Homocystinuria Awareness Month: Classical Homocystinuria with Denise From Ohio

Send us Fan MailDenise's  child Rileu is one of few that I have spoken to that was diagnosed through newborn screening.  Although Homocystinuria is on the Newborn Screening Nationwide it only catches a case 50% of the time.  We are working on enhanced Newborn screening but newborn screening saves lives has not been reauthorized yet.  Chapterr Markers00:00 Intro02:39 How Denise's family processed the abnormal Newborn Screening results04:43 Hardest part07:10 Denise was told to mix milk in with Riley's formula and she is on a low protein diet.09:59 how Denise dealt with the specialize formual and vitamins11:41 managing diet as riley grows15:14 Managing Formula & diet with activities18:34 Favorite foods24:54 school parties and food items26:56 504 plan27:36 clinical trial30:18 How Denise's support network helps her navigate life with HCI34:19 School communication37:29 Hopes for Riley's future in terms of health & personal goals40:05 most rewarding part42:51 changes in public understanding43:57 What Deise does for Homocystinuria Awareness Month45:09 Most mistunderstood part of Classical HCU48:36 What does denise mean by"Living like Rockstars"50:06 Advice to others50:55 Conclusioniet formula, how she works with the schools and moreSupport the show