now I pray that my children would be generous in heart, humble, full of joy, loving and creators of peace.  I will still expect my children to do their best but my priorities are different and for that, I am thankful.

Elias could have seizures the rest of his life.  He could never drive, never swim alone, be limited in what sports he can play, have permanent speech delays and much more.  

But I must come to say that it is well with my soul.  My son's worth is more than his ability to do well at the things I measure as important.  

 

Doose Syndrome

Doctor B's gentle words rang in my ears. "Mom, it looks like Elias has a rare form of epilepsy. Myoclonic-Astatic Epilepsy (mae) or Doose Syndrome."

A diagnosis. Finally. Finally a Doctor had taken the time to listen.  I felt validated.  Finally someone had acknowledged that I was right. These were not normal seizures, if there can be such a thing.

Dr. B explained that we needed to make an appointment with an epileptologist right away because the faster we could get treatment for Elias, the better the outcome.  In many ways I was relieved. There is a treatment. We could move forward. There was a plan and Dr. B would do everything he could to get us in to see a specialist as soon as possible.

But I was also angry. For nearly a month I had been begging for someone to listen. I had emailed videos, made dozens of calls. Why had the on-call Doctors missed something he had caught so quickly (without even seeing the videos)?  If time is so important, why do these on-call Doctor's not know more about this syndrome?  Dr.B explained that the on-call Doctors are residents and they often lack bedside manners. They have not learned that mothers are the best source of information and usually know when something just isn't right.

When our conversation was over, I had an appointment with a neurologist specializing in epilepsy-called an epileptologist and about a million questions.  

What exactly is Doose Syndrome? Is it genetic? Could our other children have it? What is the success rate of treating with medications?

Honestly, my questions were not answered thoroughly at our first appointment or even at our second appointment.  I still have many questions.  But I do know this.

Doose Syndrome is a rare genetic mutation that isn't well understood.  The chances of our other children having it are the same for any other child, meaning that it is not an inherited defect.  It is difficult to treat and resistant to medications. MAE is an idiopathic generalized epilepsy, meaning that there is no known cause for the seizures (idiopathic) and the seizures originate from all over the brain (generalized) as opposed to coming from one focal area. Onset of MAE occurs commonly in the first five yeas of life, with the mean age being three. Statistics show that it usually affects children who have previously developed normally, and boys are twice as likely as girls to develop MAE.

MAE is a syndrome with variable courses and various outcomes, meaning that the treatment each individual child responds to will also be highly variable. There is no 'right' answer that encompasses the whole range of children - each parent in conjunction with their treating physician must therefore be part of the process where they strive for the ideal treatment for their individual child to be found.  

And the hardest for me- Doose Syndrome can lead to long term cognitive learning disabilities.  

Beyond that, we don't understand much.

Diagnosis

In May of 2012, our lives changed forever and we didn't even know it.

Elias, our 2 year old son, was playing in his sandbox while I washed dishes. After about 10 minutes, Elias came in the door and laid on the floor.  I picked him up and he immediately fell asleep in my arms.  He had never done this before.  I took his temperature, which was normal.  I laid him on my bed and checked his breathing, which was also normal.

I decided that he must have gotten really hot and just didn't feel well.  Looking back on it, I feel ridiculous.  I should have known.  But after a 30 minute nap, he was back to himself, so I told myself everything was fine.

Even if I had called the Doctor, all she would have said was that since I had not actually seen anything suspicious (meaning convulsing), there would be nothing they could do. That seizure isn't even included in his medical chart.

Then came June 7th.  We took Elias to a local splash park to cool off.  We had a wonderful time and decided to hit up a burger joint for dinner to extend the fun.  While eating fries, Elias slumped back in his chair.  I touched his arm to see if perhaps he was just playing, as he often does.  He nearly fell from his chair from my light touch.  Immediately I knew what was going on and immediately knew what had happened in May.  My husband and I watched helplessly as our son had what we would later discover to be a myoclonic seizure.

When the seizure was over, he appeared normal except for being very sleepy.  We put him in the car and took him home.  We checked his temperature, which was normal.  We decided that since the Doctor's office was closed and that the matter did not seem urgent, we would wait until the next day to attend to the matter.

We took Elias to the Doctor's office the next day, only to receive zero information and a referral to a neurologist at Children's hospital.  We called and set up an appointment as soon as they had an opening.

The neurologist at this first appointment was very kind. The kind of doctor you feel will actually give you the time of day. She told us that this could likely be a singular event but that she wanted to order an EEG just to check out what his brain was doing. EEG's cause spikes in the brain that show those who can read the results if there is seizure activity on the brain. 

We scheduled ours for the coming month, July 1st. We were instructed to deprive him of sleep, which was surprisingly easy save for the 40 minute car ride to the North Campus of Children's Hospital Denver. Although a little grumpy, Elias was a champ. After watching several minutes of blinking lights, he easily fell asleep as I snuggled him (which is exactly what he was supposed to do)...I even drifted off for a few minutes. The hardest part of the whole thing was getting the "noodles" on and off of his head. They have to stick them to your head with a glue like paste and it can be uncomfortable, I hear.


Hours after his EEG, which we would later learn showed activity consistent with epilepsy, he had another myoclonic seizure.  The neurologist recommended that we start him on a common anti seizure medication called Keppra, which we did.

His EEG

After his MRI

After several more neurology visits, seizures, an ER visit and an MRI, Elias started having a different type of seizure.  Our regular neurologist was in a horrible biking accident and the neurologist they reassigned us to had just gone on an extended vacation.  I called Children's almost daily trying to get the on call doctors to understand.  No one would listen.  After two agonizing weeks, our neurologist, Dr. B, came back from vacation and took the time to call.  He explained that from the reports, it appeared that Elias had a rare form of Epilepsy, affecting less than 1% of all people with epilepsy. That was August 21st, my 25th birthday.

Welcome

Hello, friend.  I am so glad you are here.  My name is Mindy and my son, Elias, was diagnosed with Doose Syndrome in August of 2012 at the age of 2 1/2.  This blog is our journey in overcoming MAE.

To those of you who are here because you know my little man and wish to stay updated on his progress, thank you for loving on him and for remembering him in your thoughts and prayers.  We are so thankful to our family, friends and church body for their encouragement, prayers and financial support.

If you have found this page because you stand at the door of a Doose Syndrome diagnosis, than I pray that this blog encourages you, informs you and provides a place for you to understand your diagnosis.

Please feel welcome to email me at eliasdoosefree@gmail.com with any questions or comments.