"As Addison’s mom, my hope is for her to live as normal of a life as possible. I want her to be happy, pain free, and able to do what anyone who doesn't have Blau Syndrome could do."
Written by Addison's mom, Gina:
Addison’s health issues became noticeable when she was one year old. She was crying a lot, especially when she bent over, walked, or even sat. It was clear that movement was painful for her. Next, a rash broke out that covered her entire body and I was significantly concerned by how much she slept and the swelling that occurred throughout her body and face. Eventually, a skin biopsy of her rash showed that she had granulomatous dermatitis and she was referred to Shand’s Hospital in Florida. Numerous doctors examined Addy and she was finally diagnosed with Blau Syndrome via genetic testing. Her diagnosis began a long and ongoing journey of treatment.
After Addison was diagnosed, we tried a variety of the best top-tier biologic drugs available hoping to help her: Humira, Enbrel, Rituxan, Remicade. Nothing worked or lasted long enough to impact her symptoms. She had a good ride with Remicade, but it seemed the effect of all these meds wouldn't last very long. As a result, she’s always been on two biologics at a time, putting her at risk from infections.
At five years of age, the fight for Addison’s vision began. She was diagnosed with uveitis and multiple specialists worked to save her vision. Eventually, we were told there was no hope for her vision as the damage to her optic nerve was far too severe. However, in January of 2023, a relatively new medicine, Yutiq, implanted steroids into her eyes. Her vision is now 20-20 for the time-being!
Since there are no established drugs or a treatment plan for Blau, we are borrowing drugs from other diseases to do our best to treat her. Currently, Addison has more success with using Illaris with low doses of Cytoxin. She also takes high doses of diamox and home steroid infusions of dexamethasone. Once a month, she receives a spinal injection of methotrexate. As you can imagine, these are not fun treatments for a 7 year old, especially when our hospital is a two hour drive away from home.
Unfortunately, her symptoms are still severe and this year she developed inflammation in her brain (neurosarcoidosis) causing horrible and debilitating headaches. She experiences pain in every joint and significant swelling, making walking and everyday life difficult. The rash is still prevalent and each year her disease gets more complicated.
As Addinson’s mom, my hope is for her to live as normal of a life as possible. I want her to be happy, pain free, and able to do what anyone who doesn't have Blau Syndrome could do. At this point in time, Addison is heavily dependent on me. We have been on such a long journey and her disease is so chronic and severe that I worry she won’t be able to get through things without me sometimes.
Throughout all of this, Addison is very creative! She loves to color and play with her baby dolls. Her reading is AWESOME! After her yutiq injections, she could see words on paper again as her vision was restored! Most, importantly, she is just SO SO STRONG.