Jack’s Story

SLC-Jack1Jack is a very happy, curious, and busy 5 year old boy! We received his SLC6A1 diagnosis in June of 2017. We spent a couple of years trying to figure out what issues he may have going on. Jack was born at 36 weeks and was healthy. The first thing we noticed was that Jack could not support his head as early as most little ones can. Our pediatrician really noticed it at his three month checkup. She sent us to a neurologist associated with Children’s National Medical Center, here in DC. They were going to test Jack for Muscular Dystrophy. That test came back negative, but we were told that he has low muscle tone and we should start physical therapy to help with that. I had no idea how physical therapy would work on an infant, but I got him and appointment. Jack continued PT for about 1 ½ years and it did help him! We worked on sitting up, which he did at about 10 months old. We also worked on walking, which happened at 22 months old.

When he was around 1 or 1 ½, I noticed that he was falling quite often for no apparent reason. I mentioned it to one of the pediatricians at the practice we go to and he told me that babies trip all the time around this age. I said that he wasn’t tripping, he was falling. He again repeated the same thing and sent me on my way. I mentioned it to the PT and Jack did it while we were at one of his therapy sessions and she saw why I was concerned. There was no rhyme or reason to the fall. It just happened out of nowhere while he was just standing there. I went back to the pediatrician, this time a different one at the practice, and mentioned it again. She told me that it sounded like atonic, or drop, seizures but she had never actually seen one before. She told me to mention in to the neuro as soon as I could. So, I told the neuro at the next appointment and she said it sounded like I was describing drop seizures, but they are quite rare. We would do an in office EEG and if that showed anything, we would do an extended EEG. Well, our in office EEG showed some irregularities so we were sent home with the equipment for a 24 hour EEG, which showed seizures. So, next we got an MRI. That appeared normal, but our EEG got the interest of a neuro-geneticist at Children’s National who wanted to do some genetic testing because he thought that perhaps Jack had Angelman Syndrome. I had never heard of this before. So, we got the test and it came back negative. Next he wanted to do an epilepsy panel (another round of genetic testing that would try and catch any genetic issues that could cause seizures), this too came back negative. He also said that we should start Jack in speech therapy because he wasn’t really talking. Jack has also been given the diagnosis of Childhood Apraxia of Speech, which he is still receiving therapy to help with. At this time, the doctor didn’t want to do anymore genetic testing, but I did!! He said to wait a year, but that wasn’t what I wanted to hear. It seemed impossible to me that Jack could have low tone, developmental delay, apraxia of speech, and seizures and none of it be related! Something had to be causing all of it! I decided to go and see some doctors at the Kennedy Krieger Institute in Baltimore. We spoke with another neuro-geneticist who was very interested in Jack and wanted to do the whole exome sequencing test. We got our results on that one and Jack was diagnosed with a spontaneous mutation on SLC6A1. We finally had our answer that explained everything that was going on with Jack.

We never know what is going to happen day to day, but most of our days and happy days! Jack has had the atonic seizures along with absence and myoclonics. We have tried many different meds and now are only on 1 and we haven’t seen a seizure in almost a month! We continue with speech therapy and he is making so much progress. Jack will also be starting kindergarten in the fall! Cognitively, Jack is like a three year old, but we are all excited for next school year. He will be in a class for intellectual disabilities but spend time in the general ed class for all of the fun stuff J

Jack is extremely social, very funny, and very affectionate. He is a blessing to our family and has taught all of us so much. I am excited to see what life has in store for Jack and the big contributions he will make to this world.