Miracles happen every day. We just have to be one of them. That's the advice my mom gave to me on the day we heard the diagnosis.
We knew something was wrong with our daughter. We'd known for a while. We just didn't know it was this something and we didn't know it was this bad.
On Dec. 17, our daughter was diagnosed with Rett Syndrome, a rare genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child's life: their ability to speak, walk, eat, and even breathe easily. It's completely random and spontaneous and there's no genetic reason that our daughter would get it. Just luck of the draw, I guess.
I remember everything about the day that we heard the diagnosis -- the sounds and the smells of the doctor's office. The things I cancelled in order to make it. The heartache I felt immediately after hearing the news. I knew it was bad news by how the doctor acted on the phone. I just hoped I was very, very wrong.
Up until my daughter turned two, everything was on track...or "typical" as we like to now say. From the age of two until she turned three various issues would come up, but with therapy and patience they would go away. Or that's what we were told.
Girls with Rett start out developing normally and then at some point begin regressing. Our daughter used to be able to speak. She used to be able to use her hands purposefully. She used to be able to do a lot that Rett has taken away from her.
One of the scariest things about it is that we don't know what else it will take -- for example, she is at risk for seizures, scoliosis and feeding tubes, just to name a few of the potential maladies that await us. With hard work and a lot of luck, we could avoid those things. Or we could not. The uncertainty makes living in the present very difficult. But, we know that without hard work we're at higher risk. So, our "normal" includes a team of 7 different therapists. Every day we see at least one of them. Most days we see two. Every day we do extra therapy at home, having developed, out of necessity, into amateur therapists ourselves.
It's not a complaint -- it's our reality. I just know that no one else, unless they're going through something similar, really understands the amount of extra work it takes just to get our daughter to hold a fork, for example, or jump on a trampoline, or climb the stairs. And the world of special needs is foreign to everyone the day before that first day. Someday, maybe it will be foreign to everyone. No one wants their kid to go through these struggles, or asks for it or deserves it. And there's no one outside of the special needs world who fully understands the isolation, the exhaustion, the constant fear.
Unfortunately, there is currently nothing that doctors can do for her. Sure, if she gets seizures, they can give her seizure meds, of course that doesn't mean the seizures will fully cooperate. If she stops breathing regularly, they can give her oxygen. But there is no treatment for Rett Syndrome, and there is currently no cure.
When our daughter turned 12 months and she wasn't squatting yet, I assured my wife, "She'll be able to squat someday. It's not like she'll live her entire life without squatting," I said.
When our daughter was two and a half, her vocabulary started changing. She had some two-word sentences and was using a handful of words, but inconsistently. I assured my wife that she was "just concentrating on learning other skills. Kids don't just forget words," I said.
When our daughter was two and a half she started wringing her hand, "Focus," I told our daughter. "You can control this," I said.
I was wrong -- very wrong. The regression is devastating. Watching your child and all the dreams you had for her evaporate is an experience that is of the most heart wrenching, I think, anyone can experience.. I imagine the feeling of getting a diagnosis that will change your child's life forever is akin to feelings and emotions one would feel at the beginning of a roller coaster, just as it starts to move, and they come on the loudspeaker to tell you the track is out.
There are worse tragedies, for sure. But at least most of those are final. This is a lifetime of frustration. And not just for us, for our daughter as well. She is trapped in a body that won't do the things she wants it to. She can understand everything around her but cannot engage with the world in return.
Now that we're past the regression (we hope), we're anxious to find a cure. Rett Syndrome is curable. You can read that again, if you'd like. In some ways, we're fortunate that we know what it is. We're fortunate that it is curable. Not everyone with sick kids has that luxury. Though currently no cure exists, they have been able to reverse its effects in mice. They've learned that it is not degenerative. That means that when they find a cure, it will be somewhat like turning on a switch and many things she can't do now, she will be able to afterwards.
It's really an amazing discovery and it gives us so much hope. But hope is not enough. A treatment and a cure are possible, but the trials and research need funding. The more trials we can fund, the more opportunity there is for kids with Rett Syndrome. The urgency is real as well because every day that goes by, my daughter gets closer to the possibility of experiencing the worst of the symptoms. One of which is sudden death.
I made this video to raise money for my daughter and the thousands of girls like her. The faster this video spreads and we find a cure, the faster no one has to read anything like this about Rett Syndrome again.
And that day won't be soon enough.
Diabetes used to be a disease without treatment. Aids used to be a disease without treatment. We want Rett Syndrome to be on that list. Scientists say curing Rett Syndrome could be the gateway to curing Alzheimer's, Parkinson's, and other neurological diseases.
"Rett Syndrome, the first pediatric neurological disease cured." That's something I look forward to saying. Actually, I look forward to my daughter saying it.
Miracles happen every day. Won't you be one of them? Share this story. Share this video. Let's fight this together.
VIDEO: