Genetic Testing for Zoe

Since this initial diagnosis in June 2009, Zoe has undergone MRIs, blood tests, FISH (fluorescence in situ hybridization) testing, microarrays, metabolic, and other genetic testing. Despite a wide range of symptoms, these tests have failed to provide an answer as to her condition.

Zoe's MRIs have suggested a neurometabolic condition, but as mentioned above, all tests have ruled out known possibilities.

Zoe also has seizures. They are few and far between, but they do happen. She suffers from anhidrosis, an inability to sweat, and immersion hypothermia, a condition in which her body temperature drops too quickly. This leaves this special little girl unable to play outdoors for long in temperatures that do not negatively affect her. She has Pica, a condition where she has an uncontrollable urge to eat non-food items, and global developmental delays. She will be 6 in March, but functions at the overall level of a 3.5 year old. The range in developmental delay has only increased as she has gotten older.

Recently, her mother discovered a relatively new genetic test that could very possibly help to reveal Zoe's condition, and if it is diagnosed, treat it, or the symptoms. This could open Zoe up to many therapy opportunities, medical opportunities, research for future kids diagnosed, an opportunity to make friends with kids just like her. Zoe's mother consulted Zoe's clinical geneticist at Sick Kids Hospital in Toronto, ON, who agrees the test would be beneficial for Zoe, and has wanted to run this test. Unfortunately, this test, Whole Genome Sequencing, costs $4000 and is NOT covered by OHIP (Ontario Health Insurance Plan). 

To run this test is very important to Zoe and her family, a younger brother, a younger sister, and a single mother. As Zoe was not born with microcephaly, or anything evidently wrong medically, this test could also tell Zoe and her family if her little brother and sister have the same condition laying dormant in their little bodies,, or if they are carriers and give their mother the ability to make important medical decisions for all three of her children in their best interests, and also to prevent the condition from activating in Zoe's siblings, should they have it.

Zoe and her family are asking for your help in obtaining this extremely important medical test. It could provide so many answers for Zoe and help improve her quality of life.

Thank you so much for reading and considering Zoe for your donations.

Please visit www.zoemeszaros.com to learn more about her journey.