: Diagnosis Journey: Part 2-PVNH & Infantile Spasms

 

Periventricular Nodular Heterotopias & Infantile Spasms

 

After Sage was diagnosed with epilepsy and started on meds, everything became real. All our fears for the past 2 and a half months became a very real and scary thing, Sage was having seizures. We had about two days of few to no seizures after starting meds, but then they steadily came back. We then put her on two other medications that didn’t seem to help. A few weeks later she was having quite a few seizures still, and one day things just felt wrong, so with our neurologist’s help, we started her on yet another medication.

 

The medications she was on at this point were: Keppra, Topiramate, and Vitamin B6. For the new medication, Sage had to be monitored overnight because it could affect her breathing and heart rate. We went to the hospital late on August 28, 2021, and had to be “admitted” after they started her on Phenobarbital. (She has been on Pheno longer than any other medication now, coming up on the 2 year mark). We were lucky enough to have a good friend willing to watch Clover so she didn’t have to come with us, we didn’t know how long it would take.

 

After we got to the hospital and Sage was started on Phenobarbital, we were just waiting for a room to be available, so Brandon left to go home to Clover. It was hard to be away from home for the night, but Sage did great on the medication, and we were able to go home the next afternoon. We had an MRI scheduled for September 2^nd and I tried to convince the hospital that they should just do it while we were there, so we didn’t have to come back in just a few days…but they said no.

 

So, a few days later, we were back at the hospital for the MRI. It was scheduled as a precautionary measure to try to find the cause of Sage’s seizures. Our neurologist even told me that he doubted there would be anything on the scan to help us determine the cause of her Epilepsy but might as well just in case. We got there early, and they rolled me and her back to the MRI room, but they didn’t let me stay while they put her under anesthesia…which made me very nervous. I had never been away from her besides when she was with her daddy. They took me to a waiting room, and I could see her progress on a screen. She was in the “prep” stage for a long time which I thought was a bit weird. It was supposed to last for about an hour, but when 2 hours passed, I started getting anxious, more than I already was.

 

Eventually, a nurse came and got me and as we were walking to the recovery area, she told me they had a hard time getting an IV in and had to stick her in a few places…. I got to her just as she was waking up and I was able to love on her and hold her. While I was waiting for her to come out of it all the way, I started counting all the places they tried to stick her with a needle…. I counted 10… TEN. They ended up having to do the IV in her groin. I pictured her screaming while they were trying to do that, but I really hope they had put her under before sticking her that many times. I’ll be honest, I still don’t know if that was the case.

 

Our neurologist told us he would call us with the results as soon as he got them, but again reassured us that there was most likely not going to be anything on it. He called us the next day. Before he called, he sent me some pictures of a brain scan and asked us to look at them while we were talking. I had never seen a brain scan before, so I assumed the one he sent was just a normal one. He told us he really didn’t think there was going to be anything on her scan, but she had Periventricular Nodular Heterotopias and had us reference the pictures. They weren’t her scan, but just a general picture of what PVNH looks like. He said with this diagnosis there are lots of possible side effects, but she was at extra high risk of Cerebral Palsy.

 

I went numb. Up until this point I had talked with a few people that had young children who had seizures who “grew out of them”, one person was my cousin. She told me about her daughter who would have seizures and they would end up in the ER having to give rescue meds. I had never heard of a rescue med until she told me about it, but as she got older the seizures stopped. But no matter how old her daughter got, she always worried she could have more seizures. So I had a hope for Sage that she would also grow out the seizures and that this was just a short trial….but I was so wrong.

 

I am the one who usually communicates with doctors, but when our neurologist told us some of the risks, that she would most likely have Cerebral Palsy, delayed development, and a myriad of other struggles throughout her life, I shut down. I handed the phone to Brandon and just couldn’t talk. My heart was pounding and I felt the weight of it all crushing me. I honestly don’t remember what else Brandon and the neruo talked about after that, I was in a haze of despair. Everything I had pictured for Sage, the life I saw for us was crushed in an instant. Clover wouldn’t have a normal sister she could play with and grow up being best friends. Sage would continue to struggle with basic things her whole life. And I would be a forever caretaker…

 

As soon as we hung up the phone, I broke down and started crying. I just handed Sage to Brandon and went into the other room; I didn’t want to fall apart like I was and especially didn’t want anyone to see me like that. I went into our girl’s room and hid in the closet and just sobbed. I was only in there for a short time when I heard Clover’s little voice calling for me. She found me in the closet and asked why I was sad, then just hugged me really tight and let me cry on her shoulder. Clover was only 2.5 years old and she already was such an amazing girl and knew how to comfort me.

 

I was so devastated and felt that Sage’s whole future, our family’s future, was taken from us in one fell swoop. I kept falling apart the rest of the evening, so Brandon told me to go take a shower. While I was in the shower I cried so hard I couldn’t breathe, and I prayed harder than I ever have before. I BEGGED God to take this from Sage, I begged “Heavenly Father, please just help her” and I had a thought, clearly not from me…. “I am helping her; I gave her you”. I had never felt so inadequate in my whole life. I was given this unique baby with so many challenges, and somehow, I needed to be strong for her.

 

A week before the MRI I started her Facebook group to let mostly family and some friends know what was going on with us. I kept getting the same questions from many people and was already emotionally and mentally drained answering the same questions over and over again. I had no idea what her page would turn into, or how our lives had truly changed already.

 

I admit the next few months are blur for me. I went into a haze where I could barely function. Brandon had to take the brunt of everything. He was my strength in every single way. September 24, 2021 Sage was officially diagnosed with Infantile Spasms (West Syndrome) after another EEG because her spasms hadn't stopped, and was started on Steroids, but when those didn’t stop the spasms, we then started her on a very aggressive drug called Vigabatrin (Sabril), and that did help a lot, but had some pretty severe side effects.

 

Poor Clover, being only 2, almost 3, learned how to more or less take care of herself. I feel that siblings of special needs kids don’t always get the acknowledgement they deserve. She was my light, she never failed to find something to be happy about, find joy in the darkest of moments for me, and she took everything in stride. She loved Sage no matter what, and somehow understood when Sage needed more attention. Clover actually learned how to tell me when she needed the attention. Whenever she started to throw a tantrum, I would ask her what was going on and she would tell me word for word “I just need some attention”. Clover is more knowledgeable about seizures than most adults are, and right now she only 4.5 years old. She has always been right by my side through everything with Sage and she is such a heaven send for me!

 

After starting Vigabatrin things started to look up. Sage had a really rough go of things at first, she lost a lot of skills she had before starting it, but her seizures started to improve, and we started to find our way in the new direction our lives were taking. I still feared what her future would look like how much damage the seizures had done already, but it did give me hope that maybe, just maybe, she had a chance to continue to develop and grow.

 

It is always hard to learn your child is diagnosed with a life changing disorder, that you know they will struggle with their entire lives. These diagnosis’ have shaped our past 2 years and will continue to shape the rest of our lives.