My crash course introduction to Infantile Spasms

An estimated 8-10% of babies born with Down syndrome end up with a seizure disorder called Infantile Spasms (www.ndsccenter.org).There are around 6000 babies born with Down syndrome each year. So, 600 of those babies will also have seizures. Sadly, Eli is one of those 600. We confirmed yesterday that he has Infantile Spasms. The good news is that we caught it early – very early – so we can start aggressively treating the seizures.

It’s been an emotional week. Last Wednesday, the day after we got home from our most recent hospital stay, I noticed Eli was having what looked to be startle reflexes. But startle reflexes are a newborn thing and Eli is not a newborn. I had heard about Infantile Spasms from some of the mommies in our local Down syndrome support group. It was one of the things I prayed Eli would not have. The seizures cause developmental regression and mental impairment. You can learn more about Infantile Spasms here. I immediately googled Infantile Spasms and Down syndrome and knew with almost certainty it was what I was witnessing in Eli. Noah’s Dad (a popular blog by a dad of a boy with Down syndrome) had some wonderfully informative information (with video) on his site. Comparing the video to what I was witnessing in Eli, I just had that gut feeling (mother’s intuition) that this was serious. I had a bronchiolitis follow up appointment with Eli’s pediatrician, Dr. Partridge, on Friday. I mentioned my concerns. Thankfully, she took my concerns seriously and sent in a referral for an EEG at Children’s.

On Easter Sunday, Eli had 50+ little seizures/spasms within 5 minutes. It was terrifying. I texted Dr. Partridge and within minutes she was on the phone with the on call neurologist at Children’s (have I mentioned lately how much I love Eli’s amazing pediatrician?!?). He advised that they wouldn’t do an EEG on the weekend so, instead of ruining our day just to sit in the hospital, we should continue monitoring the seizures and try to enjoy our Easter (which we did, especially for Cody’s sake!). The neurology department called on Monday (after Dr. Partridge called them first thing in the morning to insist Eli be seen ASAP) to schedule an EEG and consult.

We went in for the EEG yesterday. Poor Eli did not like being kept awake the entire car ride to the hospital just to be told to sleep for the EEG then woken up to “perform” a seizure (which of course he didn’t do because babies and pets never do what you bring them into the doctor or vet for!). He also didn’t like having all of the electrodes ‘glued’ to his head! After reviewing the EEG, the tech spoke with the neurologist and informed me that “they had enough information” and “they didn’t need to witness a seizure” (I knew that wasn’t a good sign). We met with Dr. Gospe (the head of Neurology at Seattle Children’s) along with Dr. Beatty (resident/fellow) who informed us that Eli did, in fact, have Infantile Spasms. We discussed the three treatment options (injectable steroids, oral steroids, or a combo of anti seizure medication and vitamin B6). I had done my research prior to our appointment so I knew that children with Down syndrome have responded positively to treatment, especially the injectable steroid ACTH. I told them I wanted to treat this aggressively and hopefully be successful the first time. Many people try the oral steroids or anti seizure medications first and if that doesn’t work switch to ACTH. Since we caught these early, I want to stop them quickly – before too much damage has been done. Eli has currently showed no signs of regression. My hope is to keep his development on track. The doctors agreed that ACTH would be the right course of action to best treat Eli.

ACTH is a ridiculously expensive ($10,000 a vile!) drug so there are a few hoops to jump through before being approved to start the therapy. Eli is scheduled to be admitted to the hospital on Friday. He will be given the injection and monitored. Over those next couple of days we will be educated on how to inject him at home. He will get a once daily injection until the seizures stop. Once we have observed that the seizures have stopped physically for 4-5 days, he will be given another EEG. If that shows that the seizure activity has stopped in his brain as well, he will be weaned from the medicine.

We have been advised to expect weight gain, extreme puffiness, irritability, an insatiable appetite, and sleeplessness. Obviously, none of that sounds fun for Eli or our household. I have also been told (from other mommies) to expect the Eli we know and love to “disappear” for a month or two. One gal said she didn’t see her child smile for months! This is what saddens me the most. Our boy has always smiled through the hard times – that’s what keeps us going. I am taking a lot of pictures to reflect back on when we’re in the midst of this mess. I am scared but I know this is what will save him – save his future. We can get through this just like we have leapt every other hurdle we’ve encountered with our boy. He is certainly giving us a run for our money!

