A Tough Diagnosis: Dravet Syndrome

The last time I wrote on my blog I said I planned to send out updates more often, and then not too long after I wrote that post, we received the phone call that I haven't even been able to right about for the past 4 months.  The phone call that we had been waiting to get for over 3 months.  The phone call from Titus' neurologist with the results from the genetic testing that we sent off in December.  The phone call that broke our hearts and rocked our world yet again.
                                                        
We received the news that Titus has a very serious and very rare seizure disorder called Dravet Syndrome.  Dravet Syndrome is a part of what they call the Dravet Spectrum Disorders.  Dravet Spectrum Disorders describes a group of related epilepsies having a similar genetic cause, most commonly mutations in the SCN1A gene, which encodes a sodium ion channel found in the brain.  Titus is on the severe end of the Dravet Spectrum Disorders because he has full blown Dravet Syndrome.  This diagnosis is based on the fact that he has a mutation on his SCN1a gene and then due to his clinical presentation (the types of seizures he has been having). 


The SCN1a gene contains instructions (the genetic code) for the creation of a protein that controls how sodium ions move into the cells in our bodies.  A mutation in this gene leads to faulty functioning of this protein, called a sodium ion channel, in the brain.  The movement of sodium ions in and out of cells help control electrical messages in the brain so a faulty ion channel causes seizures. That's a very simplified/basic explanation, so if you are more science minded and want to know more you can click here http://dravet.org/about-dravet/genetics. 

So, what does all of this mean? That's the question everyone wants to ask and yet it's the  question that I can't completely answer even after researching for hours and hours.  Even though we know that Titus has a mutation on his SCN1a gene and that he has Dravet Syndrome, no two kids diagnosed with Dravet are exactly alike in the symptoms they exhibit, the medicine they respond to (or don't respond to), or the long-term outcomes they will experience.  

Here is what dravet.org says about Dravet Syndrome (SMEI): 

"Dr. Charlotte Dravet first described Dravet syndrome in 1978 as Severe Myoclonic Epilepsy of Infancy (SMEI). Dravet syndrome is at the most severe end of the Dravet Spectrum Disorders. The key features of Dravet syndrome are febrile seizures and status epileptics. 

The first seizures usually happen before one year of age, with no known cause other than fever or illness. Seizures that are brought on by fever are called febrile seizures.

Seizures progress to be frequent and intractable in SMEI, meaning that seizures do not respond well to treatment. They also tend to be prolonged, lasting more than 5 minutes. Prolonged seizures may lead to status epilepticus, a medical emergency. Status epilepticus is defined as a seizure that lasts more than 30 minutes, or seizures that occur in clusters, one after another.

Seizures usually become afebrile, which means they occur spontaneously without fever. Other types of seizures appear in early childhood, including myoclonic seizures, atypical absence and complex partial seizures. Nocturnal seizures, or seizures that occur at night, are common in Dravet syndrome.

Children with Dravet Syndrome are likely to develop other complications. Developmental delays appear between two and four years of age. This may or may not include regression or loss of developmentally attained skills."

I have now read hundreds of stories about different kids with Dravet Syndrome.  Many are heartbreaking and everyone one of them is so different.  Some kid's seizures are fairly under control with medicine. Some still have literally hundreds of seizures a day that are not able to be controlled by medicine.  The seizure types and frequency can change from week to week, month to month, and year to year.  For some reason, ages 2-4 seem to be the toughest years seizure wise and development wise.  Most kids with dravet develop varying levels of behavioral and developmental delays, balance issues, orthopedic conditions, delayed language and speech issues, growth and nutrition issues, sleeping difficulties, chronic infections, sensory integration disorders, and disruptions of the autonomic nervous system (which regulates things such as body temperature and sweating).  And when I say varying, I mean there can be a HUGE difference from kid to kid in each of these areas.

Let's be honest.  Dravet Syndrome is bad.  Even the stories they often call "Stories of Hope" don't seem very hopeful to me.  I literally had to make the decision to stop reading stories about kids with dravet…partly because they seem so scary and heartbreaking to me and partly because everyone of them is so different.   As much as I want to be able to plan for the future and know what Titus' life will look like….I am not going to be able to know what the future will look like for him.  If there is anything I have learned from all of my research about Dravet Syndrome it is that Titus' story is not going to be identical to anyone else's.  

