Today we are talking about getting a second opinion and why that could be one of the most important first steps of your autism and epilepsy parenting journey. Whether your child has received a diagnosis or not, it’s always a good idea to get another persons’ perspective in your child’s treatment plan. I will share what giving a second opinion has done for our family and what it might have looked like if we never went down that route. If you have been on the fence about getting someone else’s thoughts about what’s going on with your child, this episode might help you rethink why it would be a good idea to look into it. Welcome to the first episode!
This topic is one of the foundational pieces that we as special needs parents need to get down. When I first started this journey with Remy, I didn’t even know what to do. When you are beginning the journey, finding doctors and treatment plans is just something you have to learn.
The Three Pillars of Special Needs Parenting
When it comes to raising children with epilepsy or autism, there are three pillars we should focus on.
- The first pillar is getting the right doctor, school, therapist, treatment plan, diet, and medical equipment. Navigating all of that is one of those foundational pieces. We really need to learn how to be the best advocate for our children so they can live the best life that they can.
- The second pillar is caring for your child. This one you can relate to any neurotypical kid as well. Taking care of them, driving them to school, making them food, clothing theme, nurturing them, loving them, playing with them and creating a bond.
- The third pillar is self-care as a parent. This is my favorite of the topic which is why we will spend so much time about it in the podcast.
Our First Diagnosis
Remy had a neurologist in the Sacramento area. She was given to us because she was the one that we saw when Remy first went to the hospital. We decided to continue following up with her because she knew Remy’s case.
They tested Remy for possible genetic reasons why she was having seizures. The neurologist went over all of the tests and said that they came back negative. She said they had no idea why Remy was having seizures and that the only thing we could do is watch for seizures and bring her back. When we left, there was something that felt like, there’s GOT to be more.
Getting a Second Opinion
I remember an episode of Oprah where Doctor Oz was on her show. The topic of this show was about getting a second opinion. The whole message of the show was that if you get a diagnosis, you always have a right to get a second opinion. This show came to my mind after this appointment. I talked to Zach and told him we should go to someone else. With Remy, her seizures were so bad that I couldn’t accept that no one else knew what it was.
I just started googling top neurologists and I found one doctor that on paper looked like she would be the best person for at least pointing us in the right direction.
When we went to the appointment for the new neurologist and we explained EVERYTHING about what we had experienced. We talked about the hospital, how she stopped breathing, we described her seizures, and the doctor asked tons of questions. We gave her all of the paperwork we had and it had a list of all the genes she was tested for. She looked over the list and said that there was another gene we should test for. She said it was a gene called PRRT2. When we left the appointment, we were blown away because she had tons of ideas with the treatment Remy was getting and asked questions that no one else had ever asked.
What We Discovered About Remy’s Diagnosis
We got a call from our neurologist and she told us that she sent off for the gene test and she had the results and knew what Remy has. She asked if the other neurologist had told us anything and we said NO. She said that Remy has pcdh19. It is one of the more severe forms of epilepsy. She couldn’t understand how the other neurologist missed that. It changed things entirely as far as the medication and seizure plan, so we were going to have to put together a new plan for her.
After I knew what Remy had, I researched EVERYTHING about pcdh19. I found a non-profit organization called The PCDH19 Alliance and it described the symptoms of the genetic disorder and showed ways to connect with other families. The first person I met was the president of the organization named Julie. We talked for a couple of hours one night and I was blown away. She was describing her daughter’s seizures exactly like Remy. I hadn’t heard of anybody else that had them like Remy before.
How a Second Opinion Changed Our Lives
I will never forget the day Remy got her diagnosis and I was shocked that the other doctor had missed such a huge piece of the puzzle. Had Remy not gotten that second opinion, we would have still been with the first neurologist, and who knows where we would be?
What the diagnosis gave us and what the second opinion did for us brought us to the other families that were going through the same thing we were. And our new neurologist had other patients with similar cases and so she had a really good idea of how to treat Remy.
PCDH19 Epilepsy is a rare epilepsy syndrome with early-onset seizures, cognitive and sensory delays, and behavioral problems. It is caused by a change or mutation of the PCDH19 gene found on the X chromosome. Seizures tend to occur in clusters in the beginning and can vary a lot, lasting from days to weeks in some children. Status epilepticus can occur which is long or repeated seizures that can last anywhere from 20-60 minutes. Seizures that last this long are really bad for your brain and the potential for brain damage is really high. It makes it almost impossible to stop once it gets that long. So the goal is to make sure that we can get them to stop. Unfortunately, the only thing we can do right now is to give drugs.
- Knowing about Remy’s specific genetic seizure disorder was the result of getting a second opinion. So if you have a feeling that’s telling you that maybe there is more for your child, listen to that. The worst thing that can happen is that you don’t find out anything else.
- There might not be an answer that you are looking for with a different doctor, but it doesn’t hurt to try. Even if you get your child tested, they might not find anything out now, but that doesn’t mean they won’t in the future.
- Follow your intuition and do your research on other doctors that can possibly give you better answers or ideas about what could be going on with your child. Don’t get discouraged and just take it one step at a time.
- PCDH19 Alliance is an amazing organization that will help you connect to other families that are experiencing the same thing with their children. It can help you to learn so much about the genetic disorder and many important resources.
- The three pillars of special needs parenting are getting the right treatment, therapy, and help for your child, taking care of and loving them, and practicing self-care. Each of these pillars is so important to functioning as parents of our amazing kiddos.