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. 

Fight On

We just finished our meeting with Dr Chugani who was helpful in answering our many questions about June.  After reviewing her PET scan and EEG, he said June is not a surgical candidate because her seizure activity is diffused throughout her brain.  In other words, there is no epileptic focus to remove at this time.  The nature of her epileptic activity leads him to believe that June most likely has a genetic disorder.  This could be caused by a spontaneous mutation, something I may carry, something Matt may carry, or something we both carry.  As I've mentioned, Dr. Chugani is a pioneer in research of infantile spasms, and he is leading a study on the role genes play in infantile spasms.  He asked us to participate since he is able to test all three of us.  We are hoping the test will give us more answers in addition to the genetic testing done on June this summer.

Dr. Chugani also talked to us about his recommendations moving forward.  He thinks June should go back on Vigabatrin – one of the frontline medications used to treat IS, for a longer period because of the improvement she showed on it.  If that does not work, he suggests we then try the ketogenic diet.

June has been so brave during the tests.  She keeps smiling and laughing and stole the nurses' and doctors' hearts.  They were smitten with her, but how could they not be?  Thanks for everyone's thoughts and prayers.  Your messages and comments have helped Matt and me to stay strong.  We are so blessed to have such an amazing support system. We will continue to fight on for June.

June on her first plane ride to Detroit

Summer of June

June Corley Jessee was born on April 29, 2012 at 6:28pm.  She was 8 pounds 9 ounces and 21.25 inches of pure love.  As with any mother, June’s first few moments in this world will be forever imprinted in my brain.  I remember how June’s skin felt against mine when the doctor placed her on my stomach after delivery.  I remember the sound of her first cry, and I remember how proud and happy my husband was as he cut the cord, took June’s first pictures, and told me her weight and height.  I also remember how blessed we felt as we looked into her beautiful blue, almond shaped eyes.  It was by far the best day of my life. 

Today, I have even more love for June than I did on that rainy day in April, but it is a love that also comes with worry, fear, and desperation.  This summer, Matt and I have taken June from doctor to doctor, hospital to hospital, specialist to specialist.  At first she was diagnosed with "Auditory Neuropathy," a type of hearing loss associated with how the brain processes sound.  Then, when June was a little over two months, she started having Infantile Spasms "IS," a catastrophic form of epilepsy found in babies.  One of the biggest challenges with IS – and there are a lot – is that there are many, many possible underlying causes. This means there are many, many possible outcomes.  I'm told you will see families with children who are struggling greatly, as well as children who have made tremendous progress. Another mother warned me not to compare June to other children with IS and try not to get too hopeful OR too fearful from the stories I’ll read.  

Now, we are focused on figuring out why June is having Infantile Spasms.  She has already been through so much including an MRI, a spinal tap, many EEGs, eye exams, a VEP and several blood and urine tests.  So far all the tests for underlying causes have come back negative, but we are still waiting on the genetic test results (there are about 30 genetic disorders that can cause IS).  At the same time, we are treating the spasms aggressively. So far, we have tried six different medications and while June has stopped exhibiting outward signs of the spasms, the EEG shows that June is still having abnormal brain activity indicating spasms.  June’s neurologist told us that it can be difficult to tell when a baby is having spasms and often the only way to tell is through an EEG.  He also said that unfortunately it is an all or nothing proposition.  June could be having 1 spasm or 100 spasms a day and the concern would be the same. Unlike other forms of epilepsy where the goal is to control seizures through medication, the objective with infantile spasms is to stop them completely so that brain activity can return to normal.  Only when the EEG is normal, can a baby begin to develop normally.    

Next, we are taking June to Dr. Chugani at Children’s Hospital of Michigan who is the foremost authority on IS so that he can evaluate her for surgery.  In the meantime, we are trying different medicines and hoping we will find our miracle drug.

Please keep June, Matt and me in your thoughts and prayers.  I've been amazed at how brave June has been over these last five months through all the tests, doctors, and medicine.  Through all of this, she still smiles, laughs, and squeals.  She is a happy baby even after all that she’s been through, and we can all learn from her strength.  I know we will get through this, but we need your continued prayers and support to help us.