My Worst Nightmare: There's Something Wrong with Your Baby

If you guys follow along with me regularly, you know that I've mentioned, lightly, that my daughter was diagnosed with a rare form of epilepsy some months ago. I've decided to write about it finally. This was a tough time for me as a mother. I force myself to remember it because it's important. And I feel like it's my responsibility to share what my daughter went through in case it helps another family. This type of epilepsy is very rare and can be hard to diagnose right away. If I can help at least one family get answers faster then this is a success.

I'm breaking this into a three-part series based on wellness and awareness. This first part will be all about the diagnoses and treatment of Infantile Spasms. The other two posts will focus on what we did after the prescribed treatment and then how to advocate for your child. Because advocating is the only reason we got where we are today. Let's get started.


Diagnosis

When we were finally admitted to the hospital (which took some doing), my daughter had already had one EEG in response to abnormal body movements. That first EEG was a nightmare, and the readings were inconclusive because she screamed through the entire thing. After about a week, my daughter was still having one "episode" a day (we had no idea what else to call it) and a neurologist I had previously seen demanded we be admitted immediately.

She was hooked up to an overnight EEG once we admitted. The nursing staff and our resident doctor got a good look at what we were dealing with because she had a seizure within an hour of being in the hospital. We waited all night, with dozens of wires hooked up to my daughter's brain to hear an answer.

At ten o'clock the next morning, a team of about twelve to fifteen doctors crammed into our room and told me my daughter had Infantile Spasms. A severe and very rare form of infantile epilepsy. IS (Infantile Spasms) are hard to diagnose because they do not look like seizures in the typical sense. They are a cluster of seizures that usually last about five minutes, and are repetitive in nature. It seems almost like a head bob or a startle reflex in most children. The main difference between my daughter and other patients (I've watched *a lot* of videos to compare) is she would scream so violently between each spasm. Imagine if you stuck your five-month-olds hand in boiling water. It sounded like that. She would seize for about one second and then scream. And again. And again.

It is hard to understand what you're seeing; some parents don't notice it at all until it becomes quite severe. We're talking having clusters 8-10 times a day or more. And once a child starts having large amounts of seizures like that daily, brain damage begins to occur. They start regressing physically and developmentally. We were lucky we got answers as quickly as we did, as my daughter's development was still right on track. Honestly, if she had not screamed the way she did when she seized, I don't know that I would've noticed right away what was going on.

There are only roughly three reasons children develop this type of seizure disorder. They have a preexisting condition (cerebral palsy, down syndrome, etc.), brain mass, and unexplained phenomenon. This was extremely lovely news. *sarcasm* Because my daughter had absolutely no preexisting conditions and no genetic history to epilepsy. Only 10% of IS cases are unexplained.

She had a battery of tests done. Blood workup, X-Rays, urine testing, ultrasounds, and an MRI. Waiting overnight for that MRI result was probably the worst night of my life. I cried all night. The odds were so against us; I was sure she had a tumor. And I didn't know if I could survive that. I didn't know if I could be strong for her because there was no way to protect her.

Our resident doctor did his rounds around eight (her neuro team wouldn't be in until nearly noon), but he told me the MRI was clean. He didn't want to me worry any more than I already had. She had fallen in the 10%. And I couldn't believe it. I had never been so thankful for that news.


Treatment

Because IS is so rare, there are only a few treatments for it. They haven't been able to do a ton of testing on "alternative methods" because there aren't enough cases. ACTH is the treatment that is most recommended with the least amount of short-term side effects and almost no long-term side effects. It also has a reasonably high success rate. The other treatments that are offered have terrible long-term side effects, and the success rate is low. If your child is diagnosed with IS, ACTH is the treatment your neuro team will pursue.

ACTH (corticotropin) is a steroid injection treatment. You administer high, concentrated doses of steroids for two weeks, then taper the body off for a following four weeks. You do this all as outpatient. When they told me I would be the one to give her two shots daily (for the first two weeks), I thought, "No way. I can't do that. I can't be the one to do that to her." But there was no other way. It had to be done.

