The Next Step
Stop what you’re doing! If you haven’t read the post “You have a diagnosis, now what?”, do that now!
Okay. So you read that they wanted to test David’s genetics and test him for seizures. Talk about scary. They did the genetic swab while we were in office at the initial appointment. If they offer this to you, I highly recommend doing it if you are able to afford it. We were told it would be a while before we would hear back. Due to Covid, it also took a while to get an appointment with a Neurologist. The wait for that was probably the most stressful.
As mentioned before, David lost some language skills. Now, this can be a sign of seizure activity, but it is also a normal thing in Autism. The CDC discusses how a sign of Autism is the lost of acquired language can occur around 18 months, which is exactly what happened with David. Try as I might, I could not keep my anxiety at bay over seizures. Autism is commonly a diagnosis that comes along with other diagnosis‘s. Seizures are pretty commonly associated with Autism.
We actually received David’s genetic results before his Neurologist appointment. They found an abnormality. Now, if this happens to your child, I’m sorry. This has been the hardest part simply because we all have so many genes and genetic factors, there is not nearly enough research on all of them. David’s is a deletion of his 8th chromosome, the location is 8q21.3 deletion for any of my fellow nerds. Now what’s this mean? Good question. They don’t know. All the doctors could tell me is they have no idea what it means for my child and his future because it is so rare. Not enough research has been done. As someone who loves research and loves information, this was the most frustrating thing for me.
However, based on my own research, I found some groups of rare disorders and chromosome groups (please reach out if you need info) and was sent one other person’s name with the same deletion as David. I reached out and there are a ton of similarities there! It was such a beautiful moment for me because until now, we had no idea if anyone else had it. David and this beautiful little girl are the only two that have registered this deletion, at least through this one database. I’m sure there are more out there, but it’s very rare and unknown. Like David, she also is nonverbal Autistic. She shares similar delays as him, and is even more delayed in some motor skills. Knowing somebody else was out there dealing with the same exact things as us was completely refreshing!
The biggest reason for me creating this site is so none of us feel alone anymore. That alone feeling is incredibly isolating. It is my goal for us to connect and build a strong group of individuals to have companionship, to learn from, and to flourish with.
We eventually did get a consult with a neurologist and she did not believe David needed an EEG, much to my relief. However, it is something we will have to watch his entire life to make sure he does not develop seizure activity. I’m going to keep y’all updated on the doctors as we go along, and hope you’ll consider subscribing and commenting along on our journey with autism and all that it involves!
So what’s the next step for you? I’m sure the doctors told you what to do, but they usually give you so much information, it can be completely overwhelming. My advice is take a deep breath. Breathe, momma. You’re doing amazing. Your child is perfect. Therapy is important, but nothing is going to change over night so do not stress. When you feel like you are ready, reach out to therapists in your area. Get on those waiting lists. Do your own research, though. Figure out what will work for you and your family. Many therapists have come to me, wanting to work for 20+ hours a week with my child. We do 6 hours a week now, and that’s plenty for us. My son shuts down. I will not push my three year old to work a part time job in therapy. It’s just not for me. However, you find what fits for y’all! There is no universal answer because everyone’s life is so different. Also, try not to look at this as an ending. I’ve seen many say they mourn the lives their children will never have. Try not to look at it like that because there are so many interventions out there. It is not the end. It is a hard, but beautiful, new beginning.