Holding Strong

As I sit here in the hospital with my little man Lafe again, I am reflecting on what has gone on since my last blog.  Other than this bump in the road, it has been wonderful. Lafe continues to come along in his own way the last few weeks.  His personality is really starting to show and he is the sweetest baby.

I remember several months ago, Lafe had a pretty simple routine.  Wake up, look around at nothing in particular, eat some, do therapy, and sit in his chair or on someones lap.  Fast forwarding to the present he is a busy guy.  Lafe starts off his routine by being cute.  He as a pulsox he wears every night when he goes to bed.  It tells us his heart rate and his oxygen levels.  I wake up to one of two things in the morning, either Lafe lays in his bed a coos and sings to himself and I find him smiling and waiting for someone to pick him up, or I wake up to that dreaded alarm going off.  About 95% of the time lately it has been him picking his legs up and throwing them down on his mattress until the monitor comes off his toe setting off the alarm.  Since baby cakes does not cry, this is his way of saying "get up and feed me mom".  I still get a smile every morning whatever way he wakes up.

After our breakfast I do his meal preps and we get Lafe cleaned up for the day.  We play on the iPad and Lafe helps me crochet, he loves to play in the yarn.  Scotty likes to play race cars with Lafe while I pick up the house because we normally have visitors for Lafe who assist with therapy.  Lafe is a happy baby, no crying and all smiles. We do baby massages, stretching, and lots of lovey time.  This is a different baby than what we had this time last year, and we are so happy and thankful for his progress.

Today my hero has shown me just how far he has come.  This morning Lafe had another seizure, one of the seizures where he stops breathing on us, the scary kind.  At first I thought it would be the same routine with him, he has the seizure, we go to the hospital, they tell us he is sick with something, and he lays in the bed lethargic for a day and a half not eating or drinking and unable to see or communicate with his family.  The first part of our day started off the exact same and he had us all worried.  He fought through and came to this afternoon.  He looks like he does not feel good, but he is happy.  His vision is back, he is all smiles, and he is flirting with the staff.  It is so nice to see him interacting so soon after the seizures he has had, it confirms that something we are doing is working for him and we just need to continue in that direction and keep faith in what we are doing and the decisions we are making for him in his care. Well, we are waiting for some results and I am going to take the time snuggle with my baby bear.  As always, thank you for reading and we are excited to share our journey with you.

A little background about our journey

My name is Dana and I am the mother of a child with Dravet Syndrome.  To start, Dravet Syndrome is a severe form of epilepsy that causes catastrophic seizures (putting it lightly).  My child who is affected is a beautiful, sweet, courageous 17 month old by named Lafe and this is the beginning of our story.

My husband and I married in 2008, almost one year later to the day we welcomed our first son into the world, Mr. Scotty.  At the time I was a police officer working long hours and my husband was a fireman and an EMT.  I always wanted to stay home with Scotty, unfortunately we could not afford for me to do so. After a few years, I changed gears and got an office job, it wasn't exactly the excitement I had hoped for but the hours allowed me to be home in the evenings.  I later took a job with the State and loved it. It combined some of the thrill I had been missing while being a police officer with feasible hours that worked.  The only hiccup, when I took the job I was 8 months pregnant with Lafe.

My husband and I were able to save enough money I could take four weeks off without pay for maternity leave. I had an uneventful pregnancy with Lafe, craved a lot of spicy foods, couldn't stomach the smell or look of raw meat, you know the normal stuff.  On a late summer day I went in for a routine check up, I was one week away from my due date.  My doctor advised me my blood pressure was up and I needed to be induced, this did not worry me as it was not the first time this happened.  After four hours of hard labor pains and 20 minutes of pushing Mr. Lafe made his way into this world.  He was not crying but looked good overall except for our second little hiccup, his testicles were the size of a baseball. 

Once Lafe was breathing well, he was taken out of the room.  I had no idea what was going on as this was not what happened the first time I went through this life changing event.  I waited for what seemed like 2 hours before anyone talked to me (it was more like 45 minutes is what I was told).  My husband came up to the room to tell me our pediatrician was on the way with a urologist as my sons overly large testicles were a concern.  Our doctors sat us down and told us Lafe had an inguinal hernia that would not be pushed back in place manually. We were also advised it was the largest hernia the staff had seen. It was suggested we have Lafe taken to a children's hospital almost 3 hours away for possible emergency surgery.  We had mixed emotions and a lot of questions about what was going on.  Our pediatrician is an older man who has treated my husbands family for years, we trusted his decision and as reluctant as I was to let my baby go without me I allowed it. It was not nearly as simple as that, the staff had to make a deal with me to allow me discharged no later than 7:00 a.m. the next morning so I could be with my child who I did not get to bond with right away.  I said goodbye to Lafe and to my husband and stayed up all night worrying about both of them.

