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!
Blessings,
Julie
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.
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
