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March 18, 2016 11:53 pm
5I was just curious if anyone had thoughts or advice on Oskar’s two different rashes last night. Oskar’s skin turns red a lot but not like this… He...
March 16, 2015 11:53 pm
3Our insurance company just approved the WES (whole exome sequencing) analysis for Oskar. Great news! Thank you!!! However, they DENIED the WES analysis for both Lucy and Gina....
March 10, 2015 5:38 pm
2I met with my specialists for yet another round of appointments over the past week. There are still no answers for me. I had a few more diagnostic...
September 17, 2014 4:58 pm
0Our insurance company approved the exome sequencing only for Ava. This is a wonderful step forward for Ava. However, Oskar and Lucy need it as well. We also...
August 20, 2014 11:40 am
1Oskar’s Endocrine Clinic Note: “I encouraged mother to have genomic sequencing to try to elucidate the cause of what appears to be autosomal dominant dysautonomia.” CURRENT SYMPTOMS: -Cannot...
August 17, 2014 12:32 am
82013: Oskar Szajnuk was diagnosed at the age of four with an unknown genetic dysfunction, an autonomic neuropathy, small fiber polyneuropathy. He is extremely low in ferritins, which...
April 29, 2024 8:00 am
0What is Undiagnosed Day? April 29th is Undiagnosed Day. It is a day to celebrate those living with an undiagnosed rare disease and their families as well as...
April 29, 2023 4:36 pm
0“Imagine that you only get three years of good health and they are the three years you don’t really remember because you were too young.” – Ava Szajnuk...
April 29, 2023 10:00 am
0What is Undiagnosed Day? Undiagnosed Day is to celebrate those living with an undiagnosed disease and their families as well as to remember the ones we have lost....
April 29, 2023 8:00 am
0What is Undiagnosed Day? Undiagnosed Day is to celebrate those living with an undiagnosed disease and their families as well as to remember the ones we have lost....