By Whitney Pacheco, PHACE Syndrome Community Board of Director
The PSC’s National Conference last June was where I shared my family’s story. I shared the journey from the anatomy scan, seeing our baby girl’s adorable and perfect toes. I talked about the ultrasound tech who became noticeably less chatty as she was spending a lot of time looking at our baby’s head, particularly the back of it. I won’t forget the moment I asked the ultrasound tech, “Is everything ok?”, and her forced smile, “Oh, yes, I’m just having a hard time seeing the back of her head, we may have to refer you to a specialist with better equipment just to be sure.”
It became instantly clear, there was definitely something to worry about. As with many families, hearing the term “PHACE syndrome” starts the endless nights of reading, researching, and trying to find answers. The first six months of Mira’s life were ROUGH. Besides the chaos or juggling appointments, medication, and dealing with rude comments from strangers, we also felt extremely alone. The usual village of fellow parents that you bring your questions to weren’t able to answer ours. While they could tell you about how to avoid diaper rash, we were up at night reading about the signs of stroke in infants and researching physical therapy options in our area. Worst of all we were plagued with the fear that the isolation we were feeling as parents would be nothing compared to the isolation Mira would feel as a child with a rare syndrome and a visible physical difference.
The day we stumbled upon the Facebook group for the PSC, I was in tears. There were other families, other children, other babies that looked just like Mira. People were asking questions and the answers were supportive, kind, and plentiful. We saw pictures of kids with PHACE syndrome playing sports, starring in school plays, and most importantly being joyful and happy. And not only was there a village of families to draw support from in the Facebook group, but there was an entire website filled with resources and information about research being done. In an instant, the constant, seemingly unmanageable worry that we had been carrying since that day at her anatomy ultrasound started to shrink. We weren’t going to be alone on this journey, and neither would Mira.
Since finding the PSC I’ve discovered that our story is not rare because of the symptoms Mira has (PHA), but because of our access to specialists with PHACE syndrome experience, and their proximity to where we live. Many PHACE syndrome families have to travel hours, or even fly to other countries, to find care for their child, and that’s if they are able to get a definitive diagnosis in the first place. The six months we struggled with isolation was long. We know there are numerous families who didn’t find our community until their children were 2, 9, or into their teens.
Some new members of the PSC are adults with PHACE syndrome that spent their whole lives without the answers that are so easily obtained now.
Many families have also experienced first hand the outreach and research work the PSC does and how it is so vitally important.The outreach that the PSC focuses on, including awareness and community building, such as the National Conference is so important to families with a PHACE syndrome diagnosis. In spreading awareness, the PSC strives to ensure that families don’t have to struggle to find doctors who have heard of PHACE syndrome. The PSC works to make sure more medical professionals will recognize the signs of PHACE syndrome early on in the care of their patients, and get them the testing and treatment they need.
Expanding and enhancing our community will enable us to better connect with more PHACE syndrome families and late-diagnosed adults who are currently isolated and in dire need of support. The PSC allocates a significant portion of its resources to advancing research. Previous research has contributed to identifying symptoms, developing treatments, and establishing care protocols. Ongoing and future research aims to address various inquiries regarding long-term effects, innovative treatment approaches, and the underlying cause of PHACE syndrome.
We are proud to support the PSC.
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