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Located: United States
Delayed myelination, Developmental delay, Febrile seizures, Laryngomalacia, Overgrowth

Kevin was born two weeks early by C-section and was 8 lbs 13 oz. Right away I noticed his feet—they were turned in and blue. The doctors told us not to worry. His Apgar was nines across the board. Once we got him back with Mom, we noticed he also had trouble latching—so we were forced to go to bottles right away. It’s then that we noticed he had stridor while feeding. Again the doctors were not too concerned. We were finally sent home—delighted with our beautiful baby boy. We noticed that his stridor was not going away and always got worse with feeding. So during a visit to his pediatrician we asked about it. She looked and diagnosed Kevin with laryngomalacia—a floppy airway upon inhalation. We thought, Ok, we can work with this and went home.

A few months later, I started to notice his head control was pretty poor. He was almost six months and unable to sit or hold his head up for very long. Everyone told us kids develop at their own pace and to give it time.

At 12 months, Kevin was not sitting on his own yet, but he had achieved head control. He had one word, “Mama,” and only when he cried. His pain tolerance was extremely high and everyone told us he was such a good baby—never fussy and he only cried if he was really, really agitated.

At 13 months, he had his first seizure just after falling asleep for a nap. We rushed him to the hospital where the doctors did the basic review and told us it’s probably just febrile and not to worry. A few days later, another seizure—so back to the ER. Again, they said it was febrile in nature and not to worry.

About two weeks later, Kevin had three seizures in one day (associated with fever again), so we said, enough, took him back to the ER, and they finally admitted us. They did all the basic tests and blood work—all of which were negative. They did a CT scan and an MRI. The MRI came back abnormal. There was some delayed myelination and a few areas of concern for white matter issues. Aside from that, they were not able to provide any more information, scheduled more blood tests, and sent us home. This was March 2015.

This did not sit right with us so we went into high gear contacting anyone and everyone that we could. I first spoke with Dr. van der Knaap in the Netherlands, an expert with pediatric leukodystrophies, and she sent me to Dr. Van Haren at Stanford University. The drive was eight hours each way but we did it. He and Dr. Enns at Stanford met Kevin and suggested this did not appear like a leukodystrophy but instead was possibly Sotos or Fragile X, or we could have whole exome sequencing done. So we went back home. We eventually did have a follow-up MRI done that showed good interval myelination and no additional areas or worsening. This also allowed Dr. Van Haren to comfortably say we’re most likely looking at a static disease.

While we continued down the road for an answer, Kevin started sitting on his own at about 15 months with the help of physical therapy, and finally started crawling at 17 months. At this point, he was receiving speech and physical therapy for his delays. He still had major trouble with his balance and in fact would tend to fall straight back like a plank if we let him while standing. Physical therapy helped tremendously, however; in just 3.5 months, he went from barely being able to hold his head up to starting to crawl and starting to pull up. He started taking about 20 steps between his father and mother and then collapsing if he lost his balance rather then falling back.

Back to the diagnosis journey. We stayed in touch with Dr. Van Haren throughout the year and saw other doctors, trying to find an answer. Many diseases were considered at this point by his providers: Sanfilippo, mucopolysaccharidosis(MPS), cerebral palsy, etc. We finally had the blood draw done for whole exome in September 2015 and

were told that results would be available in February 2016. So again, we waited. By some miracle, however, we got the results in December 2015 and that’s how we found Kevin has the DNMT3A mutation.

Kevin was 23 months when we found his diagnosis, and he was still struggling to walk but he was doing a little better, though not fully unassisted. He still could not communicate very well but his receptive communication was good, and he could understand most of what we were saying.

After the diagnosis, we started working with sign language to be able to communicate. Kevin picked it up so quickly and soon he was able to tell me when he wanted “more” of something or if he was “all done.” This helped so much so he wouldn’t be frustrated because we couldn’t understand what he wanted. His favorite thing to ask for though was a “cookie.” He learned that one right away.

Through the years Kevin has continued physical therapy and speech. He started walking unattended just a week before his second birthday. He was still not talking but he was learning more signs in sign language to communicate.

At three he started going to special ed classes for half the day. There were problems because he could not communicate with anyone because no one could understand sign language. He was not using sentences, just single words to request items. That school was not working out at all.

A few months before his fourth birthday we made the decision to move to Texas to better his education and to be closer to many more families with kids the same age as Kevin with the same syndrome. Once he started attending the new school, we noticed significant changes in Kevin. He did start to try to communicate more and understand more. Kevin still had problems with his balance at this age.

Five years old was an amazing year. Kevin’s vocabulary just took off! He started talking and saying words we never imagined he knew. He started trying to run—we never even realized he couldn’t run before. He was still receiving physical therapy and speech therapy. We were evaluated for occupational therapy and were approved.

Kevin is six years old now and he uses consistent five-word sentences and sometimes more, but not too often. He has learned how to use the spoon to have cereal, though still making a little mess. He knows how to use a cup but he still uses a metal cup with a lid and straw. Kevin only uses sign language now if he feels like it, as he does not need it, though he has learned new signs even after starting to talk. He is a happy little boy, knows his ABCs, can count to 20, and knows his colors. He can hold a pencil the right way but he still cannot write and he cannot stay inside the lines while tracing. We don’t know which hand is his strongest yet. Kevin still has a little bit of problem going up and down stairs and playing in the playgrounds. He does not understand the way things works sometimes. The older he gets, we can see how much more he is looking like the other TBRS kids. His attitude has also started to show, lol.

Kevin likes to be on his tablet, and this is allowed for him because he has learned so much from the shows he watches. It has helped him with his ABCs, numbers, and colors. He learned the ABCs in sign language through Youtube, believe it or not. He watches a lot of educational shows on TV as well. He still has a long way to go, and we have no doubt that he will thrive as he gets older. He is 4 feet tall and weighs 63 lbs. He has not had any seizures in four years. Kevin loves everyone, especially babies, and he enjoys singing, dancing, and giving hugs. He is amazing.

Written by his parents Karen and Jayson.

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