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AMPLIFYING THE VOICES

Our Life With MCT8 Deficiency

MCT8 deficiency (Allan-Herndon-Dudley syndrome [AHDS]) is a rare disorder that causes health complications requiring lifelong support for daily activities.

If you’re affected by MCT8 deficiency, you don’t need to face the challenges alone. This space brings together voices from people with the disorder, their caregivers, and doctors, all working to amplify understanding and hope within the MCT8 community.

Explore this page to hear real voice of people who shared “Our Life With MCT8 Deficiency.” If you want to add your experience to the chorus of support, learn how to share your story.

CAREGIVERS, DOCTORS, AND EGETIS THERAPEUTICS SPEAK UP

About MCT8 Deficiency

  • MCT8 Deficiency Symptoms (1 min, 17 sec)
  • MCT8 Deficiency Causes (48 sec)
  • Recognizing Symptoms & Testing (1 min, 40 sec)
  • Multidisciplinary Care Team (1 min, 33 sec)
  • Research & Clinical Trials (1 min)

Real Experiences and Support

  • Nicole and Her Son Liam (58 sec)
  • Liam’s Diagnosis (1 min, 4 sec)
  • Nicole Early Experience (43 sec)
  • Getting Care for Liam (1 min, 19 sec)
  • Nicole Gets Caregiver Support (44 sec)
  • Jennifer and Her Son Colten (1 min, 40 sec)
  • MCT8-AHDS Foundation & Egetis Therapeutics (4 min, 44 sec)
  • Nicole & Liam Find Joy (39 sec)

Watch the full episode of Behind the Mystery™, a recurring series from The Balancing Act® devoted to advocating for rare and genetic diseases or explore the video chapters.

In this video, you’ll hear:

  • Nicole, caregiver and advocate for her son, Liam, shares the emotional story of finally receiving his diagnosis
  • Jennifer, caregiver and advocate for her son, Colten, discusses their story and the MCT8-AHDS Foundation
  • Larry Fox, MD, talks about the signs, symptoms, and causes of MCT8 deficiency
  • Andrew J Bauer, MD, discusses MCT8 deficiency research and the paths to diagnosis
  • Amy Bedard, President North America, Egetis Therapeutics, discusses working together to address unmet needs of people with MCT8 deficiency
Caregivers of Children With MCT8 Deficiency Make Their Voices Count

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Katie and Josh.

Katie and Josh

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Katie and Josh face the daily realities of MCT8 deficiency. Despite many challenges and the absence of a cure, their strength and hope allow them to build meaningful moments.

“No matter how long the road is or how long Josh is with us, we just live life to the maximum as much as we can.”

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Rebecca and Elijah.

Rebecca and Elijah

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Rebecca and Elijah’s experience highlights the power of advocacy and care. After years of uncertainty, Rebecca’s commitment brought Elijah new opportunities for growth and happiness.

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“Despite all the hurdles, Elijah’s progress is inspiring. Hope for potential treatment options remains strong.”

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Albin.

Albin

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Albin’s story is driven by perserverance. Despite months of uncertainty, his family’s determination led to a diagnosis of MCT8 deficiency, bringining understanding and the prospect of a better life.

“Establishing the correct diagnosis is essential for a proper treatment. Just imagine if more people knew how easy it is to diagnose.”

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Christina and Carter.

Christina and Carter

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Christina and Carter’s life with MCT8 deficiency shows how determination and support from loved ones helped them find strength. It also reminds us that joy can be found in every moment together.

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“As a single mother, I am grateful to have the support of family and friends, especially my mother.”

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Nate.

Nate

Nate’s family are united by love and unwavering dedication. Their strength and hope inspire others, proving that resilience can transform adversity into meaning.

“Even if this is not at all the life we dreamed of, we wouldn’t change anything, and we love our little Nate/”

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Nicole and Liam.

Nicole and Liam

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Nicole and Liam’s journey shows how hope and love endure through the challenges of MCT8 deficiency. Nicole’s advocacy and connection with others creates strength and purpose.

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“I will continue to fight for him, advocate for him, and cherish every single moment we have together.”

“Egetis Therapeutics is driven by three key pillars: Courage, Commitment, and Collaboration. We have the courage to tackle hard conditions like MCT8 deficiency, commitment to uphold the highest ethical standards, and value ongoing collaboration with the MCT8 community to heighten awareness and understanding of MCT8 deficiency. Currently, there are no approved medicines for MCT8 deficiency in the United States, creating a high unmet need we’re diligently working to address.”

—Anny Bedard, President North America, Egetis Therapeutics
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SUPPORT OTHERS: ADD YOUR VOICE TO “OUR LIFE WITH MCT8 DEFICIENCY”

Learn more about how you can share your story about MCT8 deficiency.

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