Shine Bright Together

Chromosome Disorder Awareness Week

12th-18th June 2016

Jamie has a small part of one of his chromosomes, chromosome 15 (15q21.3-22.2), missing
which means that his learning and development is slower than the average child.
Jamie was slow reaching his milestones. He was late sitting, crawling and walking and his
speech has been very delayed. Everything took a lot of time and practice. Just to have him sit
independently took many physiotherapy sessions and hours of practice.
At age 5 Jamie is mostly non-verbal apart from a few words that he likes to use often! He
communicates with Auslan Key Word Sign and gesturing. Even though he doesnt speak he can
understand what you say to him. He likes attention and being spoken to and will try to
communicate back using signs and gestures. He loves using his signs and having people
understand him. He has low muscle tone which has delayed his gross and fine motor skills and
has esotropia (eyes turn inwards) which he wears glasses to correct. He has to work really
hard to master new skills and has regular Speech Therapy and Occupational Therapy
appointments.
Jamie is a very happy boy with an infectious smile and laugh. He loves attention and is very
affectionate. He can be very sensitive and often doesnt like new situations. He likes routine
and knowing what to expect. He loves music, dancing, The Wiggles, playing at the playground
and doing activities with an adult or companion.
Deletions in the area 15q1515q23 occur very rarely: there are ~20 reports of patients having
deletions of this region and Jamie is the only known case of his exact deletion in the world.
Clinical manifestations in these patients are different, and there is no clinical syndrome
associated with these deletions. Children with a Chromosome 15 deletion are likely to need
support with learning, although the amount of support will vary. Jamies long-term needs are
unknown. The uncertainty of the future and the many unanswered questions is difficult.
There are days when I look at our gorgeous boy and think what if. What if he didnt have a
rare deletion that throws lots of challenges at him? What if he didnt have to struggle to learn
the everyday things that others find easy? But it is what it is and we are thankful for such a
happy and loving boy. He is unique and we wouldnt change him!
Although many chromosome disorders are rare, the wide range of chromosome disorders
combined may affect 1 in 150 children. We hope that spreading the word of Jamies
chromosome disorder will help other parents dealing with similar conditions to feel less isolated
or alone. We also hope to raise awareness of rare chromosome disorders and to share a little
about Jamies story so others may understand him better.