My Journey Part 2:

The News No Parent Should Have to Hear

In 2006, we were living in California in a quaint rent house, and I was running a home daycare to supplement our income. My husband and I received a call from a genetic doctor in Colorado, asking if we had time for a conversation. Naturally, we agreed. On that fateful day, Dr. Matthew Taylor from the University of Colorado Hospital was on the line. His initial words, "Are you both sitting? I have some news," immediately signaled to me that our lives were about to change forever. I just didn't know whether the news would be about our oldest son or our youngest, as both boys had been tested for a genetic disease that runs in our family.

Dr. Taylor began with my oldest, revealing that he tested positive for a gene associated with Danon Disease, a condition known in our family. Although his condition wasn't as "advanced" as his brother's, those words filled me with dread. It confirmed that both our children were facing a dire prognosis. The doctor's next words about our youngest son, M, were even more alarming. His condition was much more "advanced," necessitating numerous therapies. At only 18 months old, we hadn't realized the severity of his condition. When I refer to "advanced," I'm not talking about early development in speech or mobility but in the most unfavorable sense relating to the disease's progression.

Hearing this, I collapsed, overwhelmed by despair. My attention drifted away as Dr. Taylor continued, and all I could do was cry while my young son, oblivious to the gravity of the situation, crawled around me, innocently asking if "mama [was] otay?" It was undoubtedly the hardest day of my life, a memory that will never fade. After the call, my husband and I sat together in his office, crying and vowing to secure the best possible care for our boys, despite the lack of a known cure for Danon Disease.

We decided on Stanford's Lucile Packard Children's Hospital for their treatment and embarked on a long journey of appointments and specialist visits, including cardiologists, neuromuscular experts, gastroenterologists, geneticists, electrophysiologists, neuropsychologists, and therapists. Our trips to Stanford, though challenging, were driven by our determination to provide our sons with the best care.

In 2013, we moved back to Colorado to be closer to family, well aware that Danon Disease was prevalent among our relatives. The stress of managing the disease strained our marriage, eventually leading to its dissolution after my husband's infidelity. Despite these hardships, I remained focused on caring for our sons, navigating the challenges of single parenthood, financial instability, and my health issues.

Our journey led us to participate in a natural history study for Danon Disease, offering a glimmer of hope for potential treatments. This study, facilitated by my involvement in a Danon Disease support group, represented a significant step forward in understanding and potentially managing the condition.

Stay tuned for the next post as I discuss the growth of the support group and the outcome of this natural history study!