I invite all readers—parents, aunts, uncles, grandparents, friends, educators, healthcare professionals, and more—to embark on a thought-provoking journey with me. This journey, while difficult, reflects the reality some families face.
Picture a precious newborn placed in your arms. This could be your child, a relative, or a dear friend. Envision watching that little one thrive as a curious and energetic toddler, full of life and questions. Now, imagine waking up one day to find that same child sitting quietly in a corner, tears streaming down their face, and you have no idea why. You notice they feel warm, and you suspect they might be coming down with something.
Your family doctor confirms your suspicions, diagnosing yet another ear infection—this marks the tenth since your child was born. “It’s common in young children,” they reassure you. However, that ear infection soon escalates into a chest infection, leading you back to the doctor. “It’s just a rough patch; he’ll be alright,” is the comforting response.
You can’t help but wonder about the origin of your child’s striking features—those captivating eyes, those big hands, and that round belly. Deep down, something feels off, but you struggle to articulate your concerns to the doctor. You express your worries: “I think he might have hearing loss. He seems disinterested in people and toys, and… I know it sounds odd, but he doesn’t resemble any family members.”
The doctor reassures you: “We’ll arrange an ear test. Worst case, he might need ear tubes. Many kids go through this and eventually outgrow it. He looks like a typical toddler. Are you getting enough support at home?”
After securing therapies for occupational, speech, and language development due to his hearing loss, you remain unconvinced—something feels amiss. You observe your four-year-old struggling to do things he once mastered at eighteen months.
His speech falters, but specialists insist this is typical for children with hearing impairments. “He might need hearing aids eventually, but they’ll help him pick up language better,” they tell you. But you’re frustrated: “He’s losing the words he once knew. He doesn’t play with his toys anymore. He walks on his toes and is frequently hospitalized for chest infections. This can’t all be attributed to hearing loss.”
“Well, after this next set of tubes, we can reassess. He might have a mild learning difficulty, and if these tubes don’t help, we’ll consider hearing aids,” the doctor replies.
“But if he has learning difficulties, why did he seem so bright before? It feels like he woke up one day and forgot everything,” you plead. The response is vague: “We’ll evaluate him. He could have autism—time will tell. Are you getting enough rest? You seem quite anxious.”
For nearly six years, you find yourself navigating a maze of conversations with doctors, nurses, and specialists. Imagine sitting in a hospital as your nearly six-year-old son is prepped for surgery—his fifth set of tubes—despite the specialist’s insistence that they wouldn’t put tubes in any child more than three times. Your heart races, and your mind screams: “Do something! Act now!”
“Okay, we’re ready to take him to the operating room,” the nurse says.
“No more tubes! They’re not working!” you shout in desperation.
“Please calm down. We can discuss this after the procedure,” the nurse responds.
“No! I refuse to consent. I want a pediatric specialist right now!”
Imagine the weight of your emotions as you confront the medical staff.
Then, you meet a doctor who listens. They acknowledge your concerns about your child’s unusual appearance, which doesn’t match anyone in the family. Relief washes over you as this doctor admits, “He definitely has issues beyond hearing impairment. I’m alarmed by the number of hospital visits he’s had. Let’s work together to find the answers.”
Three weeks later, you sit with that same compassionate doctor, and they deliver the heart-wrenching news:
Genetic. Rare. Metabolic. Mucopolysaccharidosis. Progressive. Life-limiting. Terminal. No cure. Hunter Syndrome.
Take a moment to imagine hearing such devastating news about a loved one.
Imagine a day each year dedicated to raising awareness about your journey to diagnosis. Picture the overwhelming support you’d feel if others wore blue or purple to show solidarity. May 15 is International MPS Awareness Day.
My son has MPS type II, also known as Hunter syndrome. Contrary to common belief, Hunter syndrome affects not only boys; we first met a girl with the condition. Approximately 2,000 families worldwide are navigating life with Hunter syndrome.
As we strive for a cure, awareness is crucial—especially in the medical community, but also among the public. There are seven distinct types of MPS. My son receives a synthetic version of his missing enzyme each week; while this isn’t a cure, it decelerates the progression of his condition, buying us precious time.
So I ask you to imagine the impact of showing support by wearing blue (in Ireland and the UK) or purple (in the US and elsewhere) on May 15, honoring those affected by MPS. The world recently turned purple for a musician; imagine if it did the same for children facing terminal conditions. Share your photos wearing purple or blue on my Facebook page at It’s Me Ethan or tweet them to me @ItsMe__Ethan to help us raise awareness, and let’s work together to turn the world purple and blue.
Thank you for your support.
Alex Thompson
Summary:
This article shares the heartfelt journey of a parent navigating the challenges of Hunter syndrome, a rare genetic condition affecting their son. The narrative emphasizes the importance of awareness and support for families dealing with such diagnoses, particularly on International MPS Awareness Day. It calls for collective action to raise awareness through wearing specific colors and sharing personal stories.