The next morning my wonderful sister came down and drove me to Children's Hospital.  She was all to familiar with the place and knew the ins and outs.  We received good news on the way down, they were able to manipulate the hernia and surgery could be postponed until he was a few months old.  The doctors wanted to keep him for observation just in case everything would not stay in place.  I remember walking into the Neonatal Intensive Care Unit and seeing my little guy.  He was so peaceful and the most beautiful baby, and the biggest baby, on the floor.  I was finally allowed to nurse him and everything just felt right.  My husband told me there was only one strange incident that happened once they arrived.  He told me Lafe did some sort of posturing with his body but it was chalked up to him being slightly uncomfortable with the hernia being manipulated.  I could handle that...or so I thought.

Later that day, I was trying to nurse him again.  He started to get frustrated and cried, then he stopped.  His entire body felt like stone, his hands were to his face, his body turned red, and he was grunting.  I had no idea what was going on.  My husband told me that was what he did earlier and we called for a nurse.  We were told it could just be a reflex or how he expressed his frustration and it was brushed off. Other than the weird incident and the still abnormally large testicles we were discharged.  Finally!  We could go home and Scotty could meet his brother.  It was an exciting day and we could finally start our life as a family of four.

It was the end of the week when we were discharged so we got to spend the weekend at home.  I snuggled my boys and we relaxed at home all together as a happy family.  On our second day at home, I noticed Lafe had a yellow tint to his skin that covered his face and stopped at his shoulders.  After calling the on call pediatrician it was determined he may have a little jaundice but due to his age, a whole 4 days old, the jaundice should have already peaked when he was in the hospital.  The on call did not worry so much as Lafe was going to see his doctor in the morning for a routine check-up.  I continued to enjoy my day with my boys and it was glorious!

The next day was our first real outing with our children.  We went to breakfast and then to the doctors office.  I pointed out to our pediatrician the skin discoloration and we were told that he may have a hint of jaundice but it did not look severe enough for any other treatment than lots of food to poop and some time in front of the window in the sun.  For precaution it was recommended that a sample be taken to check his bilirubin.  We did not even have to stay around for the results so after the appointment we made the 45 minute drive home and continued to enjoy our time together.  I just got comfortable in my room and started to nurse Lafe when my phone rang, it was the pediatrician which was odd but I did not think too much about it as it was probably our doctor reassuring us that the counts were fine.  Our doctor sounded panicked and told us to bring Lafe to the hospital immediately.   I was told his billirubin levels were a 22, I had no idea what that meant at the time but quickly found out that it was an overly high count and if it went up any further Lafe would have to have a blood transfusion.  Lafe's pediatrician apologized all over himself and told us if he would have thought for a second that he needed to be treated he would have told us to stay in town.  The doctor seemed very confused and told us in all of his years in medicine he has not seen a level that high with the few symptoms Lafe had. I was a mess, I cried so much I could barely tell my husband what was going on.  When I finally blubbered it out we were on the road heading to the hospital.

Once we were admitted, our nurse told me she would need to do an IV and start light therapy.  Lafe's hands were very bruised from the IV he had before so the next option was the head, lovely.  Nurse Trudy told me she would take Lafe to another room to do the IV so I did not have to watch him be poked.  When she returned with him, she advised me the strangest thing happened.  When she stuck him he got stiff and red and looked..well weird. Over the last few days we had seen those episodes a few times and nick named them his "Hulk episodes"  because that is what he looked like.  You wouldn't want to see him angry...and when he got angry he turned into the Hulk!  Nurse Trudy was not as easy to let it go as the nurses at Children's Hospital.  At this point an adult neurologist was called in to witness the events.  As predicted, the neurologist made him mad and he turned into the Hulk.  He told us that was probably not neurological and could just be a reflex, then told us when Lafe's levels went down we could probably go home..ah home that sounded nice.

