Ruby has been on my mind a lot lately. I mean, she’s always climbing on top of me, standing on my feet, yelling and crying, so it’s hard to NOT have her on my mind. It’s her diagnosis and everything that we’ve been through, the emotions, and the ability to keep my head out of the water through it all.
When it was first suggested to me that Ruby might have a chromosomal abnormality, I looked at her differently. Suddenly I could see her ears in just the wrong position, her eyes spaced just a little off, her nose just barely broader than normal. It clicked so suddenly that I was sure that genetics was where we’d find the answer. As she continued to grow physically, but not developmentally, I was even more sure that genetics was it.
One of the most frustrating things that I have experienced in this journey is doubt from outside sources. I knew that Ruby wasn’t a typical child. Not only did I have 3 other kids that I had experience raising to compare her to, but I lived with her and knew that she did things different. Not just different in the sense that all kids are different from each other and develop differently from each other, but Ruby was significantly unusual. When I would open up about my fears to people, they would tell me not to worry, because so-and-so’s child didn’t talk until this age, or this other so-an-so’s child didn’t walk until this age…”I’m sure she’s just fine, those doctors never know what they’re talking about.” This was a common occurrence for a while. I completely understand other parents trying to encourage, but when you actually live with a special needs child and see all of their deficiencies and experience their struggles, have seen a multitude of professionals that second the opinion, and then have someone outside of the situation tell you that everything you’re feeling is wrong… That’s not ok.
The first genetics testing that was performed came back normal. My first feeling was relief. My second and more profound feeling was angry despair. I knew there was something. Our geneticist did too thankfully, and pushed forward for the next test. We expected to go through the holidays (Thanksgiving, Christmas and New Years) without hearing anything, so when the phone rang in the middle of December, I was shocked and unprepared. He told me Ruby had a mutation in the KAT6A protein. We scheduled a time 2 days later to meet and discuss everything, but he asked if I had any questions in the meantime. I answered no, because I wanted to brainstorm questions with Daddypants to make sure we get everything covered. I then hung the phone up and asked Dr. Google.
Everyone knows that you should never consult Dr. Google. I once asked him about Ruby’s symptoms before we had any answers and I immediately regretted it. This time we had a specific diagnosis to look up, and I found that there was (and still is) very little literature regarding KAT6A. One information page that I found was hard for my heart to read. Almost every piece of information that was listed described Ruby. The hardest part was the fact that most KAT6A individuals struggle with sleep. The reason this was a struggle was because of the nearly 3 years of little sleep Ruby and I had experienced together. More so, the frustration that I had felt and the times that I was so angry I felt useless. The days that I felt resentment because I was so exhausted. Feeling resentment toward a child is a very guilt-riddled feeling. But learning that her sleep problems are due to her genetic makeup, something that she has absolutely no control over, and knowing the behavior I had had, broke my heart. I sobbed as I read it.
I also saw that oral motor deficiencies are common, as well as speech problems that include nonverbal individuals. Ruby doesn’t speak. We don’t know if she ever will. I know I’ve said it before, and I’ll say it again, but having a child that you love with your whole being, and knowing that they may never say “mama” or “I love you” is a really hard pill to swallow.
Today has been an emotionally challenging day for me. Tomorrow is my sweet girl’s birthday. I have 3 friends who all had babies within 10 days of Ruby’s birth, and the differences become distinctly more significant each year between them and her, which is often hard.
Tomorrow after breakfast I’ll get her dressed and take her to school for the very first time. She’ll be in a class that is a mixture of typical kiddos and those with special needs. I’m anxious to leave her in someone else’s care, but I’m also excited for the break. Almost 3 hours that I can clean, run errands, bond with Murphy, make uninterrupted phone calls! Ruby has spent much of her time today yelling and crying. She’ll be playing happily one minute and then suddenly just yelling because she’s unhappy about something, but I don’t know what, and she doesn’t know how to tell me. I feel so much frustration because my ears are ringing from all the yelling, and so much sadness because I don’t know what she needs, and so much guilt because I put Murphy down so often to try to tend to Ruby. Murphy is the happiest baby ever and mostly doesn’t mind, but it doesn’t stop the feelings of guilt from rolling in. It’s so challenging when I need to make phone calls but I know that Ruby will not be happy once I’m on the phone.
Most days I feel motivated and passionate and ready to take on KAT6A and prove that Ruby is awesome and able to prevail! Other days, like today, I have to remind myself that it’s ok to feel sad and have a little despair and anger. It’s ok to feel like I’m not good enough or not doing a good job, because deep down I know it’s a lie and that I’m a damn good mom to Ruby and all of her siblings.
I also have to remind myself that it’s definitely ok to brew a second pot of coffee for the 10th day in a row. Here’s to cup number 5 for the day (or is it 6?)!
By Emily Hoffines
You can read more by Emily on her personal blog. Emilyhoffhines.wordpress.com