Right now Titus is doing amazing!  He has been cruising around the house for the last several months and started walking about 2 weeks ago. He is very strong and is an amazing climber.  His favorite words right now are "hi", "bye bye", "bath", and "ball" and he loves to point at things and say "ooohhh".  He signs "more" and "all done" like a champ and absolutely loves people!  When I take him out in public he waves at everyone that passes by and smiles from ear to ear.  Needless to say, we make friends everywhere we go!  I truly feel as though God has given Titus an extra special amount of joy. His smile and joyful demeanor are contagious to everyone around him!  

As far as seizures go, as long as Titus is not running a fever, they have been really well controlled with medicine.  His last long (status) seizure was about 10 weeks ago (it was really bad) and put him in the ICU for 5 days, but since then has has only had two seizures that required emergency medicine and they both stopped quickly at home.  We have no way to know what tomorrow will look like.  He could develop new types of seizures next week, next month, or next year, as well as the frequency with which he has seizures could change any day.  

It would be an understatement to say that this has been tough to process.  There have been many days and moments filled with grief and tears.  If I let myself worry about tomorrow and what the future will look like for Titus and what we may be about to face, I am absolutely heartbroken and completely overwhelmed with fear and grief.  I am having to learn to not worry about tomorrow, to not think about all of the "what ifs".  I am having to learn to praise God for every day that we are given with Titus, everyday that is seizure free right now, everyday that Titus is just a normal 14-month old little boy.  I admit that some days I do this really well and other days I really struggle not to worry and not to think about the future.  But right now we are praising the Lord for how well Titus is doing and trying to enjoy everyday to the fullest! 

And I still believe in a God that can heal Titus completely from this or a God that can use medicine to keep him mostly symptom free even though the odds are against us.  I have a dream that one day Titus will stand before crowds of people and tell the story of all that God has done in his life.  How God has healed him and/or allowed him to defy all of the odds of the Dravet Syndrome diagnosis, and that through his story many would come to know and walk with the Lord.  And yet I know that God may have a different plan for using this.  It may be that Warren and I stand before crowds of people and tell the story of all that God is doing, and has done, in our lives through the love and the life of our sweet little boy with severe epilepsy.  Oh how I pray with all my heart that God will use this for his glory, that God will richly bless Titus' life, and that God will give us the wisdom and the strength that we need everyday to walk this journey with Titus!

So many of you have already been walking this journey with us and you have loved us well! We could not have made it through this last year without your prayers, your encouragement, and your tangible acts of service.  We have been richly blessed by you!  I have never been good at admitting I need help, let alone asking for help, and yet I am having to learn to do both of those things.  And we are going to continue to need your love and support in the days ahead.  We may need help when we spend days in the ER and weeks in the hospital with Titus (especially since our newest little Reichel, Jonah, will be here next week…..yea!!).  We may need adults that are willing to watch Titus and Jonah for a little while so that Warren and I can take a break and spend time together (this can be hard because we can't  leave Titus with just any high school babysitter).  We may need a listening ear, a girl or guy's night out, a phone call of encouragement, and many other things I am sure….. but most of all, we will definitely need your prayers!  We need your prayers for Titus and we need your prayers for Warren and I.  God has so richly blessed us with wonderful community and we could not be more thankful for each and everyone of you!

Wow!  That was a lot….and probably not even half of what I am thinking and feeling at this point…. but for today it's enough.  I am sorry that it has taken me this long to update all of you, but I have really struggled to write about this. Now that the hard stuff is out there, I feel like I will be able to write more often and keep you all posted on how Titus is doing. Thank you for letting me pour out a little bit of my heart to you and let you in on our joys and struggles.

I LOVE this song called "Broken Hallelujah" by the Afters (Click here to listen to it on YouTube). The words are perfect for what is going on in my heart right now. No matter what may come, may I always sing Hallelujah!