Being at Children’s yesterday we felt sad but very grateful. Grateful we have a support network that educated me on what to look for. Grateful for an amazing medical team who rallies around our boy and always takes this mom seriously – especially Dr. Partridge who never takes me for the crazy, overreactive mom that I am sometimes afraid I’m being. As she put it yesterday, I walked into her office and told her exactly what he had within 48 hours. Many doctors would not have taken me seriously. Luckily, we don’t have one of those doctors – we have Rebecca Partridge! I am grateful that we have a hospital like Seattle Children’s in our area to care for our children. Grateful for the awareness that it could always be worse. And grateful for the resiliency of my son. We already know he is a fighter. It’s now time for us to stand together and tackle this terrible thing head on. Just like we have always done. Just like we always will. Together.

Many people say to us “let us know if you need anything”. We don’t always know what to ask for or how to ask for it. But today I am telling you we need you. I am asking for your love and support. Eli needs your prayers. Our family needs strength. There is a Jewish Proverb that says I ask not for a lighter burden, but for broader shoulders. Chuck and I are staying strong for our family. We are carrying the burdens the best we know how. But each new setback weakens us. Your prayers, love, and support strengthen our family in ways I cannot describe. Please don’t give up on us – we need you and, most importantly, Eli needs you.

xoxo Melanie

Here’s a few pictures:

He is NOT happy about the EEG
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He looks so cute in the tiny hospital gown!
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Our beautiful boy and his amazing smile
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My Super Hero
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38 comments on “My crash course introduction to Infantile Spasms

  1. Oh, man. Hugs and love to your whole family. I wish we were not so far away. I’m letting out a deep breath for the fact that you caught it in time. Keeping you in our thoughts. β™₯

  2. The touch of one another, loving words, sounds of each others voice, power of family and hands of God will carry you all through these days. Eli you may feel cranky, or tired but cannot sleep, or hungry but never full and please know that during this time not only will your family be there to lift you up but the rest of us will do our part to lift them up. You have touched this world Eli and I am so thankful and blessed for your presence.

  3. Lifting prayers up for your family! You did catch it early and that’s encouraging. Know that I am thinking of you and your family and will support you any way I can. Hugs!

  4. My heart is breaking but you have 100% support from me and are always in my thoughts. You are amazing parents.
    Xoxoxo

  5. Wow I sit here reading your words and I’m reminded of sitting in the hospital waiting for that same Dx. My daughter has a severe head injury at 3 months and at 6 months got dx. Of infiantile spasms. We did ACTH also. I’m here for anything you need even if its just a ear to talk to. Please email me if you need to. Sending lots of hugs, prayers and love your way. ❀ Jennifer

  6. Melanie you guys are definitely in our prayers. It is so important that you caught it early. If Eli has shown us anything, it is his strength and I pray that you guys will continue to be strong and faithful. Eli’s little smile is beautiful and I know you will see it again.

  7. Praying for your precious baby boy! I have a son that just turned 3 in January who was diagnosed with IS. ACTH was one of the treatment options we chose as well. Wishing you all the best!!!

  8. Melanie…Sending you all the best that you need. Especially love to strengthen those shoulders and love to your beautiful Eli. Sue Scofield

  9. I hope the spasms stop soon. My daughter had infantile spasms at 6.5 months (but not Down’s) and the ACTH injections stopped the spasms after 5 days. I hear what you’re saying about the child you know and love disappearing for a few months, but it’s really not that bad. My daughter cried for most of the day the day after each ACTH injection but she was only on ACTH for 2 weeks, after which she went onto the oral prednisolone to be weaned off the steroids, and this made her less ill. Shortly after the spasms stopped, her personality completely changed for the better. Before the was 7 months old, she had never smiled or laughed much or done much eye contact and then she suddenly became much happier and more interactive. She didn’t even play with toys, she just seemed to be in a daze the whole time. It’s as if her brain hadn’t been working properly before and the ACTH balanced the electrical activity in her brain so that she could think straight for the first time. I hope Eli gets better soon.

    • Thank you for sharing your daughter’s story. I pray that Eli has a similar experience. It is so nice to hear the positive stories! I am glad she is doing so well.

  10. I’m sad to read this news, but he’s so strong he will pull through this as well! Sending live, support and prayers for you all.

  11. I hate that you all are having to go through this. I’ll be thinking of you and little man. I know it’s hard to be strong sometimes. We’ll be there for you on facebook whenever you need us!!

    • Thanks Crystal! It is so nice to have the support of so many of our new friends. The best thing about Eli’s Down syndrome is the awesome “club” we got to join!

