My first grandbaby. I remember how excited everyone was. My beautiful daughter was having a girl of her own. And though I couldn’t be at the hospital thanks to Covid, I got to see that precious Princess Aurora just a couple days later.

The first few months passed as they normally do for a newborn and a first time mom. However, at about four months, we began to see signs that something was wrong. Her eyes kept crossing and not focusing and she wasn’t sitting up or holding her head like other babies her age were. 

Our first diagnosis was when the ophthalmologist looked at my daughter and literally said “Your baby is blind.” He also said she may have a serious pituitary issue, but she needed an MRI. I am not going to pretend to tell you what my daughter went through or the hell she experienced. I am only telling you what this first time grandma felt. I was devastated while at the same time already researching how to give her the very best life possible. Little did we know things were about to get much worse.

She went through casting of her legs shortly thereafter for clubbed feet. She was so tiny. It was heartbreaking. In the meantime, the MRI showed no physical abnormalities. So we were referred to a neurologist. 

Over the next couple of months, before that appointment, my daughter did what every mother does and started Aurora on oatmeal and baby food. We were a little worried that she wasn’t putting on a ton of weight. However, all my kids were tiny and gained weight slowly. So personally I was not yet concerned.

Then came the call. My daughter said Aurora had a grand mal seizure and the ambulance was on its way. On this, I did understand the terror she must have been feeling. Long story short, after EEGs, an MRI, bloodwork and CAT scans, they determined that she had multi focal epilepsy. 

In addition, they suggested a swallow study due to her lack of weight gain. She failed every single consistency. Everything was going into her lungs. I felt so guilty knowing that I encouraged my daughter to keep feeding her and convincing her that the lack of weight gain was normal. I couldn’t bear the thought of all that food and formula going into her little lungs. They ended up doing emergency surgery and putting her on a g-tube.

They also started the first round of genetic testing. We were told that the first round was like checking the pages of the cookbook to see if there were duplicates or missing pages. When that was normal they said the second round was checking the recipes. That’s when we were introduced into the GRIN world. We had a diagnosis of something we had never heard of before: GRIN2A.

Over the next couple of years she had been in and out of the hospital, mostly with respiratory problems. She now also has COPD and is on oxygen 24/7. 

The battle with the seizures was difficult as we tried to find the right combination of meds. At one point she was having 10-15 tonic clonic seizures a day. Today she is on four meds and is down to one seizure every couple of days and not always tonic clonic.

Princess Aurora can’t talk, walk, crawl, hold her head up or eat. But what we have found in her is an amazing and delightful personality. Her laugh lightens my heart and all those around her. She can be sassy like any other toddler and lets you know when she’s unhappy. The reality is I cannot imagine a world without this beautiful child. 

What lessons have we learned? Well, the first is dealing with the emotions of “why me” and trying to understand why this is happening to someone so innocent. You then have to accept it and move forward and do everything you can to keep this child healthy and happy. This starts with a lot of research and being an advocate for your child’s care. My daughter has spent tireless hours on the phone with insurance companies, pharmacies and hospitals. On my end, I became involved with the CureGRIN Foundation. 

There are resources out there. But it takes an incredible amount of work to figure out what you need, when you need it and how to get it. For example, because of her COPD she cannot go to a nursing childcare facility. The advocate at our hospital told us we would qualify for an in-home nurse. And what a blessing that has been! 

My advice for any family member is to be supportive, learn how to care for that precious child, and help figure out the resources. It is a lot for one or two parents to have to manage on their own. And parents – if you don’t have family support, reach out to your CureGRIN Ambassador to help you find someone locally who is going through the same thing you are. This can be a very lonely path, but you don’t have to do it alone! 

We are so blessed to have Aurora in our lives. At the same time we are going to keep fighting for her and do everything we can to progress all of the amazing research that is happening for GRI disorders.