The next day the physician team told us we could go home, I called my husband excited that we could finally spend some time in our own house and maybe we could enjoy the last three weeks of my maternity leave.  It was not that easy, Lafe had several more Hulk episodes and it was a growing concern, back to Children's Hospital we go.  It was around 2:00 a.m. before we all got to the hospital and the doctors were waiting for us with our little boy.  We described the events in great detail to the doctors and it was recommended Lafe have numerous tests conducted.  A blood test, a lumbar puncture to test spinal fluid, and a urine test followed by an EEG to see if there was any seizure activity.   The blood test was hard enough however the lumbar puncture was the worse.  We were told he would not have any anesthesia and they would place a needle in his back to the spine to collect fluid. My poor baby had known more pain in his short life thus far than happiness and joy.  

Later in the day an EEG was performed.  He had five Hulk episodes in one hour on video and while hooked up.  After he was taken off of the EEG monitor he went into a cycle of the Hulk episodes, approximately 20 in one hour and they were lasting longer and longer.  The nurses watched him and tried to help me calm him but he continued to do this until he fell asleep.  The good news was the doctors did not think he was having seizures, the bad news they did not know what was going on. They did know however he had a blood infection that was unrelated to the episodes and unrelated to the jaundice.  It was recommended we stay in the hospital for 10 days while they administered antibiotics.  After the 10 days we were free!  We went home again to our family and to spend that time with each other before I had to go to work.  

The next month was great, the Hulk episodes slowed down and Lafe appeared to be thriving.  He was eating good and he was looking good except for one small thing, he always looked to the left.  It did not concern me at the time as much as it did my husband.  Then we noticed small twitches in Lafe's hands and legs, it was brushed off by the physicians as normal movements and that was that.

At Lafe's next check up, our pediatrician noticed Lafe was not tracking with his eyes and the muscle tone in his legs was very stiff.  Our pediatrician wanted to refer him back to Children's Hospital as he suspected Lafe had Cerebral Palsy. That was a blow, we had been telling ourselves this whole time there was nothing wrong with our son and now this.  Our hearts were broken and we were lost.  It took several weeks but we finally got in to the neurologist, they told us they did not believe Lafe had Cereberal Palsy but something called Dystonia which was similar but sporadic. We brought up the twitches in Lafe's hands and legs but was brushed off again.  An MRI was scheduled to see if they could tell if Lafe had Dystonia and if so what was causing it. 

The MRI was completed and the results were in before we even got home, Lafe's brain was fine!  It was still believed he had Dystonia but it was a muscle issue and there were further testing that could be conducted to give us answers. The main thing was Lafe's brain was healthy and we could live with that. The next few weeks went by fine until one night.  I heard a thump in Lafe's bassinet, when I looked down he was rocking side to side and was stiff.  His eyes were rolled back and his little body was stiff, he was grunting and his tongue was shaking inside of his mouth. I picked him up and held him then I turned the camera on my phone.  This was different and new and above all, scary.  I didn't know what to do, apart of me had the doctors voices ringing in the back of my head that this was nothing.  I had been told this was nothing for the last few months and so what did I do....nothing but video it.  I stayed up all night with him afraid it would happen again.  The next day I called the neurologist who was treating Lafe and she agreed to look at the videos I made, they totaled around 3 minutes.  I received a call back shortly after and was told it looked like a seizure and Lafe would have to go to the hospital for another EEG.  A few days later there was an opening for an extended EEG. Lafe was scheduled for the EEG leads to stay on for at least five days. The technician put the leads on Lafe and he only had them on for an hour, during that time there was twitching and jerking in Lafe's hands and arms.  The technician was called out of the room by a doctor and she returned shortly after to take off the leads. We were confused because we were preparing to be monitored for around a week.  The doctor came into the room and told us a neurologist would see us shortly but there was no need for the leads to remain on Lafe's head.  

A short time later, our neurologist Dr. A came in to speak with us.  I will never forget what she told us "Mr. and Mrs. your son has epilepsy and it has caused developmental delay, he will probably not grow out of these types of seizures and he is having seizure activity even when he is not presenting physical symptoms".  It was another blow to the gut and the next question was why?  No one in our family has epilepsy, it was so confusing to us as to how our son has this condition.  The doctors didn't waste anytime getting us information and starting seizure medications right away.  We stayed in the hospital to make sure Lafe adjusted to the medication.  We learned as much as we could about epilepsy and found out that if the seizures were controlled it was possible that Lafe could catch up with his development. We started with First Steps to get therapies going, had a seizure plan that our family understood, and I was back to work without interruption for a period of time. Life was looking good for awhile, then he started having many, many different types of seizures and they were getting out of control.  I missed work without pay numerous times for hospital stays while we tired to get things under control with his medications.  This was an off and on thing, he would do so well for a few weeks then would regress.

