227: Searching for a Diagnosis: A Rare Disease Mom and Advocate's Journey - ADCY5 Gay's Story

"If you have a doubt about something with your child or a family member, it's just really important to keep pushing through and get to the answers." – Gay Grossman

In this episode, host Katie Taylor speaks with Gay Grossman, a passionate patient advocate and mother, about her journey navigating the rare disease world. Gay shares her experience of seeking a diagnosis for her daughter, advocating for genetic testing, and supporting families through complex medical and educational challenges. Her story highlights the importance of persistence, building a support network, and staying organized. Gay's insights provide invaluable advice for both child life specialists and parents and caregivers dealing with rare diseases.

Key Insights:

• The significance of early genetic testing in providing crucial information and guiding treatment decisions.

• The importance of building a support network to navigate the medical and educational challenges.

• Staying organized and persistent in the face of numerous medical consultations and uncertainty.

• The emotional and psychological toll of advocating for a child with a rare disease.

• The role of patient advocacy in supporting families and advancing research.

Resources and Tips:

• GeneDx: Genetic testing and counseling services.

• Child Neurology Foundation: Resources for fighting insurance denials and other support.

• Women In Bio and Athena: Support network for women in science and biotechnology.

   

  Connect with Gay on LinkedIn.

   

  When parents feel empowered, everyone wins – kids thrive and the care team excels!

  Links and Resources:

  • SupportSpot Website
  • Download SupportSpot iOS or Android

  • 85% of users report high satisfaction, appreciating the Child Life On Call App's comprehensive resources and user-friendly interface.
  • 92% of parent users say the Child Life On Call App helped them understand medical procedures and treatment better.
  • 80% of parents believe the Child Life On Call App has contributed to better health outcomes for their child.
  • 73% of parent users believe the Child Life On Call App has made them feel more empowered to advocate for their child in healthcare

  Learn more here.

  Meet the host: 

  Katie Taylor is the co-founder and CEO of Child Life On Call, a digital platform designed to provide parents, kids, and the care team with access to child life services tools and resources. She is a certified child life specialist with over 13 years of experience working in various pediatric healthcare settings. Katie is the author of the children's book, and has presented on the topics of child life and entrepreneurship, psychosocial care in the hospital, and supporting caregivers in the NICU setting both nationally and internationally. She is also the host of the Child Life On Call Podcast which features interviews with parents discussing their experiences throughout their child's medical journey. The podcast emphasizes the crucial role of child life services in enabling caregivers both at and beyond the bedside.

  Instagram.com/childlifeoncall

  Facebook.com/childlifeoncall

  linkedin.com/in/kfdonovan