thegalactosemiapodcast.com - support the show; ad-free and early access episodes

To contribute to the new parent episode, send an email to thegalactosemiapodcast@gmail.com 

Details: Record a video in a quiet room, keep it under three minutes. Include your name, your relationship to galactosemia, and your message to a parent that has just received a new galactosemia diagnosis. Thought starters: What advice/words of comfort or wisdom would you give to a parent that just received a galactosemia diagnosis? 

Links & Resources Mentioned:

Galactosaemia Support Group UK: galactosaemia.org

UK Facebook Page: https://www.facebook.com/groups/354881311337724

Babble Boot Camp Early Speech Intervention: https://www.northernspeech.com/competency-courses/babble-boot-camp-basic-training/

In this episode of The Galactosemia Podcast, we welcome Becca Jones, a UK parent and advocate, whose daughter Iris was diagnosed with classic galactosemia after a delayed diagnosis. Becca shares her emotional journey navigating the UK healthcare system, advocating for newborn screening, and dealing with an extremely rare eye complication—vitreous hemorrhage.

She also discusses the challenges of early intervention, childcare with dietary restrictions, and her goal of raising £18,000 by Iris’ 18th birthday to support the Galactosaemia Support Group UK.

Key Topics Discussed:

• The emotional impact of a delayed diagnosis and why newborn screening in the UK does not include galactosemia

• What vitreous hemorrhage is and how it has affected Iris’ vision

• The importance of early intervention for speech & mobility in children with galactosemia

• Navigating the UK healthcare system vs. the US system for rare diseases

• Challenges with childcare, explaining dietary restrictions, and finding the right support

• Becca’s goal to raise £18,000 for galactosemia research & support

• The importance of advocating for early speech therapy and medical awareness

Guest Bios: 

Rebecca Jones is a UK-based parent advocate raising awareness for galactosemia after her daughter, Iris, was diagnosed with classic galactosemia following a delayed diagnosis. In addition to navigating the challenges of raising a child with a rare metabolic disorder, Becca has also had to confront an extremely rare eye complication—vitreous hemorrhage—which has impacted Iris’ vision.

Passionate about advocacy and early intervention, Becca is working to raise £18,000 by Iris’ 18th birthday to support the Galactosaemia Support Group UK, a vital resource for families navigating the condition. She actively shares her experiences to raise awareness, educate healthcare professionals, and provide support for other parents facing similar challenges.

0:00:00 - Intro

0:02:00 - Meet Becca Jones

0:04:45 - Iris’ Galactosemia Diagnosis

0:09:00 - Newborn Screening in the UK

0:13:45 - Delayed Diagnosis Challenges

0:19:30 - Liver Complications & Symptoms

0:27:00 - Vitreous Hemorrhage Explained

0:34:45 - Eye Surgeries & Recovery

0:41:30 - Iris’ Development & Speech

0:46:15 - Managing Childcare & Diet

0:52:30 - UK vs. US Healthcare

0:59:00 - Early Intervention Struggles

1:07:00 - Raising Awareness & Fundraising

1:12:45 - How Iris is Doing Now