                                                   

"Broken Hallelujah"

I can barely stand right now.
Everything is crashing down,
And I wonder where You are.

I try to find the words to pray.
I don't always know what to say,
But You're the one that can hear my heart.

Even though I don't know what your plan is,
I know You're making beauty from these ashes.

I've seen joy and I've seen pain.
On my knees, I call Your name.
Here's my broken hallelujah.

With nothing left to hold onto,
I raise these empty hands to You.
Here's my broken hallelujah.

You know the things that have brought me here.
You know the story of every tear.
‘Cause You've been here from the very start.

Even though I don't know what your plan is,
I know You're making beauty from these ashes.

I've seen joy and I've seen pain.
On my knees, I call Your name.
Here's my broken hallelujah.

With nothing left to hold onto,
I raise these empty hands to You.
Here's my broken hallelujah.

When all is taken away, don't let my heart be changed.
Let me always sing Hallelujah
When I feel afraid, don't let my hope be erased
Let me always sing Hallelujah.
Let me always sing Hallelujah.

I will always sing
I will always sing
Here's my broken hallelujah.

Blessings, 
Julie

Our Precious Titus…Living With Epilepsy

OUR PRECIOUS TITUS….
Well, it has been over a year since I wrote anything on my blog and so much has taken place since then.  On April 22nd, 2013, our precious Titus David was born! He has brought more joy and more fun into our lives than we could have ever imagined! He is 10 months now! I can't believe it!  He started out in the womb as an active little guy and came out of the womb ready to go.  He started army crawling all over the place at six months and pulling up to standing at 8 months.  He is currently learning how to get into or climb onto everything! He discovered the toilet, the toilet paper roll, and how to climb into the bathtub this week.  Needless to say, we can't take our eyes off of him for one second. He has the biggest smile and the best laugh, he loves people (even complete strangers), he gives kisses, claps and high fives on command, and never stops moving.  We are blessed by our little guy everyday!

THE BEGINNING OF TITUS' SEIZURES…..
And now for the hard part. The part of our sweet Titus that is bringing tears to my eyes as I type.  Five months ago, I was home with Titus when out of the blue he started having a seizure.  I called 911 and an ambulance came. They immediately started an IV and gave him medicine. The seizure lasted a total of about 15 minutes. We were taken to Children's Hospital in Dallas where we stayed over night with him and they did an EEG the next day. The EEG came back normal so they sent us on our way and said a lot of kids have one seizure and that he would probably never have another one again.  But deep down I didn't have a good feeling about the whole thing.  Mainly, because I realized after Titus had that first seizure that about a week before the seizure happened I had noticed Titus having some brief one second body "jerks" randomly throughout the day. I thought I was startling him or scaring him and making him kind of jump. But once the seizure happened, I knew they must be related. The doctors didn't really seem to listen to me when I told them about the little jerks I had noticed and sent us on our way.

The short body "jerks" continued over the next week or so and even got a lot worse. He started having over 50 or more a day.  We were very concerned, as well as my pediatrician, who sent us to a pediatric neurologist in Grapevine.  We saw her and she wanted us to have another EEG done. That night, after seeing the neurologist, Titus had his second long seizure (lasting about 15 minutes). This one stopped on its own right after we arrived at the ER. That next week Titus had his second EEG at Grapevine hospital.  We found out that afternoon that the EEG was abnormal and she wanted us to be admitted to the hospital immediately because she was afraid he had something called infantile spasms (which is a super rare, super scary, often debilitating form of epilepsy in infants).  We were shocked. We were scared out of our minds. We googled infantile spasms and read all of the awful things about it. We couldn't believe this was happening!  We were admitted into Cook Children's Hospital Friday evening and they immediately hooked Titus up to an EEG machine to be monitored continuously while we were there.  They also monitored Titus by video, and every time Titus had one of his "jerks" we would press a button to mark it on the EEG and the video.  The next day at around 10:00 am they took the EEG electrodes off of Titus and he had an MRI done.  That was a nightmare…5 hours of no eating beforehand because they had to put him to sleep for the MRI….not fun. 

