Thursday, October 18, 2012

Day 18: Infantile Spasms Guest Blogger #2

I don't really think we can get enough of this topic.  Infantile spasms.  As rare as it is, it seems to affect so many within the Down syndrome population.  Knowing how to identify IS and knowing what resources are available, are critical with this condition.  I'm so happy to present today's guest blogger, Tiffany, of Discovering Joy, whose daughter, Danielle, is beautifully enhanced by Down syndrome and cruelly plagued by infantile spasms.  Here's her story:

Looking back at this period of time that was so difficult for us has my mind reeling. A downward spiral in to a dark place I hope never to return to. A place where there was so much sadness and stress and worry; a debilitating worry that was almost more than I could bear; constant, crushing, worry. When Danielle was born with Down syndrome I made a conscious decision not to spend my time worrying about the future. Our present-time was wonderful. We had a brand new baby girl. So soft and new, the sweet fragrance of a newborn was enough to slip me in to a blissful repose. That blissful moment in time was ripped away from us as infantile spasms shocked me into an immediate state of vigilance. Not all was well. Our present wasn’t ok anymore. I watched as my daughter suffered through uncontrollable seizures. They would come again and again. I held her tight as I swayed with her and told her repeatedly that everything would be ok. There was nothing else I could do. I couldn’t stop them from coming. The feeling of helplessness was torture. The seizures were relentless, happening every time she woke, and often after feeding. Every ten minutes during her naps I went to her room. I went to her room fearing that she was seizing. I knew the seizures were causing her discomfort and anxiety. I didn’t want her to suffer them alone. She slept with me at night. I would wake to her tiny body jerking involuntarily. I couldn’t stop it, but I did my best to comfort her. The seizures continued through different drug treatments. Each time we tried a new drug or increased her dose I had a renewed sense of hope that the seizures would stop. Each time I crashed back down in to my dark place as the seizures prevailed. Time was our enemy. As the seizures continued Danielle’s condition worsened. She stopped smiling, there were no more coos. She started turning her head back and forth repeatedly, a behavior that continued throughout much of the day. She seemed so incredibly far away from us at this point. We were losing her. It was happening right in front of us. We were losing her and we were helpless. I have never in my life been so desperate.

Danielle’s diagnosis of infantile spasms came three days before her heart surgery. The procedure that had been haunting me for months suddenly became something that I was looking beyond. I was anxious to have her repaired so we could get a handle on the seizures. I understood what the surgery would consist of. I knew that the success rate was very high. I knew she’d be ok. I didn’t know, however, how infantile spasms would affect her, or how she would respond to treatment. The doctors didn’t have much optimism when they talked about outcome. I found myself praying for Danielle to have Down syndrome… JUST Down syndrome!

After failing Topamax, Prednisone, ACTH, and a high dose B6, we finally found Danielle’s miracle drug, Vigabatrin. She has been seizure free since May. As soon as the seizures stopped, she started coming back to us. She was smiling again. Her coos were like heavenly hymns. She was interested in her toys again and engaging with us. The dark clouds parted as our bright smiley girl emerged from the clutches of the monster that is infantile spasms.

I don’t compare Danielle to her typical peers anymore, like I found myself doing in her first few months. I know we’ve been given a gift in this child. She is a beautiful soul. She has been through the unimaginable and still finds it in her heart to be joyful. So joyful! Her spirit is radiating, it reaches in to my soul and awakens parts of me that I hadn’t even realized resided there.

While it is very emotional for me to re-visit this time that was so difficult for us, I have to talk about it. Maybe you’ve heard “infantile spasms” somewhere, or you’re aware that children with Down syndrome have a higher risk of developing seizure disorders, but you might not realize how subtle these clusters of spasms can appear to be, or how damaging they are. It is imperative that IS is treated right away. The first time Danielle had a seizure, as I held her in my arms, I wasn’t really sure what was happening, if anything. My mind raced back to a video I had once happened upon in an online forum of a child having an episode. It was like, immediately there was a flag that went up, an alarm that sounded. I honestly don’t know how long Danielle would have gone undiagnosed if I hadn’t had that video stored in my mind. These videos can be hard to watch, but I want to share them with you.

Here is a video of Danielle were you can see some subtle spasms. Spasms at 0:01, 0:12, and 0:28

Here she is during her first EEG, the spasms are much more noticeable here.

If you find yourself facing an infantile spasms diagnosis, you need to become your child’s advocate. You might find, like I did, that no one will fight harder for your child than you will. If your pediatrician is lagging on looking in to suspicious behavior, push them. I was ready to head to the emergency room insisting an EEG had my daughter’s pediatrician not been willing to have her admitted right away (which she did). If you are not confident in your neurologist, don’t be afraid to get another opinion! Don’t forget that your doctor works for you. If you can’t get an appointment from the front desk, stalk the doctors’ nurse for an opening. Seek out an epileptologist, or a neuro who has experience with infantile spasms.

Please, check out this inspiring woman. She’s the mother of a child who currently battles infantile spasms. She is getting ready to run the Marine Corps Marathon on October 28th, in effort to raise awareness of Infantile Spasms, and to raise money for much needed epilepsy research. Let’s cheer her on!

She knows too well, the guessing game that is moving through the list of AED’s hoping one will work. There are children who are suffering now that could benefit greatly from new research.

Here is her story.

Maddie's Marathon

Please visit her donation page, if you feel inclined to do so.


Anna Theurer said...

Thank you so much for sharing Danielle's story. I can only imagine the pain and the fear. Ellie's best friend was diagnosed with Tuberous Sclerosis after he had uncontrollable infantile spasms and now epilepsy. I remember when, at 4 months, his mother was emphatically telling the doctor that he was having seizures. The doctor didn't believe her. She fought for that EEG and eventually the spasms led to a darker diagnosis--Tuberous Sclerosis. Again, thank you Tiffany for sharing your story as well as those videos of your daughter.

Lisa said...

Amazingly difficult - thank you for telling your story.

Heather said...

Thank you for sharing ... one Infantile Spasms mom, to another. the journey can only be understood by those that have traveled it. such a dark time. I too, wondered why Zoey could not 'just have Down syndrome'. She had just finished her recovering from her AV canal repair. We had just settled into accepting out tiny girl had suffered a debilitating stroke and we had just gotten into the groove of life when IS hit. Her diagnoses found me in my pj's for a weekend straight. Angry and bitter and then, I looked at her and thought, she hasn't given up, neither will I.

We know Liz and Maddie well. We traveled the road at a similar time and both of our girls had leukemia. Maddie's before IS and Zoey's after.

They are an inspiring trio that little family.

Again, thank you for sharing your journey.

Anna said...

We helped a family given guardianship of a little one that developed IS, sitting in a rocking chair for days on end,they adopted her and we started looking for our new daughter and found Grace. It took almost two years to get her home and only a few days past our two year "gotcha day" anniversary she developed epilepsy. I still shake my head wondering how this came full circle. We still haven't found "the drug or combination of drugs" for Miss G but we are close. IS and Epilepsy, not for the faint of heart.

Lacey said...

Wow those videos looked familiar! Our IS road was very different because Jax had multiple other types of seizures as well, not just IS. So just fighting seizures in general seems to be an ongoing, ever changing challenge! What a sweet baby girl!!

Anonymous said...

Thanks so much for the shout out! Danielle is so precious! I hate epilepsy and hate the way it steals our children's smiles!

I am so glad that you found Danielle's miracle drug and that she came back to you. I hope and pray that day will come for us. Thanks for writing such a great post bringing attention and awareness of this ugly disease.