About our family

My wife and I have two sons, Greg and Mark, born in 2015 and 2018 respectively. We live in Athens, Greece.

A short backstory

Diagnosis of the disorder

A little after his first birthday, Mark was diagnosed with hypotonia (decreased muscle tone) and hyperlaxity (joints stretching farther than normal). At 17 months old, we visited a geneticist and got Mark a whole exome sequencing (DNA scan). The finding—MRT66—explained his hypotonia as well as his delayed development in communication and intellect. The disorder was to entail intellectual disability (formerly known as mental retardation) and possibly autism.

Characteristics of autism

Indeed, Mark always showed minimal to no signs of communication: no speech and no finger-pointing. During Greece's first COVID lockdown in March 2020, Mark stopped having eye contact with us for 2–3 days, which terrified us and got us preparing ourselves for a heavy case of autism. Fortunately, his eye contact was restored once we started having walks around the neighbourhood.

Still, Mark showed symptoms of the autism spectrum disorder: his eye contact was weak towards strangers; he developed stereotypical behaviours, like hand-flapping and bouncing his back against the car seat; he hit himself when in distress or pain. Doctors seemed to tap-dance around a clear diagnosis, due to his young age, but did include "elements of autism spectrum disorder" in their evaluations.

Gastroesophageal reflux disease and esophagitis

Mark was never a sleep champion, but the worst was yet to come. When he was about 18 months, our nights turned to sleepless nightmares, with Mark crying inconsolably. It took us a while until we realised that he had been suffering from gastroesophageal reflux disease, which had culminated to esophagitis. He was hospitalised and started medication, which he is still on today.

Greg's journey

At the same time, 5-year-old Greg was embarking on his own journey to deal with having a disabled brother—one who would not play with him, as he had been expecting during mum's pregnancy. Moreover, his parents seemed so consumed by that kid who stayed awake crying. Anger and frustration were the natural responses; also, his stress manifested physically, as breathing difficulty or nervous tics.

Today

We have sought help for both kids; Mark goes to a special school, as well as his speech, physio, and occupational therapy sessions. For Greg, we have consulted the school psychologist, and he currently goes to play therapy, let alone his own creative activities: basketball, piano, and the school's theatre team. We do our best to stay vigilant and tend to the needs of both.

But we still do not sleep much. And there is a lot to do, regarding taking care of ourselves. And the whole thing is quite scary, when you sit and think about it. And it takes effort for us, the couple, to remain a unified front.

Sharing what we know on this blog surely helps us. MRT66 is super rare, but who knows? This blog may eventually get around helping others, too.