THE DIAGNOSIS….EPILEPSY
We made it through the night, through the MRI, through all of the blood work, and finally got to meet with the neurologist for some sort of diagnosis.  We quickly learned that Titus did NOT have infantile spasms…Praise God…and that his MRI looked completely normal.  But his EEG was definitely abnormal.  He was having  quick one second seizures every time he had one of his little "jerks".  So, they diagnosed him with idiopathic epilepsy, which basically means they don't know what is causing the epilepsy.  The neurologist said that we would just have to wait and see how things continue to play out.  He said it was maybe something he would outgrow but maybe not.  He said the fact that Titus was having a lot of short little seizures throughout the day was actually more concerning than if he was just having a few longer ones.  So, we received good news and bad news that day.  We were so thankful that Titus did not have infantile spasms and that his blood work and MRI all looked completely normal but he has Epilepsy…what does that mean? What does that look like? How long will it last? Will medicine help? Will this affect his development? We had a thousand questions that could not be answered by the doctors…we would just have to wait and see.  We were discharged from the hospital with prescriptions for a daily seizure medicine and an emergency rectal seizure medicine to give him if he had another seizure lasting longer than 2 minutes.


LATELY…..
That was the beginning of our journey with epilepsy.  Now, here we are almost 5 months later.  We have been through multiple increased doses of medicine #1and added medicine #2 with not much success.  His short little "jerk" seizures are about 50-75% better depending on the day but his longer tonic clonic seizures have gotten worse.  In the last month or so he has been having about two a week that last anywhere from 2 to 15 minutes.

THE BAD ONE….
On December 18th, he had his first seizure that did not stop after we gave him his emergency medicine.  We ended up at the ER where they gave him 3 or 4 different medicines through IV before the seizure finally stopped after over 45 minutes of him continuously seizing (the technical term is status epilepticus or SE).  We were admitted to Cook's Hospital again to be monitored over night because of all the medicines he had received they were worried about watching his breathing and his heart rate.  We spent several hours in the Flower Mound ER, were transported by ambulance to the Cook's ER, spent several hours there, and then we were finally admitted to a hospital room. The medicine made Titus crazy and restless but he seemed to be doing okay otherwise.  He began running a fever the next day and we found out that is probably what had triggered the bad seizure. Often, when a kid has epilepsy, fever lowers their seizure threshold tremendously and can cause really bad seizures.

NEW MEDICINE….
At the beginning of February, since Titus' seizures were getting worse we were admitted to the hospital again to do a 24 hour EEG and look at putting Titus on a different medicine called depakote.  The doctors have been hesitant to switch him to this medicine because it has some possible scary side effects and they don't like to give it to children under 2 years old.  The overnight stay went well and they got plenty of seizure activity on the EEG.  The doctors and nurses at Cook Children's have been amazing!  We have been so thankful to be in such a wonderful hospital and be so well taken care of.  The neurologist and the epilepsy specialist agreed that they wanted to try one more medicine before they put him on depakote.  We were thankful to try medicine #3 and hold out on taking depakote a little longer.  After we came home from the hospital and added medicine #3, Titus had an amazing week. The best week he has had in months.  No long seizure and only a couple of "jerks" all week! We were so excited and so hopeful that this was maybe going to be the medicine that worked for Titus….and then Titus got sick again with a fever.

