Hello!
This site was originally created to keep our friends & family up-to-date with Abram's unique medical condition. I had no idea that his journey to diagnosis would inevitably throw my son's story into the forefront of the fight for medical cannabis in Iowa or that we would become dedicated advocates for an extremely rare medical condition called UBE2A Deficiency Syndrome.
Thank you for coming and we hope that you'll be back. We enjoy sharing our story with you and I am grateful for the people this journey has brought into our lives!
Thank you for coming and we hope that you'll be back. We enjoy sharing our story with you and I am grateful for the people this journey has brought into our lives!
About Abram...
Abram is a very unique boy. After years of fighting for a diagnosis since the moment we brought him home from the NICU, we finally received our answer just before Christmas 2015. His official diagnosis is called "UBE2A Deficiency Syndrome", which is the fundamental cause of his brain abnormalities (pineal cyst, grey matter heterotopia/cortical dysplasia), generalized and complex partial seizures, hypotonia, absent speech, renal fusion/horseshoe kidney, his intellectual disability and everything else in between.
It took over three years to find an official diagnosis through Genetic Counseling at the University of Iowa and the Mayo Clinic in Rochester, MN. Abram was tested for Noonan Syndrome, William Syndrome, Fragile X as well as a few others that all came back "normal". As his neurological condition began to worsen, our Geneticist at the University of Iowa Hospital worked with our Neurologist and our Developmental Pediatrician to help us find a cause for his underlying condition.
Abram's diagnosis was found after our medical team ran an "Intellectual Disability Panel" that looks at 169 genes known to cause Intellectual Disability. It was within this test, that the geneticists found the exact cause of our son's symptoms. We were told then that our team of specialists are now officially "learning from Abram". We have enrolled him in Medical Research Programs at the Mayo Clinic, the University of Iowa and the University of Chicago in hopes Abram's story can help other families on the same path in the future. His use of medical cannabis oil may someday even play a crucial role in helping those with UBE2A gain seizure-control when traditional pharmaceuticals have failed them.
The best part of our journey has been the fact that this very website has enabled us to connect with other families. Now, thanks to the power of the internet, we are able to connect with people from around the globe and just three years after diagnosis have been able to find over a dozen other families. We are all learning from one another.
If your child was diagnosed with UBE2A Deficiency Syndrome and you'd like to connect with families on the same path, please find our parental support group on Facebook.
It took over three years to find an official diagnosis through Genetic Counseling at the University of Iowa and the Mayo Clinic in Rochester, MN. Abram was tested for Noonan Syndrome, William Syndrome, Fragile X as well as a few others that all came back "normal". As his neurological condition began to worsen, our Geneticist at the University of Iowa Hospital worked with our Neurologist and our Developmental Pediatrician to help us find a cause for his underlying condition.
Abram's diagnosis was found after our medical team ran an "Intellectual Disability Panel" that looks at 169 genes known to cause Intellectual Disability. It was within this test, that the geneticists found the exact cause of our son's symptoms. We were told then that our team of specialists are now officially "learning from Abram". We have enrolled him in Medical Research Programs at the Mayo Clinic, the University of Iowa and the University of Chicago in hopes Abram's story can help other families on the same path in the future. His use of medical cannabis oil may someday even play a crucial role in helping those with UBE2A gain seizure-control when traditional pharmaceuticals have failed them.
The best part of our journey has been the fact that this very website has enabled us to connect with other families. Now, thanks to the power of the internet, we are able to connect with people from around the globe and just three years after diagnosis have been able to find over a dozen other families. We are all learning from one another.
If your child was diagnosed with UBE2A Deficiency Syndrome and you'd like to connect with families on the same path, please find our parental support group on Facebook.
Our journey with Genetic Counseling and having a rare diagnosis has also been published on The Mighty.
