Amino acid disorders / Tyrosemia
In this video, the mother of Evan (born with tyrosinemia type I) details her family’s experience in the newborn period. Evan was very ill and the journey to a diagnosis included advocacy and good luck. The particular issue with the negative newborn screen is unclear (e.g., false negative?, inadequate testing method?). It is a reminder that newborn screening is not infallible; even if a disease was tested for through newborn screening and found to be negative, medical providers should repeat testing if clinically indicated.
Organic acidemias / Alkaptanuria
In this short video clip, an adult with alkaptonuria describes her symptoms and urges others who are affected to network to learn more about the disease.
Organic acidemias / Glutaric aciduria type 1 (GA1)
Ruby and Noah are two children with glutaric aciduria type 1; Noah, the older child, presented clinically with an episode of severe clinical decompensation, resulting in long-term neurologic sequelae. His younger sister, Ruby, was identified shortly after birth and treated immediately; she is growing and developing normally. The parents describe their experience of raising two children with this disease, highlighting the importance of being positive and setting goals. Three metabolic experts, two physicians and one dietitian, explain the disease, the treatment approach, and the benefit from an early identification through newborn screening and onset of therapy. Viewers can observe some of Noah’s dystonic posturing and movements.
Organic acidemias / Isovaleric Acidemia
In this video, we learn about the neonatal presentation of a patient with isovaleric acidemia. The video focuses heavily on the importance of dietary therapy and how the mother and family adjusted, developing confidence in their management over time. The importance of a multidisciplinary approach to care is evident.
Vitamin & cofactor metabolism defects / Biotinidase Deficiency
The patient’s mother describes her experience in encountering her daughter’s diagnosis through newborn screening and a clinical diagnostic research study. She also mentions the treatment.