Denise'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 Markers
00:00 Intro
02:39 How Denise's family processed the abnormal Newborn Screening results
04:43 Hardest part
07:10 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 vitamins
11:41 managing diet as riley grows
15:14 Managing Formula & diet with activities
18:34 Favorite foods
24:54 school parties and food items
26:56 504 plan
27:36 clinical trial
30:18 How Denise's support network helps her navigate life with HCI
34:19 School communication
37:29 Hopes for Riley's future in terms of health & personal goals
40:05 most rewarding part
42:51 changes in public understanding
43:57 What Deise does for Homocystinuria Awareness Month
45:09 Most mistunderstood part of Classical HCU
48:36 What does denise mean by"Living like Rockstars"
50:06 Advice to others
50:55 Conclusioniet formula, how she works with the schools and more
