cover of episode Chad and Alicia Bohley | Beyond the Diagnosis: A Family's Fight Against MPS 1 - Mick Unplugged [EP 27]

Chad and Alicia Bohley | Beyond the Diagnosis: A Family's Fight Against MPS 1 - Mick Unplugged [EP 27]

2024/7/10
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Chad 和 Alicia 分享了他们儿子被诊断患有 MPS 1 的经历，这是一种罕见的遗传疾病，导致体内缺乏分解细胞废物的酶，从而导致废物在体内堆积，影响多个器官和系统。他们详细描述了诊断过程中的挑战，包括最初症状的识别和基因检测的延迟，以及由此导致的不可逆转的器官损伤。他们强调了早期诊断和治疗的重要性，并分享了他们儿子接受骨髓移植手术的经历，以及术后恢复和生活变化。他们还积极参与倡导活动，推动新生儿筛查的立法，以提高 MPS 1 的公众意识，并为其他受影响的家庭提供支持。 Chad 和 Alicia 讲述了他们如何应对儿子 MPS 1 诊断带来的情感和实践挑战。他们分享了儿子接受各种治疗的经历，以及他们为提高 MPS 1 疾病认识所做的努力。他们强调了基因检测和早期诊断的重要性，并参与了相关的立法变革。他们还谈到了在面对疾病挑战的同时，如何保持家庭的团结和希望。他们分享了儿子术后生活中的小进步，以及这些进步对他们生活带来的积极影响。他们也谈到了对未来生活和对儿子的期望。

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In this heartfelt episode, Mick Hunt talks with Chad and Alicia about their family's battle with MPS 1 following their son's late diagnosis. They discuss the complexities of the disease, the critical role of early detection, and their dedicated efforts to raise awareness and support other affected families. Their story is not just one of challenges but also immense love, resilience, and hope.

Background: Chad and Alicia share their journey dealing with their son’s diagnosis of MPS 1, a rare genetic condition.

Discussion Topics:

  • The challenges of recognizing and diagnosing MPS 1 include initial symptoms and the genetic aspects of the disease.
  • The emotional and practical impacts of MPS 1 on their family life, detailing their son's various treatments and their advocacy efforts.
  • The importance of genetic testing and early diagnosis, and the couple's involvement in legislative changes to support this cause.

Key Quotes:

  • "No parents should have to wait three years to get this diagnosis."
  • "Every single symptom he has was like checking off a box."

Next Steps:

  • Learn More: Dive deeper into MPS 1 and how you can support families and research.
  • Reflect: Consider how you can contribute to advocacy in your community for rare diseases.
  • Engage: Share your thoughts or stories about overcoming health challenges using #MickUnplugged.

**Connect & Discover:**National MPS Society: mpssociety.org>courage>jacob-bohley