I invite you, the reader, to embark on an imagined journey with me. If you are a parent, relative, friend, teacher, or healthcare provider, this is a journey that resonates with many families facing challenges that are difficult to comprehend.
The Beginning of a Journey
Picture this: You hold a precious newborn in your arms. This child could be your own, a relative, or a dear friend. As you witness this child blossom into a lively toddler, full of curiosity and energy, everything seems perfect. But then, one day, you find your child sitting alone in a corner, crying without explanation. You suspect they might be ill, and your family doctor confirms your worry, diagnosing yet another ear infection—this being the tenth since their birth.
“It’s not unusual for children this age,” the doctor reassures you. However, the ear infection soon turns into a chest infection, leading you back to the clinic. “It’s just a bad spell. He’ll recover,” they say, but you can’t shake the feeling that something is amiss. You question where your child’s unique features come from; they seem different from you or your partner. Despite your concerns, the doctor brushes them off, suggesting he simply needs more rest or reassurance at home.
Seeking Answers
As time passes, you seek therapies for his hearing loss, yet something deep down tells you this isn’t the full explanation. You watch helplessly as your once vibrant toddler declines, unable to match the milestones he previously achieved. You express your worries about his speech, his lack of interest in toys, and his peculiar walking style—always on his toes. You confront the specialists, insisting that his issues go beyond hearing impairment.
Years pass filled with consultations and frustrations. You find yourself in a hospital, watching your nearly six-year-old prepare for yet another surgery to install ear tubes, despite previous interventions yielding no improvement. Your heart races, and in a moment of desperation, you refuse to consent to further procedures, demanding a different doctor.
A New Hope
Then you meet a compassionate physician who listens. This doctor acknowledges your concerns about your child’s physical traits and agrees that something more is at play. After further evaluations, the diagnosis finally comes: Genetic Rare Metabolic Mucopolysaccharidosis Progressive Life-limiting Terminal No cure Hunter Syndrome.
Imagine the weight of that revelation. What if you had one day each year to share your story and raise awareness about the struggles faced by families like yours? May 15 marks International MPS Awareness Day—an opportunity for support and recognition for those affected by this condition.
My son, diagnosed with MPS type II, known as Hunter syndrome, is among approximately 2,000 families worldwide navigating this journey. Contrary to common belief, Hunter syndrome can affect anyone, regardless of gender or family history, and awareness is crucial. There are multiple forms of MPS, and ongoing research continues to shed light on this complex disorder.
Making a Difference
Each week, my son receives a synthetic version of a missing enzyme, which, while not a cure, helps slow the progression of his condition. It buys us precious time—time to hope for future treatments and a potential cure.
So, I urge you to imagine the impact of raising awareness. On May 15, consider wearing blue or purple as symbols of support for those living with MPS. We can turn the world purple and blue, just as we did for a musician recently. Show your solidarity by sharing your photos on social media or visiting our Facebook page at It’s Me Ethan or tweeting @ItsMe__Ethan.
Thank you for joining us in this journey of awareness.