Periventricular gray matter heterotopia…
My two year old’s diagnosis came in yesterday. Well I should say that a better working diagnosis came in. There is still a chance this may not be completely what is wrong with her…
From the beginning… I feel as though I have to start at the beginning because I’m still not sure how this happened either. All a parent ever wants is for their child to be healthy. In December we found out that, that may not be the case for our youngest little girl. At day care she had this episode where she started rubbing her eye and then became unresponsive and then fell asleep. They told me about it when I picked her up, she acted fine. I explained it away as I may have given her night time cold medicine instead of the daytime stuff, in order to combat her cough. About a week later the day care called, it was happening again. Rubbing her eye and becoming unresponsive, Daddy picked her up. I skipped my last class that day, tried to get her into her pediatrician because at this point it sounded like siezures. They couldn’t get her in until the next day, so I made the decision to just go ahead and take her into the ER. She had another episode right in my arms. Crying, rubbing her eye, unresponsive to my voice, tensed up and ended up leaning away from me and ending up on the bed. She then fell asleep. The Doctor gave her a working diagnosis of complex partial seizures or focal seizures. My world started to crash around me. Her pediatrican the next day confirmed what the ER said. So we were then referred to the Children’s Hospital to get an EEG as well as consult with a nuerologist. Flash forward to February, the EEG was scary. I had to pin her down as they ran the tests. Luckily I had my Mom with for moral support. Then we met this woman who would become her nuerologist.
I feel that I need to add a side note about my daughter. She is not a social butterfly liker her big sister. It takes her a long time to feel comfortable around new people. And in fine form she was very apprehensive of this doctor. But we found out that her EEG was normal, which was good news I thought. She wanted to run another test in 3-4 months as well as a follow-up. Her next appointment wouldn’t be until May. In that time she had 4 more episodes, 2 in March and 2 in May. It wasn’t until the day before her next EEG was I finally able to get the episode on video. But I always took pictures of her eye because it gets so red. Now she wasn’t falling asleep afterwards, she would immediately get right back up and go play. She has no recollection of what happened. People have tried to tell me that these episodes are just her sleeping and I’m making too big of a deal of it all. But the truth in the matter is my little girl is a light sleeper and she will respond to me when I talk to her when she is sleeping. She also hardly every rubs her eyes. There is absolutely nobody home when these happen, even though she will cry a little bit. Her new symptom is chewing on her thumb as well as rubbing her eye.
Her second EEG was also normal, and at this point I had to admit that this woman we drive over 100 miles to see was our daughter’s neurologist and that she needed one. So at this point, after having an eye appointment, our only option was an MRI. Our doctor gave us two prescriptions, one is for emergencies and the second is a daily medication that will combat seizures and channelopathy. Oh yes channelopathy was the new working diagnosis as of her appointment in May. Basically it could be the cause of periodic pain behind the eye that would trigger a seizure. And ironically the only way that humans even know about this disease is because descendants of Impressive were found to have it. (For those who don’t know Impressive is a horse.) Luckily my Mom was there again to help translate all these big words and findings into easy terms for me to digest. (I’m a nerd, but that is a whole other level that I haven’t achieved like she has.) The daily medication is some pretty serious stuff, serious enough that she will need an ID tag of some form to show that she takes it. I went home and researched the drug and while yes it does have side affects, they weren’t death. So for the last I have been at this crossroads when do you admit that your child needs daily medication, or do you hope that she will grow out of it? But then if this MRI showed something totally different would that medication have been pointless? What if she doesn’t grow out of it and she has another episode and something catastrophic happens, and I could have prevented it? I finally went ahead and filled the prescriptions; well one anyway. Our insurance denied coverage on the daily medication. But I do have the emergency medication, which is difficult to remember every time we leave the house.
So Friday I drove myself and my precious daughter down to the Hospital. We checked in and waited for the nurse to come and get us. The man who would be administrating the medication to put my little angel to sleep was absolutely sweet and kind. Okay seriously everyone we have encountered on this journey has been outstanding, and they have helped me be stronger than I am. My daughter has become so used to the doctors and nurses and procedures that she just laid on her bed and looked at the nurses, the MRI tech and the doctor. She held her own mask and quickly fell to sleep. I was escorted back to the waiting room to fantasize about every possible thing that could go wrong. Once I finally got to see her after the testing she was so sleepy and yet so much herself.
Yesterday her doctor called and said she has periventricular gray matter heterotopia. Basically during brain development two small pieces of gray matter got stuck in a location that they don’t belong. These two small spots are coincidentally near both eyes. This could be the cause of her seizures. And yet they could still be caused by something else. So we need to begin her medication and see if it helps with the seizures, but we are still at a standstill with getting it approved. Hopefully the end of the week I will have an answer for that. This is something that she will never outgrow and it will never get better. But hopefully the medication will treat her seizures. It is an odd feeling to know that every time she rubs her eyes, we have to be on alert. Phone is immediately set to video and I also have a pen and paper ready so I can document everything that happens. But she is alive and she doesn’t have a tumor or an aneurism on her brain. The likelihood of her living a normal life are extremely high.
Mommy to Mommy I am still nervous as to what the future holds for my little one and our family. But I am grateful that it’s not worse and that I have a name to go with what is happening. It’s still not definite but it’s closer than we were in May and WAY closer than we were in December. Mommy to everyone take nothing for granted, live everyday to the fullest. Always kiss your loved ones good night.