Officially SEIZURE FREE

Eli had his follow up EEG today. His neurologist said everything looked perfect. All brain activity is normal. Woo hoo! Praise the good Lord. He will be off all medication in two weeks. There is no plans for a return visit to the neurology department unless the seizures return. Infantile Spasms can re-appear but we will remain hopeful that the seizures are a thing of the past forever…Soon to just be a distant memory. Eli is especially happy not to have to partake in any more EEG’s. He is not a fan.
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I am so thankful that this whole process was relatively easy compared to some of the horror stories I’ve heard about. Infantile Spasms are very hard to treat sometimes. We are lucky that we caught them super early, treated aggressively right away, and got the whole thing under control within 3 weeks. I give thanks to the doctors who supported us throughout this process, most notably, Eli’s pediatrician Dr. Partridge. She took me serious from the get go. I am forever grateful to have such an amazing professional support system in Eli’s corner. Go team Eli!!!

It is awesome to see him reaching so many milestones now. He rolls over from back to front and from front to back. He can sit up unassisted for a couple of seconds. He reaches up when he wants to be held. He can sit in a high chair, a Bumbo, and an activity jumper. He may be a little behind at reaching some milestones but he is catching up at record pace! He is a determined baby that is for sure. Eli also had his first taste of rice cereal on Mother’s Day. He definitely seems to enjoy it!
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Next we’ll try fun stuff like applesauce, bananas, and squash (those were Cody’s favorites)! I’m excited to have my baby back!!!

Thank you all for prayers, love, and support. This road would be a lot harder to travel without so many of you routing us on! I am so, so, so proud of our boy for getting through another challenge. He inspires us daily. As always, we are truly blessed.
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Quick update and a plethora of pictures!

Eli had his last ACTH injection yesterday! Woo hoo!!!! He has an EEG on Tuesday. Praying that the seizures are gone for good. He’s been a trooper through all of it. The appointments, the injections, the awful tasting medicines, the puffy cheeks, the insatiable appetite. He’s a rock star.
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He sat up unassisted for the first time last Wednesday. These pictures were taken after an hour of physical therapy so he’s not very happy. Daddy, Linda (his super amazing PT), and I were quite excited. Every day he amazes us.
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The beach was another truly wonderful experience. It was so nice reflecting on the past year with my baby in my arms watching his big brother and daddy play on the beach. It is exactly how I envisioned life a year ago when I fully embraced the gift of Eli and the path God had set forth for our family. Long Beach, Washington will forever be my happy place.
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Finally, Happy Mother’s Day to all the mommies out there – especially mine. You are the reason I am the mom I am. Thank you for your unwavering love, steadfast support, and constant friendship. There is nobody else in this world that I can laugh with like I laugh with you (especially at inappropriate times like the Starbucks drive thru! 😄). I love you! ❤
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Celebrating! 2 weeks seizure free, a 6 month birthday, and a 6 year wedding anniversary!

It has been two weeks since Eli’s last seizure. I am finally starting to let out the breath I’ve been holding. We started weaning him off the ACTH last Friday. His dose was drastically reduced. He was at a high dose of 0.6ml and the first stage of weaning dropped him to 0.13ml. Now he’s at 0.06ml and will go down to 0.04ml. He will be done with the weaning process next Friday. He is scheduled for a follow up EEG the following Tuesday (May 14). He never did have an EEG before starting the wean. The neurologist was confident that the EEG would look good while on the ACTH since he hadn’t had a seizure in over a week. The less EEG’s we have to do, the happier Eli will be. It’s not a fun process for him (or mommy and daddy). Thank goodness he’s a baby. This whole process would be next to impossible with our toddler.

I am also ecstatic to report that Eli’s personality is back to the happy, carefree baby he was before the seizures started. He smiles and plays and laughs and babbles. It is so wonderful to see our boy shinning brightly once again!

This past week he turned 6 months old.
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I am not sure how this has happened already. At times, it seems as though the days drag on forever (usually during a hospital stay) and other times the days, weeks, and evens months, go by at lightening speed. Crazy to think all that he’s been through in 6 short months. I’m hoping that all of the “icky stuff” (to quote my almost 3 year old) is behind us now, God willing.

Chuck and I celebrated our 6 year wedding anniversary this past weekend. Our lives are certainly different than what we had planned when we first said “I do” but I wouldn’t have it any other way. Life’s challenges seem less challenging and the triumphs are more triumphant with my best friend by my side. I love this quote (by Winnie the Pooh!) – it sums up my feelings the best: “If you live to be a hundred, I want to live to be a hundred minus one day so I never have to live without you.”20130430-235622.jpg

Thank you for sharing in the love of our family, and most importantly, loving our little boy(s). ❤

One week seizure free!

