Our daughter Parker was diagnosed with a rare genetic syndrome; Malan Syndrome a little before she was a year old. There are currently around 125 individuals diagnosed worldwide.
At 4 weeks old we began to notice some issues with Parker’s development; Poor head control, strabismus and downward gaze and increase in head size.
With help through her pediatrician we were connected with Boston Children’s Hospital. There we began the journey of seeing multiple specialist. With not many answers, we were referred to the Feingold Center at BCH to inquire about a possible genetic condition. With the help of Parker’s geneticist we were able to do complex genetic testing; whole genom sequencing which helped us better understand Parker’s presentation.
Parker was diagnosed with Malan Syndrome a little before a year old. While we were finally glad to have some answers to explain her presentation, we were also left processing this difficult news as first time parents. After some time we were able to use social media to start connecting with other families impacted by this disease. With the use of social media We connected with three other parents and began working on establishing a foundation to support this rare disease: Malan Syndrome Foundation
When thinking about growing our family we turned to Invetro fertilization as a way to attempt to look at the genes. After three attempts we were successfully pregnant! At our 15 week appointment we discovered that the baby was to be born with a heart defect- tetrology of Fallot. Overwhelming feelings began to resurface about the unexpected needs that may present itself.
With these two diagnosis for two children, it thankfully brought my husband and I closer. We have worked together in navigating this unexpected journey and have two beautiful children who are happy, playful and adventurous children.