It was an early spring morning, I just got Lafe up to feed him.  He was happy and had been seizure free for two weeks.  I was planning out how we were going to spend our saturday, my husband was finishing up a 24 hour shift at the firehouse and my oldest was still asleep. I fed Lafe and he started to doze off afterwards, he looked so peacful, and still, and blue, and he wasn't breathing.  I turned on the light and his entire body was blue and his lips were almost purple.  I started mouth to mouth with him, I tried to call my husband, dang the phones dead, then I called 911.  My first responder training kicked in and I was able to talk on the phone in between breaths.  After approximately two minutes he started breathing again. My husband called me, it seemed like a lifetime before he did but it was within minutes, and I couldn't help but cry while talking to him.  I have dealt with death, I have dealt with the dying, and I have dealt with severally injured and sick people before in my prior line of duty and never once winced at it but seeing my child turn blue and appear lifeless was too much for me.  The ambulance came and I rode to the closest hospital, the paramedic working told me that sometimes people stop breathing with seizures.  Not my child, he had never done that and no one prepared me for those types of seizures.  On our way to the local hospital he did it again.  On arrival he did it again and again causing the staff to administer oxygen and rescue medications for seizures.  Children's Hospital opted to fly Lafe to their facility and by the time they arrived Lafe was looking much better than he did when he arrived. 

Again, we made the drive to Children's Hospital to meet up with our little man.  The flight crew called us and told us he did fine in the air and was in the Pediatric Intensive Care unit.  When we arrived I expected to walk in the room and see my baby happy and waiting for me.  My husband waited in the parking garage for family to arrive and I went to the room to see our baby and wait for our family. When I walked in I was not greeted by my happy baby cooing and waiting for me...I walked into the room and saw a doctor with what is called a bag valve mask (a mask that has a bag on it used in place of mouth to mouth) giving my son rescue breaths and calling for help.  She informed me after he arrived he went from happy to not breathing on his own.  She couldn't get him to stop seizing and the medication they were getting ready to administer would make it impossible for him to breath on his own.  I was asked for consent to place a breathing tube and then asked to leave.  I was in complete shock and on the verge of a melt down.  Why was this happening to my child, my innocent child who had done nothing to anyone?  Well I found out why the incident happened, even though he did not present any illness my son had RSV, a severe upper respiratory infection and on top of it any illness triggers particularly nasty seizures.  My child had the breathing tube and was unconscious for seven days.  Prior to leaving, we were told this could happen when he gets sick and we were given oxygen, a monitor to keep track of his oxygen levels when he is asleep, and emergency medication to give him while we wait for an ambulance.  Also during this stay there were concerns presented about the cause of his seizures and the effect they were having on him, this included his vision.

We had several stays in the hospital after that day. Lafe would get sick, he would have a seizure and stop breathing and we would end up in the hospital.  Lafe took an eye exam and we were hit with another bombshell, Lafe has what is called Cortical Vision Impairment.  The doctors told us "Lafe's vision is like a computer, the hardware is there but the programs are not working".  Basically Lafe has perfect vision but doesn't process what he sees so he is essentially blind and the seizure activity makes his vision worse.  By this time we came to the realization that the medication was not helping Lafe and it was suggested we look at the Ketogenic diet.  This is basically a very low carb and high fat diet designed to make the body think it is fasting even though it is not.  It is shown to help reduce seizures and in some cases stop them completely. Our team also suggested another MRI and a PET scan be completed to see if there was damage to the brain and also to see where the seizures were coming from and if surgery could be performed in the event the diet failed.

First was the MRI which presented bad and confusing news that I am still not 100% clear on because I cannot find literature I trust to learn about it.  After the MRI, our neuro team called a meeting with us and another team who cares for children with critical illness.  The neurologist broke it down for us like this, "Lafe's brain was normal when he had his MRI in November, during the second MRI five months later, Lafe's brain is showing atrophy in numerous places, the brain tissue affected will not regenerate but due to his age he is still creating new brain cells, it is unknown if those cells will degenerate or not".  That was the biggest pill to swallow, there was no therapy, no medication,  nothing that could fix this.  It is a wait and see everyday what he can and cannot do and how this will affect Lafe's life. The team then told us Lafe's condition is compatible to Alzheimer's, except Lafe is a baby.  When we asked about how it will hurt Lafe's development, it was explained to us that Lafe's development is a lot like the brakes on a car.  Sometimes the brakes are not depressed and he will move forward swiftly with his development, some days the brakes may be depressed a little causing development to be slow, and some days the brakes will be completely depressed causing Lafe to not be able to move forward in development. At the time we saw the team, the brakes had been fully depressed for several months.  Lafe was not rolling, talking, seeing, holding up his head, or even reacting to us.  It was so sad to have this information and we feared that Lafe would always be this way. 

