Raising Awareness About Hunter Syndrome: A Parent’s Journey

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I invite you on a journey—a journey that may not be pleasant, but one that many families must navigate.

Picture this: you’re handed a precious newborn, someone who could be your child, a relative, or a dear friend. As you watch this little one grow into a lively toddler, you’re filled with joy as they explore the world with endless questions and boundless energy. Then, one day, you find that same child curled up in a corner, tears streaming down their face, and you have no clue why. They feel warm, and you suspect they might be coming down with something.

Your family doctor echoes your thoughts, declaring it’s just another ear infection—number ten since this 2-year-old entered the world. “It’s common at this age,” they say. The ear infection spirals into a chest infection, leading you back to the clinic. “Just a rough patch,” the doctor reassures you.

You can’t shake the feeling that something isn’t quite right. You look into those eyes—where did they come from? Those large hands, that tuft of hair, and that round, protruding belly are indicators of something more. You muster the courage to express your concerns: “I think he’s losing his hearing; he doesn’t play with his toys or engage with people like he used to. And honestly, he doesn’t look like me or his dad.”

The doctor nods, promising to conduct hearing tests. “Worst-case scenario, he’ll need ear tubes. Many kids grow out of that,” they assure you. “I think he looks like a typical toddler. Are you getting enough sleep?”

You eventually secure sessions for occupational therapy and speech therapy, as your child is diagnosed with hearing loss. However, a top ear specialist maintains, “He’ll outgrow it.” Deep down, you feel differently. Your heart sinks as you see your four-year-old struggle to do things he could achieve at eighteen months.

His speech regresses, and specialists chalk it up to his hearing impairment. “It’s normal,” they say, “Once he gets hearing aids, he’ll pick up language better.” But your child isn’t using his previous words, avoids playing with toys, walks on his toes, and is frequently hospitalized for chest infections. “How can all this be just due to hearing loss?” you question.

“Well, after this round of tubes, we’ll reassess. There might be a mild learning difficulty, and if the tubes don’t help, we’ll explore hearing aids.”

“But if he has learning difficulties, how could he have been so bright before? It’s like he woke up one day and forgot everything!”

“Let’s keep monitoring. He could have autism—time will tell. By the way, are you getting enough rest?”

Fast forward through five years and ten months of endless discussions with healthcare professionals. You’re now sitting in a hospital, your nearly six-year-old is prepped for his fifth set of tubes, despite assurances that no child should need them more than three times. Your heart races, shouting in your mind, “Do something!”

“Okay, we’re ready for surgery in five minutes,” a nurse announces.

“No more tubes! They’re not working!” you erupt.

“Calm down. We can talk after,” the nurse replies.

“No! I won’t sign that consent form. I need a pediatric doctor—now!”

You can feel your knees buckle and your body tremble from the intensity of your emotions.

Then, a doctor finally listens. They acknowledge your concerns about your child’s physical appearance, recognizing that something deeper is at play. “You’re right to be worried. We’ll figure this out together,” they promise.

Three weeks later, you receive life-altering news:

• Genetic
• Rare Metabolic
• Mucopolysaccharidosis
• Progressive
• Life-limiting
• Terminal
• No cure
• Hunter Syndrome

Take a moment to consider the weight of those words when applied to someone you love.

Imagine a day dedicated to sharing your journey toward diagnosis and raising awareness. The support you’d feel if others wore blue or purple to stand with you. May 15 is International MPS Awareness Day.

My son is one of the approximately 2,000 families worldwide living with Hunter syndrome. We were told only boys could have this condition, yet the first person we met with Hunter syndrome was a girl.

Awareness is crucial—especially in medical communities and the public sphere. There are seven types of MPS, and my son receives a synthetic version of his missing enzyme weekly. While it’s not a cure, it slows the progression of his condition, giving us hope for future treatments.

So, I urge you to imagine the impact your support could have. Wear blue (in Ireland and the UK) or purple (in the U.S. and other regions) on May 15 to honor those affected by MPS.

Imagine the world going purple for children who need it. Share your photos wearing these colors on my Facebook page, “It’s Me Ethan,” or tweet them to me @ItsMe__Ethan. Together, let’s raise awareness and perhaps turn the world a vibrant purple and blue!

Thank you for your support.

Summary

In this heartfelt narrative, Alex Thompson recounts the challenges faced by families navigating the complexities of Hunter Syndrome, a rare genetic disorder. Through a poignant journey filled with frustration and hope, the story highlights the importance of awareness, support, and understanding within both medical and public communities. As families like Alex’s face daily struggles, initiatives like International MPS Awareness Day encourage collective action to create change and foster understanding.