Look what’s back?! His beautiful smile! 20130424-000131.jpg
Eli has been seizure free for one whole week! He’s still not the Mr. Happy Boy he usually is, but I’ll take a few smiles and the occasional giggle over irritability and crankiness any day! It’s really interesting…He’s still on the high dose of ACTH yet he’s a totally different baby now that he’s no longer having the seizures. Leads me to believe it was the seizures causing his unpleasant behavior and not the steroids – or maybe now that the steroids are actually working the negative symptoms subside some? He does still have a very “swollen” face (known as moon face) but I think his chubby cheeks are adorable! 20130424-000821.jpg
I am so thankful that the ACTH finally started to work, just when I was ready to give up. I have read so many heartbreaking stories where the search for the right medicine(s) is exhausting and never-ending. I thought that was the road we were heading down. I truly was starting to lose hope.

Eli still has to get through the weaning process so all of your continued prayers are appreciated. He’ll have another EEG at the end of this week or early next week. If the test shows normal activity has returned to the brain, we will start the wean off the ACTH. That should take about 3 weeks. I am not sure of the maintenance plan after that. Usually, children stay on an anti-seizure drug (there is a wide range of treatment protocols as to the length of time – depends on the neurologist I guess!).

Thank you to all who have kept the faith. Your love and support is invaluable. ❤20130424-002834.jpg

Good news! Stopping (stopped?) the seizures – Day 14

Today I come to you with good GREAT news. Eli has not had a seizure since Tuesday night at 10pm – exactly 48 hours ago!!! I was hesitant to share this news because I didn’t want to get your hopes up but, I am going to stay positively optimistic that we have started stopping the seizures. We are nowhere near the end – yet. He will stay on the high dose of ACTH for one more week. If he stays seizure free he will have another EEG at the end of the week or beginning of the following week. If that is clear we will begin the 3 week weaning process.

I am starting to see some of his personality return. He smiles, occasionally. He giggled once yesterday. I cried tears of joy. Even if it’s just a little glimpse, I am so happy to have my baby back. He’s a little bloated and has “moon” face (puffiness from the steroids) but he’s still the cutest boy in the world to me. ❤

Thank you, thank you, thank you for your continued prayers. They are working! It is with the outpouring of love and support we’ve received from all of you that has kept us strong. We WILL beat this!!!

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Trying to stay grateful while trying to stop the seizures (day 12)

I was going to write an update on Eli yesterday but in light of what happened in Boston, it didn’t feel right. What a sad day – for Bostonians, for the country, for human kind. I adore Boston. It’s one of my favorite cities. I like the Boston Red Sox and I love the Boston Celtics. Most of my family is from, and many still live in, New England. I find it heartbreaking that an event that brings together people from all around the world, was shattered by such insanity. My heart goes out to those that lost a loved one. My prayers go out to all the victims of another senseless act of violence.

As far as Eli and his seizures, things seem to be staying the same. We are on day 12. By now, they should be gone – at least that was the impression I was given. Yesterday, although he was still having seizures, they did seem smaller. Instead of 20-40 spasms in a cluster he had 2 or 3. It was very promising. And then he had one with 25. But, it was still better than the day before. That’s all we’re looking for – progress. Today he woke up and right away had a seizure. Then he had one before his injection and again in the parking lot at the pediatrician’s office, then when we got home, then again after lunch, and again while he lays in my arms while I type this on my phone – most with 20+ spams. So, today we’re right back to where we were. So frustrating!

I did speak with the neurologist yesterday. I expressed my concerns about the ACTH not working, even at the increased dose. His thought is, let’s give Eli “the benefit of the doubt”. He stated that it is very “atypical” for a child with Down syndrome not to respond favorably to ACTH when treating Infantile Spasms. I get it. He finds it hard to believe that Eli will be the one that it doesn’t work on. I should have reminded him though – our Eli is anything but typical. He does things his way, in his time. I’m certainly willing to keep trying it. I’d hate to give up when we already have so much invested. But I also don’t want to miss out on the opportunity to try something else. Time is the enemy. We are dealing with a “catastrophic” seizure disorder. The damage Infantile Spasms does to the brain sometimes cannot be reversed – or it could take years to ‘fix’. That is a scary realization. He’s already experiencing the nasty side effects of the drug (weight gain, irritability, no ‘personality’). I’ve only seen him smile once since getting into the thick of this treatment. That is the hardest part of this process. I miss my baby. I miss his smiles and his laugh. I miss his sweet personality. I miss looking into his eyes and seeing a brightness. Now he just seems ‘distant’. He tires very easily so we don’t get to play much. But, I do get more snuggle time because he always wants to be held.

