Content sponsored by Egetis Therapeutics

Written by Nicklas Westerholm, CEO, Egetis Therapeutics

Behind every diagnosis is a child.

Behind every child is a family.

And behind every family is a journey—a journey that deserves to be seen, heard, and understood.

For the MCT8 deficiency community, those words reflect the reality families have lived with for years: navigating a rare, complex condition that too few people recognise and even fewer fully understand.

Today on World MCT8-AHDS Day, the MCT8 deficiency community stands at a pivotal moment. The US approval of the first treatment for peripheral thyrotoxicosis in patients with MCT8 deficiency marks a significant new chapter. For Egetis, it reflects the purpose that has guided our work: addressing serious unmet medical needs for people with few or no treatment options.

But a treatment milestone, important as it is, does not mean the journey is over. Meaningful progress must extend beyond clinical outcomes. The next chapter for MCT8 deficiency must focus on greater recognition and understanding, access to credible information, and continued partnership with the community. Most importantly, patients’ and caregivers’ voices must continue to shape what comes next.

Recognition can change the journey. For families affected by a rare disease, the path to diagnosis is often marked by uncertainty. A child may present with signs that do not immediately point to a single condition. A family may visit multiple specialists. Questions can accumulate while answers remain elusive. And when a disease is rarely encountered, even knowing to consider the diagnosis can be a challenge.

That is why recognition matters. Recognition can begin with a parent who knows that something about their child is unusual. It can begin with a healthcare professional who pauses to ask another question. It can begin when seemingly unrelated pieces of a child’s medical and developmental history are considered together.

Greater recognition of MCT8 deficiency means helping more families and healthcare professionals understand when the condition may warrant consideration. It means making MCT8 deficiency more visible in the broader healthcare conversation, sharing evidence and expertise to strengthen clinical understanding, and ensuring a rare diagnosis does not remain invisible simply because the condition itself is rare.

Centring patient and caregiver voices

MCT8 deficiency affects a small patient population, but it impacts every aspect of a child’s and family’s life. Understanding the full impact is essential to making progress that genuinely matters. The community has always been central to that progress.

Scientific progress is essential, and evidence must guide the decisions we make. But science does not happen in isolation from the people it is intended to serve. It becomes more meaningful when informed by the lived experiences of patients and families.

Parents and caregivers have described the first signs they noticed, the questions they asked, the uncertainty they felt, and the determination that kept them moving forward. They have shared what daily life with MCT8 deficiency looks like beyond a medical chart. They have helped others validate experiences that might otherwise feel isolating.

These voices matter.

They help us understand not only the condition but also the person living with it and the family living alongside it.

Listening to lived experiences

At Egetis, we believe that listening to patients and caregivers should shape every stage of our work. We want to work alongside the MCT8 deficiency community, building relationships and resources that reflect what families tell us they need, and to remain transparent about where progress has been made and where more work remains to be done. 

But progress raises new questions. How do we help ensure that MCT8 deficiency remains recognised among the healthcare professionals who may encounter it? How do we help families find credible, understandable information? How do we continue to listen to the experiences of people living with MCT8 deficiency as care evolves? These questions matter because advancing treatment and understanding are not separate goals. They are connected.

Progress in treatment is one part of the MCT8 deficiency community’s journey. Families and healthcare professionals also need knowledge, resources and connections within the MCT8 deficiency community to navigate a changing care landscape. Progress depends on patients, caregivers, advocates, clinicians and researchers sharing their expertise and working together.

The next chapter must include continued investment in education and disease understanding, supported by meaningful engagement with patients, caregivers, and advocates. We must also recognise that the people closest to MCT8 deficiency have an important perspective on where the community should focus next.

Awareness is a beginning. Understanding moves us forward.

To see MCT8 deficiency is to recognise the whole child and the full impact of the condition on families.

To hear MCT8 deficiency is to listen to those who have experienced the journey firsthand and to recognise the value of their voices.

To understand MCT8 deficiency is to build knowledge that helps families, caregivers and healthcare professionals recognise the condition and navigate the questions that come with it.

Ultimately, it means moving from awareness to action: Recognise. Learn. Ask. Connect.

These are simple actions, but they can have meaning at every stage of the MCT8 deficiency journey. A parent can recognise that something may warrant further investigation. A healthcare professional can learn more about a rare condition they may encounter only occasionally. A family can ask questions and seek appropriate expertise. And a member of the broader community can connect a family with information, resources, or support.

Working with the community

At Egetis, our purpose is to help improve and extend the lives of people living with serious, rare diseases. For the MCT8 deficiency community, that means following the evidence, sharing our expertise responsibly, and working alongside patients, caregivers, advocates, and healthcare professionals. It also means connecting people with credible knowledge and resources while continuing to listen to the community’s greatest priorities.

Most importantly, we need to remember why this work matters. Behind every research programme is a child. Behind every clinical milestone is a family hoping for a different future.

Behind every regulatory achievement is a community whose persistence helped make progress possible.

The first treatment is an important milestone, but it is not the final destination.

As we mark World MCT8-AHDS Day, we honour the families who have shared their journeys, the advocates who have raised their voices, the healthcare professionals and researchers who have advanced understanding and everyone who has helped bring MCT8 deficiency into greater focus.

We also look ahead to a future in which MCT8 deficiency is more readily recognised and more deeply understood, and in which every family affected by it can find the answers, information and support they need.

See MCT8 deficiency. Hear MCT8 deficiency. Understand MCT8 deficiency.

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MED-US-MCT8-2600055

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