Next was the PET scan.  This was completed awhile after the MRI during a follow up EEG.  A PET scan is a scan of the brain after a sugary substance is injected into the patient and the substance draws to parts of the brain susceptible to seizure activity.  If there were only a few spots on the brain with activity a surgery could be performed to disconnect those areas in hopes to stop the seizures.  If there were too many spots, the only brain surgery option would be separating the left and right spheres from each other which would likely cause even more of a delay.  Lafe had hot spots all over his frontal and temporal lobes of his brain which control speech, mobility, and many other functions.  He also had smaller spots on numerous spots of his brain. As if we had not received enough bad news during this visit, it got worse.  I had been on leave from my employer to take care of Lafe until we could get more answers to what was going on.  At one time working from home temporarily was on the table but it was decided that was not possible.  I was able to obtain some shared leave so I could stay with my baby until we could find out what our next move was.  I was one month away from qualifying for FMLA. I got a call form my supervisor that I was denied any further shared leave and since I did not qualify for FMLA I had to either resign or come back to work on July 1. Lafe was still in the hospital and was due to be readmitted on June 30 to start the Ketogenic diet.  The only option I had at the time was to resign and hope for the best for our family. 

After months and months of waiting we finally found out Lafe's diagnosis.  He has Dravet syndrome which is a rare genetic disorder.  He has two mutations, SCN1A and SCN2A and it gets better.  The SCN1A mutation is what they call Denovo, meaning neither his father or I passed on the mutation and it developed on it's own, and the SCN2A mutation was passed on from me.  We were told Lafe is on the severe end of the spectrum of Dravet Syndrome and he is literally one of a kind.  Out of everyone who has had their genetic material checked, Lafe is the only one as of July 2014 that has both of these mutations.  We were told there could be others out there that have not been tested yet but he is the only one known to them at this time.  What does this mean for my baby?  It explains why he is not the typical Dravet child and they don't know how the combinations will affect him down the road.  It also means we have answers and we will not let this define our baby.  

It's eight months later, and a lot has changed with my little man.  Just after his first birthday he rolled with no assistance.  He is babbling, his vision is improving, and his personality is showing through.  He is still behind for his age but everyday he is making improvements.  He loves Barney and gets upset when he can't watch it or his therapist comes in the middle of a show and I turn it off.  He loves his brother with his whole heart and Scotty loves him back. His doctors are all impressed with the strides Lafe has made and we are so proud of him and his brother Scotty.  Scotty has been there for his baby brother from day one.  He is just as brave and just as strong and for a young child he understands more than he should.

We have had a great support system from our family and friends.  Prior to my decision to resign from my position with the state, our family and friends put together a charity auction and benefit to help us out with expenses.  It was a success and helped us out so much.  It truly does take a village to raise a child and our village was so generous and they still are today.  Not one person in our area does not know who Lafe is, he is not only handsome but very popular.

A quick recent update on Lafe before closing this long blong, he has only had 3 seizures in the last month and has managed to stay out of the hospital for the last 3 weeks.  Even though Lafe has been doing better, when he gets sick he has numerous complications besides the seizures. His last check up with his neurologist was about 2 weeks ago.  They have seen a big change in his demeanor and they are starting to see his personality as well. the only problem we have is Lafe has not gained weight in the last two months.  He had a bit of a stomach bug right before he went to see his doctor so they are going to give it a few months, if he has not gained weight we are looking at a feeding tube in his belly.

I don't know that all of my my blogs will be this long, but I wanted to give as much information as possible about our journey so far. In closing I do want to say this, I am a mom of a child with Dravet Syndrome, I am the mom of a sweet, loving, beautiful child who is a perfect fit for our family.  I was given this child to take care of and I will do whatever I can to protect and advocate for my guy. 

Thank you for reading the beginning of our journey.  I can't wait to share more about our family and our special kiddo.