We're sunsetting PodQuest on 2025-07-28. Thank you for your support!
Export Podcast Subscriptions
cover of episode Chad and Alicia Bohley | Beyond the Diagnosis: A Family's Fight Against MPS 1

Chad and Alicia Bohley | Beyond the Diagnosis: A Family's Fight Against MPS 1

2024/7/10
logo of podcast Mick Unplugged

Mick Unplugged
AI Deep Dive AI Chapters Transcript
People
A
Alicia
C
Chad
M
Mick
Topics
Chad 和 Alicia 分享了他们儿子被诊断患有 MPS 1 的经历，详细描述了这种罕见遗传疾病的症状、诊断过程以及治疗方案。他们强调了早期诊断的重要性，以及及时治疗对改善预后和避免不可逆损伤的关键作用。他们还分享了在儿子确诊后，他们面临的各种挑战，包括情感上的冲击、经济上的压力以及对未来不确定性的担忧。他们讲述了儿子接受骨髓移植手术的过程，以及手术后儿子病情的好转和生活中的点滴进步。他们对儿子的爱和坚持不懈的精神令人感动。 Chad 和 Alicia 积极参与到 MPS 1 的社会倡导中，他们与北卡罗来纳州的立法者合作，推动了新生儿筛查项目的实施，为更多患有 MPS 1 的婴儿争取了及早诊断和治疗的机会。他们还积极参与各种筹款活动，为 MPS 1 的研究和治疗提供资金支持。他们呼吁社会各界关注 MPS 1 这种罕见疾病，并鼓励人们通过捐款、捐献骨髓或脐带血等方式参与到 MPS 1 的防治工作中。 Mick 作为访谈主持人，引导 Chad 和 Alicia 分享了他们的故事，并表达了对他们坚强和乐观精神的敬佩。他强调了家庭支持和社会倡导对 MPS 1 患儿家庭的重要性，并鼓励听众关注 MPS 1，并以自己的方式支持 MPS 1 的防治工作。

Deep Dive

Chapters
Chad and Alicia discuss the genetic disease MPS I, its symptoms, and the long journey to their son's diagnosis, highlighting the challenges and emotional toll.

Shownotes Transcript

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

** ★ Support this podcast on Patreon ★) **