One Individual, One Story
Journey to diagnosis
Adrianna’s mother came from Spain where siestas are normal, so no one thought much of Adrianna’s frequent naps as a child. Growing up in California, Adrianna’s symptoms were invisible to most people. She struggled with her body image because of her bloated stomach and a guidance counselor once asked about her bruises. When severe bone pain kept Adrianna from truly enjoying her favorite activity, flamenco dancing, her family dismissed it as growing pains.
At the age of 15, knowing that something was not right, Adrianna went to the doctor and was told her blood work looked a little weird but she was fine. This was the first time, but not the last time, that doctors failed her.
Right before Adrianna’s 18th birthday, her older sister was hospitalized and received a diagnosis of Gaucher disease. The hospital provided the family with educational materials about this rare condition. As Adrianna read the pamphlets, she realized, “This is me! These are my symptoms! I have this disease!”
Armed with this new information, Adrianna sought confirmation from a hematologist. At that time, a bone marrow biopsy was the only way to confirm a diagnosis of Gaucher disease. The procedure was painful; Adrianna moved around a lot, and the test results were frustratingly inconclusive. A few months later, a blood test became available and Adrianna, at 18 years old, finally received a confirmed diagnosis of Gaucher disease type 1.
If you have children with Gaucher disease, listen to what they are saying and advocate for them. They are tired and hurting, and no one is hearing them.
When Adrianna embarked on her challenging journey with Gaucher disease, a lot was changing in her life. She finished school, started working in a doctor’s office, moved in with her best friend, and made plans to start enzyme replacement therapy (ERT).
Initially Adrianna received ERT through an intravenous line in her arm, which she covered with bandages so that the patients at work wouldn’t see it. At home, her best friend cheered her on and told her not to be embarrassed. After a short time, a surgeon placed a port in her chest, and it was time for Adrianna to learn how to self-infuse.
Looking back, Adrianna knows that she could have taken better care of her port and been more compliant with ERT: “I was young, I was busy, I wasn’t compliant, and I didn’t flush the port as often as I should.”
At one point she got sick because of low platelet counts, and she continued to struggle with daily bone pain and constant fatigue. After one port closed and another got infected, Adrianna is now on her third port.
With a rare disease like Gaucher, it’s easy to be frustrated with doctors who may not know about the symptoms, the disease, or available treatment options. Adrianna continues to speak up and advocate for her care.
Be patient and be prepared to educate your healthcare providers about Gaucher disease. They may not have heard about it since medical school.
Thankful for family
When Adrianna first met her husband, Jon, she was nervous to tell him about Gaucher disease. Worried that his feelings for her would change, she worked up the courage to tell him about it and was overwhelmed by the ease of his acceptance and the support Jon continues to provide to this day. He even found an extra-large tackle box for Adrianna to organize and store everything she needs for her self-infusions.
Adrianna’s advice: “Be open with your feelings and find someone who supports you.” Together, Adrianna and Jon built the foundation for their strong family support system.
Being a mom with Gaucher disease comes with unique challenges. When her two daughters were younger, Adrianna pushed through the pain and fatigue because she didn’t want to miss out. Now that they are older, Adrianna doesn’t pressure herself as much and keeps an open dialogue with them. If it’s an infusion day and her daughters have friends over, Adrianna asks them if it’s okay to do her infusion where their friends might see her, which they both agree, “is no big deal.” She feels guilty that her daughters are Gaucher carriers and that it is even something they think about.
Together as a family, Adrianna, Jon and their two daughters establish their normal and support each other. They know that Adrianna isn’t one to complain and she wants to do more around the house, but the bone pain makes it hard to do anything and the fatigue keeps her sleeping on the couch.
Listen to your body, and if your body is telling you to stop, just stop.
Looking toward the future
A healthcare administrator and self-described hard worker, Adrianna will not let Gaucher disease interfere with her work. Sure, colleagues may notice when she’s having a bad day, but she never wants special treatment. Her positive mindset is to be kind and treat everyone equally.
She enjoys the good days and prepares for the bad days as best she can by listening to her body, sticking to her infusion schedule and never leaving home without her heating pad.
Adrianna shares her story because she wants to bring awareness to this invisible disease. She hopes the future holds a cure for Gaucher and a treatment to reverse the damage that has already been done.
Gaucher doesn’t define who I am, but it is part of me.
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