Here we go again: Tonic Seizures

Last week we took June to children's for an EEG because we thought she was having seizures again. It turns out she is having tonic seizures. These are different than infantile spasms. Doctors tell us they are not as catastrophic to development as infantile spasms, so we are taking that as the silver lining. But I'm still in the beginning stages of researching to learn what this seizure type means. The brain is so darn confusing! Right now, we are trying to get them under control with medication. Here we go on this crazy roller coaster again. Please send healing prayers/thoughts/vibes to June. She's already been through so much. She started a medication for her kidneys last week too and we are hoping that works as well.

Paging Dr. House

The Jessee family had a fantastic summer.  I can’t count how many times I said to Matt something along the lines of, “Can you believe that last year at this time we were in the hospital completely overwhelmed with fear and now we’re doing [insert some completely normal family activity here]?”  It was really wonderful.  We took June to the pool almost every week, we went on walks, we had play dates, and I even took her with me to run errands at the store. Life was good.  The highlight of our summer was our two-week road trip to DC, the Outer Banks of NC, and then Richmond, VA.  Matt and I met in DC, and we still have lots of friends living there, one of whom was getting married, so we decided to make a family vacation of it.  Before the wedding we saw some friends and after the wedding we went to the beach in North Carolina.  On our way home we stopped in Richmond for Matt’s grandfather’s memorial service.  It was so much fun.  June had a lot of first experiences.  First road trip, first taste of BBQ, first trip to the beach, first time touching the ocean with her itty bitty toes, she even got her first kiss from an adorable little boy named Baker (our friends’ son).  They were smitten. The best part was being together as a family without the constant reminder that something is wrong. While I am grateful for all the early intervention support June receives, it was nice to get away from the therapists and the doctors.

June with her first boyfriend, Baker

Pictures from DC

Outer Banks, NC

When we returned home, it was back to reality with appointments and therapy. While June is making many amazing developments and is so, so happy, she is now having some issues with her kidneys. The kidney problem came to our attention when June was weaning off ACTH.  While on ACTH her neurologists instructed me to check June’s urine for glucose several times a week, as spilling glucose into urine is a possible side effect.  The urine strips they gave me had other things to test for besides glucose including protein, microscopic blood, leukocytes, etc.  I, of course, tested for everything and noticed June had protein and microscopic blood in her urine that wasn’t there before. I didn’t know what that meant but I alerted her pediatrician, and he told me the sample was contaminated, and that I was doing something wrong.  I told him I didn’t know how I could continuously contaminate a sterile urine bag with protein or blood, but he assumed it was nothing to worry about. Finally, and I think only because I kept bothering him, he put me in touch with a pediatric nephrologist.  [As a side note, we’ve since switched pediatricians because I want to have a partner in June’s health care who trusts my judgment. This is the second doctor that has disregarded my concerns and turned out to be wrong. I find that disconcerting. Why are these doctors assuming I’m just an anxious mom? And even if I was, isn’t it better to investigate further to be certain? I keep asking questions until I understand, but what if I hadn’t? It makes me angry that I had to do so much for the doctors to take me seriously, but I digress.]

After meeting with the nephrologist we learned that June has proteinuria, which means she has excess protein in her urine.  Nephrologists quantify the amount of protein in a urine sample through a protein/creatine ratio. The normal amount of protein/creatinine ratio in our urine is less than .2.  June’s was 11. Yeah, that is high. We’ve monitored it every two weeks over the course of the summer and it has since gone down, but it remains very high signifying a serious problem with her kidneys. 

Our kidneys have many functions, but one of them is to serve as a filter or a sort of pasta strainer, if you will.  When kidneys function properly, they keep the nutrients in that our body needs (the pasta, or the protein, in June’s case) and they filter out the waste (the water, or substances we do not need).  At this point in time, going back to the pasta strainer analogy, it appears that June’s holes in her pasta strainer (kidneys) are too large and pasta (protein) is falling through the holes with the waste. Over time this can cause lots of problems to other areas of June’s body because she will loose valuable nutrients that her cells need to work properly.  The next step is to biopsy June’s kidneys to hopefully figure out why they aren’t working correctly.  This is challenging to do on a baby, but modern techniques generally allow doctors to perform the biopsy safely and effectively.  Unfortunately, though, a biopsy may not provide an exact answer to the question of what is causing the proteinuria, in which case, I am not sure what we will do.

