Hayden was born on 2 July 2012. My pregnancy was unremarkable and he was delivered via scheduled C-Section due to his projected size. Hayden is the second born of our three children and is our only child with any medical issues.
Hayden weighed in at 9 pounds, 12 ounces. He slept a lot, was a great eater, very happy, and was easy going. Everything about Hayden seemed completely normal and he was hitting all of his milestones initially. Hayden rolled, cooed, sat up unassisted, and began trying to crawl at the normal timeframes. He seemed very strong and determined to be independent. However, as he got older, he began hitting milestones later and later until he began not meeting some of them at all. Hayden crawled at 9 months and began walking at 14 months, but with a very odd gate; almost robot like. Additionally, at age two, Hayden was far behind where he should have been verbally. He didn’t speak very often. When he did, it was usually one word. At times it was unintelligible. We spoke to his pediatrician at his two-year checkup. We were told not to worry and that he was just moving at his own pace and was just laid back. I didn’t think this was correct, but it did play to the thought that I was just over analyzing Hayden by comparing him too much to our first son Alex, who was advanced. So, I didn’t pursue it further.
By the time Hayden turned three, his speech was very noticeably behind other children. His fine and gross motor skills were behind as well. During Hayden’s three-year checkup, we saw a new pediatrician and requested a speech referral. The initial evaluation with a speech therapist took three months to get scheduled. During this wait we were advised to meet with our school district for an evaluation to see if he would be eligible for services. Hayden qualified for speech, OT and PT twice a week plus a special education preschool program.
Almost a year later Hayden was finally referred to a developmental specialist who diagnosed him with a mild case of Cerebral Palsy. This diagnosis did not seem to fully fit Hayden, but neither did anything else. I felt like we ran every test under the sun to try and get a definitive answer for him. He had two brain MRI’s, multiple blood and urine tests; all which were normal. Fragile X and CMA testing was accomplished too, again, nothing out of the ordinary to explain his issues. Then I learned about absence seizures from a friend who has a daughter with Angelman’s syndrome. Hayden has had moments where he seems to just space out for several seconds at a time since his birth. This prompted us to request a 1-hour and 24-hour EEG. Both tests came back slightly abnormal, but with no seizures occurring during either test. We were advised to just keep an eye on him and to be aware that based on the testing, it appeared Hayden was susceptible to seizures. Still nothing solid to explain his delays and odd behaviors.
My husband and I retired from the military and finally moved to Michigan in the summer of 2017. Upon this move, Hayden got all new evaluations from his Pediatrician, Developmental Pediatrician, Neurologist, Speech, OT, PT providers and special education providers. This lead to Hayden being given a Whole Exome Sequencing test, which finally gave us a definitive answer as to why Hayden is Hayden! KCNB1 Related Disorder. We are so thankful to our providers in this area for listening to our concerns and working so diligently to help us get an answer.
Hayden’s Clinical Indications:
Hayden weighed in at 9 pounds, 12 ounces. He slept a lot, was a great eater, very happy, and was easy going. Everything about Hayden seemed completely normal and he was hitting all of his milestones initially. Hayden rolled, cooed, sat up unassisted, and began trying to crawl at the normal timeframes. He seemed very strong and determined to be independent. However, as he got older, he began hitting milestones later and later until he began not meeting some of them at all. Hayden crawled at 9 months and began walking at 14 months, but with a very odd gate; almost robot like. Additionally, at age two, Hayden was far behind where he should have been verbally. He didn’t speak very often. When he did, it was usually one word. At times it was unintelligible. We spoke to his pediatrician at his two-year checkup. We were told not to worry and that he was just moving at his own pace and was just laid back. I didn’t think this was correct, but it did play to the thought that I was just over analyzing Hayden by comparing him too much to our first son Alex, who was advanced. So, I didn’t pursue it further.
By the time Hayden turned three, his speech was very noticeably behind other children. His fine and gross motor skills were behind as well. During Hayden’s three-year checkup, we saw a new pediatrician and requested a speech referral. The initial evaluation with a speech therapist took three months to get scheduled. During this wait we were advised to meet with our school district for an evaluation to see if he would be eligible for services. Hayden qualified for speech, OT and PT twice a week plus a special education preschool program.
Almost a year later Hayden was finally referred to a developmental specialist who diagnosed him with a mild case of Cerebral Palsy. This diagnosis did not seem to fully fit Hayden, but neither did anything else. I felt like we ran every test under the sun to try and get a definitive answer for him. He had two brain MRI’s, multiple blood and urine tests; all which were normal. Fragile X and CMA testing was accomplished too, again, nothing out of the ordinary to explain his issues. Then I learned about absence seizures from a friend who has a daughter with Angelman’s syndrome. Hayden has had moments where he seems to just space out for several seconds at a time since his birth. This prompted us to request a 1-hour and 24-hour EEG. Both tests came back slightly abnormal, but with no seizures occurring during either test. We were advised to just keep an eye on him and to be aware that based on the testing, it appeared Hayden was susceptible to seizures. Still nothing solid to explain his delays and odd behaviors.
My husband and I retired from the military and finally moved to Michigan in the summer of 2017. Upon this move, Hayden got all new evaluations from his Pediatrician, Developmental Pediatrician, Neurologist, Speech, OT, PT providers and special education providers. This lead to Hayden being given a Whole Exome Sequencing test, which finally gave us a definitive answer as to why Hayden is Hayden! KCNB1 Related Disorder. We are so thankful to our providers in this area for listening to our concerns and working so diligently to help us get an answer.
Hayden’s Clinical Indications:
- Global Developmental Delay
- Slightly Reduced Muscle Tone
- Ataxia
- Drooling
- Autistic Features
- He sleeps a lot, and if given the opportunity, will occasionally take naps even after sleeping for twelve hours at night. He does wake up in the middle of the night once in a while. Additionally, he never leaves his bed when he wakes up, even in the morning. He will usually just sing or cry to let us know that he’s awake.
- Hayden makes high pitched shrieks usually when he is really excited about something. He also talks or sings in a deep, overexaggerated voice.
- Hayden is happy and very sweet, but he gets frustrated and angry very easily. When this happens he usually throws himself on the floor and begins beating his head. If a family member is the source of his irritation, he may hit, slap, bite, scratch, kick or head butt the person. He has several of these meltdowns per day but he’s usually easily re-directed as long as you remain calm and patient.
- Hayden often drools and sticks his tongue out, especially when he is concentrating on a task that is difficult for him.
- He tends to move faster than his body is capable of carrying him, which often results in a fall or collision. And he doesn’t seem to be aware of his body in space and time.
- Hayden has a dairy intolerance.
- He also will cover his ears with his hands and sometimes will hide his head when there are loud noises or situations that he seems to be uncomfortable with, but sometimes he seems to just do it for no apparent reason.
- Hayden has almost an obsession with balls and things shaped like balls. Once he has seen one or is given one he becomes so focused on it that it’s all he cares about. He can be hard to redirect at those times.
- Hayden is still not fully potty trained and wears pull-ups.
- He also has a high pain tolerance. Sometimes it’s like he just goes to another place when he’s getting blood drawn or an IV put in.