Anna Violet's journey to a peroxisomal disorder diagnosis | GFPD 2020 Patient Ambassador

Our family’s journey to receiving Anna Violet’s diagnosis took approximately three months, but time moves a lot slower in the NICU than it does in the real world. After a traumatic emergency c-section, it took forever for us to finally be able to hold her for the first time. She was born at 37 weeks and was so tiny and frail. During the night, Anna Violet struggled to maintain her temperature, so she was sent to the NICU where they could help keep her warm. We were told this was common for a baby her size so we really were not very worried. In the NICU, after getting scrubbed and dressed, the nurse walked me to where Anna Violet was in an incubator. The nurses showed me how to open the side

Types of peroxisomal disorders: peroxisomal biogenesis disorders and single enzyme protein deficienc

Most peroxisomal disorders are rare, genetic (autosomal recessive) conditions that are often terminal and affect several organ systems of the body. Both types of peroxisomal disorders can cause similar symptoms and affect how the peroxisomes function. There are two types of peroxisomal disorders: peroxisomal biogenesis disorders and single enzyme protein deficiencies. SINGLE ENZYME/PROTEIN DEFICIENCIES - These affect the function of some of the parts within the peroxisome. Only these parts are not performing the job they are supposed to. All the other peroxisome parts are there, and the peroxisomes themselves are there and are otherwise functional. PEROXISOME BIOGENESIS DISORDERS - These aff

A diagnostic odyssey | How does a patient receive a diagnosis of a peroxisomal disorder?

A patient with either type of peroxisomal disorder (peroxisomal biogenesis disorder or single enzyme protein deficiency disorders) can be diagnosed through several biochemical tests or by sequencing the patient’s DNA to identify which mutations a patient has. While peroxisomal disorders affect each patient differently, common health issues include: hearing and vision loss, hypotonia, neurological issues, seizures, developmental delay, feeding issues, adrenal insufficiency, leukodystrophy, and liver, kidney, and bone disease. In the past, there was limited early detection of peroxisomal disorders. Now, there are two ways that individuals are being diagnosed with peroxisomal disorders. The fir

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