It has been a year since I wrote about our daughter’s journey through Infantile Spasms (IS) or West Syndrome, a “catastrophic seizure disorder” that typically comes without warning and leaves the children it touches severely disabled. Unlike epilepsy, its more common cousin, IS comes around six months of age and is accompanied by high voltage electrical spasms (more subtle than a seizure but much more devastating) that cause significant damage to the baby’s brain each time they occur.
At its peak, our little girl had 48 in one episode, and she would have several of these a day.
The only line of treatment is to completely stop the spasms before they have a chance to do irreparable damage. Unfortunately, this is easier said than done. It requires 100% cessation, and 95% is still considered failure thanks to the damage that spasms cause. Plus, the treatment for my baby’s brain has side effects including possible peripheral blindness and stunted growth.
Our journey began on Veteran’s Day in 2016, after our lovely daycare worker noticed the telltale signs of IS, which is a spasm that causes the eyes to dart up and the arms to go out and go stiff. We rushed to CHOC and received the diagnosis quickly. We thankfully caught it very early, but one completely horrible pediatric neurologist (who I won’t name) was the person who sent us into a spiral of despair and a mountain of questions. Whenever you have a sick kid, you want answers and you hope that things are going to be ok. This doctor should have said that she would do all she could to help to try to give my baby her best chance (like our current neurologist did). Instead, she said, and I quote:
In all of my years seeing kids with IS (she was in her 60s), I have never seen a child fully recover from this disorder. All these kids have some sort of delay and most have profound delays.
Of course my husband and I cried for a good three days (we were in the hospital for eight days the first time) because we saw our precious baby go from completely healthy to possibly seriously disabled. We were crushed. We fortunately asked to get a different doctor, and our current neurologist is amazing. He fought for her and gave us cautious optimism.
The stats were not on our side, however.
In most cases, this condition is caused by an underlying problem with the structure of the brain or another equally devastating condition like cerebral palsy. We were very lucky in that there were no known causes of our daughter’s IS as shown in countless genetic and extended genetic panels and MRI data. This meant that she dodged the 75-80% chance of being profoundly delayed. After speaking with the IS specialist at UCLA, we found that – on her trajectory of treatment – she would likely fall in the 10-20% camp of having “cryptogenic IS.” That basically translates to IS with no known cause. This meant that, of these kids, about 10% will turn out to be “normal” after treatment is complete. One might think that having no cause is the scariest of all. However, this is the best spot to be in. So we started her treatment and hoped and prayed for the best.
What followed was a whirlwind of difficult and expensive medications and a LOT of supportive therapy.
My baby girl went on a six-week treatment regiment of intramuscular steroids. They caused her to blow up like a balloon. This round of treatment was a shocking $38,000 a vial (we used four vials over the course of treatment). Thank goodness for health insurance. Unfortunately, this didn’t work as planned (it helped reduce the spasms, but elimination wasn’t achieved). So we switched to a seizure medication with a serious warning label that it may cause peripheral blindness. We agreed that this was a side effect worth risking and we signed up. This med did the trick, and she has been seizure-free since December 7th. Thankfully, it was only $150 a month, which in the scheme of things was a complete bargain.
Then we began the “wait and see” game whereby, with supportive therapy, we needed to see if she would catch up to her peers. We also did repeated EEG monitoring to make sure that the meds were doing their job. And they were. My baby got connected with the local Regional Center. She began Occupational Therapy (school-based), Physical Therapy, Infantile Support and enrichment (school based), and soon-to-be speech therapy.
We did absolutely everything we could and then held our breaths hoping that she would beat the odds.
At one of her most recent outpatient neurology appointments, the doctor called my baby girl a miracle, and she certainly is. She has completely thrived and she looks and acts exactly as any other 18-month-old child. She has caught up on fine and gross motor skills. My daughter is saying words. She is walking. And she is getting into trouble thanks to her impish personality daily. She is the light of my life and I can’t believe how blessed we are to be here today. She is absolutely perfect. My daughter will be a normal little girl, and she will thrive. She is in that miraculous 10% of a 20% group that are completely fine after the spasms are controlled.
I want to go find that neurologist and make her meet my little warrior.
I want to tell that crotchety old lady that she should really improve her bedside manner and that instilling hope doesn’t hurt anyone. And I want to thank the good people at CHOC and all the nurses who cheered my daughter on the whole way through. I can honestly say that I hope I never see them again, but I think the feeling is warmly mutual. My baby girl is my inspiration, and I sincerely thank those who were right there with us cheering her on too. So don’t lose hope if you have a child with a disorder with tough odds. Love and support mean everything, and looking for the light in the darkness is the best way through it.