Hazel's Story

Our journey with Hazel has led us to want to raise awareness for this syndrome. We found out about Hazel’s diagnosis on March 22nd of 2024 via MyChart. Hazel’s diagnosis consists of a deletion on chromosome 17, 17p11.2 and FLCN which is associated with Birt-Hogg-Dubé Syndrome (BHD), which is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors.

As first-time parents, you can imagine what was going through our minds: What is SMS? What is BHD? I’ve never heard of this. Wow, the internet is terrible. Is this all true? Etc., etc. Hazel has been her pediatrician’s, PT, OT, speech therapist, pulmonologist, ophthalmologist, ENT, and cardiologist’s first case of SMS. This just shows the nature of how rare and unknown this syndrome is. Since Hazel was born, she has always been in and out of hospitals due to medical problems. At every check-up, she never met any milestones at an age-appropriate time. Though the journey ahead of us is unknown regarding how Hazel’s diagnosis of SMS and BHD will affect her, we want her to look back on her life knowing that her community loves and supports her.

Despite her diagnosis, Hazel is pure joy and love and brings smiles to everyone around her. She is resilient and her strength has given us strength at times where we didn’t have any. As her parents, we want her to be proud of who she is, diagnosis and all, and that she will get to have a day that is all about celebrating just that.

Janet & Trent Standard