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Imagine raising your child and living day to day with No Direction.

Rylan Jase’s case is 1 of 1.

 No prognosis in site.

No feedback from other Families.

No feedback from any Physician.

THIS WAS OUR REALITY....

80% of rare diseases have identified genetic origins.

50% of rare diseases affect children.

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Chromosomal Duplication is incurable. The abnormalities resulting from chromosome duplication vary amongst each individual, creating high levels of stress, pain, and suffering endured by patients and their families. 

Trisomy 2 mosaicism is an extremely rare chromosome disorder characterized by having an extra copy of chromosome 2 in a proportion, but not all, of a person’s cells. Many cases of trisomy 2 mosaicism result in miscarriage during pregnancy. Trisomy 2 mosaicism is not inherited. It is caused by a random error (0.16% chance) in cell division during early development of the embryo. The severity and specific symptoms associated with trisomy 2 mosaicism can vary considerably and generally depend on the level of mosaicism (proportion of affected cells) and the location and type of cells affected.

 

Signs and symptoms that have been reported in livebirths with trisomy 2 mosaicism include:

• Distinctive head and facial features such as a flattened appearance of the middle part of the face (midface hypoplasia), absence of one or both eyes (anophthalmia) or abnormally small eyes (microphthalmia), cleft lip and palate, wide-set eyes (hypertelorism), and small head size (microcephaly)

  • Growth and motor delay

  • Intellectual disability

  • Congenital heart defects

  • Neural tube defects

  • Diaphragmatic hernia

  • Inguinal hernia

  • Radioulnar hypoplasia

  • Rocker-bottom feet (feet with a rounded bottom, resembling the bottom of a rocking chair)

  • Abnormal development of the lower end of the spine (caudal dysgenesis)

  • Portal fibrosis

  • Intestinal malrotation (twisting of the intestines)

  • Hirschsprung disease

  • Hypomelanosis of Ito

  • Polydactyly

  • Deafness

  • Undescended testes

  • Face and body asymmetry

  • Clubfoot

  • Lack of sacrum

Because few cases have been reported in the literature and the level of mosaicism differs among affected fetuses and individuals, it is not possible to predict how a pregnancy or person may be affected by trisomy 2 mosaicism.

The long-term outlook (prognosis) associated with trisomy 2 mosaicism is difficult to predict and depends on many factors. These factors may include the level of mosaicism (proportion of cells affected); the location and type of the cells affected (which cannot be predicted); the nature of abnormal ultrasound findings (if detected); and potential pregnancy-related or health-related complications that may arise before or after birth. A range of outcomes have been reported, including miscarriage, stillbirth, pregnancy termination after abnormal ultrasound findings or prenatal diagnosis.