About Us
Welcome to Chasing Progress, a blog dedicated to the journey of a mom and her son with Kleefstra syndrome.
My name is Shelly-Ann Savage, and I am the proud mother of a child diagnosed with Kleefstra syndrome, a rare genetic disorder that affects cognitive and physical development. Through this blog, I hope to raise awareness about Kleefstra syndrome and provide support to other families who are going through a similar experience.
Our Latest Blogs
Happy Mother’s Day!
Last Mother’s Day, I found myself in a place of profound sadness and despair. The night before Mother’s Day, our son experienced a seizure, and despite administering his rescue medication, it failed to bring relief, resulting in a grand mal seizure, the most severe I...
A Very Happy Birthday
Last week we celebrated Sylas’ 9th birthday. And it was such a special moment for him and for me, as his mom and caregiver. For the very first time, Sylas had a birthday party with HIS friends! No family members. And no children of close friends that he’s not really...
Feeling Frustrated with Unpredictability
May 23rd, 2023 was a day of frustration and despair for me. The unpredictable nature of seizures has left me feeling helpless and overwhelmed. My son has been battling seizures for the past two years, and just when I thought we...
What is Kleefstra Syndrome?
Kleefstra syndrome, also known as 9q34.3 deletion syndrome or Koolen-de Vries syndrome, is a rare genetic disorder caused by a microdeletion or mutation on chromosome 9q34.3. It was first identified by Dr. Tjitske Kleefstra and her colleagues in 2005.