Community Voices Spotlight
Tim and Theresa Brozis
Parents of Juniper, ASMD
Tell us a bit about you and your family…
We are the Brozis family! Tim, Theresa, and Juniper. We live in the Chicago suburbs. Tim is a Chicagoland native and I’m Theresa, an IL transplant from FL. Juniper is our beautiful, adventurous, and very very determined three-year-old. She recently started preschool however, we love and still get together with her daycare “besties” from our neighborhood.
Juniper is an animal lover through and through, since she’s grown up hearing the neighbors’ 2 dogs barking (inspiring a fervent adoration of dogs) and around a growing family of pets, whose care she is very insistent upon helping with: Violet (beloved bunny), Max (guinea pig), Mocha (cat), various fish, Pepper and Daisy (chickens). She also loves being outside, painting, and puzzles. Tim and I met while working at Starbucks, so a family “hobby” is coffee shop touring the Midwest. Don’t worry, Junie gets a donut and very much loves coffee shops too (how 3 going on 13 of her!). It goes without saying that Tim is a huge Bears fan and has loved bonding with his little football buddy.
Sharing Your Family’s Diagnosis Journey
We received Juniper’s diagnosis via newborn screening. I know our story is different due to NBS in Illinois, so our path to diagnosis was short, however tumultuous and emotional. In all honesty, I am still processing…
I distinctly remember sitting in the hospital bed watching while the newborn screening test was being done, thinking, “wow, what a mundane, routine, insignificant test,” and “could you be more gentle poking her heels, please!?” How wrong I was. She was only about a week old when the pediatrician’s office called to say there were abnormal results from the newborn screen. We needed to follow up with the children’s hospital, but it was probably nothing. The next few days were a blur, her genetics follow up was scheduled, a fellow from the hospital called separately to tell us more about Niemann-Pick Disease or Acid Sphingomyelinase Deficiency (“what, these are so many unfamiliar words. Tim, hold the baby so I can take notes but the ped’s office said we probably wouldn’t need to worry – it was just a follow up.”).
Tim and I had very different expectations going into our first appointment with the geneticist (I, being misled and holding on to any hope that things would go back to the way it was before we had received any of these phone calls, and Tim, thinking we’d hear the worst case scenario). So, when Juniper was two weeks old, she had her first genetics appointment. The genetics team told us about the abnormal results from her NBS were not a fluke but rather a diagnosis of ASMD. It has always been horribly ironic to me that she was just two weeks old when we learned that two weeks would be a significant marker of time in her life; for whenever she starts infusions, she will need enzyme replacement therapy every two weeks for the rest of her life.
Now that she is 3 and so far doing all the typical three-year-old things, the hospital visits have become emotionally easier and less frequent. The last couple of blood draws, she didn’t even cry and she completed her first ultrasound last Fall like a pro! We have full confidence in our team as they monitor her levels, learn more about the progression of the disease from birth, and advise us of the next best steps.
How did you first learn about NNPDF, and what led you to connect with the community?
After confirmation of Juniper’s diagnosis, I immediately needed to connect with anyone who could speak from experience about having a child with a rare disease. Our genetic counselor informed us about NNPDF and even after being connected, I quickly found that the experience of a newborn diagnosis was few and far between. Still, I yearned to have a better understanding of the disease and find people with more experience both in parenting and rare disease knowledge than me. While browsing the website, I noticed that the 2023 conference was upcoming. My mom and I met in Orlando, FL for the conference, 6-month-old Junie in tow.
While we haven’t been able to make it back to another conference yet, the journey does feel a little less lonely knowing there is a community of other families whose lives have been forever changed by Niemann-Pick Disease.
How has being part of the NNPDF community supported your family?
Everyone I have met through NNPDF just exudes the comfort and understanding that I craved. Every interaction has been so validating for me, that there is hope, this is a rare and confounding experience, we are not alone in this. Juniper’s circle of support has grown, though she is not aware yet. I just feel seen and am so grateful.
The regional Family Event at our local children’s hospital was momentous for us because we met other NBS families and families that are much further in life than we are, and reps from the field.
What advice would you share with a newly diagnosed family?
Take care of yourself, figure out what that means for you, do it, and be present. Your beautiful, wonderful, amazing baby is still beautiful, wonderful, and amazing regardless of this diagnosis.
What are your biggest hopes for the future for your family and the Niemann-Pick community?
For our family, I hope that we raise Juniper to be fearless always and that we continue to grow as advocates for her and others. I hope that we are able to attend as many NNPDF events as possible to connect with others and share experiences. It’s incredibly important to us that Juniper knows other people with a rare disease, let alone her own rare disease. Our hope for the Niemann-Pick community is that all our personal connections will grow, as well as connections to support programs/resources/services, while the research for treatments and cures evolves.