What does this all mean and how does it relate to June’s overall health?  No one knows.  Is this a coincidence that June has hearing loss, brain issues, and now kidney disease? Probably not.  What is linking the three and are there other organs in her body that are affected? No one can say for certain. These are the types of questions Matt and I ask all of June’s doctors and no one — not a single doctor, can answer them.  One possible answer to all of June’s symptoms is something called mitochondrial disorder, which means there is some error in June's mitochondrial DNA (mtDNA) or within the mitochondria in the nuclear DNA (nDNA) that probably took place right after conception.  To put it simply, the "bad" DNA likely replicated and is in various cells in her body causing problems in different organs.  Doctors start to look to mitochondrial disease once someone has 3 or more organs with unexplained problems. This is not an easy condition to diagnose because we can’t test every cell in June’s body. For example, if we biopsy one cell in June’s kidney, it may be fine but the cell next to it that we didn’t biopsy may have problems.  It’s like searching for a needle in a haystack. In short, we can get a positive result, but we could never get a negative one.  I suppose it doesn’t matter though because unfortunately there is no cure for this condition and we can only treat the symptoms as they come assuming the symptoms are treatable.  We don't know for sure that she has this, but it is a scary possibility.  I’m hoping there is another answer to all of her health issues, one that is solved easily.

In other health updates, June’s brain is processing sound since her spasms stopped.  Before, noise wasn’t getting past the 8^th nerve in her brain and now it is.  She does have moderate hearing loss in her right ear and mild in her left.  It’s possible June could still have some processing problems in conjunction with the hearing loss, meaning she hears loud sounds, but she isn’t quite sure what to do with all of it or some of it.  I like to think of it as someone speaking to me in another language.  I hear the person talking, but I don’t understand what he is saying and talking louder isn’t going to make me understand.  So we have to help June learn to interpret what she hears. We are also using hearing aids and they appear to help her, but we are keeping a close eye on it at the same time.  In terms of her vision, the speed at which images go from her eyes to her brain is now within the normal range.  When June had IS, it was not.  However, the image is reduced. I am not sure what that means functionally and we are waiting on an explanation from the doctor, but I imagine he is going to tell me “I don’t know.”

I usually like to end my posts with something positive or some kind of encouragement for myself to hold onto, but I’m having a difficult time doing that right now. The truth is I’m tired.  I’m tired of hearing “we don’t know” from doctors. I’m tired of all the appointments.  I’m tired of all the tests and procedures.  I’m just plain exhausted in every sense of the word.  In my last post I said anything from here on out we can handle, and I know we can. I just don’t want to.  I want to go back to those two weeks on vacation where Matt, June, and I were a “normal” family, doing “normal” family things, without weekly trips to the children’s hospital. At the same time, I want someone to tell me what is causing all of June’s problems. I want a medicine or a procedure that will make her organs work properly. At the very least it would be nice to have a diagnosis that could tell us what the prognosis is.  I want Dr. House and his team of doctors to sit around a whiteboard, crossing ideas off and eventually diagnosing and curing our Juney, but I can't find him.  He only exists on TV and that just stinks.  The main thing that keeps me going is June’s smile and her sweet giggles.  At this point she isn’t in pain and I just hope and pray that June’s kidney problem is something that can be treated.  Thanks for reading.  Getting my thoughts out on this blog helps me process all the moving parts in a way that I can understand and it helps having your support. As always, we will write an update when we know more. 

You Are A Gift From The Heavens

“I don’t see anything that looks like spasms,” Dr. Thio said to me with excitement. Randomly, I ran into June’s neurologist on my way to the restroom during June’s EEG appointment.  I told him June was in the EEG room if he wanted to say hi.  In the back of my head I was hoping he would take a peek at her EEG and give us a real-time reading. And he did.  He said he needed to take a look at the whole report, but from what he saw on the screen, June’s EEG looked good.  Thank God I ran into him, I thought.  I wouldn’t want to wait to hear that fabulous news!

After further review of that EEG and an additional 24-hour EEG study, Dr. Thio has confirmed that June is no longer having infantile spasms or any other seizure activity.  I’ve dreamed of writing those words for the last year, and I am never going to stop cherishing them.  It is a miracle we found a medication that worked after so many others had failed.  So what did it, you ask? We think our miracle drug was Topamax, a seizure medication also used to treat migraines in adults, but it could have been a combination of treatments.  Here is a little bit of the back-story.  

