Understanding Infantile Spasms: Luci’s Story

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Image via the Miller Family and Angie Dixon Photography

 

Lucille Ann was born as a normal healthy baby. My pregnancy with her, though very difficult for me, was normal by all accounts. After 5 hours of hard labor, she was out in less than one push. She scored top marks on the APGAR, and was consistently above the curve in development. On June 13th, 2013 that all changed.

To be fair, it actually changed slightly before the 13th. I would say about five days earlier, I noticed her “startling.” She was five and a half months, and hadn't been startling for quite some time. I wrote it off the first few times. Then she started to do it a couple times in a row. On Sunday the 10th, I was able to get her to my husband so he could see them. He agreed we should take her in.

Looking at that video now, it seems SO clear to me, but at the time, we thought it could be hiccups, reflux, delayed moro (startle) reflex, or nothing at all. 

I made an appointment with our Dr. for a “well visit.” I had no idea what we were dealing with, if anything.  I decided to keep my phone with me and have it on video until I could catch something. The morning before her appointment I did. Looking at that video now, it seems SO clear to me, but at the time, we thought it could be hiccups, reflux, delayed moro (startle) reflex, or nothing at all. We went into the appointment and I showed the video. Dr K watched it four times. Intently staring. She finally said she needed to make a phone call. After that call, we had an appointment with Neurology the next day. My heart sunk a little

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Her advice to us was not to go on the internet. I listened. My husband did not. He sent me an article, saying, “I think she has Infantile Spasms.” Then he showed me some videos. It was pretty unsettling how similar they looked. We found more information than we knew what to do with. This was what we were facing:

Infantile spasms (IS) is a specific type of seizure disorder/epilepsy syndrome of infancy and childhood. It is characterized by spasms (often in clusters), possible developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (high voltage chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months, though it can show up as late as 2-4 years of age. The seizures can consist of: a sudden bending forward of the body with stiffening of the arms and/or legs; some children arch their backs as they extend their arms and/or legs (Extensor spasms); it can be a subtle as a head nod or drop. Spasms tend to occur upon awakening, falling asleep, or feeding (in drowsy phases), and can occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day, or much fewer. If they are not diagnosed and treated, they cause irreversible brain damage. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found. These cases are often labeled cryptogenic. In all cases, early diagnosis is key, and support from others who have walked the road is priceless.

understanding-infantile-spasms-lucis-story-2We went in the next morning and they hooked Luci up to an EEG to read her brainwaves. Our subsequent visit with Neurology confirmed our worst fear. Our beautiful, perfect baby girl had catastrophic epilepsy called Infantile Spasms. Her brain, instead of having a normal brain wave pattern, was a mess of high voltage chaotic patterns. Patterns that prevented REM sleep – which prevented progression and caused regression. Patterns that would inevitably cause irreversible brain damage if they weren't eradicated completely, and soon. The chances of that happening were slim to none. There was no support group they could recommend.

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We ended up in the hospital with a cryptogenic diagnosis (meaning they could not find a cause, genetic or otherwise). In her case, the best method of treatment was a medication called ACTH that came with a price tag of daily intramuscular injections, immuno suppression, lots of other nasty side effects, and $28,000 per vial. We went through five vials.

We were lucky. Luci not only responded to the treatment, she progressed developmentally throughout, even though they told us it would likely be as if the “pause” button had been pushed for her. She has been spasm free since June 20th, 2013 and officially Hyps free since August 14th, 2013. She continues to develop and amaze the doctors. Her body responded to the treatment. Many families are not as fortunate.

Infantile Spasms often goes undiagnosed or misdiagnosed for months, even years! Each passing day and each cluster of spasms (seizures) is time lost. Children with this form of epilepsy are often misdiagnosed with acid reflux, or a strong moro reflex. The reason? It is so rare, under-researched, and under-exposed.

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That is where Infantile Spasms Awareness Week, led by the Infantile Spasms Community comes in. We are a group of parents, caregivers, family and friends providing a place of community. We have people from virtually every version of diagnosis and journey in our community; there are many paths the diagnosis can take. We are here to help, support, and lend an ear. We are not doctors, nor are we pharmacists. We are not affiliated with any pharmaceutical company or organization. We are people looking to spread awareness, recognize our children for the strength and perseverance they show each and every day, and provide support to families who are facing and have yet to realize they will be facing this life altering diagnosis. We are intent on spreading awareness in the hopes that the families yet to face this diagnosis might catch it early, get it diagnosed, and have a place to turn for support.

Please, watch the video. Visit www.infantilespasmsproject.org for information on IS. Visit iscommunity.org for support and more information if you've received this diagnosis. Visit the Awareness week page on Facebook https://www.facebook.com/isweek

The knowledge you gain could help to save the future of a baby you haven't even met yet. One just like ours. Even one baby saved makes sharing our own story worth it. It is a private and difficult thing to share and it is worth every word.

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** Special thanks to our guest blogger this week, Aubrey Miller, mother to the adorable Lucille Ann. Her work to raise awareness about Infantile Spasms will mean great things for her daughter and for the many other children affected by this diagnosis. We're proud to support her efforts and encourage our members to visit her pages and share this information with friends. Thank you Aubrey and Luci for letting us share this part of your story. 

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Understanding Infantile Spasms: Luci’s Story

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4 comments

  1. Aubrey says:

    Update: Luci just had an EEG on Tuesday. Still clear of hyps, development is on track, and they expect it to stay that way! 🙂

  2. Emma says:

    At 6 months old our little boy was having tonic up-roll seizures in clusters. We didn’t really know what to do so we headed into the GP. Because they were continuous seizures the GP was able to witness them, and decided to send us to the emergency department. After several tests he was hooked up to the EEG which is when we discovered that he had hypsarrythmia. Subsequently he was diagnosed with cryptogenic IS. Liam underwent a number of other tests including a DNA array, that revealed a genetic disorder called Klienfelter syndrome. So, we treated the seizures with high doses of prednisone and vigabatrin and after a week the seizures slowed down until they eventually stopped.
    I would really like to know if anyone has had a similar experience and if the seizures have ever returned. Every time I look at my beautiful little boy, I wonder if he will ever have to go through that horrible experience again or if he’s been cured. Please share your story especially any other XXY (Klienfelter) kids. Regards, Emma

    • Aubrey says:

      I also just asked in the group. I’ll see if I can find someone to reply to you here. 🙂

    • Aubrey says:

      Hi Emma! I’m going to preface this with: I am not a doctor, just another mom on the journey. 🙂 It is SO great that Liam’s medical team was able to pinpoint the cause of the Hyps! I’m guessing that played a big part in their frontline choice of meds. It seems we all (anyone dealing with an IS diagnosis) have that nagging worry in the back of our heads. Sometimes, it’s more present. We were told that IS is much like cancer in the sense that the children go into a kind of “remission” and there is always a chance of relapse of IS up until age four. We were also told that after age 4 Luci was at a 50% higher risk of other epileptic disorders….just because she had IS. Having said that, we are hopeful we won’t face that. There are quite a few stories (most of which I heard this last week during awareness week) of children who go on to live normal and even exceptional lives. As one of my good friends once said “someone’s child has to be the miracle, why not ours?” I seem to recall someone posting specifically about Klienfelter in the IS community discussion group, and likely there is something on the forum. I would encourage you to join either or both. We have a vast network of parents with many different iterations of IS. https://www.facebook.com/groups/infantilespasmscommunity
      http://www.infantilespasms.com/forum/
      This is our generic page with links to all the presence we have online. 🙂 Thank you so much for commenting!
      I look forward to seeing you in the community!
      Aubrey

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