Here’s The Thing…

I started this awhile ago as an outlet of sorts. But here’s the thing… Like anything else I quit coming back and writing. Mostly because life got overwhelming. And I also wanted to learn how to just be in the moment again and just live. Make memories, and just enjoy the things around me again. The remainder of 2016 has taught me a lot. In September my father in law passed away. And everyone is still trying to learn how to live without him. In October I said good-bye to my best friend. My Gypsy dog had to be put down, to most she was just a dog. But she was my best friend for eleven years. I raised her from a puppy, and while I was absent for a time while I was in college and trying to learn how to be an adult she was always there; waiting for me. It’s now January 2017.

Where do I even start? My daughter potentially has another disease and genetic mutation that could be fatal later in life. I found that out in December. I’m learning how to deal with even more specialists, and how to recognize seizure episodes. It’s hard to think about though. Especially when you think about the long term. I don’t care how perfect of a parent you are, you still dream about the life your child will have. And now I question if she will even get to enjoy the simple things in life. Such as counting down to her 16th birthday so she can get her driver’s license. Will she ever be able to drive? The thing is, she will never grow out of heterotropia. It’s permanent, she will always have it. Will she need medication for the rest of her life? Only time will tell. Only time will tell… that answer is starting to become the normal for us.

Also to top it all off, in December the neurologist looked at me, and said “I want her to see a cardiologist sometime.” I was in shock. I mean so far this has all been about her brain. Why do we need to get a heart doctor involved as well? Well it turns out that her extremely flexible joints could be the cause of a connective tissue disorder… It’s genetic. Well isn’t that just fantastic? No, not really. It turns out that these disorders can cause many organisms to not develop properly. So as she gets older she could be faced with heart problems. For example, a leaky heart valve… Let’s let that just sink in for a minute. Trust me it takes longer than a minute, I still can’t grasp my head around any of this. So eventually we will talk with her pediatrician and then again with the neurologist to determine when and where we will see a heart specialist. Although the neurologist reassured me, “I don’t believe she has any issues to be concerned about…yet.”

“Yet.” “Only time will tell.” I hate those two phrases right now. I spend a lot of my time trying to research both of these disorders. There is hardly anything scientific on either one. The most I have found is that both are genetic mutations, passed down. You either have it or you don’t. Males don’t live past the prenatal stage. This could explain my miscarriage before Riley. Genetic could explain my seizure when I lived down south, away from home. Genetic could explain my unexplained and frequent migraines. Genetic could explain a lot of things. So at this point I feel as though as much testing as we can do now, will prepare her for the road ahead. Perhaps, but honestly “only time will tell.”

So here’s the thing… I am back. Because I don’t find a lot of anything anywhere. Because I feel alone in our journey with this diagnosis. Because I don’t want others to feel alone. Because I want to hopefully normalize all of this, I’m tired of over explaining what is “wrong” with my quiet, timid, beautiful, and amazing two year old. There is nothing wrong with her, she is who she is. Maybe there are other mommas out there in the same uncertain boat. I would love to talk with you, we can ride this storm together.

Gray Matter

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.

Stress and the Unknown

I have thought this over multiple times since my youngest daughter, my mother, and myself left the children’s hospital on Monday. See the thing is that my tiny little toddler has these episodes that nobody can diagnose. I have been to the ER once and the children’s hospital twice with her. Poor thing has had to undergo two different EEG tests and it’s painful to sit in that doctor’s exam room and hear that her (yes I have to admit that it is “hers” and not “the”) neurologist is baffled.

See my daughter has had these episodes that at first we thought were a type of seizure, but now that they keep happening it’s not clear what is going on. I have had her eyes checked and the optometrist said everything looked great. So we ruled out something there, good right? Her first EEG came back normal, good right? Well we had to do a second EEG for a follow up, and that one came back normal also. So now because these episodes are so short her doctor doesn’t think they are migraine related (which is really good). But a pattern has developed… 7 scenarios since December. Now her doctor thinks it could still be seizures OR something called channelopathy.

I received some crushing news that because her EEG was normal my little girl will need to be sedated and have an MRI performed. This is something that the hospital calls you to schedule first. So I’m sure you all can imagine I have been waiting so patiently for them to call me. I also was given two really serious prescriptions for medication that makes everything so real. One is an emergency seizure medication, and the other is a medication she will need to take daily and it treats both channelopathy and seizures. The latter medication sounds scary and the few side affects I have seen so far are frightening.

It’s frightening right now to watch my little girl playing with her big sister and question how healthy she actually is. She is so full of life and love, she makes our lives so much brighter. I’m afraid to think of the MRI, but also I hope that it will show something that will finally give us answers. I’m afraid to give her a medication that she may not need. But I’m also afraid to not have the emergency medication on hand, we live to far from the hospital for EMTs to get here fast enough. I’m afraid that we will never know what is wrong with her, and just medicate her in hopes that it is actually working. But then I’m also afraid to not medicate her and realize that a huge episode could have been prevented.

It’s times like this that no parent should have to go through. My oldest daughter has a friend that is currently fighting leukemia and I can only imagine the stress they go through every day. I had hoped I would never know, but now there is a possibility that we too are fighting something unknown. And it scares me to think of what the MRI could or couldn’t show us. What are we going to do if there is something there? Or what will the next step be if there isn’t anything there? Only time will tell. If nothing else Monday has taught me that anything is possible in life, and there is no such thing as “it won’t happen to me.” It has also taught me to love my girls harder and to hold my entire family closer and tighter.

My mom asked me Monday night (full of sarcasm) how I could possibly have any stress in my life. And now that I’m thinking over everything I think stress comes from the unknown. Sure we, as human beings, stress over little things and think critically over every little thing but I think it’s the only way for us to process the things we don’t understand. We strive to understand everything, and the things we don’t we ponder them more until we figure something out. And that my friends is how stress comes to be, or at least that is how I think it happens.

For anyone reading this right now, I hope you never have to wonder how healthy your child truly is. For those of you that already do and know the struggles I send you strength and a hug. And I hope for all of us that are in this limbo of unkown that there soon will be a light at the end of the tunnel with answers. Never lose hope, that is something I must remember.