The Beginning of Our Lowe Syndrome Journey

By Caroline Tsai

The sun blazes overhead without a cloud in sight. Only a high of 90 degrees today—typical for an October afternoon in Phoenix. My Fitbit reads “Monday the 14th,” as I push a stroller into Phoenix Children’s Hospital with my son, who is almost 18-months-old. The air conditioning blasts as we enter through the automatic doors. Before long, I am listening to the geneticist explain the results of the test to me, but not comprehending much. My eyes fill up with tears as I hold my son close. What did this all mean? How did I not even suspect my son had a genetic condition? How did I not know that I was a carrier? And for goodness sakes, what is a nephrologist? The genetics appointment I thought was going to be insignificant has now changed our lives forever. My heart shattered.

Over the next several months, and many tears later, my husband and I learned about Lowe Syndrome through various medical articles and organizations such as the Lowe Syndrome Association (LSA) and the National Organization for Rare Disorders (NORD). Lowe Syndrome is a rare X-linked recessive genetic syndrome that occurs in 1 out of 500,000 individuals, almost exclusively in males. The primary symptoms include: bilateral congenital cataracts, kidney dysfunction (including renal failure) and global developmental delays. Other complications include: hypotonia (low muscle tone), glaucoma, growth hormone deficiency and dental complications.

We felt slightly more grounded and informed about LS, but we still were missing something: connection. Explaining to our friends about our son’s newfound circumstances was both heart-wrenching and draining. We sought out a local special needs group at Foundation for Blind Children, which provided us with a support network of parents experiencing similar challenges with their young children, but not surprisingly, no children with Lowe Syndrome (LS) were present.

Flash forward to eight months after receiving our son’s LS diagnosis. My husband and I decided to fly our family across the country to Cincinnati, Ohio to attend the 2025 Lowe Syndrome Association conference. We were both anxious and excited for this opportunity to learn more about the syndrome from experts in the field, and to meet other families impacted by LS. We were also searching to be a part of something greater than ourselves, while we continued to face the life-long and unpredictable journey of our son’s health and development.

At the conference, my husband and I connected with so many families who were warm, friendly and open to sharing their stories, their struggles and their fears. We heard experiences of hardship that resonated with our own. Parents shared accounts of constantly advocating for their son’s education, their therapy services and medical treatment. We identified with others about the endless explaining to medical professionals about the complexities of LS. We discussed the challenges of navigating sibling relationships and how living with the uncertainty of our son’s futures was both frightening and exhausting.

We did not just experience grief and sadness at the conference. We listened to stories of resilience and hope, about how milestones such as eating, walking, and communicating, were to be celebrated with every small success. Collectively, the various speakers at the conference touched our hearts, helped us continue to process our own grief, and educated us about complex medical aspects of this rare syndrome. Nothing can change what our sons have gone through and will go through, and nothing can alter the weight we as parents carry everyday with the unknown ahead of us. Even so, getting to know other families has made the reality of our son’s diagnosis more manageable, knowing that there are other people who understand what we are going through.

While our 2-year-old son has a diagnosis of Lowe Syndrome, his syndrome does not define him. He is a social boy who loves making hand motions to Wheels on the Bus. He will look at you and wave “hi,” displaying a big grin upon his face. His energetic and inquisitive 5-year-old sister continues to learn that her younger brother is on his own timeline for reaching a variety of milestones. She tells others how her brother uses a gait trainer to walk and an iPad to communicate, obviously proud of his accomplishments.

As I sip my morning coffee, a rocket blasts off on my Lowe Syndrome Association mug, the words “IGNITING HOPE” giving me a mantra to hold close to my heart. I watch as my son side-steps along our couch, a major milestone we celebrated a few weeks prior. Lists of appointments to schedule bombard me from every direction: therapies, blood draws, medical follow-ups and MRIs.

“I gave him his meds,” my husband informs me before I have a chance to ask. With a quick kiss, he leaves to take our daughter to summer camp before going to work. Our son waves, “bye-bye,” to daddy and sister, another major achievement by our special boy. I look down at my LS bracelet, the yellow letters reading “Lowe Syndrome Association” contrast with the bright blue band: a tangible reminder that there are other families like us. Other families who have joined together to promote awareness of Lowe Syndrome and ongoing research efforts. While the future of our sons may be out of our hands, the bonds we have with each other can help us to stay strong.

I recall a powerful quote by Dr. Martin Luther King Jr., “If you can’t fly then run, if you can’t run then walk, if you can’t walk then crawl, but whatever you do, you have to keep moving forward.” Progress matters. No matter how small. Little victories are worth celebrating both in our sons and in ourselves as caregivers.

I carefully place my empty mug in the dishwasher, glancing again at the blue circle of hope hugging my wrist. You are not alone, it seems to whisper to me. I hear a robotic and repetitive “Eggs. Eggs. Eggs,” coming from my son’s speech generating device. As I take the egg carton out of the fridge, I inhale deeply, remembering to take each moment one at a time.