  12. Hi Melanie,
    I don’t know you or your family, but after reading your blog entry through the IS Community, I feel like I know you – at least your struggles. Your words impress me so much. I hear your hope, strength and positivity through your words and it is inspiring. My son, also happens to have Ds and IS diagnosed at 7 months. You seem well versed in the tx and outcomes, feel free to email me if you’d like. Of course every case is different, but I would like to share with you where my son is at now at 2.5 years. He flatlined for a while (longer than the 3 months of ACTH tx) but really bounced back at about 4 months post-ACTH. I say, and his Neurologist even says “If I didn’t know his history, I’d never know that he had a seizure disorder”. !!! He goes to playgroups, walks, dances, climbs, wrestles; he feeds himself with a spoon, uses a cup, does puzzles; has friends (especially comfortable with girls), a great sense of humor, a dazzling smile; a dozen words or so (outstanding for a LO with Ds), 70+ signs, can get undressed… I know I’m bragging, but this list is impressive for a kiddo with Ds, let alone one who had IS. So please, keep up your hopefilled attitude and graceful words. Eli’s future is bright. Especially with the light of his momma shining.

    • Thank you for sharing your story Theresa! I am so encouraged by it. I will definitely email you if I run across any questions. Your son is an inspiration. He sounds amazing! I am glad to hear he is doing so wonderfully.

      Thank you again for reaching out to me and telling me about your son.

      Take care!

  13. Melanie,
    I think I hear in your last paragraph something I have been feeling lately. As you know, I had a double mastectomy in Sept, and since then have had 4 more surgeries to deal with the reconstruction, and the failure of the reconstruction. I will probably having another “repair” surgery in the near future, then I will have at least a 6 month wait before they attempt the reconstruction again.

    I feel like its old news and that people are getting tired of hearing about it. I have given good reports to people and now feel like I’ll be disappointing them if I have to tell about another surgery. Honestly, I feel like a failure myself. I know that’s silly but I am aware of this feeling creeping in. I honestly dread having to tell the people who were just recently rejoicing with me over what looked like success, that no, that last surgery didn’t help anything, in fact it’s going backward.

    My situation, of course is very different from yours, but I wonder if in addition to your own disappointment and discouragement regarding this new development that you might be feeling bad that you may be disappointing those who are supporting you. Yet, you have boldly shared your story and have asked for the support you need. Honestly, I have not been brave enough to do that, and I am proud of you for continuing to reach out.

    It sounds like you have a fantastic support community and I’m sure that other’s may have been this up and down roller coaster too and can shore you up. This is going to be a lifetime of ups and downs for you and your family and you need supporters who will be in it with you forever. This is what I want you to hear; Melanie, I know you, you are fun, intelligent, enthusiastic and most of all you are a compassionate and caring person who has already put in a great deal of your life energy, heart, and soul into helping others. It’s your turn for as long as it takes. People love you and are going to stick it out with you for the long haul. It’s your turn to be on the receiving end of love, prayers and support. Don’t ever let yourself feel unworthy or hesitant to keep telling your story, your families story, and Eli’s story. I love you, Mel!
    Aunt Nat

    • Aunt Nat,
      I am so sorry for all you are going through. You should never feel like YOU are disappointing people – they may be disappointed FOR you but not because of you. It totally sucks that you have to go through so much pain and repair. It doesn’t seem fair.

      Reaching out is very hard for me. This blog has been a Godsend in that I can ask for prayers, etc. for Eli and when I’m at my breaking point, I reach out for prayers for myself. It feels weird asking sometimes but it’s all I know to do when I’m at the end of my rope.

      Thank you for your love and support. Hugs and love to you!

  14. Sorry you’re going through this Melanie. Stay strong. You will all get through and get over it, and Eli will be fine! Sending prayers and hugs your way.

    Please feel free to reach out to me if you’d like to chat… I’m just a tad further along on this journey — my boys, identical twins with DS turn 8 next week — and though the specifics may vary, we are all in this together. You are not alone.

    • I am so sorry to hear that your son was diagnosed with IS. It’s horrible to watch your little one go through something so devastating. We caught the seizures early and Eli responded favorably to ACTH. After two weeks of injections, the seizures stopped. We continued ACTH for a total of 6 weeks at which point an EEG found that he is completely seizure free. He has not had a seizure since (knock on wood). After getting off the ACTH his personality returned and he started hitting milestones like crazy. He still continues to make great strides (though there are still some developmental delays because he has Down syndrome). Compared to some, our journey with IS was relatively easy. I hope the same goes for you! Hugs.

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