Preston and Victoria Byrne are special children. They’re happy and loving and bring tremendous joy to our lives. For many years, pediatricians and neurologists thought both were normally developing children, but this past year we finally pinpointed their issues. Both children have microduplication syndrome 15q, a chromosome abnormality in which there is an extra piece of chromosome on the long arm of the 15th chromosome. This has resulted in developmental delays and multiple physical, neurological and mental challenges for them.

Preston’s genetic duplication manifested developmentally as Asperger’s syndrome. He doesn’t have the seizure disorder many of these children have, but he does have non-obstructive sleep apnea and is being treated for a mitochondrial disorder. He also has an Arnold Chiari malformation for which surgery is not currently an option, and a pineal cyst. He suffers daily from issues related to hypotonia (low muscle tone) and movement disorders, both during the daytime and while sleeping, and has difficulty writing, concentrating, tolerating exercise and regulating his own body temperature. In addition, he has multiple developmental, behavioral, and learning issues (expressive/receptive language disorder, sensory integration disorder, obsessive-compulsive tendencies, dyscalculia and Irlen Syndrome). That’s a lot for an active ten year old boy to deal with.

Victoria, or Tori as we call her, has a similar story. Her genetic duplication also manifested developmentally as Asperger’s Syndrome. She doesn’t have any issues with seizures, but does have non-obstructive sleep apnea. We’ll know in a month or so if she’ll need to begin treatment for a mitochondrial disorder. Like Preston, she too suffers daily from issues related to hypotonia, has difficulty writing, concentrating, tolerating exercise and regulating her own body temperature and has multiple developmental, behavioral, and learning issues (expressive/receptive language disorder, sensory integration disorder, obsessive-compulsive tendencies and huge anxiety issues). Life with this five year old girl brings challenges on a daily basis.

The hardest part of all this is no one quite knows what the future will hold for them. The 15q duplication is rare, but Preston and Tori have a paternally derived interstitial duplication that is even rarer. Our hopes are to help them learn to accommodate and cope in the real world and maybe someday that they’ll have the opportunity to take on the world. Those hopes, however, are tempered a bit by the looming probability that one or both will develop a seizure disorder by age 15 and the fact that the apnea and mitochondrial issues present a greater risk of sudden death.

Each day that I get up to two happy, mostly healthy faces I give thanks, and each night they sleep through from moonrise to sunrise, I pray to God that they’ll have yet another day to celebrate. Maybe someday, someone will figure out the magic pill or treatment to help kids like Preston and Tori grow up with fewer daily challenges. Maybe…

Read about Preston and Tori online at Caring Bridge.

[NORD thanks Desiree Byrne for sharing this story.]