PADDAS/PUM-1-Genetic Disorder
These Symptoms Makes You Wonder
Do you or a loved one have Seizures? Ataxia? Associated Developmental Delay? You could have a genetic disorder! In this article will discuss: our journey through diagnosis to present day, and what exactly is PADDAS/PUM-1 genetic disorder.
My son was born a week early due to a planned c-section. His umbilical cord was wrapped around his neck 4 times (a record for the surgeon)! He was sent home in 3 days with no complications, as he passed all the newborn screening tests they give babies. I was told there was no brain damage, even though, no testing was done to prove otherwise. When he was at the walking stage of his development, we noticed his first delay. Instead of walking, he started talking! He never crawled much either, but neither did his older brother, so that didn’t alarm us. I talked to his medical doctor because I was really concerned about it by then, but everyone around me said to give him time, as he had been hitting his other milestones normally. My gut told me otherwise. So began our adventure into our world of PUM-1/PADDAS/SCA47……..
By 18 months of age, after intensive OT and PT, he was walking (his great-grandmother birthday too)! She was pretty proud! By his 2nd birthday, I was having him tested for Autism. As the therapist said, at the review of our results: “there is something off, but not sure what it is, we don’t think autism, as he is too social. If things don’t improve for him, come back and have him tested again, around school age.” He was a bit young, but we had him tested anyway. I was told he’s on the spectrum, because he did have Sensory Process Disorder, but he was too social for autism. So, more OT, PT, Speech, etc. ramping him up for preschool, thanks to this diagnosis. Once school started the rages started and twirling started. He would not want me to leave, as we dropped him off for preschool.
Covid hit, and things changed with school, which made things much better for him, like staying home for a few months, then waiting outside in a line, instead of waiting in the hallways (just had an a-ha moment, his rage moments, wanting mom to stay, was probably brought on as the hall noise was very loud, and lots going on at once, caused overwhelm, or sensory processing overload).
The next year his OT also noticed that his hands were shaking as he was learning to write. Like a tremor. His older brother had just been diagnosed with Epilepsy so it was throwing flags to her to have him get checked out. We went to his medical doctor and two different neurologists who all blew us off. We finally got a diagnosis. This time though, each of my sons now had different types of seizures. So the neurologist was concerned about that. She set us down to discuss genetic testing to see what was causing this. A few counseling appointments, and testing with our family later: Our diagnosis: PUM-1 or PADDAS/SCA47 gene. This newly discovered genetic disorder, discovered in 2016, and ironically my son’s birth year. PADDAS named after its symptoms that are part of the genetic disorder. Which are:
So, what does this all mean? PADDAS is as the title explains Pumilio 1 deletion, Associated Developmental Disability, Ataxia, and Seizures. With PADDAS, you can have a few or all these symptoms. The earlier the symptoms start, especially if the seizures present themselves, the more severe it will be. As new parents, these terms are foreign, and hard to understand. I will try to break it down for you. Pumilio 1 deletion: are deletions in our proteins that can affect our ability to walk, and move which are called ataxia. Ataxia: affects our coordination. For example: our ability to touching our toes, our nose, our eyes, blink, write, cross over to touch our opposite side, etc. Associated Developmental Disability: the limits to a person’s ability to learn in cognitive functioning and skills. Seizures: a sudden burst of uncontrolled activity in the brain.
My middle son, has all the symptoms of PADDAS, and his symptoms started to show when he was around a year old. He has been in therapies and visited many doctors since his first symptoms started. From the start of his symptoms to our “official” diagnosis, it took us a long 5 years to finally get a name for his diagnosis, or genetic disorder.
My older son and I have less symptoms, and both of us didn’t show signs until we were much older. So, as you can see anyone diagnosed can have different symptoms and be affected by the disorder differently. In fact, didn’t know that I had the genetic disorder, or seizures, until 2021, in my forties. Because I only had one type of seizures and I also had migraines, it was never caught by doctors. My oldest son, though has multiple seizure types, his symptoms didn’t start until he was around 4, so he is not as a severe a case and does not affect his school and learning as much.
Now that you have a better understanding of PADDAS/PUM-1, could you or a loved one have it? As I mentioned earlier, this genetic disorder has only been around since 2016. Because it is so new, not many doctors or people have heard of it, or know much about it. The first thing you should do is to talk to your doctor and they will determine if you should get the genetic testing done.
Research from: www.pubmed.ncbi.nlm.nih.gov
This is wonderful!!! Thank you for continuing to bring awareness. As you know, there are very few that have this diagnosis. My Grandson being one of them.
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