My last post was right before June started ACTH.  I didn’t write while she was on it because there wasn’t much to report besides all of the nasty side effects of ACTH.  I also wanted to see how it all unfolded before writing an update.  Things seemed to change on a daily basis, so I didn’t want to write one update then write something completely opposite the next week.  That confuses me and makes me realize how up and down our lives are.  Needless to say, it was a bit of a roller coaster ride and sometimes you only have energy to sit back and just go with it.  Only when you get away from it, can you understand what you’ve been through. 

On ACTH, June gained 6 lbs. in a month, which was a third of her bodyweight.  It was like living with the Very Hungry Caterpillar.  The drug also made her irritable and uncomfortable.  Towards the end of the treatment, she slept most of the day and night because it was difficult for her to do anything else.  Even her breathing became labored while resting.  It was not fun, and it was difficult to watch, but it wasn’t as bad as I had anticipated.  When I look back at it though, I wonder how we got through it, but we did.  Thankfully, we had a lot of help from family and friends, and we also had home health nurses to check on June a few times a week. Other side effects of ACTH include high blood pressure and suppression of the immune system, so the nurses kept an eye on those issues as well as June’s overall health.  

After two weeks of the ACTH treatment, June had an EEG, and it showed she was still having spasms. I was not surprised because we were still seeing seizures, but there was a dramatic reduction in the amount she had daily.  I knew that didn’t mean much though.  As I’ve mentioned in other posts, with IS you have to stop the spasms completely; it’s not about reducing seizures.  Most of my life I’ve struggled to combat all or nothing thinking, and now I’m dealing with an illness that is really all or nothing.  There are no “shades of gray” with IS, how is that for irony? 

When the spasms hadn’t stopped, we decided to keep June on the high dose of ACTH for another two weeks to make sure we gave the drug enough time to work.  Two weeks later, the EEG still showed spasms.  This time I was really disappointed.  We stopped seeing seizures at this point, and I was sure that ACTH had worked. But all that matters is what the EEG says, and spasms can be so brief that it is difficult to see them.  It was time to move on to something else. The ACTH wean would take a little over a month, so we decided to start Topamax concurrently.  

When I left the hospital that day, I felt defeated.  June had already tried 8 medications, and we were now moving toward medications that statistically weren’t as successful as the ones we had already tried.  I was happy that there were still options, and I was hopeful it would work, but realistically I didn’t think it would.  “Stay optimistic,” I said to myself, “but it’s time to accept that June will likely have seizures for the rest of her life.”

About a week later, we still didn’t see seizures.  We thought she was still having them, but we were unable to notice them like Dr. Thio had explained.  Something different started to happen though.  June was alert, responding to noise consistently, and she was really looking at us.  We could calm her by holding her when she was upset, which was totally new for us.  She just seemed like she was seeing the world for the first time.  I’ve talked about her big personality fighting to come out of her small body, and it really was.  Whereas before we saw bits and pieces of her come out for short periods of time, now we see her all day long.  I imagine her saying, “Mommy, I know it’s been you all this time. I know you’ve been reading, singing, and talking to me.  Even though it seemed like I didn’t realize it, I did.  I knew your mommy hugs and daddy’s kisses. I knew.” 

So a month after starting Topamax, we had another EEG and that’s when we got the good news that June wasn’t having spasms.  I didn’t cry tears of joy when the doctor told me.  One would think that I would, but I didn’t.  I do cry when I see June do new things though.  When she started opening her hands and hitting the toys in her gym, I cried.  When I went to Target and first bought her a toy at 14 months that I knew she could play with, I cried.  When she gives me a smile that I now know is meant just for me, I cry.  When I reflect on all we’ve been through this last year, I cry.  When I think of the babies and families I’ve met through support groups or in the halls of Children’s Hospital, I cry.  Most importantly, when I think about the outpouring of support from family, friends, therapists, doctors, nurses, EEG technicians, and people we’ve never even met, I cry. Those things mean so much more to me than what the EEG says. 

I do realize the clean EEG is the reason June is making big strides, but I’m deciding to not let the EEG run our life.  I also know it is easier for me to make that comment on this side of things.  If someone had said that to me a few months ago I would be saying all sorts of curse words about him or her in my head :).  But, it is an important concept for me to emulate because the spasms could come back, and June is at risk of developing other seizure types. I can’t live my life scared of the next EEG.  And believe me, if left to my own devices, I could wrack my brain with fears and anxieties that would debilitate most moms.  So I don’t. I choose to let it go, and the funny thing is, I actually do.  The person I was before June would never have been able to let things go like I do now.  I stop as soon as I spiral.  I tell myself to enjoy these moments and if June’s seizures come back, we’ll handle it.  I’ve already been through something I never thought I’d be able to do.  Anything else from here on out, I can handle.

