Stopping the seizures – Day 4

We are home. I have given Eli the ACTH injection the last 3 days (one at the hospital, two at home). It is terrifying, as a parent, to stick your child with a needle knowing it will cause him pain – but, I do it because I know it will save his brain. Each time I’ve ended up in tears. In fact, I think Eli cries less
than me. He cries at the initial poke and then throughout the injection of the medicine. But when I pull out the needle and put on the bandaid I swear he smiles at me. It’s as if he’s saying good job mommy. Bless his heart.

Speaking of hearts – it has been 11 weeks since his was repaired. In fact, it was confirmed that he had Infantile Spasms exactly 10 weeks post open heart surgery. Throw in a week in the hospital for Bronchiolitis and that leaves a little less than 9 weeks, 9 very short weeks, that my sweet boy has been healthy. That just doesn’t seem fair! He has faced an uphill battle since birth (actually his battles started before birth!). At the beginning, he had to fight to breathe and eat. Now he fights the deterioration of his brain. I am so thankful his heart has already been repaired. A healthy heart gives him more strength to fight the seizures. I just wish he didn’t have to face one more obstacle. I wish I didn’t have to inject him with $30,000 medicine each day (which, thankfully insurance covers most of). I wish I didn’t dread when he wakes up because usually he ends up having a seizure. I wish I didn’t feel so defeated, only 4 days in. I wish the medicines (he’s on five!) would just fix him already. I wish my husband didn’t have to go back to work, leaving me to do the injections by myself. I wish Cody didn’t wake up each morning and ask in a hopeful voice, “Eli all better?”. I feel like we are missing out on his baby days. Instead of watching for milestones, we’re watching for seizures. Someone told me at the beginning of this journey that when you have a baby with Down syndrome the first year is the hardest. I didn’t realize it would be this hard. When Eli was diagnosed with Infantile Spasms it was like hearing he had Down syndrome or a heart defect all over again. We finally “get over” one thing, just to have to deal with another. Sometimes I find myself wishing things were the way they once were. But then I realize that would mean life without Eli. And I obviously don’t want that. I just wish things weren’t so hard for Eli, and for us as a family, right now.

I know things could be worse. I follow the stories of a few children who are far worse off than Eli. Two of those children have never even been home from the hospital. I constantly try to keep this in perspective. But, this is our life and I’m entitled to a few bad days. I am baffled as to what lessons I am supposed to learn from the struggles of my child. I try to remain inspired by his resiliency. But today is just a bad day. And I’m going to entitle myself to a few of those. I’ve realized it’s ok to be weak occasionally. I feel my shoulders getting heavier with the burden. I have reached out to those who understand. I am so thankful for these new friends. Friends I have made because Eli has Down syndrome and now, Infantile Spasms. The silver lining in all of this is the amazing friendships, lifelong friendships, that I have made. I thank God for these people every day.

I’m sorry this post ended up sounding like a pity party. That was not my intent. But remember, I promised to be open and honest with my feelings. This is how I’m feeling today. I pray tonight for a better tomorrow.
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I do it all for them. My two beautiful boys.

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$30,000 for this?!?

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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