Please continue praying. Each day I wake up and pray that today will be the day the seizures stop. Each time I give him an injection I say a prayer that it will work and doesn’t just end up doing more harm than good. Each night I pray for a better day. And I also pray for all of you. Every single one of you that prays for, thinks about, asks about Eli. Each one that has offered dinners for us, or to go shopping for us, or to just be there for us. Most people don’t understand what it’s like to have a sick child. They don’t get the strain it can put on a family. I won’t lie, it’s rough. I considered our family to be strong. Heck, we’ve been through a lot already but always weathered the storm. This storm is more like a hurricane. We’re staying afloat, but sometimes it feels like it’s just barely.

But, today I still woke up grateful. My children are alive. I am able to hug them and kiss them and hold them. Some families no longer can. I will never take a day for granted – good or bad.
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Reflect upon your present blessings, of which every man has plenty; not on your past misfortunes of which all men have some.
– Charles Dickens

Stopping the seizures – Day 8

Well today is day 8 on this hellish journey. I hate to start off that way but I’m not the sugar coating it type. Eli is still having seizures. Yesterday the neurologist doubled his dosage of ACTH since he hasn’t shown any improvements. Now he’s getting 0.6ml of the “liquid gold” injection daily. The good news is: I am getting better at giving the shot. I am still nervous but my confidence is increasing. The bad news is: Eli had more seizures today than any day prior. I just don’t get it! I was told “Kids with Down syndrome respond so well to treatment” and “Most kids stopped having seizures after the first few injections”. So why does my kid not respond to this treatment? Is there another cause of the Infantile Spasms? Because Eli has Down syndrome, the neurologists just assume that’s the cause. Infantile Spasms are most likely caused by one of the following:
•Central nervous system infection (for example, meningitis, encephalitis)
•Abnormal brain development or injury
•Neurological disorders with skin lesions (for example, tuberous sclerosis, neurofibromatosis)
•Genetic abnormalities (for example, Down syndrome, Miller-Dieker syndrome)
•Metabolic disorders (for example, mitochondrial diseases, phenylketonuria, hypoglycemia)
(www.infantilespasmscenter.org)

Is it possible that Eli could have something else going on and Down syndrome is actually a non-factor? Yes, it’s possible but definitely less likely. We pray that there is nothing more sinister happening with him to be the cause of the Infantile Spasms. His neurologist explained that it sometimes takes longer to figure out the right combination of drug therapies to stop the seizures. We will try the higher dosage of ACTH for 2 weeks. If that doesn’t work then we go to plan B (I have no clue what that is since I was certain plan A would work!).

The roller coaster of emotion is taking a toll on us. Each day we wake up wondering if today is the day the seizures will stop. We wait with baited breath until he eventually has one. Then the rest of the day we feel defeated, deflated, and downright depressed. Today we passed that old church sign in the country. Yesterday, it had something about Easter on it. Today it had been changed. It said Jesus gives new life. Start yours today. I got very excited and hopeful that once again that sign was speaking to us. (Confused? I’ve written two previous posts about said sign “A sign that speaks to me…” and “Having faith”). I thought it was telling us that Eli’s new life (seizure free) would start today. But, it didn’t. Maybe this is the beginning of the drugs working. It takes time. I just pray it doesn’t take too long.

Eli’s picture on Circle 21’s Facebook page Wednesday received 8,400+ likes and comments!! That’s over 8,400 people who are praying for, said a prayer for, or are just thinking about our sweet boy. 8,400 people – How awesome is that?! That’s pretty amazing. Just like Eli.
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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?!?

Stopping the seizures – Day 1

We are settled in at the hospital. We scored a private room thanks to Eli’s lingering cough from the previous week’s hospital stay. It’s great to have our own room but now we have to take “quarantine precautions”, which means no children under 10 allowed to visit. We found that out about 5 minutes before a very excited Cody (with Nana) showed up. Luckily the hospital has a great outdoor play area that happily occupied big brother while we took turns playing with him.

Eli received his first injection of ACTH. That was about 3 hours ago. So far there has been no reaction. He is currently sleeping restfully in my arms. The doctor warned us that many of his patients parents “no longer like their child while on ACTH” so I am expecting a raging, steroid fueled, beast to emerge shortly. I can’t imagine my lovable, easygoing baby turning into The Hulk. Fingers crossed his sweetness can overtake any crankiness.

I have been practicing injecting an orange to get the feel of giving the shot. I feel I have mastered it. But an orange doesn’t wiggle or cry so my mastery doesn’t mean squat. Tomorrow will be my turn. If I can give Eli the injection successfully, we may be able to go home. No pressure.

Your continued love and prayers for strength and healing for Eli are greatly appreciated as always.

Luckily, he doesn’t seem to mind another hospital stay…yet.

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He loves kisses!!!
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Big brother thinks the hospital is a pretty fun place!
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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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