Tuesday, October 16, 2012

Day 16: Infantile Spasms

Today I'm honored to have my friend, Nicole, guest-posting about her son, Ethan, and their experience with Infantile Spasms.  This post was a year in coming, but totally worth the wait, especially if the information she provides here can help even one family through this devastating condition.  I'd like to add, here at the beginning, that one excellent resource for information and support for Infantile Spasms can be found at the following link:  http://www.infantilespasms.com/forum/
Thank you SO much, Nicole, for sharing your story and your beautiful little boy!

My name is Nicole, and five years ago we had a little boy who we named Ethan. He was born with an extra little love as we called it, also known as Trisomy 21, although that is not the reason for my post.  When he was 11 months old he was diagnosed with Infantile spasms, a form of epilepsy. I am not going to write all the facts, but give you our story because just in the 4 years Ethan was diagnosed things have changed from what I understand. I just want someone to know, if they happen to read this, that it is a hard road, but know that it is not all as ugly as the doctors may say and that there are other families out there who were or are in your shoes. There are great resources - the Epilepsy Foundation, for one, and a few Yahoo groups as well.

To those of you not familiar with this, please do us one favor and never, ever give up on a child diagnosed with IS. When you read about IS on the Internet it is not pretty, the outlook is ugly and grim. We would not give up and neither did Ethan.

We needed to start medications quickly to TRY and control these monsters. In Ethan's case, they were quick head nods that we first thought were just due to his low tone. He would have 3-10 at a time, which could last for a while. And all during this time, they were stunting the achievement of his milestones.

We immediately started medications, and if you are not familiar with seizure medications, let me tell you that what they can do to a child's body is unbelievable. Medication after medication, we would see the seizures worsen and Ethan be less and less  himself and very out of it. Finally, after 3 months of failed medications, we went to ACTH therapy which is a steroid injection we had to give him every day in the leg. This particular therapy made Ethan very bloated, and he would only sleep 4 hours a day. However, Ethan would still smile and laugh, which made this so much easier to get through. We thought at about week 3 we had seizure control - we hadn't seen any, then all of sudden they came back and with a vengeance.

 We immediately had to stop the ACTH and go to what doctors were calling our last hope,  the ketogenic diet. No joke, with this diet you have to measure everything to the gram. All fats.  I couldn't believe what I was putting in my kid. The amount of mayonnaise, oil and butter was just disgusting, but you have to do what you hope works. While on the diet, Ethan got lipid pneumonia due to the oil getting into his lungs. Seizure control was better, but not fully controlled. After about 4 months on the diet, Ethan was becoming very sick. Throwing up.  Blood work was so abnormal that after his third hospital admission we only had one choice but to take him off the diet, the one thing which seemed to be helping. I remember crying in the neurologist's arms, knowing this was our last hope, asking what is going to happen to him now?  There has to be a miracle drug for our little guy.

Our neurologist told us if we didn't get the infantile spasms under control by age 2 our outlook wasn't good. But we were not giving up! After stopping the diet Ethan was put on Depakote which seemed to help, but we never had full seizure control. We had some bad days and we added Banzel to the mix. For us, this seems to be the right mix. Ethan was just having tiny little head nods as he was falling asleep, which is common with kids with IS. We would take that.

His EEG was showing some activity but no seizures - just activity that happens before a seizure and no hypsaarthmia which is Infantile spasms.

We can say today we have not seen anything at all since March of 2012.

Ethan will be 5 in a few weeks. He just started walking, and yes, he may be well-behind his peers, but Ethan has taught us so much these last five years.

One of our favorite quotes is, "a journey of a thousand miles began with a single step." That's our Ethan!  He will get there and it will be in Ethan time and style. Nothing better than that to us.

Please enjoy this video - it is our buddy walk video for this year. 


Heather said...

Thank you to Nicole for sharing her journey, Ethan's journey, with us. As a family who also traveled this horrific road with their child, and at many times, felt very much alone, finding other who understand, makes the load a bit easier to carry.

I tell people, Zoey's fight against this rare form of epilepsy, was in many ways more difficult, then her battle with leukemia. I often get a quizzical look, and I quickly explain that with cancer their are set and tried and true protocols, with IS, it can be a crap shoot. As Nicole's post indicates. We often are throwing medication at this beast and cross our fingers it works. In Zoey's case, she too failed to gain seizure control on the 2 frontline drugs used for treatment. the last we tried, Topamax, was her miracle.

This is a catastrophic form of epilepsy. That can rob our children of all milestones reached and holds the grim prospect of them remaining at a standstill of development, if control cannot be reached. In our case we lost Zoey. She became vacant and lacked expression and that magical smile that lit up our lives was gone.

We are past it now, but we remain guarded and aware and we never forget where she came from and we rejoice in all that she is.

Thanks Becca for bringing this rare disorder that effects our children on occasion, 10 % of our kids will develop it and thank you to Nicole and most especially, Ethan for inspiring us.

Anna Theurer said...

Thank you so much for sharing your story. My best friend's little boy has tuberous sclerous which presented with infantile spasms at 4 months. He too was on the keto diet and while it helped, it was not the miracle they hoped it would be. The rest of their story is not mine to share, but he is doing much better. It was/is a long road.

I love the video of Ethan!

lovemy3 said...

Becca & Nicole - thank you so much for sharing this with me. I have not been affected by IS but I have always wanted more information. Your son is absolutely gorgeous!

Lisa said...

That is an inspiring story - thank you for sharing it with us. My best friend's son has an epilesy diagnosis and he was on the keto diet for almost 18 months so I know how hard that can be on the child and the parents. I hope Ethan keeps improving every day and next year we see a guest post where he is hitting so many milestones you barely remember the hard part of this journey.

my family said...

thank you so much for your story I had no idea the severity of IS. very eye opening. So glad your handsome guy is doing well now.

Tiffany Alfonso said...

Thank you for sharing your story Nicole! Ethan is so handsome, and walking just in time for Buddy Walk! I'd say Ethan's timing and style are pretty awesome ;-) Hugs!

Melissa said...

Nicole, thank you so much for sharing Ethan's story with us!