They made my husband and I go through "training" on how to administer the drug and were given a very strict dosing schedule that we needed to follow precisely. The medicine itself had to be delivered to our house before we could be released from the hospital. ACTH costs roughly $40,000 per vile. My daughter needed three. My daughter had qualified for Medicaid (thank God), but the doctors assured me there were programs for children like her to help pay for treatments like these. I never got a bill, but I can't imagine having to go through that along with everything else.

Along with the ACTH, my daughter was prescribed an antiacid (basically) to protect the lining of her stomach from the high doses of steroids. She was also on an antibiotic because she had a minor infection upon admittance. We were a walking pharmacy by the time we were released.


Outpatient

Coming home was harder than I thought. I was afraid of my daughter. The ACTH came with a laundry list of possible side effects that I needed to "look out for." Most of them were very rare but extremely serious. I used to wonder how long it would take for me to look at her and not be looking for a seizure or for her eyes to droop unnaturally (a severe side effect that involves vision loss), or touch her and wonder if this part of her body was swollen or tender (more serious side effects). It took a long time. I watched for everything.

Along with the ACTH injections came a weekly doctor's visit. This was no piece of cake. Steroids are an immunosuppressant, which means your kid is likely to catch something serious very quickly. If she got sick, she would have to be hospitalized. Again. These weekly doctor's visits were her only outing. And we got put into a room immediately. Her weight had to be taken each week, along with a blood glucose test (ACTH raises blood sugar levels and can cause diabetes if not controlled), blood pressure (another side effect) and a blood panel. Every week for the full six weeks of treatment.

The immediate (but short-term) side effects to the ACTH were awful. I never thought we would make it through. My daughter was extremely irritable. She would distress cry almost constantly. She was hungry all the time. She would nurse every hour and still be hungry. We would feed her rice cereal until she threw up and she would cry for more. She gained six pounds in those two weeks. That's a lot for a five-month-old. She could only sleep maybe one or two hours at a time, and she didn't want anyone else holding her but me.

The injections themselves were also rough going. She knew after about two days what was happening when we laid her down on her changing table. The nurses assured me that eventually, I would be able to hold her down and administer the shot one handed, but I never could. If my husband was home, he did the shot. Luckily my sister was able to stay with us five of the six weeks of treatment. Unlucky for her, she was usually the one pinning my daughter down while I gave her a shot. I never properly thanked her for staying with us and enduring that storm. But I'm eternally grateful.

After the two initial weeks (high concentration) is when we will see optimal results. The seizures stopped after about five days on the ACTH treatment. We had a follow-up EEG after the two weeks, but there was still abnormal activity in her brain. They were small blips and not the giant spikes we saw upon diagnosis, but there was still activity that wasn't supposed to be there.

We had to finish out the taper and see what the EEG would say from there. The percentages for a full recovery are not substantial. About 45% of kids that are diagnosed with IS have severe mental disabilities and are retarded. Another 23% have below average IQ's. The doctor's told me when my daughter was diagnosed that she may never walk, never talk, she may never go to school. These were all possibilities for her. And most kids outgrow IS and developed other forms of epilepsy in childhood and continue to have seizures as adults. There's only about 5% of kids that walk away from IS for good.

I'll tell you more about our journey in the next installment.


Thoughts

You as a parent are the most important person to your child's health. If you see something that you think is not normal, say something. And don't stop saying something until you get an answer. Use your intuition. You know your child better than anyone.

We were lucky because I was demanding. And I'll talk more about this in the final installation of this series, but advocacy is essential. We caught her seizures early, and this was very important to her recovery. Because she only had them about two weeks, there was no brain damage, yet. We got treatment exceptionally early, and she had no preexisting conditions. This combination worked in our favor.

Early diagnosis gives your child the best possible chance at a full recovery.


I hope this helped at least one parent out there. And if you've gone through IS with your little and want someone to talk to, feel free to reach out to me. I referenced some information in this blog from other websites that I found extremely helpful when my daughter got diagnosed. You can find that info here and here. And if you want to see what the spasms look like, go to YouTube. Tons of parents that are advocating (like me) have posted videos. I can't bring myself to post any of my daughter, because it breaks my heart, but there are plenty of parents with good, clear videos that capture what IS look like. Thanks for stopping by, please share this and spread the word.