What an amazing teacher June has been to us all.  In closing, I want to share a poem that another mother shared with me. I think it sums up June and our journey over the last year. 

 I believe that God sent you into my life 

to give me something to fight for, 

to show me there is love in this world, 

to give me hope and to bring me joy, 

all the proof in God I need is in you, 

you are a gift from the heavens.

We know we are not in the clear, and we still have a long road ahead of us, but we took a huge step in the right direction.  Thank you so much for your continued prayers and support.  

Next Step: ACTH

June had an EEG on Monday morning, and it showed no real change since we started the diet.  As you can imagine, Matt and I are disappointed.  We knew her EEG wouldn’t be normal because we have seen her continue to have spasms, but we’ve seen such a dramatic improvement in June’s awareness and temperament that we believed we would see some corresponding progress on her EEG.

However, I realized the moment the technician turned on the EEG machine that her EEG had unfortunately not improved.  I understand it takes years of medical school and training to learn how to read an EEG, but as soon as I saw the large spikes, and disorganization on the screen, I knew June’s brain was still in a state of chaos. Later that night, her doctors called and told us what we already suspected, that June is still having spasms and the diet is not controlling them. After the doctors went through our options, Matt and I decided to start weaning June off the diet so she can start ACTH, which is the frontline medication to treat infantile spasms. You may wonder if ACTH is the frontline medication for IS, why didn’t we start June on it in the first place?  I ask myself that question almost everyday, and it is one that haunts me in the middle of the night. The first reason is because ACTH has dangerous side effects and risks, the main one being a compromised immune system. While on ACTH, a common cold could send June to the ICU. Second, June was only 2 months old when she was diagnosed – most babies are diagnosed around 6 months – and the doctor we had at the time advised us that it was too risky for a baby her age. He told us that we could do a daily hormone injection, which is dangerous with lots of potential side effects, or an oral steroid, which is much safer and does the exact same thing as ACTH. We, of course, chose the safer drug to start. We now know that statement is not entirely true. Studies show that prendisolone is comparable to ACTH, but there are babies who do not respond to prendisolone that go on to try ACTH with success. Additionally, at that time of diagnosis, we didn’t realize how serious IS was for June. In fact, I didn’t even know June had IS until we saw a different doctor for a second opinion. Our first doctor kept referring to them as “spells” and didn’t do a good job of explaining the condition to us. In fact, I remember saying to him, “Oh, June has seizures?  No big deal. The Supreme Court Justice Roberts has epilepsy and look at all he’s done.”

If our first doctor had explained June’s condition to us the way her current doctor has, I think we would have done ACTH to start.  Once we switched doctors and realized the oral steroid did not work to stop June’s spasms, we thought we needed to try a different kind of drug because it was important to get the spasms to stop immediately. We didn’t want to waste time trying another drug in the same family as a drug that didn’t work. That’s why we tried Vigabatrin next.  By the time we realized Vigabtrin wasn’t working, flu/cold season was upon us and we were scared to try ACTH at that point because it seemed too risky, so we decided to give the diet a try until after flu season.

As I write this I can almost hear Matt saying to me, “Genny, you don’t need to defend yourself.  We did the right thing based on what we knew at the time.”  Logically I know he is right, but I feel guilty.  I feel like I let June down because here she is eight months later still having spasms. Before having a baby, I heard sayings like, “parenting doesn’t come with a list of instructions“ or “you will make mistakes. It’s a given.”  But I thought the types of mistakes we would make would be closer to which grade school June attended or if we challenged her enough. I wasn’t expecting to make major life or death medical treatment decisions. I thought if a bad situation arose, the doctors would tell us what to do because I thought doctors knew everything when it came to medicine, at least any of the medical conditions I thought June would face. I can’t tell you how frustrating it is to sit in a room with really smart doctors, some of the best in the country – asking them which treatment we should use on June and they tell me they don’t know. I might as well live in an era before penicillin because that is how crazy it feels. They tell me what they know, which with infantile spasms is very little, and then Matt and I are supposed to make a decision.  I guess this is what everyone meant when they said there is no instruction book for parents. Gosh, I wish there was. Not just because I love following directions – it brings me comfort to have step-by-step lists of what to do in all new situations, but because I would feel less guilty about making the wrong choices.

