I have struggled with how to write this post to you. It’s so much easier to write when the moment has passed, the problem has been solved, the mountain apex has been reached. It’s very hard when you know that the moment will never pass… About 7 months ago, I shared with you what it was like to not receive a diagnosis for our youngest daughter. Today, I wish I was writing that post all over again, instead of sharing the diagnosis that we received. This post isn’t “pretty”, it isn’t fun, and there is no light-hearted ending, unfortunately. Getting diagnosed with Rett Syndrome is possibly one of the most devastating diagnoses that can be had. This is the diagnosis we never wanted.
Last Thursday morning, I was the mom of a beautiful little lady with a developmental delay. She was making great gains and we were really getting “in the groove” of life. I think I was getting a bit cocky when I started thinking, the worst is over, she’s really starting to do great.
In fact, life was going so great that I was enjoying a tiny bit of free work time at my desk without Shiloh on my lap when my cell phone rang.
On the other end was Shiloh’s lead geneticist. She quickly began to explain that Shiloh had a gene mutation that was no passed from either of her parents. The MeCP2 gene had a mutation and that mutation was the absolute determination of a diagnoses of Rett Syndrome. Rett is a disease that almost exclusively affects girls.
I think she glossed over a lot of things. She knew that I had never read about Rett, so she related it to the things that we had already seen with Shiloh.
Months to years of intense crying spells with no apparent reason
Hand wringing and rubbing
That super cute pose where she holds her hands behind her back
Hands in the mouth
Trouble breathing (the phlegm-y rattle that she had for several years)
Blank stares where her mind seems to disappear
Poor diet/trouble eating
These are all the things that we knew. It didn’t sound SO bad. She had mentioned the need for testing to determine if she was having seizures, but didn’t go into detail about it. She sounded so positive.
After I got off the phone with her, I started reading. I think I was numb.
I shared the news very matter-of-factly with our family and friends. None of them had heard of it. They weren’t worried.
I kept reading. I asked some special needs moms if they had ever heard of it.
One said she was “sorry”. It is a “scary diagnosis”.
Then it sunk in.
Nothing had changed. But everything has changed.
This is what we’re actually up against with Rett Syndrome.
Stage 1: A girl is born appearing to be normal.
Stage 2: Starting anywhere between 6-18 the girls will begin to deteriorate. The will lose skills that they had including speech, ability to use their hands effectively, some lose the ability to walk at that point. The crying happens.
Shiloh’s crying began at about 6 months and lasted until she was 3. She did learn to walk, but appeared to have the gait of a much younger child. Her balance was terrible. She couldn’t seem to learn any words. We would think she had some and then they were gone never to be heard again.
Stage 3: Starts at 2-4 years. This is the plateau stage. The girls stop losing skills for a while. They start making progress.
This is where we’re at.
Seizures can start at this point. I read somewhere that over 80% of Rett girls have seizures.
Stage 4: Rapid deterioration. Anytime after 10 years old, Rett girls begin to lose any skills they gained. Including the ability to use their hands, most lose the ability to walk, the ability to speak. They are dependent on others for the rest of their lives.
Not an optional stage…
So, we’ve been handed a timer. And we have no idea when it will go off.
I would love to beat the odds. I would love for her to be a miracle story. I would love for them to discover a cure.
Our only choice is to handle one day at a time. One issue at a time. And to help Shiloh in every way that we can.
I thank you for your continued prayers for Shiloh.
We are currently working to get her a great team of doctors and therapists. And we are discussing the possibility of putting her into school in the Special Ed program here if only so that if would give us a few hours of a break each day. The pre-k special ed program in our district has full-time exclusive therapists, so we are hoping that this is the right choice. We can only do this if the entire staff has full seizure training.
If you would like to learn more about Rett Syndrome and the steps they are taking to find a cure, these websites are great resources:
As I learn more, I will share more.
Here’s to the hope that we will have more good days than bad…