Written by: Rachael Berzins, mom of four different needs children, a wrangler of various animals, living in the mountains in Northern California with a passion for advocacy and community.

Our beautiful twins were born nearly 5 years ago, on New Year’s Eve. Their entrance to this world was a rollercoaster but no major intervention was needed thankfully. But as time went on, symptom after symptom kept appearing that we couldn’t explain. The twins struggled with things such as vitamin D deficiency and anaemia. With a history of concerning maternal genetics, genetics had been on our radar since conception.

 

However, genetic testing during the pregnancy did not reveal anything related to this variant, as this was paternally inherited. There were also concerns for atypical neurological symptoms, and as time went on, developmental delays. We are still uncovering the twins’ full picture alongside their medical team. But it has been a journey.

 

When the twins were around age two and a half, we got a call stating there were positive genetic results. Never did we think we’d leave an appointment with a likely pathogenic variant doctors could not really explain the full implications of. 

 

They suggested we find or make a Facebook group if there is not one, as they admitted this burden often falls onto parents. I also found the VGCCC, a place that connects parents to doctors and researchers in the scientific community, as well as helping us find others like our families. 

Our children have many things in common. One thing they all share for certain is having parents who love them. We are all here to learn together while we’re navigating different variations of our children’s unique journeys. 

 

Now nearly at age 5, the twins have both been diagnosed with Autism Spectrum Disorder with global delays. Every day, we are learning more alongside this developing community and the resources the VGCCC provides.
 

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