As I mentioned, before we start ACTH we must wean June off the diet. It will take 3 weeks to wean, and then we will start ACTH as soon as the doctors say it is safe. I’m scared about the wean because I don’t want to lose all the progress we’ve made with the diet.  But the doctors say if ACTH works, it will give June a much better chance at developing. Once June is on ACTH, we need to be very careful since her immune system is suppressed. We won't take her anywhere and we will have to limit her visitors. I'm told we should be able to tell if ACTH is working about 2-3 weeks after we start, but then it takes about a month to wean her off the steroid. The doctors say June's immune system will be compromised about 2-3 months after she is off the drug, so we will keep June isolated for about 3-4 months at minimum. If it is working it will be even more extensive because she will be on the drug for a longer period.

This was a difficult decision for Matt and me to make, but we decided we had to try it.  If June had cancer, we wouldn't hesitate about doing chemotherapy even with all the nasty side effects. Besides having a suppressed immune system, June will likely be very irritable and uncomfortable on ACTH.  Another mother told me that the hardest thing was not seeing her baby smile while on it.  If that is true, that is going to be so difficult for us, but I know she would want us to do this. She would want us to do everything we can to help her. I can see that in her eyes as her big personality is fighting to come out of her little body. I am sure it will be harder on me to watch her uncomfortable than it will be on her.  As I explained this decision to my friend Emily she said, “sometimes we have to be bold to make any real change.” What she said made me think of the quote, “Be bold and mighty forces will come to your aid.” I have to trust that we are doing the right thing for June even though this is going to be a hard and difficult few months and God will send us assistance to help get through this time. 

Thanks you all for your support. We really feel it more than you know. 

Our Hero

So much time has gone by since my last post that I don't even know where to begin.  With the holidays life got hectic, and I put off writing about June.  I have a list of blog topics I planned to write about, but today I will just stick with an update on June. Overall, she is doing pretty well on the ketogenic diet and is tolerating it well. Although she continues to have seizures daily, they are not as frequent as before we started the diet.  A few weeks ago we switched from a breast milk, olive oil, and soy formula mixture to a strictly powdered formula. Since switching to the formula, we have seen a big improvement in June's development and a decrease in seizure activity.  We think the problem with the diet before was that we weren't entirely sure how many carbohydrates were in my breast milk - it can vary. So while we thought June was on a 4:1 ratio, we were not certain.

Some of June’s accomplishments over the last few months are listed below.

•  June mimics us and is making different sounds.  This makes us optimistic because it shows she is taking in information, processing it, and then sending it back out.  Her neurologist was particularly pleased about this.
• Her head control continues to improve.
• She can lift her head and look side to side when she is on her tummy.
•  She can stand in her bouncer for short periods of time. She needs assistance to make sure she does not whip her head from side to side, but she is improving.
•  When I hold her she is starting to push off my chest and look around.
•  When she sits supported on my lap or against the couch she is able to keep her head steady for longer periods of time.

• She is more aware of her surroundings and is easily comforted when Matt or I hold her.

•  She loves her bath whereas before she would cry the entire time.

• She calms to music, especially Ella Fitzgerald & Louis Armstrong.  Her favorite song is "Isn't It a Lovely Day." She is also a fan of Jack Johnson, Nora Jones, and Otis Redding.  Random I know, but their voices calm her.

• She is tracking objects more smoothly and consistently.

• June sleeps for longer periods of time, and we are trying to wean her off her swaddle.

I would like to take a moment to point out how huge it is that June has made so much progress.  I don't always fully appreciate how difficult it must be for June to grow and develop given all the chaos in her brain.  I recently came across a blog post from another mother of a baby with Infantile Spasms where she showed a picture of a baby's EEG with Infantile Spasms and a picture of an EEG from a baby without Infantile Spasms.  I thought it was extremely powerful, so I am going to borrow from her post to show you the difference.

This is a picture of a normal EEG.  Notice how it is pretty and organized.

This is a picture of an EEG pattern consistent with Infantile Spasms.

Given how unorganized the activity is in June's brain, the fact that June can mimic us, lift her head, respond to music, and differentiate between Matt and me is truly amazing.  We are so proud of her.   I know I've said this before but I'll say it again. I am in awe of our June.  Since she came into this world 8 months ago, her personality has been fighting to come out.  And she has managed to do it.  I sometimes wonder that if I was fighting the same illness, could I be as strong as June?  She must get her determination and tenacity from her Daddy because I am quite certain I would want to give up.  All of our babies with IS and other forms of epilepsy deserve a round of applause because they are in all senses of the word heroes.

June in her bouncer.