We have three kids – my oldest daughter is 11, then my next daughter is 9, and my son Madden, who has special needs, is 5 years old. When my wife was pregnant with Madden, she felt that something was different, so we did some testing during her pregnancy. One test indicated he could have Down Syndrome, but more extensive tests came back negative.
For the first few months, Madden was the perfect baby. He didn't really cry and was happy all the time. Around six months, we noticed he wasn't doing as much as our daughters had – he wasn't as active, didn't babble. Our doctor mentioned that he was a little delayed at his six-month appointment – but my wife and I both thought, no, he's fine. Three months go by, and at the nine-month appointment, the doctor said he was even more delayed and recommended a helmet because Madden had a flat head. We got the helmet, and another few months went by. We saw the doctor again, and he noted that Madden was getting really delayed. So, we signed him up for some therapies, and one of the doctors suggested that he might have Angelman Syndrome. All the symptoms of Angelman Syndrome were just like our son. They are happy, and they love water – from when our son was a baby to today, he loves water. They like to be around people. They flap their arms. They have global developmental delays.
We tested Madden for Angelman, and it came back negative. We didn't know at the time that there are multiple ways to test for Angelman - one is for a deletion of the gene, and one is for a mutation. The deletion is the most common, so that was the test Madden had.
Well, we thought, what does he have then? That sent us on a journey.
After that, we had therapy after therapy, test after test. Madden had an MRI, EEG – I even had testing done. We moved from Utah to Texas, got brand-new doctors, reached out to different people, and continued this road of more and more testing. It went on like this for another two years.
The doctors told us that we might never know what's wrong with our son.
That was probably the most painful - thinking, okay, my son is different, but we will never know. That was hard.
When Madden was four and a half years old, he started to have mini seizures, so our neurologist wanted to do an overnight EEG and run another test for Angelman Syndrome. Instead of testing for the deletion like the first test, she wanted to test for the mutation.
Why didn't anybody ever suggest that to us? Knowing about the other genetic test could have saved us years of searching. We tested Madden for the mutation of the gene, and it came back positive. So finally, when Madden was four and a half years old, we confirmed his diagnosis. He did have Angelman.
Since his diagnosis, the community has been incredible. When you've never been a part of something, and you're on the outside looking in, you always think you understand what they're going through, but the reality is that you don't. We have great friends, we have great family, but they don't necessarily understand the dynamics of everything that we're going through. The only people that do are those who have special needs kids or special needs siblings. Having a community where they know what you're going through, and you can reach out and talk to them. It's just a huge help.
For parents or caregivers still seeking a diagnosis, I would give two pieces of advice. Number one - listen to your gut and believe it. My wife and I both felt that he had Angelman Syndrome from the day we learned about Angelman Syndrome. Number 2 - find a community and hear from other people. We started an Instagram for Madden, and people would reach out to us all the time, some with a diagnosis, some without, and say we're on the same journey as you to figure this out. If you believe that your child has a particular diagnosis, navigate that, do your research, and push. Finding stories and sharing them is essential because there are parents out there with kids with special needs who don't have a diagnosis, and your story could bring them closer to finding answers.
Learn more about Angelman Syndrome.