Dylan's Story
Dylan Nikol, who turned 3 in October, has a rare chromosome disorder called chromosome 6p duplication (or partial trisomy 6). Essentially instead of having 2 copies of chromosome 6, he has about 2.5 copies. There’s only about 50 reported cases of this, and probably only a handful of his exact duplication. Since it’s so rare, there’s very little out there in the literature, and a lot is unknown.
FROM THE BEGINNING
When Dylan was born, he didn’t open his eyes at all for the first 2 weeks, and no one knew why at that point. He was small, but proportionate , in terms of his height, weight, and head circumference. His soft spot on his head (anterior fontanelle) was also very full. At 6 months old, he was not rolling over at all, and we were referred to a neurologist. He had a head sonogram and brain MRI. His brain MRI showed some underdeveloped areas including his corpus callosum (which connects both hemispheres of the brain) and pituitary (which produces many important hormones), as well as some other structures that can be related to motor function. At that point we were referred to a geneticist and endocrinologist. His genetic workup took a long time to result (and felt like even longer), but when he was around 9 months old we found out that he has a chromosome 6p duplication, based on the results from his chromosome microarray.
Essentially instead of having 2 copies of chromosome 6, Dylan has about 2.5 copies. He has 88 genes total that are duplicated. Since this duplication is so rare, there is very little known about it, even by the experts. The hardest part of Dylan’s journey so far has been the unknown, since there is not much information available. It’s also hard to know if some of his little quirks are actually related to his duplication or not (i.e. not opening his eyes for 2 weeks).
WHAT DOES HIS GENETIC CONDITION MEAN?
HOW HAS IT AFFECTED HIM?
Dylan has had some gross motor and speech delays, most likely related to his genetic condition. He has been receiving services from Early Intervention since he was around 8 months old. He currently receives PT and speech therapy, and he has a special instruction teacher. He will also be starting vision therapy shortly. He started walking independently at 20 months old.
He has a mildly underactive thyroid, for which he takes daily medication, but so far the rest of his pituitary hormones are normal, despite his pituitary being small.
One of the 88 genes that is duplicated is associated with Axenfeld- Rieger syndrome, which can cause glaucoma in adolescents/young adults. He is followed by an ophthalmologist and has been wearing glasses since he turned 2 for near-sightedness and astigmatism. He also has droopy eyelids (ptosis).
He is currently followed by his geneticist, neurologist, ophthalmologist, and endocrinologist, as well as his pediatrician. He has seen a cardiologist in the past to rule out any congenital heart defects. He was also previously followed by a urologist for a congenital abnormality of his penis and had a surgical repair when he was around 1.5 years old.
Overall he has been making amazing progress with Early Intervention, and as we have learned he just goes at his own pace, which is okay. He’s the happiest, sweetest, strongest little boy with a contagious laugh, and that’s really all that matters.
UPDATES ON DYLAN FEBRUARY 2025:
Dylan started school at a special education nonprofit preschool in Sept 2024 and has been doing great and learning lots of new things everyday. He receives speech therapy, PT, and OT there. He's able to say 100s of words, put 4-5 words together, run, jump, kick a ball, stack blocks, and draw circles. He loves going to school, but is very quiet at school (although he talks all day at home!). He is currently in a half day program and will start a full day program in Sept 2025.
He is growing very well and has been taking synthroid (for hypothyroidism) for about 2 years. He is still monitored closely by his endocrinologist and gets all of his hormone levels checked routinely. He has been out of glasses for about a year and sees an ophthalmologist regularly. He is now far-sighted and still has a mild astigmatism, but as of now is doing well without glasses. He also still sees his neurologist and geneticist, and all of his doctors are very happy with how well he is progressing.
Some of Dylan's favorite things:
Favorite color - Blue
Favorite TV character - Elmo
Favorite songs - Mamma Mia and Dancing Queen by Abba, Hop Like a Bunny, Run Baby Run, Head, Shoulders, Knees, & Toes
Favorite toys - Matchbox cars, play kitchen, stepping stones, Elmo phone
Favorite activities - Coloring, going on the swing, riding in his car
We started this nonprofit to raise awareness of and support research for Rare Chromosome and Gene Disorders, including 6p duplications.