THE WORST ONE SO FAR….
We called our neurologist, put him on extra seizure medicine, took him to the pediatrician, and went to sleep Thursday night feeling like we had done all we could do to hopefully prevent another crazy seizure.  I awoke suddenly at 2:00 am to hear Titus having a bad seizure (he makes kind of a weird throat noise if he is having a really bad seizure).  We immediately gave him his emergency medicine and then called 911 when it didn't seem to be stopping.  They came and gave him a shot of some medicine and then drove him to the Lewisville ER.  He then received 3 or 4 different medicines and yet the seizure continued. After over 45 minutes of seizing, and 5 different medicines, the seizure stopped but Titus' oxygen level began to drop.  He was not breathing well enough on his own so they had to intubate him and put him on a ventilator to help him breath.  This all happened so fast and was probably the scariest moment of my life as I watched them yelling at each other and urgently trying to help him breath better and keep his oxygen level up.  This is not what any parent wants to see happen, but I think it was especially traumatizing and scary for me after having already watched my first son die….I was freaking out watching this drama play out before me with my healthy precious Titus.  We were then transported by helicopter to Cook's ICU.  Titus was completely out of it for about 10 hours.  Friday afternoon, they were able to take him off of the ventilator but he was still having trouble keeping his oxygen level high enough so he had to be on oxygen (through his nose) through Saturday morning.  It wasn't the seizure that had affected his breathing but all the medicines they had to give him to stop the seizure.  It took over 3 days for all of the medicine to wear off and Titus to return back to his normal self.  By day 3 he could finally crawl around again but he looked like he was drunk and he would fall over if he tried to stand up.  It was so sad! Thursday night and Friday night were two of the longest nights of my life…I think I only got a total of 6 hours of sleep both nights combined.  All of the blood work came back normal, Titus' fever went away, and he looked about 50% normal by Sunday morning so we were able to go home Sunday afternoon.  Wow! What a nightmare!


SO WHERE ARE WE TODAY….
We are home. Titus is back to his normal outgoing self and life seems almost normal and uneventful at the moment.  We are continuing his new medicine and in the past week we have only seen a few short once second seizures.  We are waiting on the results from a genetic test that they drew blood for in December that takes over 3 months to complete.  This test will tell us if his epilepsy is being caused by a genetic abnormality.  We are hopeful that maybe medicine #3 is still going to help control Titus' seizures.  We have been praying without ceasing. We have been praying that the genetic test comes back normal. We have been praying that maybe this is something he will outgrow. We have been praying for a miracle….that God would heal our sweet Titus completely.

SO WHERE AM I TODAY….
I am not going to lie, lately there have been so many days that are really hard.  There are days when I am exhausted and overwhelmed.  There are days when I just want to have a "normal" healthy kid.  Days when I don't want to be driving to Cook's for another doctor's visit, going to the pharmacy to refill another medicine, running through the grocery store to find a bathroom because Titus is having a seizure and I need to give him his emergency medicine.  There are days when I just want to be able to leave Titus with a babysitter.  I want to be able to leave him in the church nursery without checking my phone every 5 minutes.  I don't want to end up in the hospital every time Titus gets a fever.  I don't want to ride in another ambulance, or see Titus put on a ventilator, or spend another hour in an ER or another night in the hospital…..there are so many tough days!  And yet I wouldn't trade any of the tough days if it meant Titus wouldn't be in my life.  The truth is Titus probably wouldn't be here had our first son, Timothy, been a normal healthy baby.  I have known from the day we found out that we were pregnant with Titus that God must have some big plans for his life.  When he first began having seizures, I found myself only begging God to heal Titus and I found myself overwhelmed as the days turned into months and the seizures continued.  A Focus on the Family broadcast about an amazing godly mom and her little boy with cerebral palsy (who is now a grown man) helped me see how I might begin to pray differently.  This little boy's life had been tough, to say the least, but God had used his cerebral palsy and his testimony in a mighty way to spread the gospel.  

God is beginning to change me.  I still pray for healing for Titus and believe that someday God will answer that prayer, but I pray even more for Titus' heart.  I pray that Titus will come to know the Lord at an early age and that his life will be a powerful testimony to others and that many will come to know the Lord through the seeds that he plants.  Maybe that will be through a powerful testimony of living his whole life with epilepsy or maybe that will be through a powerful testimony of how God healed him from his epilepsy.  I don't know at this point….but what I do know is that God promises He has a good plan for Titus' life and right now, as hard as it may be, epilepsy is a part of that plan.  I pray everyday that God will give me the strength I need to endure.  I pray that He will give me peace that surpasses all understanding.  I pray that He will increase my faith and my trust in Him because there are so many days lately when my faith is weak and it's hard to trust Him completely.  I pray that He will give me the wisdom I need to be the best mom that I can be to this little guy as our journey with epilepsy continues.

Blessings, 
Julie