Title: A "Special Boy's" Mystery Genetic Disorder: One Dad's Crusade To Find Answers, An Interview With Matthew Ciciretti

In this heartfelt episode, Laura interviews Matt Ciciretti, a super dad of five kids, two dogs, three cats, and a goldfish. He shares his journey with his 10-year-old son Mark, his "special boy," who was born with a cleft lip and palate, and developmental delays. Doctors also recently discovered an undiagnosed genetic condition, an apparent bone marrow disorder, that has left the medical community puzzled. Mark specifically has a partial deletion of his 21 chromosome, called partial monosomy syndrome and on his 22 chromosome, he has a partial addition called partial trisomy syndrome. These syndromes are so unique that there isn't even a database of children like Mark. So the mystery remains. Mark suffers from spontaneous nosebleeds and often requires trips to the emergency room with subsequent transfusions and hospital stays. Navigating the healthcare system can be challenging, especially when your child doesn't fit the classical mold of a diagnosis. Matt discusses his experiences with various physicians, the obstacles they have faced while seeking answers about Mark's condition, and the importance of advocating for your child's medical care.

Key Topics:

1. Journey With a Child's Undiagnosed Condition (0:00:01): Matt shares the beginning of his journey with Mark, who was born with a cleft lip and palate and a unique genetic makeup that doctors have struggled to diagnose.

2. Unidentified Cause of Low Platelets (0:16:03): Matt discusses the challenges faced while trying to identify the cause of Mark's low platelets, leading to multiple hospitalizations and tests.

3. Advocating for Medical Care (0:25:43): Matt shares his experience of pushing medical professionals to provide additional information and insight into Mark's condition, eventually leading to a mild autism diagnosis and access to resources and support.

4. Navigating the Healthcare System (0:42:04): Matt expresses his frustrations with the lack of accountability and transparency in the healthcare system and the emotional toll a lack of answers can take on a family. However, Matt applauds the efforts of Mark's pediatric hematology team.

5. Supportive Relationships in Times of Need (0:55:17): Matt reflects on the incredible support he has received from loved ones and the importance of maintaining resilience in the face of challenges.

Advice for other parents in similar situations:

- Find a physician who truly cares about your child

- Explore options for top-tier medical care, depending on your insurance

- Seek support from loved ones and professionals to help navigate the healthcare system...Matt offers even more advice in the podcast.

Don't miss this inspiring and informative conversation with Matt Ciciretti as we learn about the challenges of parenting a child with an undiagnosed condition and the importance of continuing to advocate for his or her well-being.

Connect with Laura

Email: [email protected]

Website: www.desperateforadiagnosis.com

Youtube: https://www.youtube.com/@desperateforadiagnosis

Facebook: https://www.facebook.com/DesperateForADiagnosisPodcast

LinkedIn: https://www.linkedin.com/showcase/the-desperate-for-a-diagnosis-podcast/