Diagnosed at 7. Still Waiting for Answers at 9 | HCU & NF1

They were told Mathew’s two rare conditions weren’t expected to coexist. His family’s experience tells a different story. For HCU Awareness Month, Joseph joins Joanna Ball on Rare Connection to share the story of his 14-year-old son, Mathew—a nonverbal teenager from the United Kingdom living with Classical Homocystinuria (HCU) and neurofibromatosis type 1 (NF1). Mathew is the youngest of five children. After concerns about missed developmental milestones, a referral to a metabolic specialist finally led to his HCU diagnosis at age seven. Joseph describes problems with earlier lab testing that delayed answers. Although Mathew had shown signs of NF1 before his HCU diagnosis, Joseph recalls being told the conditions were not expected to coexist. Mathew received his NF1 diagnosis at age nine. Joseph’s wife and one of Mathew’s siblings also have NF1, while Mathew’s siblings have not been tested for HCU. We discuss: • Delayed diagnoses and getting parents’ concerns taken seriously • Supporting a nonverbal child with two rare conditions • Mathew’s loose eye lenses and reluctance to wear glasses • Travel and the practical challenges of additional care needs • Gaps in rare disease knowledge and the need for research funding • The knowledge patients and families bring to conversations about care One diagnosis should not end the search for answers. Rare Connection shares patient and family experiences to encourage learning, strengthen connections, and bring attention to overlooked needs. SUPPORT, INFORMATION & RESEARCH HCU Network America: https://hcunetworkamerica.org/ Support HCU Network America: https://hcunetworkamerica.org/how-to-... Medical Foods and Formula Access Act https://nutritionequity.org/resources/ Nerve Tumours UK: https://nervetumours.org.uk/ Support Nerve Tumours UK: https://nervetumours.org.uk/get-invol... NHS information about NF1: https://www.nhs.uk/conditions/neurofi... Explore HCU clinical studies: https://clinicaltrials.gov/search?con... Explore NF1 clinical studies: https://clinicaltrials.gov/search?con... Recruitment status, locations, and eligibility vary. Check individual study listings for current information. ALEX AND ANDY — AMBASSADOR LINK Shop Alex and Andy and receive 10% off using code JOANNABALL or this link: https://alexandandy.com/?ref=JOANNABALL I receive ambassador credit when you purchase through my code or link. Subscribe to Rare Connection for more conversations with rare disease patients, families, advocates, and professionals. Share this episode to help others understand why listening to families matters. #Homocystinuria #NF1 #RareDisease Chapter Markers 00:00:00 Intro 00:01:33 Global Developmental Delay 00:02:47 Autism 00.03:00 Joseph explores medical records 00:04:05 Homocystinuria 00:07:32 Classical Homocystinuria, vitamins, Diet and formula 00:10:49 Medical Coverage in the UK 00:11:57 Travel with Medical Foods & Liquid formula 00:15:00 US Medical Coverage and the Medical Foods and Formula Access Act 00:17:10 Finding Community 00:29:59 Tracking protein 00:30:10 Physical limitations 00:30:42 School 00:32:34 Homocystinuria Diagnosis 00:33:24 Diagnosis Neuro Fibromatosis 1 00:35:33 Visual issues and Homocystinuria 00:41:06 Explaining the Homocystinuria to Family 00:43:35 Alex and Andy 00:45:00 What is Neurofibromatosis 00:51:44 Testing for HCU 00:53:13 Home monitoring for Homocystinuria 00:55:55 Osteoporosis Risk and Homocystinuria 01:00:24 Communication between medical professionals in the UK 01:08:00 IEP and for dietary needs 01:11:01 Mathews Biggest Achievement 01:12:21 closing