The Garay Family's Story
It was a typical day in the Garay family home when Ana noticed her youngest daughter, Annika, had gone nearly a full day without wetting her diaper after not urinating through the night before. It was January of 2015 and Annika was a year old at the time. A call to their family doctor led to concerns about Annika’s belly being distended and a possible blockage, landing the Garay’s in the hospital. This was the start of a year-long “process of elimination” journey which included visits with a range of specialists like pediatric gastroenterologists and hematologists, and uncomfortable exams, scans, blood tests and procedures. Ana and her husband, Eric, stayed strong and kept their support circle tight while watching their baby’s spleen continue to enlarge and her platelet and blood counts drop and managing scary potential misdiagnoses.
“We were determined to uncover what was going on with Annika. We worried how big her spleen could possibly get and that her fear of nurses, doctors and medical offices would continue to increase.”
Finally in January 2016, a bone marrow biopsy was ordered as a last resort. After reviewing the results, a geneticist familiar with Gaucher disease (GD) identified and diagnosed Annika. Given the role genetics play in GD, Ana and Eric’s older children received a blood test which confirmed that Annika and older brother, Diego (age 9 at the time), were both living with Gaucher disease type 1 (GD1); older sister, Sienna (age 5 at the time) was negative for GD1.
In hindsight, Ana and Eric remembered things that weren’t previously cause for concern. While generally asymptomatic and an active child who participated in activities like soccer and gymnastics, Diego often bruised very easily, and his weight tended to be lower than average. Annika also bruised easily and would fall asleep anywhere and everywhere; she had a low birth weight, and her nails and hair didn’t grow in the way Ana observed Sienna’s did.
“Diego would always joke that you would see Annika’s belly enter the room before you saw her. We just thought she had a cute little toddler belly.”
With a diagnosis in hand, the family began adjusting their lives to support the medical needs of Diego and Annika, while ensuring Sienna felt included as well. The family immediately received guidance from the National Gaucher Foundation (NGF) and were humbled by the outpouring of support from their local community in Albuquerque, New Mexico.
“We focus on transparency with our family and equip them as much as possible on what living with Gaucher disease means. Annika will never know anything different than a life with GD1. Diego had experiences before Gaucher and telling him about his diagnosis was one of the hardest things we’ve ever had to do; it’s had a large impact on him. We make it a point for Sienna to feel involved and she’s embraced a caring and supportive role.”
There have been challenges along the way: insurance changes and coverage limited Diego and Annika’s access to care facilities and specialists experienced in Gaucher disease. The logistics of pulling the kids out of school to receive bi-weekly infusions in an outpatient center also needed to be managed.
The family pushed hard, advocating for themselves to eventually receive approvals for Diego and Annika’s care to be managed by a specialized geneticist and out-of-state GD specialist. These providers helped guide the family make at-home infusion care a possibility, which overall, has been a gamechanger despite hurdles with port-access and the stability of in-home caretakers. When a member of their medical care team retires, makes a geographical or career move, or takes a vacation, it is a difficult transition for the family.
Today, the Garay family is focused on advocating for the best care possible for their family and others with GD1. At-home infusions allow them to travel to GD conferences and their annual appointment with a GD specialist in Connecticut. These opportunities allow Diego (now 16) and Annika (now 10) to meet other kids like them and Sienna (now 11) to shine in her role as family cheerleader. The family makes it a priority to build sight-seeing, fun experiences and bonding time into these trips.
The Garay’s are incredibly thankful to the various Gaucher disease advocacy groups, including NGF and the Gaucher Community Alliance (GCA), and for the doctors who have dedicated their careers to GD and have taken personal time beyond their professional responsibilities to provide involved support, guidance and friendship.
“We remind our children daily that Gaucher disease does not define who they are or who they want to become. We focus on guiding them to share their story, realize the power of the communities they are a part of and the importance of advocating for and increasing education of GD.”